Special Issue "Maternal-Fetal Medicine"

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 30 April 2022.

Special Issue Editors

Dr. Paolo Ivo Cavoretto
E-Mail Website
Guest Editor
IRCCS San Raffaele Hospital and University, Via Olgettina 62, 20132 Milan, Italy
Interests: obstetrics; pregnancy complications; Ultrasound; Doppler; fetal medicine and surgery; MRI; screening in pregnancy; congenital malformations; congenital heart defects; open spina bifida; fetal growth; preterm delivery; preeclampsia; pregnancy after medically assisted reproduction
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Antonio Farina
E-Mail Website
Guest Editor
Obstetric Unit, Department of Medical and Surgical Sciences, University of Bologna and IRCCS Azienda Ospedaliero-Universitaria Sant’ Orsola-Malpighi, Bologna, Italy
Interests: obstetrics; pregnancy complications; Ultrasound; Doppler; screening in pregnancy; fetal biometry; placental diseases, fetal DNA and miRNA

Special Issue Information

Dear Colleagues,

The profound and complex maternal-fetal interaction mediated by the placenta is both favoring normal fetal development and preserving maternal health during pregnancy. Consequently, simultaneous assessment of both components and their placental interface is critically important in order to predict, diagnose and treat abnormalities on each sides.

Ultrasound (with grey-scale, 3D, or Doppler studies), fetal Magnetic Resonance Imaging (with structural and functional assays), invasive procedures, placental hormones, and several innovative non-invasive biomarkers assessing either genetic material (including fetal cells, fetal DNA or miRNA), angiogenesis or cardiovascular function found the core of Diagnostics in this area. Maternal-Fetal Medicine defines a comprehensive framework synthesizing assessment of maternal and fetal health and is capable of optimizing management of the two concomitant patients.

The aim of this Special Issue of Diagnostics is to explore recent advances and developments in the fields of Maternal and Fetal Medicine, including all abnormalities of embryonic or fetal development, chronic or gestational maternal diseases, and combinations of both maternal and fetal conditions. Particular interest is present for the fields of fetal abnormalities, maternal and fetal issues of intrauterine fetal surgery, preeclampsia, preterm birth, stillbirth, abnormal fetal growth, molecular biology, maternal and fetal problems of multiple pregnancies, or medically assisted reproduction.

Submissions of original unpublished studies are welcome, including observational and interventional studies as well as RCTs and reviews, with an emphasis on relevant clinical questions and quantitative syntheses (meta-analyses) of pooled data. Authors are welcome to contact the Editorial Team in advance if they require any assistance for the preparation of their manuscript.

Dr. Paolo Cavoretto
Prof. Dr. Antonio Farina
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pregnancy
  • Ultrasound Doppler
  • fetal abnormalities
  • fetal medicine
  • fetal surgery
  • maternal health
  • maternal disease
  • fetal wellbeing
  • fetal growth
  • assisted reproductive technologies
  • MRI

Published Papers (11 papers)

