Concerns with performance of screening for aneuploidy by cell-free DNA analysis of maternal blood in twin pregnancy

SCOPUS: le.jFLWINinfo:eu-repo/semantics/publishe

Early evaluation of embryonic anatomy: factors influencing ultrasonographic visualisation between 8 and 10+6 weeks’ gestation

ObjectivesTo prospectively assess the contribution of different factors in the visualisation of embryonic anatomy between 8 and 10+6 week's gestation (WG) in a low‐risk population.MethodsThe study protocol on sonoembryology was approved by the local ethic committee. In our tertiary center, all pregnant women below 11 WG underwent a transvaginal ultrasound for an early anatomical assessment of embryonic anatomy. A single fetal medicine specialist performed all the examinations, previous a written informed consent by the patient. Multivariable logistic regression analysis was used in order to investigate the effect on the ability to visualise separately: brain, eyes, superior lip, four‐chamber view, outflow tracts, arms and legs, stomach, kidneys, spine and bladder. The following parameters were tested as continuous numerical variables: fetal crown–rump length (CRL (mm), maternal body mass index (BMI (kg/m2), distance between the transducer and the crux of the heart (mm). The parity and the position of the placenta (between or not between the ultrasound beam and the embryo) were tested as categorical variables.ResultsFrom October 2011 to December 2013; 1318 consecutives patients with a live embryo pregnancy between 16 mm and 44 mm of CRL were enrolled in this prospective study. Regression analysis showed that the ability to visualise heart anatomy, brain, arms and legs depends on the CRL and on the distance between the probe and the embryo. The ability to visualize the face, the stomach, the kidneys and the spine depends on the CRL, the distance between the probe and the embryon, the parity and the position of the placenta. According to GA, percentage of visualisation for different anatomical parts was also evaluated.ConclusionsSonographic assessment of human embryo anatomy can be performed as early as 8 WG. CRL and distance between the probe and embryo are the most important factor influencing visualisation of embryon anatomy.info:eu-repo/semantics/publishe

A case of severe foetal anaemia due to anti-Kell that could not be detected by the weekly assessment of middle cerebral artery peak systolic velocity

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Ultrasonographic factors predicting a poor outcome in pregnancies between 8 and 10 + 6 week's gestation

ObjectivesThe aim of this prospective study is to assess the value of ultrasonographic findings in predicting unfavourable outcome in pregnancies between 8 and 10 + 6 weeks' gestation (WG).MethodsThis is a prospective study on live embryos between 8 and 10 + 6 WG performed in a tertiary center by a single fetal medicine specialist. The local research ethic committee approved the study protocol and patients were enrolled after an informed written consent. Embryonic crown–rump length (CRL), heart rate (HR) and yolk sac diameter (YSD) were measured and new ultrasonographic findings (embryonic skin edema and hydrothorax) were evaluated transvaginally. Fetal outcome was evaluated at 22 WG. Miscarriages, chromosomal abnormalities and fetal malformations were recorded and considered as unfavourable outcome. Logistic regression analysis was used in order to evaluate if the continuous variables CRL, HR and YSD and the categorical variables skin edema and hydrothorax have a significant effect on unfavourable outcome.ResultsFrom October 2011 and December 2013; 1318 consecutives patients with a live embryo pregnancy between 16mm and 44mm of CRL were enrolled in this prospective study. Final outcome was available in 1244 as in 74 cases patients were lost to the follow‐up. In 1182 cases, second trimester ultrasound confirmed a normal development. Follow‐up revealed a miscarriage in 29 cases, a chromosomal abnormality in 6 cases and a fetal malformation in 27 cases. Multivariate logistic regression analysis showed that in the prediction of unfavourable outcome the risk was higher when skin edema (odds ratio: 13.457) and hydrothorax (odds ratio:19.965) were found. However, CRL, HR and YSD didn't have a significant effect on the risk of unfavorable outcome.ConclusionsEarly ultrasonographic evaluation between 8 and 10 + 6 WG allows predicting the risk of poor outcome. Skin edema and bilateral hydrothorax are high predictors of miscarriage, chromosomal abnormalities and fetal malformations.info:eu-repo/semantics/publishe

First-Trimester Combined Multimarker Prospective Study for the Detection of Pregnancies at a High Risk of Developing Preeclampsia Using the Fetal Medicine Foundation-Algorithm

Objective: To evaluate the Fetal Medicine Foundation (FMF) algorithm prospectively at 11-13 weeks' gestation in the prediction of preeclampsia (PE). Methods: Single-center prospective screening study for PE of singleton pregnancies at 11-13 weeks. The FMF algorithm takes into account maternal characteristics and biomarkers. Detection rate (DR) for a 10% false-positive rate (FPR) for delivery with preterm and term PE was estimated. Results: Between January 2011 and December 2013, of 3,239 patients available for final analysis, 36 (1.1%) subsequently developed preterm and 44 (1.4%) term PE. In combined screening by maternal factors, mean arterial pressure, uterine artery pulsatility index, and serum placental growth factor, the DR was 80.6% (95% CI 64.0-91.8) for PE at <37 weeks and 31.8% (95% CI 18.6-47.6) for PE at ≥37 weeks, at a 10% FPR. Conclusion: Our data suggest that the FMF algorithm provides effective first-trimester screening for preterm PE.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Relationship between vitamin D status in pregnancy and the risk for preeclampsia: A nested case-control study.

International audienc

Vitamin D status during pregnancy and in cord blood in a large prospective French cohort.

International audienceDespite the recommended supplementation, vitamin D insufficiency is frequent during pregnancy and in newborns in France

Cell-free DNA analysis in maternal blood: comparing genome-wide versus targeted approach as a first-line screening test

info:eu-repo/semantics/publishe

Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts

Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy. Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy. Results: fCES identified the underlying genetic cause in 13% (24/183) of prospective and 29% (35/120) of retrospective cases. In both cohorts, recessive heterozygous compound genotypes were not rare, and trio and simplex variant analysis strategies were complementary to achieve the highest possible diagnostic rate. Limited prenatal phenotypic information led to interpretation challenges. In 2 prospective cases, in-depth analysis allowed expansion of the spectrum of prenatal presentations for genetic syndromes associated with the SLC17A5 and CHAMP1 genes. Conclusion: fCES is diagnostically efficient in fetuses presenting with cerebral, skeletal, urinary, or multiple anomalies. The comparison between the 2 cohorts highlights the importance of providing detailed phenotypic information for better interpretation and prenatal reporting of genetic variants. (C) 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved