Update on Prenatal Diagnosis and Maternal Fetal Medicine

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Obstetrics & Gynecology".

Deadline for manuscript submissions: closed (25 May 2023) | Viewed by 49633

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Department of Obstetrics and Gynecology, Division of Prenatal Medicine, University Hospital UKGM, Justus-Liebig University, 35392 Giessen, Germany
Interests: fetal echocardiography; detailed anomaly scan; first trimester screening; genetic testing; fetal therapy; advanced imaging modalities
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Special Issue Information

Dear Colleagues,

The area of prenatal diagnosis and therapy and the field of maternofetal medicine are rapidly evolving. With the advent of new imaging modalities, sophisticated laboratory methodology and fetal treatment options, knowledge and parental counselling has to keep up with it. In this Special Issue, we aim to provide an overview of what the latest achievements in the field are. The spectrum of topics ranges from fetal diagnosis and therapy of abnormalities to genetic testing modalities and maternofetal medicine.

Prof. Dr. Roland Axt-Fliedner
Guest Editor

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Keywords

  • fetal echocardiography
  • fetal abnormalities
  • fetal therapy
  • genetic testing

Published Papers (27 papers)

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12 pages, 1735 KiB  
Article
Implementation and Assessment of a Laparotomy-Assisted Three-Port Fetoscopic Spina Bifida Repair Program
by Corinna Keil, Siegmund Köhler, Benjamin Sass, Maximilian Schulze, Gerald Kalmus, Michael Belfort, Nicolas Schmitt, Daniele Diehl, Alice King, Stefanie Groß, Caitlin D. Sutton, Luc Joyeux, Mirjam Wege, Christopher Nimsky, Wiliam E. Whitehead, Eberhard Uhl, Thierry A. G. M. Huisman, Bernd A. Neubauer, Stefanie Weber, Helmut Hummler, Roland Axt-Fliedner and Ivonne Bedeiadd Show full author list remove Hide full author list
J. Clin. Med. 2023, 12(15), 5151; https://doi.org/10.3390/jcm12155151 - 07 Aug 2023
Viewed by 1315
Abstract
Open spina bifida (OSB) is a congenital, non-lethal malformation with multifactorial etiology. Fetal therapy can be offered under certain conditions to parents after accurate prenatal diagnostic and interdisciplinary counseling. Since the advent of prenatal OSB surgery, various modifications of the original surgical techniques [...] Read more.
Open spina bifida (OSB) is a congenital, non-lethal malformation with multifactorial etiology. Fetal therapy can be offered under certain conditions to parents after accurate prenatal diagnostic and interdisciplinary counseling. Since the advent of prenatal OSB surgery, various modifications of the original surgical techniques have evolved, including laparotomy-assisted fetoscopic repair. After a two-year preparation time, the team at the University of Giessen and Marburg (UKGM) became the first center to provide a three-port, three-layer fetoscopic repair of OSB via a laparotomy-assisted approach in the German-speaking area. We point out that under the guidance of experienced centers and by intensive multidisciplinary preparation and training, a previously described and applied technique could be transferred to a different setting. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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10 pages, 237 KiB  
Article
Comparison of the Results of Prenatal and Postnatal Echocardiography and Postnatal Cardiac MRI in Children with a Congenital Heart Defect
by Marios Mamalis, Tamara Koehler, Ivonne Bedei, Aline Wolter, Johanna Schenk, Ellyda Widriani and Roland Axt-Fliedner
J. Clin. Med. 2023, 12(10), 3508; https://doi.org/10.3390/jcm12103508 - 17 May 2023
Cited by 1 | Viewed by 1244
Abstract
Objective: In fetuses with suspicion of congenital heart disease (CHD), assessment by segmental fetal echocardiography is of great importance. This study sought to examine the concordance of expert fetal echocardiography and postnatal MRI of the heart at a high-volume paediatric heart centre. Methods: [...] Read more.
Objective: In fetuses with suspicion of congenital heart disease (CHD), assessment by segmental fetal echocardiography is of great importance. This study sought to examine the concordance of expert fetal echocardiography and postnatal MRI of the heart at a high-volume paediatric heart centre. Methods: The data of two hundred forty-two fetuses have been gathered under the condition of full pre- and postnatal and the presence of a pre- and postnatal diagnosis of CHD. The haemodynamically leading diagnosis was determined for each test person and was then sorted into diagnostic groups. The diagnoses and diagnostic groups were used for the comparison of diagnostic accuracy in fetal echocardiography. Results: All comparisons between the diagnostic methods for detection of congenital heart disease showed an “almost perfect” (Cohen’s Kappa > 0.9) strength of agreement for the diagnostic groups. The diagnosis made by prenatal echocardiography showed a sensitivity of 90–100%, a specificity and a negative predictive value of 97–100%, and a positive predictive value of 85–100%. The diagnostic congruence resulted in an “almost perfect” strength of agreement for all evaluated diagnoses (transposition of great arteries, double outlet right ventricle, hypoplastic left heart, tetralogy of Fallot, atrioventricular septal defect). An agreement of Cohen’s Kappa > 0.9 was achieved for all groups, with exception of the diagnosis of double outlet right ventricle (0.8) in prenatal echocardiography compared to postnatal echocardiography. This study came to the result of a sensitivity of 88–100%, a specificity and negative predictive value of 97–100%, and a positive predictive value of 84–100%. The performance of cardiac magnetic resonance imaging (MRI) as an additional measure to echocardiography had an added value in the description of the malposition of the great arteries when diagnosed with double outlet right ventricle and in the detailed description of the anatomy of the lung circulation. Conclusions: Prenatal echocardiography could be shown to be a reliable method for detection of congenital heart disease when regarding the slightly lower accuracy of diagnosis for double outlet right ventricle and right heart anomalies. Furthermore, the impact of examiner experience and the consideration of follow-up examinations for further improvement of diagnosis accuracy may not be underestimated. The main advantage of an additional MRI is the possibility to obtain a detailed anatomic description of the blood vessels of the lung and the outflow tract. The conduction of further studies that include false-negative and false-positive cases, and studies that are not set within the high-risk-group, as well as studies in a less specialized setting, would allow the completion and investigation of possible differences and discrepancies when comparing the results that have been obtained in this study. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
9 pages, 1591 KiB  
Article
Serum Pancreatic Stone Protein Reference Values in Healthy Pregnant Women: A Prospective Cohort Study
by Ladina Vonzun, Romana Brun, Nora Gadient-Limani, Marcel André Schneider, Theresia Reding, Rolf Graf, Perparim Limani and Nicole Ochsenbein-Kölble
J. Clin. Med. 2023, 12(9), 3200; https://doi.org/10.3390/jcm12093200 - 29 Apr 2023
Cited by 1 | Viewed by 999
Abstract
Background: In non-pregnant populations, pancreatic stone protein (PSP) has been reported to have a higher diagnostic performance for identifying severe inflammatory and infectious disease than other established biomarkers. Objective: To generate reference values for serum PSP in pregnancy and compare them to the [...] Read more.
