Journal of Clinical Medicine

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9 pages, 459 KiB

Open AccessArticle

Circulating Cell-Free Mitochondrial DNA as a Novel Biomarker for Intra-Amniotic Infection in Obstetrics: A Pilot Trial

by Sebastian Zeiner, Peter Wohlrab, Ingo Rosicky, Regina Patricia Schukro, Klaus Ulrich Klein, Johann Wojta, Walter Speidl, Herbert Kiss and Dana Anaïs Muin

J. Clin. Med. 2024, 13(16), 4616; https://doi.org/10.3390/jcm13164616 - 7 Aug 2024

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Abstract

Background/Objectives: Intra-amniotic infection (IAI) is a rare but serious condition with potential complications such as preterm labor and intrauterine fetal death. Diagnosing IAI is challenging due to varied clinical signs. Oxidative stress and mitochondrial dysfunction have been hypothesized to evolve around IAI. [...] Read more.

Background/Objectives: Intra-amniotic infection (IAI) is a rare but serious condition with potential complications such as preterm labor and intrauterine fetal death. Diagnosing IAI is challenging due to varied clinical signs. Oxidative stress and mitochondrial dysfunction have been hypothesized to evolve around IAI. This study focused on measuring circulating mtDNA levels, a proposed biomarker for mitochondrial dysfunction, in maternal serum and placenta of women with confirmed IAI and healthy controls. Methods: 12 women with confirmed IAI (IAI group) were enrolled following premature preterm rupture of the membranes (PPROM) and compared to 21 healthy women (control group). Maternal blood was obtained two weeks pre-partum and peripartum; furthermore, postpartum placental blood was taken. In the IAI group, maternal blood was taken once weekly until delivery as well as peripartum, as was placental blood. Circulating cell-free mtDNA was quantified by real-time quantitative PCR. Results: Upon admission, in the IAI group, mean plasma mtDNA levels were 735.8 fg/μL compared to 134.0 fg/μL in the control group (p < 0.05). After delivery, in the IAI group, mean mtDNA levels in the placenta were 3010 fg/μL versus 652.4 fg/μL (p < 0.05). Conclusions: Circulating cell-free mtDNA could serve as a valuable biomarker for IAI prediction and diagnosis. Future research should establish reference values for sensitivity in predicting IAI. Full article

(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)

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11 pages, 427 KiB

Open AccessArticle

Prenatal Manifestation of Transient Abnormal Myelopoiesis: Case Report and Review of the Literature

by Izabela Walasik, Ewelina Litwińska-Korcz, Monika Szpotańska, Paweł Stanirowski, Aleksandra Księżopolska, Artur Ludwin and Magdalena Litwińska

J. Clin. Med. 2024, 13(16), 4584; https://doi.org/10.3390/jcm13164584 - 6 Aug 2024

Cited by 1 | Viewed by 1613

Abstract

Background: Congenital malignancies are unusual fetal conditions, and therefore, the data on their prenatal manifestation are limited. Transient abnormal myelopoiesis (TAM) is a hematologic disorder characteristic for babies with trisomy 21 and based on the transient appearance of blast cells in peripheral [...] Read more.

Background: Congenital malignancies are unusual fetal conditions, and therefore, the data on their prenatal manifestation are limited. Transient abnormal myelopoiesis (TAM) is a hematologic disorder characteristic for babies with trisomy 21 and based on the transient appearance of blast cells in peripheral blood. Methods: This paper presents prenatal manifestation of congenital TAM in a newborn with normal karyotype and reviews the literature on prenatal manifestation of this disorder. Results: A pregnant woman in her third pregnancy referred herself to the hospital for reduced fetal movements at 30 weeks of gestation. Admission’s ultrasound scan showed an increased middle cerebral artery peak systolic velocity together with hepatomegaly. The patient was admitted to the labor ward for cardiotocography monitoring which showed acute fetal distress with repeated unprovoked decelerations. An emergency cesarean section was conducted and a phenotypically normal female newborn with low Apgar score was delivered. Further examination of the peripheral blood revealed anemia and leukocytosis with high blast proportion. A bone marrow aspirate revealed 70.2% of blasts in a sample with an abnormal karyotype of 47 XX+21. Cytogenetic analysis of the blasts with later microarray comparative genomic hybridization confirmed the presence of GATA1 mutation. However, the buccal smear showed a normal karyotype in the infant. The disease was classified as TAM. Conclusions: Our study demonstrates a rare case of prenatal manifestation of TAM in a neonate with a normal karyotype. Obstetricians should pay attention to symptoms like high MCA PSV and hepatosplenomegaly as possible causes of fetal hematological disorders and differentiate it with infection or isoimmunization. Full article

(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)

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10 pages, 3152 KiB

Open AccessArticle

The ‘Radiant Effect’: Recent Sonographic Image-Enhancing Technique and Its Impact on Nuchal Translucency Measurements

by Arne Bergsch, Jan Degenhardt, Rüdiger Stressig, Heiko Dudwiesus, Oliver Graupner and Jochen Ritgen

J. Clin. Med. 2024, 13(12), 3625; https://doi.org/10.3390/jcm13123625 - 20 Jun 2024

Cited by 1 | Viewed by 984

Abstract

Background: This study assesses the effects of the ‘Radiant’ image enhancement technique on fetal nuchal translucency (NT) measurements during first-trimester sonographic exams. Methods: A retrospective analysis of 263 ultrasound images of first-trimester midsagittal sections was conducted. NT measurements were obtained using [...] Read more.

