Esophageal atresia with/without tracheo‐esophageal fistula (EA/TEF) is more common among twins. The detection of polyhydramnios might be altered in twins, leading to EA/TEF underdiagnosis, prenatally. The aim of the study was to compare the prenatal manifestation of EA/TEF between twins and singletons.

Evidence from epidemiological, clinical, and animal model studies clearly demonstrates that prenatal and lactational maternal obesity and high‐fat diet consumption are associated with cardiometabolic morbidity in offspring. Fetal and offspring sex may be an important effect modifier. Adverse offspring cardiometabolic outcomes observed in the setting of maternal obesity include an increased risk for

To assess the amniocentesis‐related pregnancy loss rate and preterm birth rate among twin pregnancies undergoing amniocentesis.

To review the mosaic autosomal trisomies in chorionic villi sample (CVS) trophoblasts, mesenchyme, and both cell lineages and to compare them with trisomies in spontaneous abortions.

To evaluate the incidence of laryngeal ultrasound (US) abnormalities in fetuses with congenital diaphragmatic hernia (CDH) and to assess the utility of fetal laryngoesophagoscopy for prenatal diagnosis of laryngo‐tracheo‐esophageal anomalies.

Small for gestational age (SGA) fetuses have an increased risk for adverse outcome. Placental insufficiency leads to changes in the circulation, with secondary adaptation of the fetal heart resulting in changed cardiac deformation. This deformation can be measured with 2D speckle tracking echocardiography (2D‐STE). SGA is antenatally often undiagnosed. The measurement of deformation changes in the

There is a general perception that any exposure to medication during pregnancy poses a potential risk to the fetus. Most available data about teratogenic drugs is derived from animal studies, case reports, or cohort studies. As a result, counseling women and their partners about the safety of drugs during pregnancy can be difficult due to limited information about efficacy, pharmacokinetics, and teratogenicity

Outcome data from cell‐free DNA (cfDNA) screening in twin gestations are limited. This study adds an appreciable number of confirmed outcomes to the literature, and assesses performance of cfDNA screening in twins over a 4.5‐year period at one large clinical laboratory.

Congenital CMV infection (cCMV) is the most prevalent congenital infection, main non‐genetic cause of sensorineural hearing loss (SNHL) and major cause of neurological disability. Despite the burden of cCMV, no Public Health body recommends universal serology screening in pregnancy. This was explained by gaps in knowledge of epidemiology, diagnosis, prognosis and the absence of any validated treatment

Cell‐free fetal DNA (cfDNA) has been increasingly incorporated into prenatal aneuploidy screening paradigms given its relatively high sensitivity for Down syndrome (DS). This is often the case when fetal ultrasonographic soft markers are present, such as the relatively common echogenic intracardiac foci (EIF). We sought to evaluate the cost effectiveness of a screening strategy that included cfDNA

To assess and compare fetal loss rates before 28 weeks of singleton and twin pregnancies after mid‐trimester amniocentesis.

To ascertain the perinatal outcomes for an apparently isolated exomphalos detected by prenatal ultrasound.

Worldwide, about 150 000 infants are born with spina bifida yearly, making this condition one of the most common fetal central nervous system anomalies compatible with life. Over the last decade, major changes have been introduced in the prenatal diagnosis and management of spina bifida. In this review, we provide a brief summary of the current management of fetal spina bifida and present essential

Conventional genetic tests (quantitative fluorescent‐PCR [QF‐PCR] and single nucleotide polymorphism‐array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid exome sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in fetal phenotyping, variant interpretation, incidental unsolicited findings, and rapid turnaround times. In this study

Acquired immunodeficiency syndrome (AIDS) was first described in 1981, and continues to be one of the worst global health pandemics in recorded history. Concerted international efforts have helped to increase awareness of human immunodeficiency (HIV) status, improve access to treatment and continuation of therapy to achieve viral suppression with a goal of ending the AIDS epidemic by 2030. The clinical

To compare women's experience of first‐trimester combined screening (FTCS), with women's experience of an approach that uses the combination of a detailed early anatomy scan and cell‐free DNA (cfDNA) analysis.

