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. Amongst 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

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

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

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 T. gondii , mainly spiramycin (Spy) and pyrimethamine

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 non‐pregnant 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

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

OBJECTIVES To evaluate the natural history and outcome of cases of fetal ovarian cyst under conservative prenatal treatment. METHODS A retrospective cohort study included patients diagnosed with fetal ovarian cysts was conducted between January 2008 to December 2016. Data including clinical data, sonographic feature and postnatal outcomes were obtained. RESULTS 102 cases were included for statistical

OBJECTIVE 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

OBJECTIVE Belgian genetic centers established a database containing data on all chromosomal microarrays (CMA) 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). METHODS All children diagnosed with a prenatally detected non-benign CNV in a Belgian genetic center between May 2013 and February

OBJECTIVE We aimed to investigate the value of whole-exome sequencing (WES) in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with/without other structural anomalies but with normal findings upon karyotyping and chromosome microarray analysis (CMA). METHODS Cases with CAKUT with/without other structural anomalies were screened for eligibility. Fetuses with abnormal karyotyping

OBJECTIVE to provide an in-vivo description of early corpus callosum (CC) development. METHODS we reviewed 3D US volumes acquired transvaginally (TVUS) through the anterior fontanelle, between 14-17 weeks. The following landmarks were recognized: tela-choroidea (TC), foramina of Moro, early CC and the evolving cavum septi pellucidi. The following measurements were taken: total, anterior and posterior

OBJECTIVE 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. METHODS The prevalence of iAREDF in MCDA pregnancies with PCI (n = 11) was compared to a control group without PCI (n = 33). PCI

OBJECTIVE 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. METHODS A three center, retrospective cohort study (1992-2013) with linked fetal/neonatal

BACKGROUND Data on neurodevelopmental outcomes of children surviving after fetoscopic laser surgery (FLS) for twin-to-twin transfusion syndrome (TTTS) are scarce. METHODS We retrospectively investigated children surviving after FLS for TTTS at 16 to 26 weeks' gestation between 2003 and 2014. Children were evaluated by standardized neurologic examinations using the Kyoto Scale 2001 at a corrected age

OBJECTIVE To assess the outcome of a thalassemia screening program at community hospitals by determining the proportion of at-risk couples able to obtain a prenatal diagnosis (PND) in relation to gestational age (GA). METHODS We accessed records documenting prenatal screening for thalassemia in lower northern Thailand between January 2014 and December 2016. The proportion of at-risk pregnancies able

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

OBJECTIVES The objective of this study was to assess whether the laterality of congenital diaphragmatic hernia (CDH) was a prognostic factor for neonatal survival. METHODS This was a cohort study using the French national database of the Reference Center for Diaphragmatic Hernias. The principal endpoint was survival after hospitalization in intensive care. We made a comparative study between right

OBJECTIVES To assess the feasibility of retrieval of intact human fetal hearts after first trimester surgical termination of pregnancy (TOP) and subsequent anatomical assessment by postmortem micro-computed tomography (micro-CT). METHODS In a cohort of consenting women undergoing surgical TOP between 8 and 13 weeks' gestation, we attempted the retrieval of the fetal heart from the suction material

OBJECTIVE The purpose of this study was to establish prognostic factors in fetuses diagnosed with periventricular pseudocysts (PVPCs) without known congenital infection, between 28 and 37 weeks of gestation. METHODS This retrospective study included cases of fetal PVPC from 2008 to 2018. PVPCs were classified according to location, number, extension, morphology, and size. Additional findings, MRI and

OBJECTIVE To analyze psychometric properties of two novel instruments assessing decisional distress and uncertainty experienced by individuals considering preimplantation genetic testing (PGT). METHODS The new PGT Decisional Distress instrument (22 items) assesses negative/positive emotions. The new PGT Decisional Uncertainty instrument assesses Clarity about test benefits/disadvantages (5 items) and

OBJECTIVE The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging. METHODS In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the

OBJECTIVE The objective was to evaluate and improve accuracy of anticipatory counseling regarding neonatal intervention for prenatally diagnosed tetralogy of Fallot (TOF) by assessing new and previously published predictors of neonatal intervention. METHODS This is a multi-center, retrospective study from three centers of 112 fetal TOF patients undergoing third trimester fetal echocardiograms from

