Identify placental pathology‐related complications, labor and neonatal outcomes in pregnancies complicated by pathological nuchal translucency (NT) with normal microarray analysis.

To study the feasibility of using unbalanced embryos as a reference in distinguishing euploid carrier and noncarrier embryos by single nucleotide polymorphism (SNP) array‐based preimplantation genetic testing (PGT) for reciprocal translocations.

The physical exchange of DNA between homologs, crossing‐over, is essential to orchestrate the unique, reductional first meiotic division (MI). In females, the events of meiotic recombination that serve to tether homologs and facilitate their disjunction at MI occur during fetal development, preceding the MI division by several decades in our species. Data from studies in humans and mice demonstrate

The limited number of large fetal cohort studies on common arterial trunk (CAT) impedes prenatal counselling at mid‐gestation. This study evaluates the prognosis of CAT from a fetal perspective.

To assess the correlation between Z‐scores of positive NIPT results and the positive predictive value (PPV) of non‐invasive prenatal testing (NIPT).

To investigate the role of the interpeduncular angle (IPA) as a new indicator of intracranial hypotension in fetuses with open spinal dysraphism (SD).

The aim is to develop a novel noninvasive prenatal testing (NIPT) method that simultaneously performs fetal aneuploidy screening and the detection of de novo and paternally derived mutations.

Investigate factors that influence the decision to accept or decline diagnostic testing for pregnant women referred for genetic counseling

What's already known about this topic?

Fetal aortic valvuloplasty (FAV) for severe aortic stenosis (AS) has shown promise in averting progression to hypoplastic left heart syndrome. After FAV, predicting which fetuses will achieve a biventricular (BiV) circulation after birth remains challenging. Identifying predictors of postnatal circulation on late gestation echocardiography will improve parental counseling.

There has been a recent explosion in the use of artificial intelligence (AI), which is now part of our everyday lives. Uptake in medicine has been more limited, although in several fields there have been encouraging results showing excellent performance when AI is used to assist in a well‐defined medical task. Most of this work has been performed using retrospective data, and there have been few clinical

To investigate the performance of the machine learning (ML) model in predicting small‐for‐gestational‐age (SGA) at birth, using second‐trimester data.

To evaluate the efficacy of three different carrier screening workflows designed to identify couples at risk for having offspring with autosomal recessive conditions.

To study the clinical significance of brain germinal matrix (GM) changes in CMV infected fetuses.

Heart anomalies represent nearly one‐third of all congenital anomalies. They are currently diagnosed using ultrasound. However, there is a strong need for a more accurate and less operator‐dependent screening method. Here we report a metabolomics characterization of maternal serum in order to describe a metabolomic fingerprint representative of heart congenital anomalies.

An omphalocele is a congenital defect in the abdominal wall characterized by absent abdominal muscles, fascia and skin. The characteristic ultrasound appearance includes a midline defect with herniation of abdominal contents into the base of the umbilical cord. Other anatomic abnormalities are seen in ∼50% of cases, most notably cardiac defects (19‐32%). Approximately 50% of cases are associated with

Ploidy or genome‐wide chromosomal anomalies such as triploidy, diploid/triploid mixoploidy, chimerism and genome‐wide uniparental disomy are the cause of molar pregnancies, embryonic lethality and developmental disorders. While triploidy and genome‐wide uniparental disomy can be ascribed to fertilization or meiotic errors, the mechanisms causing mixoploidy and chimerism remain shrouded in mystery.

To determine the temporal persistence of the residual cell‐free DNA (cfDNA) of the deceased co‐twin in maternal circulation after selective fetal reduction and evaluate its long persistence in noninvasive prenatal testing (NIPT).

Enrichment of circulating trophoblasts (CTs) from maternal blood at week 10 – 13 of gestation, using laminar microscale vortices, and evaluation of the performance of the VTX‐1 Liquid Biopsy System in terms of CT recovery and purity.

We performed a systematic review to summarize the efficacy and safety of in utero stem cells application in preclinical models with myelomeningocele (MMC).

Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) carry high perinatal mortality. Past studies have focused on cardiac predictors of mortality; we sought to describe the fetal echo (FE) extracardiac Dopplers in this cohort and determine their association with perinatal mortality.

To determine etiologies and outcomes of fetal hyperechogenic kidneys (HEK).

The purpose of this study was to describe the genomic deoxyribonucleic acid (DNA) methylation profile in fetuses with gastroschisis, determine whether the profile was inherited, and investigate any possible correlations with maternal risk factors.

Congenital diarrheal disorders (CDDs) are a group of rare diseases among which some present as inherited disorders of intestinal electrolyte transportation: congenital chloride diarrhea (CCD) and congenital sodium diarrhea (CSD) with prenatal manifestations, mainly polyhydramnios, leading to premature delivery. Affected neonates present with watery stools, sometimes mistaken as urine, leading to a

Ex Utero Intrapartum Treatment (EXIT) is utilized for safe delivery when a baby has a compromised airway. The purpose of this retrospective study was to examine the indications and outcomes of 11 children presenting with airway occluding oropharyngeal and cervical teratomas.

The fetal liver circulation has an important role in fetal growth. The intra‐hepatic Umbilical‐Porto‐Systemic Venous Shunt (IHUPSVS) causes a reduction of the umbilical blood flow to the liver and has been reported to have a restrictive effect on fetal growth. The aim of this study was to evaluate the effect of IHUPSVS on fetal growth.

To find out whether the diagnostic yield of prenatal array comparative genomic hybridization (aCGH) can be improved by targeting preselected high‐risk pregnancies.

To understand the evolution of the field of prenatal diagnosis over the past four decades.

This month heralds a new decade and we must all hope that it brings better things than those we experienced in the last year of the old decade! It also brings a new era for Prenatal Diagnosis as we said goodbye to our editor‐in‐chief, Diana Bianchi, after 13 years at the helm. Diana has handed the baton to me and I will do my best to continue to deliver the high standards that Diana has set, but she

Congenital diaphragmatic hernia (CDH) is characterized by a defect in the muscle dividing the thoracic and abdominal cavities. This leads to herniation of the abdominal organs into the thorax and a disturbance of lung development. Two thirds of cases are identified by prenatal ultrasound in the second trimester, which should prompt referral to a tertiary center for prognosis assessment and counseling

Posterior fossa abnormalities (PFAs) are commonly identified within routine screening and are a frequent indication for fetal magnetic resonance imaging (MRI). Although biometric measurements of the posterior fossa (PF) are established on fetal ultrasound and MRI, qualitative visual assessments are predominantly used to differentiate PFAs.

To evaluate the risk of fetal involvement when trisomy 8 mosaicism (T8M) is detected in chorionic villus samples (CVS).

Evaluation of course and outcome of pregnancies with prenatally diagnosed fetal teratomas of various locations in a single center between 2002 and 2019.

Fetal dural sinus thrombosis (DST) is a rare condition. Although numerous case reports exist, the findings appear heterogenous and providing accurate patient counselling remains challenging.

To investigate the incidence of structural and chromosomal abnormalities in cases of fetal edema on early ultrasound prior to non‐invasive prenatal testing (NIPT).

The objective of the study is to assess the clinical application of noninvasive prenatal testing (NIPT) for VTS pregnancies after the treatment of assisted reproductive technology (ART).

To evaluate aneuploidy rate, prognostic factors, and perinatal outcomes following a diagnosis of fetal megacystis at 11–14 week's gestation.

Fetal magnetic resonance imaging (MRI) and spectroscopy (MRS) provide a unique opportunity to non‐invasively measure markers of neurodevelopment in survivors of twin‐twin transfusion syndrome (TTTS).

To examine the relationship between the fraction of cell‐free DNA (cfDNA) affected by aneuploidy compared to the overall fetal fraction of a prenatal screening specimen and its effect on positive predictive value (PPV).

This study was designed to evaluate ventricular size, shape, and function in recipient twins following laser therapy for twin‐twin transfusion syndrome (TTTS), using novel speckle‐tracking techniques.

The aim of the study is to determine the prevalence of RASopathies in a polyhydramnios cohort selected by postnatal medical genetics evaluation.