Background: In non-pregnant populations, pancreatic stone protein (PSP) has been reported to have a higher diagnostic performance for identifying severe inflammatory and infectious disease than other established biomarkers. Objective: To generate reference values for serum PSP in pregnancy and compare them to the values of the general healthy population. Design: A prospective cohort study. Setting: A single center. Population: Healthy women with singleton and multiple pregnancies. Methods: This is a prospective single-center cohort study. Between 2013 and 2021, samples of 5 mL peripheral blood were drawn from 440 healthy pregnant women. Therein, 393 cases were singletons and 47 were multiple pregnancies. Serum PSP levels were measured by specific enzyme-linked immunosorbent assay. The main outcome measures were serum PSP level (ng/mL) reference values in healthy pregnant women. Results: The mean PSP reference values in women with singleton pregnancies were 7.9 ± 2.6 ng/mL (95% CI; 2.69–13.03 ng/mL). The PSP values in women with multiple pregnancies (9.17 ± 3.06 ng/mL (95% CI; 3.05–15.28 ng/mL)) were significantly higher (p = 0.001). The PSP values in the first trimester (6.94 ± 2.53 ng/mL) were lower compared to the second (7.42 ± 2.21 ng/mL) and third trimesters (8.33 ± 2.68 ng/mL, p = 0.0001). Subgroup analyses in singletons revealed no correlations between PSP values, maternal characteristics, and pre-existing medical conditions. Conclusion: The PSP values in healthy pregnant women (4–12 ng/mL) were in the range of the reference values of the general healthy population (8–16 ng/mL). This insight blazes a trail for further clinical studies on the use of PSP as a potential novel biomarker for the early detection of pregnancy-related diseases such as chorioamnionitis. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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14 pages, 1847 KiB  
Article
Amniocentesis—When It Is Clear That It Is Not Clear
by Razvan Ciortea, Andrei Mihai Malutan, Carmen Elena Bucuri, Costin Berceanu, Maria Patricia Rada, Cristina Mihaela Ormindean and Dan Mihu
J. Clin. Med. 2023, 12(2), 454; https://doi.org/10.3390/jcm12020454 - 06 Jan 2023
Cited by 2 | Viewed by 2620
Abstract
A fetus identified to be at risk for chromosomal abnormalities may benefit from identification of genetic defects through amniocentesis. Although the risks associated with amniocentesis are considered to be minimal, being an invasive procedure it is not completely without complications. Background and Objectives: [...] Read more.
A fetus identified to be at risk for chromosomal abnormalities may benefit from identification of genetic defects through amniocentesis. Although the risks associated with amniocentesis are considered to be minimal, being an invasive procedure it is not completely without complications. Background and Objectives: The current study aims to identify correlations between blood contamination of samples collected during amniocentesis and certain factors dependent on the instruments used (thickness of the needle used to aspirate the fluid), the location of the placenta, and uterine vascularity (more pronounced in multiparous patients). Materials and Methods: The study included 190 patients in the second trimester of pregnancy who met one of the criteria for invasive prenatal diagnosis (age over 35 years, high risk in first trimester screening, history of pregnancies with genetic abnormalities, etc.). The amniotic fluid samples collected from these patients were analyzed in terms of blood contamination of the amniotic fluid aspirated with maternal cells Results: Of the patients in whom the procedure was performed using 21 G size needles, 16 samples (13.33% of the total) were contaminated. None of the samples collected from patients where a 20 G needle was used were contaminated. There was a statistically significant association between the lack of contamination and the use of Doppler ultrasound in multiparous patients with anterior placenta in whom a 21-gauge needle was used for amniocentesis. Conclusions: There is an increased rate of sample contamination (statistically significant) when using 21 G needle sizes and a significant difference in contamination between primiparous and multiparous patients, with contamination being more frequent in multiparous patients. The use of Doppler ultrasonography may benefit the procedure, as the contamination rate was significantly reduced when used during amniocentesis. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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9 pages, 579 KiB  
Article
Are Cervical Length and Fibronectin Predictors of Preterm Birth after Fetal Spina Bifida Repair? A Single Center Cohort Study
by Ladina Vonzun, Ladina Rüegg, Julia Zepf, Ueli Moehrlen, Martin Meuli and Nicole Ochsenbein-Kölble
J. Clin. Med. 2023, 12(1), 123; https://doi.org/10.3390/jcm12010123 - 23 Dec 2022
Viewed by 1026
Abstract
Background: A remaining risk of fetal spina bifida (fSB) repair is preterm delivery. This study assessed the value of preoperative cervical length (CL), CL dynamics (∆CL) and fetal fibronectin (fFN) tests to predict obstetric complications and length of stay (LOS) around fSB repair. [...] Read more.
Background: A remaining risk of fetal spina bifida (fSB) repair is preterm delivery. This study assessed the value of preoperative cervical length (CL), CL dynamics (∆CL) and fetal fibronectin (fFN) tests to predict obstetric complications and length of stay (LOS) around fSB repair. Methods: 134 patients were included in this study. All patients had CL measurement and fFN testing before fSB repair. ∆CL within the first 14 days after intervention and until discharge after fSB repair were compared in groups (∆CL ≥ 10 mm/<10 mm; ≥20 mm/<20 mm). CL before surgery, ∆CL’s, and positive fFN tests were correlated to obstetric complications and LOS. Results: Mean CL before surgery was 41 ± 7 mm. Mean GA at birth was 35.4 ± 2.2 weeks. In the group of ∆CL ≥ 10 mm within the first 14 days after intervention, LOS was significantly longer (p = 0.02). ∆CL ≥ 10 mm until discharge after fSB was associated with a significantly higher rate of GA at birth <34 weeks (p = 0.03). The 3 positive fFN tests before fSB repair showed no correlation with GA at birth. Conclusion: Perioperative ∆CL influences LOS after fetal surgery. ∆CL ≥ 10 mm until discharge after fSB repair has a 3-times higher rate of preterm delivery before 34 weeks. Preoperative fFN testing showed no predictive value for preterm birth after fSB repair and was stopped. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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11 pages, 980 KiB  
Article
The Value of Delta Middle Cerebral Artery Peak Systolic Velocity for the Prediction of Twin Anemia-Polycythemia Sequence—Analysis of a Heterogenous Cohort of Monochorionic Twins
by Anthea de Sainte Fare, Ivonne Bedei, Aline Wolter, Johanna Schenk, Ellydda Widriani, Corinna Keil, Siegmund Koehler, Franz Bahlmann, Brigitte Strizek, Ulrich Gembruch, Christoph Berg and Roland Axt-Fliedner
J. Clin. Med. 2022, 11(24), 7541; https://doi.org/10.3390/jcm11247541 - 19 Dec 2022
Viewed by 1461
Abstract
Introduction: Twin anemia-polycythemia sequence (TAPS) is a complication in monochorionic-diamniotic (MCDA) twin pregnancies. This study analyzes whether the prenatal diagnosis using delta middle cerebral artery-peak systolic velocity (MCA-PSV) > 0.5 multiples of the median (MoM) (delta group) detects more TAPS cases than the [...] Read more.
Introduction: Twin anemia-polycythemia sequence (TAPS) is a complication in monochorionic-diamniotic (MCDA) twin pregnancies. This study analyzes whether the prenatal diagnosis using delta middle cerebral artery-peak systolic velocity (MCA-PSV) > 0.5 multiples of the median (MoM) (delta group) detects more TAPS cases than the guideline-based diagnosis using the MCA-PSV cut off levels of >1.5 and <1.0 MoM (cut-off group), in a heterogenous group of MCDA twins. Methods: A retrospective analysis of 348 live-born MCDA twin pregnancies from 2010 to 2021 with available information on MCA-PSV within one week before delivery and hemoglobin-values within 24 h postnatally were considered eligible. Results: Among postnatal confirmed twin pairs with TAPS, the cut-off group showed lower sensitivity than the delta group (33% vs. 82%). Specificity proved higher in the cut-off group with 97% than in the delta group at 86%. The risk that a TAPS is mistakenly not recognized prenatally is higher in the cut-off group than in the delta group (52% vs. 18%). Conclusions: Our data shows that delta MCA-PSV > 0.5 MoM detects more cases of TAPS, which would not have been diagnosed prenatally according to the current guidelines. In the collective examined in the present study, TAPS diagnostics using delta MCA-PSV proved to be a more robust method. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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13 pages, 1080 KiB  
Article
Cord Blood Cardiovascular Biomarkers in Left-Sided Congenital Heart Disease
by Iris Soveral, Laura Guirado, Maria C. Escobar-Diaz, María José Alcaide, Josep Maria Martínez, Víctor Rodríguez-Sureda, Bart Bijnens, Eugenia Antolin, Elisa Llurba, Jose L. Bartha, Olga Gómez and Fàtima Crispi
J. Clin. Med. 2022, 11(23), 7119; https://doi.org/10.3390/jcm11237119 - 30 Nov 2022
Cited by 1 | Viewed by 1690
Abstract
Fetal echocardiography has limited prognostic ability in the evaluation of left-sided congenital heart defects (left heart defects). Cord blood cardiovascular biomarkers could improve the prognostic evaluation of left heart defects. A multicenter prospective cohort (2013–2019) including fetuses with left heart defects (aortic coarctation, [...] Read more.
Fetal echocardiography has limited prognostic ability in the evaluation of left-sided congenital heart defects (left heart defects). Cord blood cardiovascular biomarkers could improve the prognostic evaluation of left heart defects. A multicenter prospective cohort (2013–2019) including fetuses with left heart defects (aortic coarctation, aortic stenosis, hypoplastic left heart, and multilevel obstruction (complex left heart defects) subdivided according to their outcome (favorable vs. poor), and control fetuses were evaluated in the third trimester of pregnancy at three referral centers in Spain. Poor outcome was defined as univentricular palliation, heart transplant, or death. Cord blood concentrations of N-terminal precursor of B-type natriuretic peptide, Troponin I, transforming growth factor β, placental growth factor, and soluble fms-like tyrosine kinase-1 were determined. A total of 45 fetuses with left heart defects (29 favorable and 16 poor outcomes) and 35 normal fetuses were included, with a median follow-up of 3.1 years (interquartile range 1.4–3.9). Left heart defects with favorable outcome showed markedly increased cord blood transforming growth factor β (normal heart median 15.5 ng/mL (6.8–21.4) vs. favorable outcome 51.7 ng/mL (13.8–73.9) vs. poor outcome 25.1 ng/mL (6.9–39.0), p = 0.001) and decreased placental growth factor concentrations (normal heart 17.9 pg/mL (13.8–23.9) vs. favorable outcome 12.8 pg/mL (11.7–13.6) vs. poor outcome 11.0 pg/mL (8.8–15.4), p < 0.001). Poor outcome left heart defects had higher N-terminal precursor of B-type natriuretic peptide (normal heart 508.0 pg/mL (287.5–776.3) vs. favorable outcome 617.0 pg/mL (389.8–1087.8) vs. poor outcome 1450.0 pg/mL (919.0–1645.0), p = 0.001) and drastically reduced soluble fms-like tyrosine kinase-1 concentrations (normal heart 1929.7 pg/mL (1364.3–2715.8) vs. favorable outcome (1848.3 pg/mL (646.9–2313.6) vs. poor outcome 259.0 pg/mL (182.0–606.0), p < 0.001). Results showed that fetuses with left heart defects present a distinct cord blood biomarker profile according to their outcome. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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5 pages, 523 KiB  
Communication
Longitudinal Surveillance of Fetal Heart Failure Using Speckle Tracking Analysis
by Julia Murlewska, Oskar Sylwestrzak, Maria Respondek-Liberska, Mark Sklansky and Greggory Devore
J. Clin. Med. 2022, 11(23), 7102; https://doi.org/10.3390/jcm11237102 - 30 Nov 2022
Cited by 2 | Viewed by 1423
Abstract
Long-term monitoring of a fetus with heart failure is an undeniable challenge for prenatal cardiology. Echocardiography is constrained by many fetal and maternal factors, and it is difficult to maintain the reproducibility of the measured and analyzed parameters. In our study, we presented [...] Read more.
Long-term monitoring of a fetus with heart failure is an undeniable challenge for prenatal cardiology. Echocardiography is constrained by many fetal and maternal factors, and it is difficult to maintain the reproducibility of the measured and analyzed parameters. In our study, we presented the possibilities of using modern speckle tracking technology in combination with standard echocardiography parameters that may be insufficient or less sensitive in the context of monitoring life-threatening fetal conditions. Our analysis shows the superiority of the parameters used to assess fetal cardiac architecture, such as the GSI Global sphericity Index, and fetal cardiac function, such as the FAC fractional area change and the EF ejection fraction, which temporal change may indicate a worsening condition of the fetus with heart failure. The significant increase in the parameters of fetal heart size in speckle tracking allows for an improved echocardiographic diagnosis and monitoring of the fetus with heart failure and the prognostic conclusions about the clinical condition after birth. Significant decreases in FAC for the left and right ventricles and EF for the left ventricle may indicate an unfavourable prognosis for the monitored fetus due to heart failure. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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7 pages, 641 KiB  
Article
Stage 2: The Vaginal Flora in Women Undergoing Fetal Spina Bifida Repair and Its Potential Association with Preterm Rupture of Membranes and Preterm Birth
by Fanny Tevaearai, Maike Katja Sachs, Samia El-Hadad, Ladina Vonzun, Ueli Moehrlen, Luca Mazzone, Martin Meuli, Franziska Krähenmann and Nicole Ochsenbein-Kölble
J. Clin. Med. 2022, 11(23), 7038; https://doi.org/10.3390/jcm11237038 - 28 Nov 2022
Viewed by 888
Abstract
Introduction: Vaginal dysbiosis affects pregnancy outcomes, however, the relevance of abnormal findings on pre/post-surgical vaginal culture in women undergoing fetal spina bifida (fSB) repair is unknown. Objectives: To describe the incidence of normal and abnormal pre- and post-surgical vaginal microorganisms in fSB patients [...] Read more.