Discrepancies between cfDNA and ultrasound predicted fetal sex occur, possibly indicating disorders/differences of sex development (DSDs). Among expectant/recent parents, this study assessed: cfDNA knowledge/use, fetal sex determination attitudes/behaviors, general knowledge of DSD, and possible psychological impact of discrepancy between fetal sex on cfDNA and ultrasound.

To examine the incidence and type of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cfDNA test for common trisomies.

The aim of this study was to define the prenatal ultrasound semiology of cleft palate without cleft lip using 3D visualization of the fetal palate.

Data suggest fetuses with congenital heart disease (CHD) have placental abnormalities. Their abnormal placental vasculature may affect fetal placental blood flow, which has not previously been explored.

To establish a method for non‐invasive fetal cell isolation from maternal blood and prenatal testing of monogenic diseases by a combination of direct sequencing and targeted NGS‐based SNP haplotyping from single fetal cells.

The accuracy of cell‐free DNA aneuploidy screening varies by the chromosome assessed. The positive predictive value is consistently low for monosomy X (MX), at less than 30%. This study aims to investigate maternal age and other possible predictors of false positive MX screening results in order to guide pre‐test and post‐test counselling.

We aimed to investigate the value of whole‐exome sequencing (WES) in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with or without other structural anomalies but with normal findings upon karyotyping and chromosome microarray analysis (CMA).

The aim of this retrospective study is to determine the monogenic syndromes in fetuses with isolated first‐trimester increased nuchal translucency (NT) in order to provide more accurate parental counseling.

To evaluate the performance of non‐invasive prenatal sequencing for multiple Mendelian monogenic disorders (NIPS‐M) among fetuses with skeletal abnormalities or increased nuchal translucency (NT).

In gastroschisis, there is evidence to suggest that gut dysfunction develops secondary to bowel inflammation; we aimed to evaluate the effect of maternal antenatal corticosteroids administered for obstetric reasons on time to full enteral feeds in a multicenter cohort study of gastroschisis infants.

This study aims to determine the incidence of ultrasound findings that may change clinical management on the day of blood‐sampling for cell‐free DNA (cfDNA) testing.

To compare the prevalence of intermittent absent or reversed end‐diastolic flow (iAREDF) in the umbilical artery in appropriately grown monochorionic diamniotic (MCDA) pregnancies with and without proximate cord insertion (PCI), and to evaluate pregnancy outcome.

Since December 2019, the novel SARS‐CoV‐2 outbreak has resulted in millions of cases and more than 200 000 deaths worldwide. The clinical course among nonpregnant women has been described, but data about potential risks for women and their fetus remain scarce. The SARS and MERS epidemics were responsible for miscarriages, adverse fetal and neonatal outcomes, and maternal deaths. For COVID‐19 infection

Globally the prevalence of gestational diabetes mellitus (GDM) is rising mainly due to the increase in maternal obesity. A number of different methods to screen for and diagnose GDM have been described although consensus on the preferred methods does not yet exist. GDM has significant short‐ and long‐term health risks for the mother, developing fetus and the children born to mothers with GDM. Short‐term

To describe the lesions detected by prenatal ultrasound examination in congenital toxoplasmosis (CT).

Every year nearly 6 percent of children worldwide are born with a serious congenital malformation, resulting in death or lifelong disability. In the United States, birth defects remain one of the leading causes of infant mortality. Among the common structural congenital defects are conditions known as neural tube defects (NTDs). These are a class of malformation of the brain and spinal cord where the

What's already known about this topic? Confined placental mosaicism (CPM) can prenatally be detected with chorionic villus sampling (CVS) and noninvasive prenatal testing (NIPT). Chromosomally abnormal cells may be restricted to a small part of the placenta. The level of mosaicism detected by CVS does not always reflect the level present in the term placenta. What does this study add? NIPT as compared

Although prenatal diagnosis and prenatal and neonatal therapy of congenital toxoplasmosis are available, there is controversy concerning the effectiveness of prophylaxis to prevent placental transmission. Experimental, parasitological, and clinical data suggest a “window of opportunity” following maternal infection. Among medications active against Toxoplasma gondii , mainly spiramycin (Spy) and pyrimethamine +

To retrospectively analyze the imaging findings of fetal intestinal obstruction diagnosed by MRI and compare with postnatal surgery findings.

