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

Experience managing triplet pregnancies has increased over the past few decades as the incidence has changed related to assisted reproductive practices. Physicians caring for women carrying triplets cannot predict an individual outcome or pregnancy course but must educate patients about the challenges related to these high risk pregnancies. Obstetric providers can describe the wide range of risks associated

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 for the trisomies in Denmark in 2004.

The birth prevalence rate of each common autosomal trisomy generally increases with advancing maternal age and there is a substantial fetal loss rate between late first trimester and term. The literature is reviewed in order to provide the best estimates of these rates, taking account where possible of biases due to prenatal diagnosis and selective termination of pregnancy. There is an almost exponential

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 towards the antenatal management of CDH, and the randomized controlled clinical (RCT) “Tracheal Occlusion

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

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

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

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.

A good medical illustration renders essential aspects of a procedure or condition faithfully, yet idealizes it enough to make it widely applicable. Unfortunately, the live fetus is generally hidden from sight, and illustrating it relies either on autopsy material or manipulated newborn images. High definition volume rendering of diagnostic imaging data can represent hidden conditions with an almost

We examined whether peptide amphiphiles functionalised with adhesive, migratory or regenerative sequences could be combined with amniotic fluid (AF) to form plugs that repair fetal membrane (FM) defects after trauma and co‐culture with connexin 43 (Cx43) antisense.

We explored the potential of genome‐wide epigenomic liquid biopsy for the comprehensive analysis of cell‐free DNA (cfDNA) methylation signatures in maternal plasma in early gestation.

To investigate the incidence of chromosomal abnormalities in the products of conception (POC) of patients with spontaneous miscarriages (SM) and with recurrent pregnancy losses (RPL) and to determine biological mechanisms contributing to RPL.

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.

Preimplantation genetic testing for aneuploidy (PGT‐A) reduces miscarriage risk, increases the success of IVF, shortens time to pregnancy, and reduces multiple gestation rates without compromising outcomes. The progression of PGT‐A has included common application of next‐generation sequencing (NGS) from single nucleotide polymorphism microarray, quantitative real‐time PCR, and array comparative hybridization

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 explore the copy number variants (CNVs) in case of fetal duodenal obstruction and assess the associated prenatal findings and postnatal outcomes.

To evaluate the prevalence of DNA copy number variants (CNVs) detected with array comparative genomic hybridization (CGH) in fetuses with central nervous system (CNS) anomalies. Secondary objectives were to describe the prevalence of CNV in specific CNS abnormalities, in isolated defects or associated with other malformations or fetal growth restriction (FGR).

To compare perinatal outcomes associated with three methods of selective reduction in complicated monochorionic (MC) twin pregnancies: bipolar cord coagulation (BC), fetoscopic or ultrasound guided laser cord occlusion and radiofrequency ablation (RFA).

Parvovirus B19 (B19V) infection is well known for its mild, self‐limiting clinical presentations in children, such as erythema infectiosum. Approximately 40% of women of childbearing age are susceptible to B19V infection. While maternal B19V infection usually has a good prognosis, B19V can cause severe fetal anaemia and pregnancy loss due to its ability to suppress erythroid progenitor cells. Non‐invasive

To quantify carrier testing uptake rates for male partners of women found to be a carrier(s) for autosomal recessive conditions and to understand reasons for declining testing (uptake rate).

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.

The birth prevalence of each common autosomal trisomy (21, 18 and 13) increases with advancing maternal age and this is the most important epidemiological risk factor. Prevalence during pregnancy is also dependent on gestational age. Other factors claimed to influence prevalence include paternal age, ethnicity, family history, premature reproductive aging, parity, twinning, smoking, environmental exposures

Extreme prematurity remains a major cause of neonatal mortality and severe long‐term morbidity. Current neonatal care is associated with significant morbidity due to iatrogenic injury and developmental immaturity of extreme premature infants. A more physiologic approach, replacing placental function and providing a womb‐like environment, is the foundational principle of artificial placenta (AP) and

To describe obstetric and perinatal outcomes in cases of congenital Zika syndrome (CZS).

The purpose of this study was to elucidate the facial morphology and the pattern of internal malformations in three fetuses with RS born to first cousins of Egyptian decent.

We aimed to assess the diagnostic yield of ultrasonography in the identification of the etiology of hydramnios, and the added value of MRI or amniocentesis.

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 demonstrate the feasibility of cell‐free DNA (cfDNA) testing in vanishing twin (VT) pregnancies in routine clinical practice.

In this retrospective study, we describe the clinical course, ultrasound findings and genetic investigations of fetuses affected by fetal akinesia.

Preimplantation genetic testing for aneuploidy (PGT‐A) by copy number analysis is now widely used to select euploid embryos for transfer. Whole or partial chromosome aneuploidy can arise in meiosis, predominantly female meiosis, or in the postzygotic, mitotic divisions during cleavage and blastocyst formation, resulting in chromosome mosaicism. Meiotic aneuploidies are almost always lethal, however

To determine the compliance and effectiveness of fortnightly ultrasound surveillance for detection of twin‐twin transfusion syndrome (TTTS) in monochorionic diamniotic (MCDA) twin gestations.

Presumably, changes in fetal circulation contribute to the delay in maturation of the cortex in fetuses with congenital heart defect (CHD). The aim of the current study is to analyze fetal brain development based on hemodynamic differences, using novel brain‐age prediction software.

To examine the positive predictive value (PPV) of cfDNA screening for sex chromosome aneuploidies (SCA) in a large series of over 90 000 patients.

We conducted a comprehensive evidence‐based review on the epidemiology and current standard of care of gastroschisis management as well as the pathophysiology, rationale and feasibility of fetal therapy as a viable alternative. Gastroschisis is a periumbilical abdominal wall defect characterized by abdominal viscera herniation in utero. It affects 4 in 10 000 live births but the prevalence has steadily

Screening for Down Syndrome (DS) includes traditional ultrasound and serum‐based and cell‐free DNA (cfDNA) testing. While cfDNA testing usually has superior performance, it is significantly more costly. As an alternative, a hybrid strategy combining contingent cfDNA with traditional testing is recommended when universal cfDNA screening is not feasible. This study compares the efficacy of traditional

To evaluate whether chromosomal microarray (CMA) should be offered to fetuses with ultrasonographic soft markers (USMs) in the second trimester.

To evaluate the association of first‐trimester absent nasal bone (NB) and genetic abnormalities at G‐banding karyotype and chromosomal microarray analysis (CMA) according to the nuchal translucency (NT) thickness.

Since prenatal diagnosis of isolated clubfoot has a false positive rate (FP) of 10%‐40%, fetal parameters that might correlate with post‐natal confirmation and grade of severity were investigated.

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

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

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

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 focus (EIF). We sought to evaluate the cost‐effectiveness of a screening strategy that included cfDNA

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.

What's already known about this topic? The identification of vasa previa still remains difficult even for well‐trained obstetricians. Distinction of fetal from maternal veins is especially challenging because both have a slow blood velocity. What does this study add? Changes in venous flow with maternal respiration in vessels around the uterine cervix or lower uterine segment differentiate maternal

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

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.

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

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.

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