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Research

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Article
Transmitted Fetal Immune Response in Cases of SARS-CoV-2 Infections during Pregnancy
Diagnostics 2022, 12(2), 245; https://doi.org/10.3390/diagnostics12020245 - 19 Jan 2022
Viewed by 105
Abstract
(1) Background: Little is known about the effects of SARS-CoV-2 on the placenta, and whether the maternal inflammatory response is transmitted vertically. This research aims to provide information about the effects of SARS-CoV-2 infection on maternal and fetal immunity. (2) Methods: We have [...] Read more.
(1) Background: Little is known about the effects of SARS-CoV-2 on the placenta, and whether the maternal inflammatory response is transmitted vertically. This research aims to provide information about the effects of SARS-CoV-2 infection on maternal and fetal immunity. (2) Methods: We have studied placental changes and humoral and cellular immunity in maternal and umbilical cord blood (UCB) samples from a group of pregnant women delivering after the diagnosis of SARS-CoV-2 infection during pregnancy. IgG and IgM SARS-CoV-2 antibodies, Interleukin 1b (IL1b), Interleukin 6 (IL6), and gamma-Interferon (IFN-γ), have been studied in the UCB samples. Lymphocyte subsets were studied according to CD3, CD8, CD4, CD34, and invariant natural Killer T cells (iNKT) markers. We used in situ hybridization techniques for the detection of viral RNA in placentas. (3) Results: During the study period, 79 pregnant women and their corresponding newborns were recruited. The main gestational age at the time of delivery was 39.1 weeks (SD 1.3). We did not find traces of the SARS-CoV-2 virus RNA in any of the analyzed placental samples. Detectable concentrations of IgG anti-SARS-CoV-2 antibodies, IL1b, IL6, and IFN-γ, in UCB were found in all cases, but IgM antibodies anti-ARS-CoV-2 were systematically undetectable. We found significant correlations between fetal CD3+ mononuclear cells and UCB IgG concentrations. We also found significant correlations between UCB IgG concentrations and fetal CD3+/CD4+, as well as CD3+/CD8+ T cells subsets. We also discovered that fetal CD3+/CD8+ cell counts were significantly higher in those cases with placental infarctions. (4) Conclusion: we have not verified the placental transfer of SARS-CoV-2. However, we have discovered that a significant immune response is being transmitted to the fetus in cases of SARS-CoV-2 maternal infection. Full article
(This article belongs to the Special Issue Maternal-Fetal Medicine)
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Article
Abnormal Circulating Maternal miRNA Expression Is Associated with a Low (<4%) Cell-Free DNA Fetal Fraction
Diagnostics 2021, 11(11), 2108; https://doi.org/10.3390/diagnostics11112108 - 14 Nov 2021
Viewed by 573
Abstract
The present pilot study investigates whether an abnormal miRNA profile in NIPT plasma samples can explain the finding of a low cell-free DNA (cfDNA) fetal fraction (cfDNAff) in euploid fetuses and non-obese women. Twelve women who underwent neoBona® NIPT with a normal [...] Read more.
The present pilot study investigates whether an abnormal miRNA profile in NIPT plasma samples can explain the finding of a low cell-free DNA (cfDNA) fetal fraction (cfDNAff) in euploid fetuses and non-obese women. Twelve women who underwent neoBona® NIPT with a normal fetal karyotype were studied. Six with a cfDNAff < 4% were matched with a control group with normal levels of cfDNAff > 4%. Samples were processed using the nanostring nCounter® platform with a panel of 800 miRNAs. Four of the maternal miRNAs, miR-579, miR-612, miR-3144 and miR-6721, had a significant abnormal expression in patients. A data filtering analysis showed that miR-579, miR-612, miR-3144 and miR-6721 targeted 169, 1, 48 and 136 placenta-specific genes, respectively. miR-579, miR-3144 and miR-6721 shared placenta-specific targeted genes involved in trophoblast invasion and migration pathways (IGF2R, PTCD2, SATB2, PLAC8). Moreover, the miRNA target genes encoded proteins localized in the placenta and involved in the pathogenesis of pre-eclampsia, including chorion-specific transcription factor GCMa, PRG2, Lin-28 Homolog B and IGFBP1. In conclusion, aberrant maternal miRNA expression in circulating plasma could be a source of dysregulating trophoblast invasion and migration and could represent a novel cause of a low cfDNAff in the sera of pregnant women at the time of NIPT analysis. Full article
(This article belongs to the Special Issue Maternal-Fetal Medicine)
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Article
AUditive Direct in Utero Observation (AUDIO): A Randomized Controlled Trial for a Prenatal Demonstration of Fetal Hearing
Diagnostics 2021, 11(11), 2026; https://doi.org/10.3390/diagnostics11112026 - 02 Nov 2021
Viewed by 275
Abstract
Introduction: The objective of this randomized controlled study was to demonstrate whether acoustic stimulation in utero is associated with fetal reactivity which is documentable by cardiotocography. Materials and methods: A monocentric randomized controlled trial was performed at a single university tertiary hospital between [...] Read more.
