Fetal Diagnosis and Therapy

Skeletal dysplasias (SDs) are a heterogeneous group of heritable disorders that affect development of bone and cartilage. Because each SD is individually rare and because of the heterogeneity within and among disorders, prenatal diagnosis of a specific SD remains challenging. Molecular genetic diagnosis involves invasive testing, which some patients are not amenable to. Further, genetic analysis is time consuming, and results may not become available in time to make pregnancy management decisions. Low-dose fetal CT can aid in the prenatal evaluation of SDs...

INTRODUCTION: Both Tissue Doppler Imaging (TDI) and Pulsed Wave Doppler (PWD) Myocardial Performance Indices (MPI) have been proposed as tools for functional fetal cardiology. We wished to determine if there was any correlation between TDI MPI and PWD MPI. METHODS: A cohort of uncomplicated women with morphologically normal singleton fetuses between 22 and 39 weeks gestation were recruited. A single sonologist acquired Doppler waveforms for evaluation of both left and right TDI-MPI and PWD-MPI...

Introduction Higher-order fetal gestation is associated with adverse pregnancy outcomes, and monochorionic (MC) pregnancies have unique complications. Multifetal pregnancy reduction (MPR) by radiofrequency ablation may be used to optimize the outcomes of a single fetus. The purpose of this study was to determine whether pregnancy outcomes differ for elective reduction compared to reduction for medically-complicated MC multifetal pregnancies. Methods This was a retrospective cohort of patients with MC twins and higher-order multiples who underwent MPR via radiofrequency ablation at a single institution between 2008-2021...

INTRODUCTION/OBJECTIVE: To assess the performance of antenatal ultrasound markers in detecting neonatal coarctation of the aorta (CoA). METHODS: We performed a retrospective study including fetuses with suspected CoA and no other cardiac abnormalities. Data obtained from antenatal ultrasounds included subjective assessment of ventricular and arterial asymmetry, appearance of aortic arch, presence of a persistent left superior vena cava (PLSVC), and objective Z-score measurements of the mitral (MV), tricuspid (TV), aortic (AV) and pulmonary (PV) valves...

INTRODUCTION: we aim to correlate pre-and postnatal data regarding the cleft type and surgical prognostic factors associated to orofacial clefts. METHODS: retrospective study concerning all cases of orofacial cleft evaluated prenatally (US+/-MRI) between 2015 and 2020 with available postnatal outcome. We compared prenatal imaging (cleft type and surgical prognostic factors) with postnatal findings. RESULTS: 48 fetuses were included. Median gestational age at first US/MRI examination: 29WG+2D and 31WG+6D respectively...

INTRODUCTION: The objective of this retrospective study was to compare the predictive performance of the soluble fms-like tyrosine kinase 1 (sFlt-1) / placental growth factor (PlGF)-ratio alone or in a multi-marker regression model for preeclampsia-related maternal and/or fetal adverse outcomes in women >34 weeks of gestation. METHODS: We analyzed the data collected from 655 women with suspected preeclampsia. Adverse outcomes were predicted by multivariable and univariable logistic regression models...

Early identification of fetal sex is possible due to both improved ultrasound resolution and the incorporation of cell-free DNA (cfDNA) testing into routine prenatal screening services. Whilst ultrasound assessment of the external genitalia generally suffices, there are instances where identification of the internal genitalia becomes vital to allow accurate prenatal diagnosis and comprehensive counseling. This manuscript outlines the methodology and clinical utility of assessing fetal genitalia beyond conventional sonography, from the second trimester onwards and is the first to describe direct visualization of the fetal vagina...

INTRODUCTION: Primary microcephaly (MCPH) is not an uncommon disorder with multiple etiologies. There is a growing number of MCPH-related genes discovered due to the extensive application of whole-exome sequencing (WES) in clinical and research settings. Biallelic mutations in the SASS6 gene cause an extremely rare MCPH, type 14. To date, only two families with SASS6 gene-related microcephaly have been reported. CASE DESCRIPTION: We report a case of recurrent congenital microcephaly in a Chinese family...

INTRODUCTION: Identification of intertwin anastomosis may be challenging during fetoscopy in cases with complete anterior placenta. The aim of this study was to describe the technique, feasibility and outcomes of flexible video fetoscopy for laser coagulation in monochorionic (MC) twin pregnancies with twin-to-twin transfusion syndrome (TTTS) presenting with inaccessible anterior placenta. METHODS: From April 2021 to March 2022, a prospective cohort of consecutive MC twin pregnancies complicated with TTTS, presenting with anterior placenta after 20 weeks was recruited...

Introduction We aimed to identify maternal and fetal complications and investigate post-natal and long-term outcomes of fetal hydrothorax (FHT) treated with pleuro-amniotic shunting (shunt). Methods Single-center retrospective observational cohort of shunt cases performed from 2000 to 2021. Risk factors for maternal complications, fetal demise, neonatal death (NND), and post-natal outcomes were identified. Results Out of 88 cases, 70 (79.5%) were complicated by hydrops, with an average gestational age (GA) at diagnosis of 27 weeks (range 16-34)...