Background: This study assesses the effects of the ‘Radiant’ image enhancement technique on fetal nuchal translucency (NT) measurements during first-trimester sonographic exams. Methods: A retrospective analysis of 263 ultrasound images of first-trimester midsagittal sections was conducted. NT measurements were obtained using a semi-automatic tool. Statistical methods were applied to compare NT measurements with and without ‘Radiant’ enhancement. An in vitro setup with predefined line distances provided additional data. Results: Incremental increases in NT measurements were observed with varying levels of ‘Radiant’ application: an average increase of 0.19 mm with ‘Radiant min’, 0.24 mm with ‘Radiant mid’, and 0.30 mm with ‘Radiant max.’ The in vitro results supported these findings, showing consistent effects on line thickness and measurement accuracy, with the smallest mean deviation occurring at the ‘Radiant mid’ setting. Conclusions: ‘Radiant’ image enhancement leads to significant increases in NT measurements. To avoid systematic biases in clinical assessments, it is advisable to disable ‘Radiant’ during NT measurement procedures. Further studies are necessary to corroborate these findings and to consider updates to the NT reference tables based on this technology. Full article

(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)

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Review

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13 pages, 815 KiB

Open AccessReview

Fetoscopic Myelomeningocele (MMC) Repair: Evolution of the Technique and a Call for Standardization

by Stephanie M. Cruz, Sophia Hameedi, Lourenco Sbragia, Oluseyi Ogunleye, Karen Diefenbach, Albert M. Isaacs, Adolfo Etchegaray and Oluyinka O. Olutoye

J. Clin. Med. 2025, 14(5), 1402; https://doi.org/10.3390/jcm14051402 - 20 Feb 2025

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Abstract

Fetal surgery has made significant strides over the past 40 years, facilitated by advances in technology and imaging modalities enabling the diagnosis and treatment of congenital anomalies in utero. The Management of Myelomeningocele Study (MOMS), a multicenter randomized controlled trial, established open fetal [...] Read more.

Fetal surgery has made significant strides over the past 40 years, facilitated by advances in technology and imaging modalities enabling the diagnosis and treatment of congenital anomalies in utero. The Management of Myelomeningocele Study (MOMS), a multicenter randomized controlled trial, established open fetal myelomeningocele (MMC) repair as the gold standard for improving neurological outcomes compared to postnatal repair. However, this approach is associated with increased maternal complications and preterm birth due to hysterotomy, prompting the exploration of minimally invasive alternatives. Due to the lack of an existing randomized control trial with fetoscopic MMC repair and variations in technique (percutaneous versus laparotomy/transuterine access, different trocar configurations, closure methods, and patch applications) among different fetal centers, more studies are needed to optimize this approach as an alternative to the standard of care. This paper proposes to assess the basics tenets of open fetal MMC repair and to establish guiding principles for a fetoscopic approach that could prove to be equivalent or superior to open fetal MMC repair in maternal and fetal outcomes and lead to clinical implementation. Full article

(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)

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15 pages, 1109 KiB

Open AccessReview

Counselling in Fetal Medicine: Uncomplicated Twin Pregnancies

by Filomena Giulia Sileo, Sara Sorrenti, Antonella Giancotti, Daniele Di Mascio, Valentina D’Ambrosio, Fabrizio Zullo, Elena D’Alberti, Martina Derme, Ilenia Mappa, Emma Bertucci, Antonio La Marca, Francesco D’Antonio, Giuseppe Rizzo and Asma Khalil

J. Clin. Med. 2024, 13(23), 7355; https://doi.org/10.3390/jcm13237355 - 3 Dec 2024

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Abstract

Twin pregnancies account for 3% of all pregnancies and they are burdened by higher morbidity and mortality compared to singletons. The role of ultrasound in the screening, diagnosis and management of possible complications of twin pregnancies has been widely investigated in the current [...] Read more.

Twin pregnancies account for 3% of all pregnancies and they are burdened by higher morbidity and mortality compared to singletons. The role of ultrasound in the screening, diagnosis and management of possible complications of twin pregnancies has been widely investigated in the current literature. However, despite the progress that have been made in the last decades regarding treatment and evidence-based management of complications, twin pregnancies remain at higher risk of adverse outcomes, requiring therefore dedicated surveillance. Thorough counselling regarding the risks and prenatal care should be offered to all future parents of twin pregnancies. This review aims to summarize the current evidence regarding the management of uncomplicated dichorionic and monochorionic pregnancies. Full article

(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)

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16 pages, 299 KiB

Open AccessReview

Counselling in Fetal Medicine: Complications of Monochorionic Diamniotic Twin Pregnancies

by Sara Sorrenti, Asma Khalil, Francesco D’Antonio, Valentina D’Ambrosio, Fabrizio Zullo, Elena D’Alberti, Martina Derme, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo and Antonella Giancotti

J. Clin. Med. 2024, 13(23), 7295; https://doi.org/10.3390/jcm13237295 - 30 Nov 2024

Viewed by 1198

Abstract

Twin pregnancies are at increased risk of morbidity and mortality compared to singletons. Among all twins, monochorionic pregnancies are at higher risk of specific and non-specific complications compared to dichorionic pregnancies. Therefore, it is of great importance to properly counsel future parents with [...] Read more.