Introduction: The objective of this randomized controlled study was to demonstrate whether acoustic stimulation in utero is associated with fetal reactivity which is documentable by cardiotocography. Materials and methods: A monocentric randomized controlled trial was performed at a single university tertiary hospital between September 2016 and July 2017. This study was registered as a randomized clinical trial on clinicaltrail.gov (registration number NCT04622059). Unselected pregnancies at term of gestation were consecutively recruited for the purpose of this study. After 10 min of normal cardiotocography without accelerations (non-stress-test with a basal frequency between 110 and 150 beats/min, normal variability between 6 and 15 b/min, no accelerations, and no fetal movements), fetuses were randomized at a 1:1 ratio to either of the two groups. Fetuses in group A (n = 105) received acoustic stimulation after 10 min from the beginning of the CTG, whereas fetuses in group B received no stimulation (n = 105). The outcome variables investigated were the lapse of time between the beginning of the CTG and the occurrence of the first acceleration, and the lapse of time between the beginning of the CTG and the first fetal movement noticed. Results: The lapse of time between the beginning of the CTG and the occurrence of the first acceleration was significantly shorter in the group with acoustic stimulation compared to the other group (14.87 ± 5.01 vs. 21.90 ± 6.94 min, p-value < 0.001 log-rank test). Similarly, the lapse of time between the beginning of the CTG and the occurrence of the first fetal movement was significantly shorter in group A compared to group B (17.77 ± 7.62 vs. 23.28 ± 7.61 min, p-value < 0.001, log-rank test). Fetal cardiac acceleration and the occurrence of a fetal movement during the first 20 min of the CTG were more frequently recorded in group A compared to group B (respectively, 15% vs. 5% and 20% vs. 8%). Conclusion: This RCT showed an early fetal reaction following auditive stimulus, documentable by cardiotocography. Further research is needed to investigate a possible role of acoustic stimulation in utero for the prenatal diagnosis of congenital hypoacusis. Full article
(This article belongs to the Special Issue Maternal-Fetal Medicine)
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Article
Predictors of Newborn’s Weight for Height: A Machine Learning Study Using Nationwide Multicenter Ultrasound Data
Diagnostics 2021, 11(7), 1280; https://doi.org/10.3390/diagnostics11071280 - 16 Jul 2021
Viewed by 558
Abstract
There has been no machine learning study with a rich collection of clinical, sonographic markers to compare the performance measures for a variety of newborns’ weight-for-height indicators. This study compared the performance measures for a variety of newborns’ weight-for-height indicators based on machine [...] Read more.
There has been no machine learning study with a rich collection of clinical, sonographic markers to compare the performance measures for a variety of newborns’ weight-for-height indicators. This study compared the performance measures for a variety of newborns’ weight-for-height indicators based on machine learning, ultrasonographic data and maternal/delivery information. The source of data for this study was a multi-center retrospective study with 2949 mother–newborn pairs. The mean-squared-error-over-variance measures of five machine learning approaches were compared for newborn’s weight, newborn’s weight/height, newborn’s weight/height2 and newborn’s weight/hieght3. Random forest variable importance, the influence of a variable over average node impurity, was used to identify major predictors of these newborns’ weight-for-height indicators among ultrasonographic data and maternal/delivery information. Regarding ultrasonographic fetal biometry, newborn’s weight, newborn’s weight/height and newborn’s weight/height2 were better indicators with smaller mean-squared-error-over-variance measures than newborn’s weight/height3. Based on random forest variable importance, the top six predictors of newborn’s weight were the same as those of newborn’s weight/height and those of newborn’s weight/height2: gestational age at delivery time, the first estimated fetal weight and abdominal circumference in week 36 or later, maternal weight and body mass index at delivery time, and the first biparietal diameter in week 36 or later. These six predictors also ranked within the top seven for large-for-gestational-age and the top eight for small-for-gestational-age. In conclusion, newborn’s weight, newborn’s weight/height and newborn’s weight/height2 are more suitable for ultrasonographic fetal biometry with smaller mean-squared-error-over-variance measures than newborn’s weight/height3. Machine learning with ultrasonographic data would be an effective noninvasive approach for predicting newborn’s weight, weight/height and weight/height2. Full article
(This article belongs to the Special Issue Maternal-Fetal Medicine)
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Article
Influence of Cerebral Vasodilation on Blood Reelin Levels in Growth Restricted Fetuses
Diagnostics 2021, 11(6), 1036; https://doi.org/10.3390/diagnostics11061036 - 04 Jun 2021
Viewed by 597
Abstract
Fetal growth restriction (FGR) is one of the most important obstetric pathologies. It is frequently caused by placental insufficiency. Previous studies have shown a relationship between FGR and impaired new-born neurodevelopment, although the molecular mechanisms involved in this association have not yet been [...] Read more.
Fetal growth restriction (FGR) is one of the most important obstetric pathologies. It is frequently caused by placental insufficiency. Previous studies have shown a relationship between FGR and impaired new-born neurodevelopment, although the molecular mechanisms involved in this association have not yet been completely clarified. Reelin is an extracellular matrix glycoprotein involved in development of neocortex, hippocampus, cerebellum and spinal cord. Reelin has been demonstrated to play a key role in regulating perinatal neurodevelopment and to contribute to the emergence and development of various psychiatric pathologies, and its levels are highly influenced by pathological conditions of hypoxia. The purpose of this article is to study whether reelin levels in new-borns vary as a function of severity of fetal growth restriction by gestational age and sex. We sub-grouped fetuses in: normal weight group (Group 1, n = 17), FGR group with normal umbilical artery Doppler and cerebral redistribution at middle cerebral artery Doppler (Group 2, n = 9), and FGR with abnormal umbilical artery Doppler (Group 3, n = 8). Our results show a significant association of elevated Reelin levels in FGR fetuses with cerebral blood redistribution compared to the normal weight group and the FGR with abnormal umbilical artery group. Future research should focus on further expanding the knowledge of the relationship of reelin and its regulated products with neurodevelopment impairment in new-borns with FGR and should include larger and more homogeneous samples and the combined use of different in vivo techniques in neonates with impaired growth during their different adaptive phases. Full article
