The efficacy of expanded non-invasive prenatal testing (NIPT) in a high-risk twin pregnancies cohort.

Introduction: Our objective was to evaluate the efficacy of expanded non-invasive prenatal testing (NIPT) that includes both trisomies and copy number variants (CNVs) in high-risk twin pregnancies.

Material And Methods: A prospective, double-blinded cohort study was conducted, enrolling 73 high-risk twin pregnancies characterized by increased risk of genetic disorders due to factors such as increased nuchal translucency, structural anomalies, fetal growth restriction, and other factors associated with chromosomal abnormality. Participants underwent invasive karyotyping and chromosomal microarray analysis, alongside separate expanded NIPT for research purposes.

Integrated transcriptomic analysis and machine learning for characterizing diagnostic biomarkers and immune cell infiltration in fetal growth restriction.

Background: Fetal growth restriction (FGR) occurs in 10% of pregnancies worldwide. Placenta dysfunction, as one of the most common causes of FGR, is associated with various poor perinatal outcomes. The main objectives of this study were to screen potential diagnostic biomarkers for FGR and to evaluate the function of immune cell infiltration in the process of FGR.

Perinatal outcome and timing of selective fetal reduction in dichorionic diamniotic twin pregnancies: a single-center retrospective study.

Objective: The study aimed to evaluate the pregnancy outcomes of dichorionic diamniotic twin pregnancies that were reduced to singletons at different gestational ages.

Study Design: This was a retrospective cohort study of twin pregnancies that underwent fetal reduction to singletons in a single tertiary referral center between 2011 and 2020. A total of 433 cases were included.

Placental DNA methylation analysis of selective fetal growth restriction in monochorionic twins reveals aberrant methylated CYP11A1 gene for fetal growth restriction.

Fetal growth restriction (FGR) is associated with increased susceptibility to perinatal morbidity and mortality. Evidence suggests that epigenetic changes play critical roles in the regulation of fetal growth. We sought to present a comprehensive analysis of the associations between placental DNA methylation and selective fetal growth restriction (sFGR), which is a severe complication of monochorionic twin pregnancies, characterized by one fetus experiencing restricted growth.

An Investigation of the Etiologies of Non-Immune Hydrops Fetalis in the Era of Next-Generation Sequence-A Single Center Experience.

(1) Background: Numerous etiologies may lead to non-immune hydrops fetalis (NIHF). However, the causes remain unclear in half of NIHF cases following current standard assessment. The application of prenatal chromosomal microarray analysis (CMA) and exome sequencing (ES) can improve the identification of the etiologies.

Prenatal diagnosis for fetuses with isolated and non-isolated congenital heart defects using chromosomal microarray and exome sequencing.

Objective: To investigate the use of chromosomal microarray (CMA) and Exome sequencing (ES) in fetuses with congenital heart disease (CHD).

Methods: The Fetal Medicine Unit of Shanghai First Maternity and Infant Hospital records were reviewed to ascertain all cases diagnosed with CHD by level 2 ultrasound examination between 2016 and 2019. Cases were categorized as isolated or associated with other abnormalities or fetal growth restriction.

The Value of Exome Sequencing in Thoracoamniotic Shunt for Severe Pleural Effusion with Fetal Hydrops: A Retrospective Clinical Study.

Objective: We aimed to study the value of exome sequencing (ES) in severe pleural effusion with nonimmune hydrops fetalis (NIHF) that underwent thoracoamniotic shunt (TAS).

Methods: It was a retrospective study of NIHF that underwent TAS between 2012 and 2020 at Shanghai First Maternity and Infant Hospital. After a detailed assessment, NIHF cases with aneuploidies, infections, and structural anomalies were excluded, and TAS was offered to cases with severe pleural effusion.

Risk factors for fetal death after radiofrequency ablation for complicated monochorionic twin pregnancies.

Objective: Radiofrequency ablation (RFA) is a management alternative for complicated monochorionic twin pregnancies. The purpose of this study is to evaluate risk factors for fetal death after RFA.

Methods: An observational study was performed to document the perinatal outcomes of all cases undergoing fetal reduction using RFA from 2010 to 2016 at the Shanghai First Maternity and Infant Hospital.

Outcome of dichorionic triamniotic triplet: the experience from an emerging fetal therapy center.

Objectives: To report a cohort of dichorionic triamniotic (DCTA) triplets with access to contemporary fetal interventions.

Design: Prospective study.

Setting: A regional referral center for the diagnosis and management of complicated multiple pregnancies.