Introduction: Vaginal dysbiosis affects pregnancy outcomes, however, the relevance of abnormal findings on pre/post-surgical vaginal culture in women undergoing fetal spina bifida (fSB) repair is unknown. Objectives: To describe the incidence of normal and abnormal pre- and post-surgical vaginal microorganisms in fSB patients and to investigate potential associations between the type of vaginal flora and the occurrence of preterm prelabour rupture of membranes (PPROM) and preterm birth (PTB). Methods: 99 women undergoing fSB repair were eligible (2010–2019). Pre-surgical vaginal culture was routinely taken before surgery. Post-surgical cultures were taken on indication. Vaginal flora was categorized into four categories: healthy vaginal flora (HVF), bacterial vaginosis (BV), desquamative inflammatory vaginitis (DIV), and yeast infection. Results: The incidence of HVF, BV, DIV, or yeast infections was not statistically different between the pre- and postoperative patients. Furthermore, an abnormal pre/post-surgical vaginal flora was not associated with PPROM (OR 1.57 (0.74–3.32), p = 0.213)/OR 1.26 (0.62–2.55), p = 0.515), or with PTB (OR 1.19 (0.82–1.73), p = 0.315)/(OR 0.86 (0.60–1.24), p = 0.425). Conclusions: Abnormal vaginal microbiome was not associated with PPROM and PTB when appropriate treatment was performed. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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13 pages, 2115 KiB  
Article
ABO Incompatibility between the Mother and Fetus Does Not Protect against Anti-Human Platelet Antigen-1a Immunization by Pregnancy
by Laila Miserre, Sandra Wienzek-Lischka, Andreas Mann, Nina Cooper, Sentot Santoso, Harald Ehrhardt, Ulrich J. Sachs and Gregor Bein
J. Clin. Med. 2022, 11(22), 6811; https://doi.org/10.3390/jcm11226811 - 17 Nov 2022
Cited by 1 | Viewed by 3254
Abstract
(1) Background: ABO blood group incompatibility between the mother and fetus protects against anti-D immunization by pregnancy. The possible role of ABO incompatibility in protecting against anti-human platelet antigen-1a immunization is unclear. (2) Methods: This study retrospectively screened 817 families (mother-father-neonate trios) of [...] Read more.
(1) Background: ABO blood group incompatibility between the mother and fetus protects against anti-D immunization by pregnancy. The possible role of ABO incompatibility in protecting against anti-human platelet antigen-1a immunization is unclear. (2) Methods: This study retrospectively screened 817 families (mother-father-neonate trios) of suspected fetal and neonatal alloimmune thrombocytopenia for inclusion. ABO genotypes were determined in 118 mother-child pairs with confirmed alloimmune thrombocytopenia due to anti-HPA-1a antibodies, and 522 mother-child pairs served as the control group. The expression of blood group antigen A on platelets was determined in 199 consecutive newborns by flow cytometry and compared with adult controls. (3) Results: ABO incompatibility between mother and fetus did not protect against anti-human platelet antigen-1a immunization by pregnancy. ABO blood groups of mothers and/or fetuses were not associated with the severity of fetal and neonatal alloimmune thrombocytopenia. The expression pattern of blood group A antigens on the platelets of newborns mirrored that of adults, albeit on a lower level. Blood group A antigen was detected on a subpopulation of neonatal platelets, and some newborns revealed high platelet expression of A determinants on all platelets (type II high-expressers). (4) Conclusion: The lack of a protective effect of ABO incompatibility between mother and fetus against anti-human platelet antigen-1a immunization by pregnancy may indicate that fetal platelets are not the cellular source by which the mother is immunized. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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10 pages, 510 KiB  
Article
The UA Doppler Index, Plasma HCY, and Cys C in Pregnancies Complicated by Congenital Heart Disease of the Fetus
by Xiaona Xu, Baoying Ye, Min Li, Yuanqing Xia, Yi Wu and Weiwei Cheng
J. Clin. Med. 2022, 11(19), 5962; https://doi.org/10.3390/jcm11195962 - 10 Oct 2022
Cited by 1 | Viewed by 1210
Abstract
Background: Congenital heart disease/defect (CHD) is one of the most common congenital disabilities. Early diagnosis of CHD can improve the prognosis of newborns with CHD. The aim of this study was to evaluate the relationship between the factors and the onset of fetal [...] Read more.
Background: Congenital heart disease/defect (CHD) is one of the most common congenital disabilities. Early diagnosis of CHD can improve the prognosis of newborns with CHD. The aim of this study was to evaluate the relationship between the factors and the onset of fetal congenital heart disease by measuring fetal umbilical artery (UA) Doppler index, maternal HCY, and Cys C levels during pregnancy. Methods: This retrospective study analyzed 202 fetuses with CHD, including 77 cases (39.1%) of simple CHD and 120 cases (60.9%) of complex CHD. Singleton pregnant women who were examined at the same time and whose malformation screening did not suggest any structural abnormalities in the fetus were assigned to the control group (n = 400). The UA Doppler index, plasma HCY, and Cys C levels were compared among the pregnant women across the three groups, and logistic regression analysis was performed on statistically significant markers. The ROC of UA S/D, PI, RI, HCY, and Cys C were plotted, and the area under the ROC (AUC) was calculated. Results: The UA S/D, PI, and RI in the complex CHD group were significantly higher than those in the control group (p < 0.05). The levels of HCY and Cys C in the CHD group were significantly higher than those in the control group (p < 0.05). HCY and S/D revealed a positive correlation (r = 0.157), and the difference was statistically significant (p < 0.001). Cys C and S/D were positively correlated (r = 0.131), and the difference was statistically significant (p < 0.05). The levels of UA Doppler indices, maternal plasma HCY, and Cys C were elevated in fetuses with CHD. The AUC of the combined test of the UA index, HCY, and Cys C was higher than that of each individual test. Conclusions: Elevated levels of the UA doppler indices, HCY, and Cys C during pregnancy are positively associated with the development of congenital heart disease in offspring. The combination of HCY and Cys C was the most efficient test for the diagnosis of CHD. We are the first to report that plasma Cys C levels of women pregnant with fetuses with CHD were higher than those of women pregnant with normal fetuses. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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9 pages, 886 KiB  
Article
A Predictive Model for Large-for-Gestational-Age Infants among Korean Women with Gestational Diabetes Mellitus Using Maternal Characteristics and Fetal Biometric Parameters
by Hee-Sun Kim, Soo-Young Oh, Geum Joon Cho, Suk-Joo Choi, Soon Cheol Hong, Ja-Young Kwon and Han Sung Kwon
J. Clin. Med. 2022, 11(17), 4951; https://doi.org/10.3390/jcm11174951 - 23 Aug 2022
Viewed by 1202
Abstract
Background: With increasing incidence of gestational diabetes mellitus (GDM), newborn infants with perinatal morbidity, including large-for-gestational-age (LGA) or macrosomia, are also increasing. The purpose of this study was to develop a prediction model for LGA infants with GDM mothers. Methods: This was a [...] Read more.
Background: With increasing incidence of gestational diabetes mellitus (GDM), newborn infants with perinatal morbidity, including large-for-gestational-age (LGA) or macrosomia, are also increasing. The purpose of this study was to develop a prediction model for LGA infants with GDM mothers. Methods: This was a retrospective case-control study of 660 women with GDM and singleton pregnancies in four tertiary care hospitals from 2006 to 2013 in Korea. Biometric parameters were obtained at diagnoses of GDM and within two weeks before delivery. These biometric data were all transformed retrospectively into Z-scores calculated using a reference. Interval changes of values between the two periods were obtained. Multivariable logistic and stepwise backwards regression analyses were performed to develop the most parsimonious predictive model. The prediction model included pre-pregnancy body mass index (BMI), head circumference (HC), Z-score at 24 + 0 to 30 + 6 weeks’ gestation, and abdominal circumference (AC) Z-score at 34 + 0 to 41 + 6 weeks within 2 weeks before delivery. The developed model was then internally validated. Results: Our model’s predictive performance (area under the curve (AUC): 0.925) was higher than estimated fetal weight (EFW) within two weeks before delivery (AUC: 0.744) and the interval change of EFW Z-score between the two periods (AUC: 0.874). It was internally validated (AUC: 0.916). Conclusions: A clinical model was developed and internally validated to predict fetal overgrowth in Korean women with GDM, which showed a relatively good performance. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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8 pages, 431 KiB  
Article
Is Fetal Hydrops in Turner Syndrome a Risk Factor for the Development of Maternal Mirror Syndrome?
by Ivonne Alexandra Bedei, Alexander Graf, Karl-Philipp Gloning, Matthias Meyer-Wittkopf, Daria Willner, Martin Krapp, Sabine Hentze, Alexander Scharf, Jan Degenhardt, Kai-Sven Heling, Peter Kozlowski, Kathrin Trautmann, Kai Jahns, Anne Geipel, Ismail Tekesin, Michael Elsässer, Lucas Wilhelm, Ingo Gottschalk, Jan-Erik Baumüller, Cahit Birdir, Felix Zöllner, Aline Wolter, Johanna Schenk, Tascha Gehrke, Corinna Keil, Jimmy Espinosa and Roland Axt-Fliedneradd Show full author list remove Hide full author list
J. Clin. Med. 2022, 11(15), 4588; https://doi.org/10.3390/jcm11154588 - 05 Aug 2022
Cited by 2 | Viewed by 2233
Abstract
Mirror syndrome is a rare and serious maternal condition associated with immune and non-immune fetal hydrops after 16 weeks of gestational age. Subjacent conditions associated with fetal hydrops may carry different risks for Mirror syndrome. Fetuses with Turner syndrome are frequently found to [...] Read more.
Mirror syndrome is a rare and serious maternal condition associated with immune and non-immune fetal hydrops after 16 weeks of gestational age. Subjacent conditions associated with fetal hydrops may carry different risks for Mirror syndrome. Fetuses with Turner syndrome are frequently found to be hydropic on ultrasound. We designed a retrospective multicenter study to evaluate the risk for Mirror syndrome among pregnancies complicated with Turner syndrome and fetal hydrops. Data were extracted from a questionnaire sent to specialists in maternal fetal medicine in Germany. Out of 758 cases, 138 fulfilled our inclusion criteria and were included in the analysis. Of the included 138, 66 presented with persisting hydrops at or after 16 weeks. The frequency of placental hydrops/placentomegaly was rather low (8.1%). Of note, no Mirror syndrome was observed in our study cohort. We propose that the risk of this pregnancy complication varies according to the subjacent cause of fetal hydrops. In Turner syndrome, the risk for Mirror syndrome is lower than that reported in the literature. Our observations are relevant for clinical management and parental counseling. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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11 pages, 312 KiB  
Article
Can Thyroid Screening in the First Trimester Improve the Prediction of Gestational Diabetes Mellitus?
by Zagorka Milovanović, Dejan Filimonović, Ivan Soldatović and Nataša Karadžov Orlić
J. Clin. Med. 2022, 11(13), 3916; https://doi.org/10.3390/jcm11133916 - 05 Jul 2022
Cited by 2 | Viewed by 1819
Abstract
This study aimed to evaluate the clinical utility of the subclinical hypothyroidism (SCH) marker, elevated thyroid-stimulating hormone (TSH) and thyroid antibodies in their ability to predict subsequent gestational diabetes mellitus (GDM). In a prospective clinical trial, 230 pregnant women were screened for thyroid [...] Read more.
This study aimed to evaluate the clinical utility of the subclinical hypothyroidism (SCH) marker, elevated thyroid-stimulating hormone (TSH) and thyroid antibodies in their ability to predict subsequent gestational diabetes mellitus (GDM). In a prospective clinical trial, 230 pregnant women were screened for thyroid function during the first trimester of pregnancy. Increased TSH levels with normal free thyroxine (fT4) were considered SCH. The titers of thyroid peroxidase antibody (anti TPO Ab) at >35 IU/mL and thyroglobulin antibody (anti Tg Ab) at >115 IU/mL were considered as antibodies present. According to the OGTT results, the number of pregnant women with GDM showed the expected growth trend, which was 19%. Two groups of pregnant women were compared, one with GDM and the other without. Increased TSH levels and the presence of thyroid antibodies showed a positive correlation with the risk of GDM. TSH levels were significantly higher in pregnant women with GDM, p = 0.027. In this study, 25.6% of pregnant women met the diagnostic criteria for autoimmune thyroiditis. Hashimoto’s thyroiditis was significantly more common in GDM patients, p < 0.001. Through multivariate logistic regression, it was demonstrated that patient age, TSH 4 IU/mL, and anti TPO Ab > 35 IU/mL are significant predictors of gestational diabetes mellitus that may improve first-trimester pregnancy screening performance, AUC: 0.711; 95% CI: 0.629–0.793. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
10 pages, 1783 KiB  
Article
Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
by Maria Isabel Alvarez-Mora, Ines Agusti, Robin Wijngaard, Estefania Martinez-Barrios, Tamara Barcos, Aina Borras, Sara Peralta, Marta Guimera, Ana Goday, Dolors Manau and Laia Rodriguez-Revenga
J. Clin. Med. 2022, 11(8), 2186; https://doi.org/10.3390/jcm11082186 - 14 Apr 2022
Cited by 3 | Viewed by 1421
Abstract
Female FMR1 (Fragile X mental retardation 1) premutation carriers are at risk for developing fragile X-associated primary ovarian insufficiency (FXPOI), a condition characterized by amenorrhea before age 40 years. Not all women with a FMR1 premutation suffer from primary ovarian insufficiency and nowadays [...] Read more.
Female FMR1 (Fragile X mental retardation 1) premutation carriers are at risk for developing fragile X-associated primary ovarian insufficiency (FXPOI), a condition characterized by amenorrhea before age 40 years. Not all women with a FMR1 premutation suffer from primary ovarian insufficiency and nowadays there are no molecular or other biomarkers that can help predict the occurrence of FXPOI. Long non-coding RNAs (lncRNAs) comprise a group of regulatory transcripts which have versatile molecular functions, making them important regulators in all aspects of gene expression. In recent medical studies, lncRNAs have been described as potential diagnostic biomarkers in many diseases. The present study was designed to determine the expression profile of three lncRNAs derived from the FMR1 locus, FMR4, FMR5 and FMR6, in female FMR1 premutation carriers in order: (i) to determine a possible role in the pathogenesis of FXPOI and (ii) to investigate whether they could serve as a biomarker for the diagnosis of FXPOI. FMR4, FMR5 and FMR6 transcripts levels were evaluated in total RNA extracted from peripheral blood by digital droplet PCR and compared between FMR1 premutation carriers with FXPOI and without FXPOI. The diagnostic value of lncRNAs was evaluated by receiver operating characteristic (ROC) analysis. Results revealed a significant association between FXPOI and high expression levels of FMR4. No association was obtained for FMR5 or FMR6. ROC curve analysis revealed that FMR4 can distinguish FMR1 premutation carrier with FXPOI with a diagnostic power of 0.67. These findings suggest a potential role of FMR4 as a possible biomarker for FXPOI. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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12 pages, 477 KiB  
Article
First-Trimester Fetal Hepatic Artery Examination for Adverse Outcome Prediction
by Bartosz Czuba, Piotr Tousty, Wojciech Cnota, Dariusz Borowski, Agnieszka Jagielska, Mariusz Dubiel, Anna Fuchs, Magda Fraszczyk-Tousty, Sylwia Dzidek, Anna Kajdy, Grzegorz Świercz and Sebastian Kwiatkowski
J. Clin. Med. 2022, 11(8), 2095; https://doi.org/10.3390/jcm11082095 - 08 Apr 2022
Viewed by 2223
Abstract
Objective: To assess whether there are differences in first-trimester fetal hepatic artery flows depending on pregnancy outcomes. Methods: The prospective study conducted in 2012–2020 included 1841 fetuses from singleton pregnancies assessed during the routine first-trimester ultrasound examination (between 11- and 14-weeks’ gestation). Also, [...] Read more.