(This article belongs to the Special Issue Maternal-Fetal Medicine)
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Article
Prenatal Screening for Developmental Displacement of the Hip: The BUDDHA (Pre-Birth Ultrasound for Developmental Displacement of the Hip Assessment) Study
Diagnostics 2021, 11(5), 868; https://doi.org/10.3390/diagnostics11050868 - 12 May 2021
Viewed by 520
Abstract
Background: developmental dysplasia of the hip has an incidence of 3–5 out of 1000 children. Currently, only postnatal screening is available. Objective: to test the feasibility of a method based on Graf technique application at antenatal ultrasound in assessing the normal development of [...] Read more.
Background: developmental dysplasia of the hip has an incidence of 3–5 out of 1000 children. Currently, only postnatal screening is available. Objective: to test the feasibility of a method based on Graf technique application at antenatal ultrasound in assessing the normal development of the hip in unselected term fetuses. Methods: a prospective cohort study in a single university tertiary hospital from January 2017 to January 2020. Single uncomplicated term pregnancies (37–40 weeks) attending our center for routine ultrasound were consecutively recruited for the purpose of the study. A 3D volume acquisition was launched on the coxofemoral joint of the fetus by a single expert operator, and offline analysis was then performed in the multiplanar mode by two operators (blinded to each other analysis) in order to measure the alpha and beta angles according to our modified Graf technique. Intra- and inter-observer variations were calculated. Reference charts for normal values of both angles were produced. Postnatal ultrasound was then performed to measure the Graf angles in newborns, confirming a normal development of the hip. Results: in the study period, 433 uncomplicated term pregnancies underwent 3D ultrasound for the assessment of the fetal hip. One case was subsequently excluded because of confirmed postnatal diagnosis of developmental dysplasia of the hip. The measurement of our modified Graf angles was feasible at prenatal ultrasound with a good reproducibility. The inter-rater and intra-rater reliability of both angles was substantial. Reference charts for normal values of both angles were produced. Conclusions: the evaluation of the coxofemoral joint in fetuses at term of gestation has never been attempted before. The Graf technique application, currently employed at postnatal ultrasound, may also be adapted to prenatal ultrasound with a substantial reproducibility. However, there was no evidence of a linear relationship between prenatal and postnatal alpha angles and beta angles. Further research is needed to establish if developmental dysplasia of the hip could be diagnosed antenatally. Full article
(This article belongs to the Special Issue Maternal-Fetal Medicine)
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Article
Risk Minimization of Hemolytic Disease of the Fetus and Newborn Using Droplet Digital PCR Method for Accurate Fetal Genotype Assessment of RHD, KEL, and RHCE from Cell-Free Fetal DNA of Maternal Plasma
Diagnostics 2021, 11(5), 803; https://doi.org/10.3390/diagnostics11050803 - 28 Apr 2021
Viewed by 563
Abstract
The molecular pathology of hemolytic disease of the fetus and newborn (HDFN) is determined by different RHD, RHCE, and KEL genotypes and by blood group incompatibility between the mother and fetus that is caused by erythrocyte antigen presence/absence on the cell [...] Read more.
The molecular pathology of hemolytic disease of the fetus and newborn (HDFN) is determined by different RHD, RHCE, and KEL genotypes and by blood group incompatibility between the mother and fetus that is caused by erythrocyte antigen presence/absence on the cell surface. In the Czech Republic, clinically significant antierythrocyte alloantibodies include anti-D, anti-K, anti C/c, and anti-E. Deletion of the RHD gene and then three single nucleotide polymorphisms in the RHCE and KEL genes (rs676785, rs609320, and rs8176058) are the most common. The aim of this study is to develop effective and precise monitoring of fetal genotypes from maternal plasma of these polymorphisms using droplet digital (dd)PCR. Fifty-three plasma DNA samples (from 10 to 18 weeks of gestation) were analyzed (10 RHD, 33 RHCE, and 10 KEL). The ddPCR methodology was validated on the basis of the already elaborated and established method of minisequencing and real-time PCR and with newborn phenotype confirmation. The results of ddPCR were in 100% agreement with minisequencing and real-time PCR and also with newborn phenotype. ddPCR can fully replace the reliable but more time-consuming method of minisequencing and real-time PCR RHD examination. Accurate and rapid noninvasive fetal genotyping minimizes the possibility of HDFN developing. Full article
(This article belongs to the Special Issue Maternal-Fetal Medicine)
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Review