Renal development is impaired in fetal growth restriction. Renal size can be considered a surrogate of renal function in childhood, and could be impaired in that condition. Our aim was to evaluate the ratio of total renal volume, measured by three‐dimensional ultrasound, to estimated fetal weight (TRV/EFW) among fetuses with and without growth restriction. Furthermore, we correlated TRV/EFW with fetal

Belgian genetic centers established a database containing data on all chromosomal microarrays performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally with a non‐benign copy number variant (CNV).

1 INTRODUCTION Since December 2019, the novel coronavirus disease (COVID‐19) infection has spread quickly from China to different parts of the world including Iran.1 Since February 18, 2020, over 12 000 confirmed cases of COVID‐19 have been reported in Iran, and more than 150 000 cases in numerous other countries worldwide, with an around 3% to 4% mortality rate as up to March 15. One of the most important

The placental development has been shown to be compromised in pregnancies affected by fetal congenital heart defects (CHD). This study aimed to investigate the frequency of complications related to utero‐placental insufficiency in pregnancies with and without major CHD.

Advances in prenatal genetics place additional challenges as patients must receive information about a growing array of screening and testing options. This raises concerns about how to achieve a shared decision‐making process that prepares patients to make an informed decision about their choices about prenatal genetic screening and testing options, calling for a reconsideration of how healthcare providers

To provide an overview of perinatal outcomes in prenatally diagnosed spontaneous chorioamniotic separation (sCAS).

There remain unanswered questions concerning mother‐to‐child‐transmission (MTCT) of SARS‐CoV‐2. Despite reports of neonatal COVID‐19, SARS‐CoV‐2 has not been consistently isolated in perinatal samples thus, definitive proof of transplacental infection is still lacking. To address these questions, we assessed investigative tools used to confirm maternal‐fetal infection and known protective mechanisms

Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity‐related

To examine the effects of maternal body mass index (BMI) and gestational age (GA) on the number of single circulating trophoblasts (SCT).

Antimicrobial prophylaxis during surgery aims to prevent post‐operative site infections. For fetal surgery, this includes the fetal and amniotic compartments. Both are deep compartments as drug equilibrium with maternal blood is achieved relatively late. Despite prophylaxis, chorio‐amnionitis or endometritis following ex utero intrapartum treatment or fetoscopy occur in 4.13% and 1.45% respectively

To evaluate the natural history and outcome of cases of fetal ovarian cyst under conservative prenatal treatment.

To provide an in‐vivo description of early corpus callosum (CC) development.

Drug entry into the adult brain is controlled by efflux mechanisms situated in various brain barrier interfaces. The effectiveness of these protective mechanisms in the embryo, fetus and newborn brain is less clear. The longstanding belief that "the" blood-brain barrier is absent or immature in the fetus and newborn has led to many misleading statements with potential clinical implications. Here we

OBJECTIVE To review the perinatal management and outcomes of monochorionic twin pregnancies (MC) discordant for congenital anomalies (DCA). METHODS Retrospective study of all MC DCA cases referred to our tertiary referral center from 1997 to 2018. We excluded cases complicated with twin-to-twin transfusion syndrome, twin anemia-polycythemia sequence, twin reversed arterial perfusion sequence or selective

Systemic lupus erythematosus (SLE) primarily affects women of childbearing age and is commonly seen in pregnancy. The physiologic and immunologic changes of pregnancy may alter the course of SLE and impact maternal, fetal, and neonatal health. Multidisciplinary counseling before and during pregnancy from rheumatology, maternal fetal medicine, obstetrics, and pediatric cardiology is critical. Transplacental

Fetal alcohol spectrum disorders (FASD) are a consequence of prenatal alcohol exposure (PAE). The etiology of the complex FASD phenotype with growth deficit, birth defects, and neurodevelopmental impairments is under extensive research. Both genetic and environmental factors contribute to the wide phenotype: chromosomal rearrangements, risk and protective alleles, environmental-induced epigenetic alterations

OBJECTIVE To assess the value of chromosome microarray analysis (CMA) and whole exome sequencing (WES) in fetuses with cerebellar vermis defects (CVD). METHODS From 2013 to 2019, we performed CMA on 43 fetuses with CVD, who were divided into cerebellar vermis hypoplasia (CVH) group and Dandy-Walker malformation (DWM) group according to morphological subtypes. Subsequently, WES was performed on 19 fetuses