Objective: To assess whether there are differences in first-trimester fetal hepatic artery flows depending on pregnancy outcomes. Methods: The prospective study conducted in 2012–2020 included 1841 fetuses from singleton pregnancies assessed during the routine first-trimester ultrasound examination (between 11- and 14-weeks’ gestation). Also, each fetus was examined to determine their hepatic artery flows by measuring the artery’s pulsatility index (HA-PI) and peak systolic velocity (HA-PSV). Results: The fetuses that were classified as belonging to the adverse pregnancy outcome group (those with karyotype abnormalities and congenital heart defects) were characterized by a significantly lower HA-PI and higher HA-PSV compared to normal outcome fetuses. Conclusion: Hepatic artery flow assessment proved to be a very useful tool in predicting adverse pregnancy outcomes, in particular karyotype abnormalities and congenital heart defects. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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7 pages, 640 KiB  
Article
Analysis of Preventable Risk Factors for Toxoplasma gondii Infection in Pregnant Women: Case-Control Study
by Carlo Bieńkowski, Małgorzata Aniszewska, Monika Kowalczyk, Jolanta Popielska, Konrad Zawadka, Agnieszka Ołdakowska and Maria Pokorska-Śpiewak
J. Clin. Med. 2022, 11(4), 1105; https://doi.org/10.3390/jcm11041105 - 19 Feb 2022
Cited by 8 | Viewed by 2829
Abstract
Background: Toxoplasma gondii (TG) is a parasitic protozoon that may cause miscarriages or birth defects if the infection occurs during pregnancy. The study’s aim was to evaluate the risk factors associated with TG infection in pregnant women. Materials: Medical charts for all 273 [...] Read more.
Background: Toxoplasma gondii (TG) is a parasitic protozoon that may cause miscarriages or birth defects if the infection occurs during pregnancy. The study’s aim was to evaluate the risk factors associated with TG infection in pregnant women. Materials: Medical charts for all 273 pregnant women with suspected TG infection consecutively admitted to the Hospital of Warsaw between 2019 and 2020 were retrospectively analyzed. The presumptive TG diagnosis was verified by a serologic assessment of IgM and IgG titers, and IgG affinity tests. Results: The median age was 32 years (range: 19–42 years). The diagnosis of primary TG infection was confirmed in 74/273 (27.1%) women. In 114/273 (41.8%) there was evidence of past infection. In 71/273 (26%) women, an infection was excluded. In 172/273 (62%) women the recommended testing for other infectious diseases putting fetus development at risk was performed correctly. Logistic regression model analysis revealed that living in rural areas and eating raw meat were independent factors associated with increased risk of TG infection during pregnancy (OR 2.89, 95% CI: 1.42–5.9, p = 0.004; and OR 2.07, 95% CI: 1.03–4.18, p = 0.04, respectively). Conclusions: The independent risk factors for TG infection during pregnancy include living in rural areas and eating raw meat. The physician’s educational role here is crucial for the efficient prevention of congenital toxoplasmosis. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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Review

Jump to: Research, Other

10 pages, 260 KiB  
Review
Pregnant Women at Low Risk of Having a Child with Fetal and Neonatal Alloimmune Thrombocytopenia Do Not Require Treatment with Intravenous Immunoglobulin
by Jens Kjeldsen-Kragh, Gregor Bein and Heidi Tiller
J. Clin. Med. 2023, 12(17), 5492; https://doi.org/10.3390/jcm12175492 - 24 Aug 2023
Viewed by 794
Abstract
Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a rare condition in which maternal alloantibodies to fetal platelets cause fetal thrombocytopenia that may lead to intracranial hemorrhage (ICH). Off-label intravenous immunoglobulin (IVIg) has for 30 years been the standard of care for pregnant women [...] Read more.
Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a rare condition in which maternal alloantibodies to fetal platelets cause fetal thrombocytopenia that may lead to intracranial hemorrhage (ICH). Off-label intravenous immunoglobulin (IVIg) has for 30 years been the standard of care for pregnant women who previously have had a child with FNAIT. The efficacy of this treatment has never been tested in a placebo-controlled clinical trial. Although IVIg treatment may improve the neonatal outcome in women who previously have had a child with FNAIT-associated ICH, the question is whether IVIg is necessary for all immunized pregnant women at risk of having a child with FNAIT. The results from some recent publications suggest that antenatal IVIg treatment is not necessary for women who are (1) HPA-1a-immunized and HLA-DRB3*01:01-negative, (2) HPA-1a-immunized with a previous child with FNAIT but without ICH or (3) HPA-5b-immunized. If IVIg is not used for these categories of pregnant women, the amount of IVIg used in pregnant women with platelet antibodies would be reduced to less than ¼ of today’s use. This is important because IVIg is a scarce resource, and the collection of plasma for the treatment of one pregnant woman is not only extremely expensive but also requires tremendous donor efforts. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
9 pages, 1310 KiB  
Review
The Evolution and Developing Importance of Fetal Magnetic Resonance Imaging in the Diagnosis of Congenital Cardiac Anomalies: A Systematic Review
by Marios Mamalis, Ivonne Bedei, Bjoern Schoennagel, Fabian Kording, Justus G. Reitz, Aline Wolter, Johanna Schenk and Roland Axt-Fliedner
J. Clin. Med. 2022, 11(23), 7027; https://doi.org/10.3390/jcm11237027 - 28 Nov 2022
Cited by 2 | Viewed by 1594
Abstract
Magnetic Resonance Imaging (MRI) is a reliable method, with a complementary role to Ultrasound (US) Echocardiography, that can be used to fully comprehend and precisely diagnose congenital cardiac malformations. Besides the anatomical study of the fetal cardiovascular system, it allows us to study [...] Read more.
Magnetic Resonance Imaging (MRI) is a reliable method, with a complementary role to Ultrasound (US) Echocardiography, that can be used to fully comprehend and precisely diagnose congenital cardiac malformations. Besides the anatomical study of the fetal cardiovascular system, it allows us to study the function of the fetal heart, remaining, at the same time, a safe adjunct to the classic fetal echocardiography. MRI also allows for the investigation of cardiac and placental diseases by providing information about hematocrit, oxygen saturation, and blood flow in fetal vessels. It is crucial for fetal medicine specialists and pediatric cardiologists to closely follow the advances of fetal cardiac MRI in order to provide the best possible care. In this review, we summarize the advance in techniques and their practical utility to date. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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12 pages, 264 KiB  
Review
Noninvasive Prenatal Testing in Immunohematology—Clinical, Technical and Ethical Considerations
by Jens Kjeldsen-Kragh and Åsa Hellberg
J. Clin. Med. 2022, 11(10), 2877; https://doi.org/10.3390/jcm11102877 - 19 May 2022
Cited by 2 | Viewed by 2042
Abstract
Hemolytic disease of the fetus and newborn (HDFN), as well as fetal and neonatal alloimmune thrombocytopenia (FNAIT), represent two important disease entities that are caused by maternal IgG antibodies directed against nonmaternally inherited antigens on the fetal blood cells. These antibodies are most [...] Read more.