The study was designed to assess the impact of socioeconomic barriers on the rate of prenatal diagnosis of critical congenital heart disease (CCHD).

1 INTRODUCTION/AIMS The aim of this Position Statement from the International Society for Prenatal Diagnosis (ISPD) is to review the relevant published literature and make evidence‐based recommendations regarding screening twin and triplet pregnancies for Down syndrome via cell free (cf)DNA testing. This Position Statement should not be taken to be an endorsement that cfDNA is the optimal choice for

We aimed to develop cell‐based NIPT for cystic fibrosis (CF) and test a pregnancy at risk of two common pathogenic variants.

To assess the performance of the Danish first trimester screening program in twin pregnancies.

Uniparental disomy (UPD) is defined as two copies of a whole chromosome derived from the same parent. There can be multiple mechanisms that lead to UPD; these are reviewed in the context of contemporary views on the mechanism leading to aneuploidy. Recent studies indicate that UPD is rare in an apparently healthy population and also rare in spontaneous abortion tissues. The most common type of UPD

Prenatal work‐up for congenital diaphragmatic hernia (CDH) is important for risk stratification, standardization, counseling, and optimal therapeutic choice. To determine current practice patterns regarding prenatal CDH work‐up, including prenatal ultrasound and magnetic resonance imaging (MRI) use, and to identify areas for standardization of such evaluation between fetal centers.

Chromosomal‐microarray‐analysis (CMA) can identify variants of uncertain clinical significance, susceptibility‐loci for neurodevelopmental conditions, and risk for adult‐onset conditions. We explored choices made by couples undergoing prenatal CMA, their understanding of these findings, reasons for and against receiving them, and whether they believe parents or professionals should decide which are

Due to the maternally‐inherited nature of mitochondrial DNA (mtDNA), there is a lack of information regarding fetal mtDNA in the plasma of pregnant women. We aim to explore the presence and topologic forms of circulating fetal and maternal mtDNA molecules in surrogate pregnancies.

As the use of non‐invasive prenatal testing (NIPT) increases, its benefits and concerns are being examined through surveys, qualitative studies, and bioethical analysis. However, only scant research has examined public discourse on the topic. This research examined NIPT discussions on the social media platform Reddit.

Running randomized clinical trials (RCT) in fetal therapy is challenging. This is no different for fetoscopic endoluminal tracheal occlusion (FETO) for severe left‐sided Congenital Diaphragmatic Hernia (CDH). We assessed the knowledge, attitude and practice (KAP) of maternal‐fetal medicine specialists toward the antenatal management of CDH, and the randomized controlled clinical (RCT) “Tracheal Occlusion

To reveal a first‐trimester sonographic marker associated with combined duodenal and esophageal atresia (DA and EA).

Widely accepted, validated and objective measures of ultrasound competency have not been established for clinical practice. Outcomes of training curricula are often based on arbitrary thresholds, such as the number of clinical cases completed. We aimed to define metrics against which competency could be measured.

Hyperechoic lung lesions are largely detected prenatally but their underlying etiology is still poorly defined. The aim of the study was to determine the concordance between pre and postnatal diagnosis of hyperechoic lung lesions.

To determine the yield of prenatal testing and screening options after identification of fetal structural abnormalities using a novel mathematical model.

To evaluate time of diagnosis of 22q11.2 deletion and 22q11.2 duplication as well as trisomies 21, 13, and 18 before and after introduction of a prenatal screening program including combined first‐trimester screening (cFTS) for the trisomies in Denmark in 2004.

Identify early pregnancy associations of congenital heart disease (CHD) in a multiethnic cohort.

Agenesis of the ductus venosus (ADV) has been associated with additional anomalies in up to 83% of cases. We sought to investigate characteristics, co‐morbidities and outcomes of ADV in the current era. We hypothesized that rates of cardiac and non‐cardiac diagnoses and survival would be higher, due to advances in genetic testing, prenatal diagnosis and surveillance.

To evaluate the association between prenatally detected isolated ventricular septum defects (VSDs) and chromosomal aberrations in a nationwide study in Denmark.