OBJECTIVE To investigate the genetic causes and clinical outcomes of nonimmune hydrops fetalis (NIHF). METHODS Cohort of cases of NIHF between July 2013 and December 2018. Initial genetic testing included quantitative fluorescence polymerase chain reaction for aneuploidies, karyotyping and chromosomal microarray analysis (CMA). In negative results, whole exome sequencing (WES) of the fetuses and parents

Both human epidemiologic and animal model studies demonstrate that prenatal and lactational exposure to maternal obesity and high-fat diet are associated with adverse neurodevelopmental outcomes in offspring. Neurodevelopmental outcomes described in offspring of obese women include cognitive impairment, autism spectrum disorder (ASD), attention deficit hyperactivity disorder, anxiety and depression

OBJECTIVE We tested the hypothesis that increasing severity of chorioamnion membrane separation (CAS) after fetoscopic laser surgery (FLS) for twin-twin transfusion syndrome (TTTS) is associated with worse pregnancy outcomes. METHODS Prospective cohort of patients undergoing FLS for TTTS between 2011 and 2018. CAS was defined as separation of fetal membranes from the uterine wall on post-operative

BACKGROUND Tests in pregnancy such as chromosomal microarray analysis and exome sequencing are increasing diagnostic yield for fetal structural anomalies, but have greater potential to result in uncertain findings. This systematic review investigated the experiences of prospective parents about receiving uncertain results from these tests. METHODS A systematic search of three electronic databases was

Congenital syphilis (CS) rates reached a 20-year high in the United States in 2018. Unlike previous years, most babies diagnosed with CS were born to mothers who received prenatal care, indicative of the need for better provider education and guideline adherence. Current rates suggest that screening for syphilis should be performed at the first prenatal care visit and twice during the third trimester

OBJECTIVE To report genome-wide cell-free DNA (cfDNA) screening facilitating the diagnosis of Pallister-Killian syndrome (PKS). METHODS This is a retrospective cohort analysis of positive genome-wide cfDNA screening results showing increased signal from chromosome 12 and the detection of PKS. The genome-wide cfDNA screening results and the subsequent investigations were reviewed. RESULTS Three singleton

Fetal tumors represent an infrequent pathology when compared to congenital malformations, although their true incidence may be underestimated. A variety of benign and malignant neoplasms may occur anywhere in the neural axis. Imaging plays an important role in the fetal tumors diagnosis and evaluation of their resultant complications. Discovery of a fetal mass on obstetric ultrasound necessitates further

OBJECTIVES Critical pulmonary stenosis (PS) and pulmonary atresia with intact ventricular septum (PAIVS) require urgent neonatal intervention. Since PS may be more insidious than PAIVS during gestation, we hypothesized that neonates with PS would have lower rates of prenatal detection than PAIVS. METHODS We performed a retrospective chart review of all neonates who underwent diagnostic or interventional

Monochorionic diamniotic twins occur in about 1 in 300 pregnancies. Compared with dichorionic twins, they face increased risks because of the shared circulation. In about 15%, an imbalance in blood exchange occurs, such as twin-twin transfusion syndrome and twin anemia polycythemia sequence. In this review, we summarize the latest evidence on the management of monochorionic diamniotic twin pregnancies

Congenital CMV is the most common congenital infection in the developed world. Infection results in congenital disease ranging from asymptomatic infection to severe neurodevelopmental impairment, and occasionally fetal or neonatal death. Fetal infection can occur through maternal-fetal transmission during primary maternal infection or maternal reactivation or re-infection. Awareness among maternal

BACKGROUND Twin reversed arterial perfusion (TRAP) sequence consists of acardiac twin (A) paradoxically perfused by pump twin (P) through an umbilical artery (UA). We proposed characterization of acardiac twins with intrafetal vascular pattern (IVP), and assessed its correlation with morphology and UA Doppler indices. METHODS We prospectively evaluated 21 cases of TRAP sequence. Morphology (acardia

OBJECTIVE To report our experience and evaluate outcomes in monochorionic pregnancies with Twin Reversed Arterial Perfusion sequence with intrafetal laser therapy. METHODS Retrospective review of records of all pregnancies with TRAP sequence treated by intrafetal laser therapy between 2011 January and 2015 December that were retrieved and analysed. RESULTS Electronic search of the scan database retrieved