Hemolytic disease of the fetus and newborn (HDFN), as well as fetal and neonatal alloimmune thrombocytopenia (FNAIT), represent two important disease entities that are caused by maternal IgG antibodies directed against nonmaternally inherited antigens on the fetal blood cells. These antibodies are most frequently directed against the RhD antigen on red blood cells (RBCs) or the human platelet antigen 1a (HPA-1a) on platelets. For optimal management of pregnancies where HDFN or FNAIT is suspected, it is essential to determine the RhD or the HPA-1a type of the fetus. Noninvasive fetal RhD typing is also relevant for identifying which RhD-negative pregnant women should receive antenatal RhD prophylaxis. In this review, we will give an overview of the clinical indications and technical challenges related to the noninvasive analysis of fetal RBCs or platelet types. In addition, we will discuss the ethical implications associated with the routine administration of antenatal RhD to all pregnant RhD-negative women and likewise the ethical challenges related to making clinical decisions concerning the mother that have been based on samples collected from the (presumptive) father, which is a common practice when determining the risk of FNAIT. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
13 pages, 2811 KiB  
Review
Ultrasound Markers for Complex Gastroschisis: A Systematic Review and Meta-Analysis
by Rui Gilberto Ferreira, Carolina Rodrigues Mendonça, Carolina Leão de Moraes, Fernanda Sardinha de Abreu Tacon, Lelia Luanne Gonçalves Ramos, Natalia Cruz e Melo, Lourenço Sbragia, Waldemar Naves do Amaral and Rodrigo Ruano
J. Clin. Med. 2021, 10(22), 5215; https://doi.org/10.3390/jcm10225215 - 09 Nov 2021
Cited by 8 | Viewed by 3327
Abstract
Although gastroschisis is often diagnosed by prenatal ultrasound, there is still a gap in the literature about which prenatal ultrasound markers can predict complex gastroschisis. This systematic review and meta-analysis aimed to investigate the ultrasound markers that characterize complex gastroschisis. A systematic review [...] Read more.
Although gastroschisis is often diagnosed by prenatal ultrasound, there is still a gap in the literature about which prenatal ultrasound markers can predict complex gastroschisis. This systematic review and meta-analysis aimed to investigate the ultrasound markers that characterize complex gastroschisis. A systematic review of the literature was conducted according to the guidelines of PRISMA. The protocol was registered (PROSPERO ID CRD42020211685). Meta-analysis was displayed graphically on Forest plots, which estimate prevalence rates and risk ratios, with 95% confidence intervals, using STATA version 15.0. The combined prevalence of intestinal complications in fetuses with complex gastroschisis was 27.0%, with a higher prevalence of atresia (about 48%), followed by necrosis (about 25%). The prevalence of deaths in newborns with complex gastroschisis was 15.0%. The predictive ultrasound markers for complex gastroschisis were intraabdominal bowel dilatation (IABD) (RR 3.01, 95% CI 2.22 to 4.07; I2 = 15.7%), extra-abdominal bowel dilatation (EABD) (RR 1.55, 95% CI 1.01 to 2.39; I2 = 77.1%), and polyhydramnios (RR 3.81, 95% CI 2.09 to 6.95; I2 = 0.0%). This review identified that IABD, EABD, and polyhydramnios were considered predictive ultrasound markers for complex gastroschisis. However, evidence regarding gestational age at the time of diagnosis is needed. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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Other

Jump to: Research, Review

15 pages, 5086 KiB  
Systematic Review
Analysis of Clinical Profiles and Echocardiographic Cardiac Outcomes in Peripartum Cardiomyopathy (PPCM) vs. PPCM with Co-Existing Hypertensive Pregnancy Disorder (HPD-PPCM) Patients: A Systematic Review and Meta-Analysis
by Annisa Dewi Nugrahani, Sidik Maulana, Kevin Dominique Tjandraprawira, Dhanny Primantara Johari Santoso, Dani Setiawan, Adhi Pribadi, Amillia Siddiq, Akhmad Yogi Pramatirta, Muhammad Alamsyah Aziz and Setyorini Irianti
J. Clin. Med. 2023, 12(16), 5303; https://doi.org/10.3390/jcm12165303 - 15 Aug 2023
Viewed by 997
Abstract
Peripartum cardiomyopathy (PPCM) is a form of new-onset heart failure that has a high rate of maternal morbidity and mortality. This was the first study to systematically investigate and compare clinical factors and echocardiographic findings between women with PPCM and co-incident hypertensive pregnancy [...] Read more.
Peripartum cardiomyopathy (PPCM) is a form of new-onset heart failure that has a high rate of maternal morbidity and mortality. This was the first study to systematically investigate and compare clinical factors and echocardiographic findings between women with PPCM and co-incident hypertensive pregnancy disorders (HPD-PPCM) and PPCM-only women. We followed the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) framework. We used four databases and a single search engine, namely PubMed/Medline, Scopus, Web of Science, and Cochrane. We used Cochrane Risk of Bias (RoB) 2.0 for quality assessment. Databases were searched for relevant articles published from 2013 to the end of April 2023. The meta-analysis used the DerSimonian–Laird random-effects model to analyze the pooled mean difference (MD) and its p-value. We included four studies with a total of 64,649 participants and found that systolic blood pressure was significantly more likely to be associated with the PPCM group than the HPD-PPCM group (SMD = −1.63) (95% CI; −4.92,0.28, p = 0.01), while the other clinical profiles were not significant. HPD-PPCM was less likely to be associated with LVEF reduction (SMD = −1.55, [CI: −2.89, −0.21], p = 0.02). HPD-PPCM was significantly associated with less LV dilation (SMD = 1.81; 95% (CI 0.07–3.01), p = 0.04). Moreover, HPD-PPCM was less likely to be associated with relative wall thickness reduction (SMD = 0.70; 95% CI (−1.08–−0.33), p = 0.0003). In conclusion, PPCM and HPD-PPCM shared different clinical profiles and remodeling types, which may affect each disease’s response to pharmacological treatment. Patients with HPD-PPCM exhibited less eccentric remodeling and seemed to have a higher chance of recovering their LV ejection fraction, which means they might not benefit as much from ACEi/ARB and beta-blockers. The findings of this study will guide the development of guidelines for women with PPCM and HPD-PPCM from early detection to further management. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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11 pages, 4130 KiB  
Case Report
Fetal Brain Tumors, a Challenge in Prenatal Diagnosis, Counselling, and Therapy
by Ivonne Alexandra Bedei, Thierry A. G. M. Huisman, William Whitehead, Roland Axt-Fliedner, Michael Belfort and Magdalena Sanz Cortes
J. Clin. Med. 2023, 12(1), 58; https://doi.org/10.3390/jcm12010058 - 21 Dec 2022
Cited by 1 | Viewed by 2994
Abstract
Fetal brain tumors are a rare entity with an overall guarded prognosis. About 10% of congenital brain tumors are diagnosed during fetal life. They differ from the postnatally encountered pediatric brain tumors with respect to location and tumor type. Fetal brain tumors can [...] Read more.