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Review
A Systematic Review of Methodology Used in Studies Aimed at Creating Charts of Fetal Brain Structures
Diagnostics 2021, 11(6), 916; https://doi.org/10.3390/diagnostics11060916 - 21 May 2021
Viewed by 403
Abstract
Ultrasound-based assessment of the fetal nervous system is routinely recommended at the time of the mid-trimester anatomy scan or at different gestations based on clinical indications. This review evaluates the methodological quality of studies aimed at creating charts for fetal brain structures obtained [...] Read more.
Ultrasound-based assessment of the fetal nervous system is routinely recommended at the time of the mid-trimester anatomy scan or at different gestations based on clinical indications. This review evaluates the methodological quality of studies aimed at creating charts for fetal brain structures obtained by ultrasound, as poor methodology could explain substantial variability in percentiles reported. Electronic databases (MEDLINE, EMBASE, Cochrane Library, and Web of Science) were searched from January 1970 to January 2021 to select studies on singleton fetuses, where the main aim was to construct charts on one or more clinically relevant structures obtained in the axial plane: parieto-occipital fissure, Sylvian fissure, anterior ventricle, posterior ventricle, transcerebellar diameter, and cisterna magna. Studies were scored against 29 predefined methodological quality criteria to identify the risk of bias. In total, 42 studies met the inclusion criteria, providing data for 45,626 fetuses. Substantial heterogeneity was identified in the methodological quality of included studies, and this may explain the high variability in centiles reported. In 80% of the studies, a high risk of bias was found in more than 50% of the domains scored. In conclusion, charts to be used in clinical practice and research should have an optimal study design in order to minimise the risk of bias and to allow comparison between different studies. We propose to use charts from studies with the highest methodological quality. Full article
(This article belongs to the Special Issue Maternal-Fetal Medicine)
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Other