Twin pregnancies are at increased risk of morbidity and mortality compared to singletons. Among all twins, monochorionic pregnancies are at higher risk of specific and non-specific complications compared to dichorionic pregnancies. Therefore, it is of great importance to properly counsel future parents with monochorionic pregnancies regarding the risks of adverse outcomes and the modalities of monitoring and intervention of the potential complications. Conditions related to the monochorionicity include twin-to-twin transfusion syndrome (TTTS), twin reversed arterial perfusion sequence (TRAP), and twin anemia polycythemia syndrome (TAPS); other complications include selective fetal growth restriction (sFGR) and congenital anomalies. This review aims to summarize the information available in the current literature regarding the complications in monochorionic diamniotic twin pregnancies, including outcomes and guideline recommendations about the clinical surveillance, management, and timing of interventions of these conditions that should be included in counselling in routine clinical practice. Full article

(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)

12 pages, 1338 KiB

Open AccessReview

Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review

by Chayada Tangshewinsirikul, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Patama Promsonthi, Poomiporn Katanyuwong, Sanpon Diawtipsukon, Nareenun Chansriniyom and Theera Tongsong

J. Clin. Med. 2024, 13(19), 5735; https://doi.org/10.3390/jcm13195735 - 26 Sep 2024

Cited by 1 | Viewed by 2382

Abstract

Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomalies, and intellectual disability. Prenatal diagnosis of [...] Read more.

Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomalies, and intellectual disability. Prenatal diagnosis of Noonan syndrome is rare because there are no pathognomonic sonographic signs. Studies on the prenatal sonographic features of Noonan syndrome have been reported in very limited numbers. This case series of severe fetal Noonan syndrome, together with a literature review, was conducted to establish prenatal sonographic features highly suggestive of Noonan syndrome to facilitate early detection by clinicians. This study reveals that Noonan syndrome has a relatively specific pattern, which facilitates prenatal molecular genetic diagnosis. Increased nuchal translucency (NT) in the late first trimester and fluid collection in the early second trimester could be warning signs for follow-up, prompting further investigation to detect late-onset features and leading to molecular genetic confirmation. Most structural abnormalities appear in the second trimester, with progressive changes noted throughout gestation. This review better characterizes the sonographic features of fetal Noonan syndrome based on a larger sample size, illustrating a wider spectrum of prenatal phenotypes, including lymphatic drainage disorders, cardiac abnormalities, polyhydramnios, and absent ductus venosus. Full article

(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)

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20 pages, 1127 KiB

Open AccessReview

Ophthalmic Complications, Diagnosis, and Treatment of Congenital Human Cytomegalovirus Infection

by Monika Modrzejewska, Piotr Połubiński and Oliwia Zdanowska

J. Clin. Med. 2024, 13(12), 3379; https://doi.org/10.3390/jcm13123379 - 8 Jun 2024

Viewed by 2193

Abstract

Background: Human cytomegalovirus (hCMV) is the most common etiological agent of congenital infections seen in newborns. Among the most commonly observed complications in children with congenital human cytomegalovirus infection are those affecting the visual system. Ocular complications of congenital CMV (cCMV) are a [...] Read more.

Background: Human cytomegalovirus (hCMV) is the most common etiological agent of congenital infections seen in newborns. Among the most commonly observed complications in children with congenital human cytomegalovirus infection are those affecting the visual system. Ocular complications of congenital CMV (cCMV) are a topic rarely addressed in the literature, which prompted the authors to update the available knowledge with the latest data. Methodology: English-language literature published between April 2000 and November 2023 (PubMed, NIH, Google Scholar) was analyzed for ocular complications of cCMV. The data obtained were categorized according to the ocular area involved and the incidence. A compilation of criteria for the symptomatic form of cCMV was also created. Results: The cCMV complications described in the literature affect all parts of the visual system: the anterior segment, the posterior segment, the posterior visual pathways, and the visual cortex. The most commonly described ocular complication of cCMV is choroidal and retinal scarring. Conclusions: Ophthalmic complications of cCMV can cause severe visual disturbances. Ophthalmic diagnosis in newborns should include hCMV PCR testing, which has the highest sensitivity and specificity. In the symptomatic form of cCMV, treatment should be instituted according to recommendations. A consensus should be established for screening of primary hCMV infection in pregnant women, the way in which to define the symptomatic form of cCMV, and the appropriateness and standards of treatment for primary hCMV infection in pregnant women. Full article

(This article belongs to the Special Issue Advances in Prenatal Diagnosis and Maternal Fetal Medicine)

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