Introduction Our objective was to evaluate the outcome of fetuses with first and second-trimester fetal cytomegalovirus infection (CMVi) according to prenatal imaging patterns, especially fetuses presenting with mild imaging features (MF), being currently of uncertain prognosis. Material and Methods Among a retrospective study on 415 suspected CMVi cases, 59 cases were confirmed CMVi. Among prenatal imaging features, microcephaly, cortical disorder and cerebellar hypoplasia as well as severe IUGR and fetal hydrops were considered as severe imaging features (SF)...

INTRODUCTION: Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare disorder of renal tubular development. ARRTD is a severe condition with high risk of fetal demise and early neonatal death with only limited case reports of survival over two years [1]. Prenatal diagnosis of ARRTD is challenging and diagnosis has only previously been confirmed after postnatal or post-mortem investigation. CASE: To the best of our knowledge, we describe the first reported case of utilising targeted genetic testing on the chorionic villous sample (CVS) to identify a homozygous variant in the angiotensinogen (AGT) gene...

INTRODUCTION: The benefits of fetal surgery are impaired by the high incidence of iatrogenic preterm prelabor rupture of the fetal membranes (iPPROM), for which chorioamniotic separation has been suggested as a potential initiator. Despite the urgent need to prevent iPPROM by sealing the fetoscopic puncture site after intervention, no approach has been clinically translated. METHODS: A mussel-inspired biomimetic glue was tested in an ovine fetal membrane (FM) defect model...

OBJECTIVE: The current retrospective case-control study evaluates the diagnostic value of screening for a fetal cleft palate by using the ultrasound-based observation of the "superimposed-line" sign appearing at the junction of the vomer and maxilla in the first trimester of pregnancy. METHODS: Retrospective analyses were performed of ultrasonographic images of nuchal translucency (NT) obtained during the first trimester of pregnancy (11-13+6 weeks) from 45 fetuses with a cleft palate later confirmed following parturition or induced labor (cases) and 4500 normal fetuses confirmed after parturition (controls)...

INTRODUCTION: Hepatopulmonary fusion (HPF) is a rare anomaly specifically associated with right-sided congenital diaphragmatic hernia (CDH). Fewer than 50 cases of HPF have been reported, most at the time of surgery or postmortem with an associated high morbidity and mortality rate. Prenatal diagnosis and optimal management of these rare cases has not been established. CASE PRESENTATION: We present a case of HPF diagnosed prenatally by fetal ultrasound and magnetic resonance imaging allowing postnatal and intraoperative planning leading to successful HPF separation and repair of the CDH...

INTRODUCTION: Relevance of fetal brain MRI in cases of cleft lip and/or palate (CL/P) is still discussed to date. The aim of our study was to review the contribution of fetal brain MRI for detecting cerebral anomalies in cases of CL/P comparing antenatal data with neonatal outcomes. METHODS: A retrospective multicenter study was conducted from January 2010 to October 2020 in two multidisciplinary prenatal diagnosis centers (MDPDCs) among women with a fetal US diagnosis of CL/P...

INTRODUCTION: To report the prognostic value of Cytomegalovirus (CMV) viral load in the amniotic fluid (AF) in predicting the outcome of infected pregnancies. METHODS: Multicenter retrospective study involving 11 Italian referral centers from 2012 to 2021. Inclusion criteria were fetuses with confirmed congenital CMV infection. The primary outcome was the prognostic value accuracy of CMV qPCR in AF in predicting the risk of additional anomalies detected either at follow-up ultrasound or fetal MRI...

INTRODUCTION: To determine if outcomes of fetoscopic laser photocoagulation in isolated twin-twin transfusion syndrome (TTTS) differ from TTTS with concomitant selective fetal growth restriction (sFGR). METHODS: This is a retrospective cohort study of all cases of TTTS treated at the CHU Sainte-Justine between February 2006 and January 2020. Data was collected from maternal, obstetrical and neonatal chart review. RESULTS: A total of 149 patients were included in our study...

INTRODUCTION: To evaluate the feasibility of identifying the fetal cardiac and thoracic vascular structures with non-gated dynamic balanced steady-state free precession (SSFP) MRI sequences. METHODS: We retrospectively assessed the visibility of cardiovascular anatomy in 60 fetuses without suspicion of congenital heart defect. Non-gated dynamic balanced SSFP sequences were acquired in three anatomic planes of the fetal thorax. The images were analyzed following a segmental approach in consensus reading by an experienced pediatric cardiologist and radiologist...

Most cases of bronchopulmonary sequestration ( BPS) regress. Prenatal intervention is needed in cases of fetal hydrothorax or hydrops. Laser is commonly used to ablate the feeding artery Case presentation: Radiofrequency ablation ( RFA) was used to ablate the feeding artery from descending aorta in a case of extralobar BPS at 29 weeks gestation. The fetus had significant pleural effusion causing mediastinal shift and collapse of lung. The effusion and tumor started decreasing from day 3 after procedure. By the time patient delivered at 36 weeks gestation, the lesion had almost resolved Conclusion : with proper technique , RFA can be safely used to ablate feeding artery in BPS...