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Systematic Review
Microbial Translocation and Perinatal Asphyxia/Hypoxia: A Systematic Review
Diagnostics 2022, 12(1), 214; https://doi.org/10.3390/diagnostics12010214 - 16 Jan 2022
Viewed by 123
Abstract
The microbiome is vital for the proper function of the gastrointestinal tract (GIT) and the maintenance of overall wellbeing. Gut ischemia may lead to disruption of the intestinal mucosal barrier, resulting in bacterial translocation. In this systematic review, according to PRISMA (Preferred Reporting [...] Read more.
The microbiome is vital for the proper function of the gastrointestinal tract (GIT) and the maintenance of overall wellbeing. Gut ischemia may lead to disruption of the intestinal mucosal barrier, resulting in bacterial translocation. In this systematic review, according to PRISMA (Preferred Reporting Items for Systematic Review and Meta-Analysis) guidelines, we constructed a search query using the PICOT (Patient, Intervention, Comparison, Outcome, Time) framework. Eligible studies reported in PubMed, up to April 2021 were selected, from which, 57 publications’ data were included. According to these, escape of intraluminal potentially harmful factors into the systemic circulation and their transmission to distant organs and tissues, in utero, at birth, or immediately after, can be caused by reduced blood oxygenation. Various factors are involved in this situation. The GIT is a target organ, with high sensitivity to ischemia–hypoxia, and even short periods of ischemia may cause significant local tissue damage. Fetal hypoxia and perinatal asphyxia reduce bowel motility, especially in preterm neonates. Despite the fact that microbiome arouse the interest of scientists in recent decades, the pathophysiologic patterns which mediate in perinatal hypoxia/asphyxia conditions and gut function have not yet been well understood. Full article
(This article belongs to the Special Issue Maternal-Fetal Medicine)
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Case Report
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder
Diagnostics 2021, 11(10), 1904; https://doi.org/10.3390/diagnostics11101904 - 14 Oct 2021
Viewed by 324
Abstract
Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have consequences for fetal health. It is [...] Read more.
Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have consequences for fetal health. It is therefore advisable to implement rapid diagnostic strategies to provide information for the management of pregnancy in these conditions. We report the case of a healthy woman with a twin pregnancy from homologous in vitro fertilization (IVF), who in the third trimester presented jaundice and malaise. Biochemical investigations and liver hyperechogenicity raised the suspicion of acute fatty liver disease of pregnancy (AFLP). Non-invasive prenatal whole-exome sequencing (WES) in the trio identified the Phe305Ile heterozygous variant in the ATP8B1 gene. Considering the twin pregnancy, the percentage of the variant versus the wild allele was of 31%, suggesting heterozygosity present in the mother alone. This analysis showed that the mother was affected by benign recurrent intrahepatic cholestasis of pregnancy (ICP1: # 147480) and indicated the opportunity to anticipate childbirth to avoid worsening of the mother’s health. WES after the birth of the twins confirmed the molecular data. Full article
(This article belongs to the Special Issue Maternal-Fetal Medicine)
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Case Report
Dural Sinus Arteriovenous Malformation in the Fetus. Case Report and Discussion of the Literature
Diagnostics 2021, 11(9), 1651; https://doi.org/10.3390/diagnostics11091651 - 09 Sep 2021
Viewed by 383
Abstract
Sonographic findings of cerebral arteriovenous malformations in the fetus are uncommon and usually regard aneurysm of the Galen vein. Outcome of arteriovenous malformations is usually severe. We report a case of a fetus at 21 weeks’ gestation with a rarer arteriovenous malformation, referred [...] Read more.
Sonographic findings of cerebral arteriovenous malformations in the fetus are uncommon and usually regard aneurysm of the Galen vein. Outcome of arteriovenous malformations is usually severe. We report a case of a fetus at 21 weeks’ gestation with a rarer arteriovenous malformation, referred to us for echocardiography on account of a suspicious cardiomegaly at obstetrical scan. Upon examination, we found cardiomegaly, together with an associated moderate tricuspid regurgitation, however, there were no clear features of tricuspid dysplasia. Considering an unusually dilated superior vena cava, we found via color Doppler imaging a systodiastolic flow at Color Doppler progressing. Subsequent MRI of the central nervous system determined the localization in the sinus dura mater. Due to an already evident hemodynamic impact, the parents opted for the termination of the pregnancy. Autopsy confirmed a voluminous arteriovenous malformation of the transverse sinus of the dura mater, severe cardiomegaly, mainly of the ventricles, and hypoplasia of the lungs. Full article
(This article belongs to the Special Issue Maternal-Fetal Medicine)
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