Fetal brain tumors are a rare entity with an overall guarded prognosis. About 10% of congenital brain tumors are diagnosed during fetal life. They differ from the postnatally encountered pediatric brain tumors with respect to location and tumor type. Fetal brain tumors can be benign or malignant and infiltrate or displace adjacent brain structures. Due to their high mitotic rate, they can show rapid growth. Outcome depends on age of diagnosis, size, and histological tumor type. Findings like polyhydramnios and macrocephaly encountered on routine ultrasound are frequently associated. Detailed prenatal anomaly scan and subsequent fetal magnetic resonance imaging (MRI) may identify the brain tumor and its severity. Both maternal and fetal prognosis should be included in prenatal counselling and decision making. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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15 pages, 393 KiB  
Systematic Review
Analysis of Circulating C19MC MicroRNA as an Early Marker of Hypertension and Preeclampsia in Pregnant Patients: A Systematic Review
by Adrianna Kondracka, Ilona Jaszczuk, Dorota Koczkodaj, Bartosz Kondracki, Karolina Frąszczak, Anna Oniszczuk, Magda Rybak-Krzyszkowska, Jakub Staniczek, Agata Filip and Anna Kwaśniewska
J. Clin. Med. 2022, 11(23), 7051; https://doi.org/10.3390/jcm11237051 - 29 Nov 2022
Cited by 1 | Viewed by 1318
Abstract
Preeclampsia and hypertension complicate several pregnancies. Identifying women at risk of developing these conditions is essential to establish potential treatment modalities. Biomarkers such as C19MC microRNA in pregnant patients wopuld assist in defining pregnancy surveillance and implementing interventions. This study sought to analyze [...] Read more.
Preeclampsia and hypertension complicate several pregnancies. Identifying women at risk of developing these conditions is essential to establish potential treatment modalities. Biomarkers such as C19MC microRNA in pregnant patients wopuld assist in defining pregnancy surveillance and implementing interventions. This study sought to analyze circulating C19MC microRNA as an early marker of hypertension and preeclampsia in pregnant patients. A systematic review was undertaken using the following registers: disease registries, pregnancy registries, and pregnancy exposure registries, and the following databases: PubMed, CINAHL, Web of Science, Scopus, and EMBASE. The risk of bias was assessed using the Cochrane technique. From the 45 publications retrieved from the registers and databases, only 21 were included in the review after the removal of duplicates, screening, and eligibility evaluation. All 210 publications had a low risk of bias and illuminated the potential use of circulating C19MC microRNA as an early marker of hypertension and preeclampsia in pregnant patients. Therefore, it was concluded that C19MC microRNA can be used as an early marker of gestational preeclampsia and hypertension. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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8 pages, 1502 KiB  
Case Report
Enlarged Abdominal Lymph Node as a Cause of Polyhydramnios in the Course of Congenital Neonatal Leukaemia: A Case Report and Review of the Literature on Foetal Abdominal Tumours with Coexisting Polyhydramnios
by Daria Salloum, Paweł Jan Stanirowski, Aleksandra Symonides, Paweł Krajewski, Dorota Bomba-Opoń and Mirosław Wielgoś
J. Clin. Med. 2022, 11(21), 6598; https://doi.org/10.3390/jcm11216598 - 07 Nov 2022
Viewed by 1366
Abstract
Polyhydramnios represents a complication found in 0.2–2% of pregnancies, and it is usually diagnosed between 31 and 36 weeks of pregnancy. Although most cases of polyhydramnios are idiopathic, maternal diabetes or foetal malformations constitute frequent causes of the excessive accumulation of the amniotic [...] Read more.
Polyhydramnios represents a complication found in 0.2–2% of pregnancies, and it is usually diagnosed between 31 and 36 weeks of pregnancy. Although most cases of polyhydramnios are idiopathic, maternal diabetes or foetal malformations constitute frequent causes of the excessive accumulation of the amniotic fluid. Considering the latter, polyhydramnios may rarely be caused by foetal abdominal tumours, with the incidence rate of 2–14 cases per 100,000 live births. Congenital neonatal leukaemia (CNL) is a rare disease with a reported incidence rate of 5–8.6 cases per million live births. In the prenatal period, the ultrasound abnormalities associated with CNL include hepatomegaly and splenomegaly. In this paper, we presented a case of polyhydramnios caused by mechanical pressure on the foetal gastrointestinal tract by an enlarged lymph node in the course of CNL, as well as reviewing the available literature on foetal abdominal tumours with concurrent polyhydramnios. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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12 pages, 1144 KiB  
Case Report
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review
by Miriam Potrony, Antoni Borrell, Narcís Masoller, Alfons Nadal, Leonardo Rodriguez-Carunchio, Karmele Saez de Gordoa Elizalde, Juan Francisco Quesada-Espinosa, Jose Luis Villanueva-Cañas, Montse Pauta, Meritxell Jodar, Irene Madrigal, Celia Badenas, Maria Isabel Alvarez-Mora and Laia Rodriguez-Revenga
J. Clin. Med. 2022, 11(13), 3570; https://doi.org/10.3390/jcm11133570 - 21 Jun 2022
Viewed by 1652
Abstract
Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. [...] Read more.
Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report a fetus with ultrasound alterations detected at 28 weeks of gestation. The fetus exhibited hydrops, short long bones, fixed limb joints, absent fetal movements, and polyhydramnios. The pregnancy was terminated and postmortem studies confirmed the prenatal findings: distal arthrogryposis, fetal growth restriction, pulmonary hypoplasia, and retrognathia. The fetus had a normal chromosomal microarray analysis. Exome sequencing revealed two novel compound heterozygous variants in the GLDN associated with LCCS11. This manuscript reports this case and performs a literature review of all published LCCS11 cases. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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15 pages, 480 KiB  
Systematic Review
Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review
by Luca Zaninović, Marko Bašković, Davor Ježek and Ana Katušić Bojanac
J. Clin. Med. 2022, 11(12), 3350; https://doi.org/10.3390/jcm11123350 - 10 Jun 2022
Cited by 9 | Viewed by 2536
Abstract
Valid data on prenatal cell-free DNA-based screening tests for copy number variations and microdeletions are still insufficient. We aimed to compare different methodological approaches concerning the achieved diagnostic accuracy measurements and positive predictive values. For this systematic review, we searched the Scopus and [...] Read more.
Valid data on prenatal cell-free DNA-based screening tests for copy number variations and microdeletions are still insufficient. We aimed to compare different methodological approaches concerning the achieved diagnostic accuracy measurements and positive predictive values. For this systematic review, we searched the Scopus and PubMed databases and backward citations for studies published between 2013 and 4 February 2022 and included articles reporting the analytical and clinical performance of cfDNA screening tests for CNVs and microdeletions. Of the 1810 articles identified, 32 met the criteria. The reported sensitivity of the applied tests ranged from 20% to 100%, the specificity from 81.62% to 100%, and the PPV from 3% to 100% for cases with diagnostic or clinical follow-up information. No confirmatory analysis was available in the majority of cases with negative screening results, and, therefore, the NPVs could not be determined. NIPT for CNVs and microdeletions should be used with caution and any developments regarding new technologies should undergo strict evaluation before their implementation into clinical practice. Indications for testing should be in correlation with the application guidelines issued by international organizations in the field of prenatal diagnostics. Full article
(This article belongs to the Special Issue Update on Prenatal Diagnosis and Maternal Fetal Medicine)
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