Diabetes is an increasingly common diagnosis among pregnant women. Pregestational diabetes is associated with an increase in many adverse pregnancy outcomes, which impact both on the woman and her fetus. The models of pregnancy care for women with diabetes are based largely on observational data or consensus opinion. Strategies for aneuploidy screening and monitoring for fetal well-being should be

OBJECTIVE The objective of this study was to develop new standard growth charts for fetal renal parenchymal thickness, length, and volume to define normal ranges for use in clinical practice and to assess the reliability of these measurements. METHODS This was a prospective, longitudinal study of 72 low-risk singleton pregnancies undergoing serial ultrasound examinations at least every four weeks.

OBJECTIVE To assess the feasibility of identifying structures included in anterior complex (AC) and posterior complex (PC), as well as a series of anatomic landmarks that could help to demonstrate the integrity of the cerebral proximal hemisphere (PH). METHODS This was a prospective observational multicenter study of healthy pregnant women attending routine ultrasound screening at 20 + 0 to 33 + 6 weeks'

OBJECTIVE To determine the key sonographic features for the diagnosis of sirenomelia in the first trimester of pregnancy. METHODS Cases of sirenomelia from several prenatal diagnosis centers were retrospectively identified and reviewed. The diagnosis was established through the detection of fused lower limbs. Additional sonographic findings were also noted. RESULTS A total of 12 cases were collected

OBJECTIVE We aimed to test for an association between the amount of circulating fetal cell-free DNA and trisomy, and whether NIPS failure due to low fetal fraction indicates trisomy risk. METHOD Maternal BMI, maternal age, fetal sex, gestational age, fetal cfDNA fraction, and NIPS results was collected on 2374 pregnancies. Additional clinical information was available for 1180 research consented patients

OBJECTIVES To determine the detection rates of all types of chromosome aberrations and the residual risk for postnatal diagnosis of an atypical chromosome aberration depending on the strategy for further investigation with either noninvasive prenatal testing (NIPT) or invasive testing in pregnancies with increased risk following combined first-trimester screening (cFTS). METHODS A review of all pregnancies

OBJECTIVE To establish whether fetal cerebral vasoreactivity (CVRO2 ), following maternal hyperoxia, is predicted by fetal cerebral and uteroplacental Doppler pulsatility indices (PI) at baseline, fetal pulmonary vasoreactivity to oxygen (PVRO2 ), gestational age (GA), or sex. METHODS Pulsatility index of middle (MCA), anterior (ACA), posterior cerebral (PCA), umbilical (UA), uterine (UtA), and branch

Genome sequencing is increasingly being used to aid genetic diagnosis in fetuses with structural abnormalities detected on ultrasound examination. However, with clinical exome and genome sequencing, there is potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing, but of potential medical value for patient care. In the

To evaluate the “nonreportable” rate in patients treated with heparin and to determine the effect of heparin on the results of noninvasive prenatal testing (NIPT).

OBJECTIVE To investigate whether perioperative fetal hemodynamic changes in twin-twin transfusion syndrome (TTTS) are associated with neurodevelopmental impairment (NDI) at two-years. METHODS Doppler parameters of three sonograms (day before, first day after and one week after laser surgery for TTTS) were assessed for correlation with neurodevelopmental outcome at two-years (2008-2016). NDI was defined

OBJECTIVE To compare prenatal echocardiography with postnatal cardiovascular casting for detection of fetal cardiovascular malformations, and to discuss the causes of prenatal misdiagnosis and missed diagnosis. METHODS We retrospectively identified patients from 2013 to 2018 at our Maternal-Fetal Medicine Center who were reported to have a fetal diagnosis of severe congenital heart malformations (CHMs)

To compare length of stay of the initial neonatal hospitalization and mortality across multiple stages of surgical palliation for infants with left‐sided obstructive lesions and severely restrictive or intact atrial septum (I/RAS).

Thyroid disease is common in women of childbearing age and can have significant effects on the development of the fetus and perinatal outcomes. Maternal thyroid hormone is critical for proper fetal neurodevelopment, and the fetus relies on thyroid hormone from its mother for the first half of pregnancy. Both overt maternal hypothyroidism and overt maternal hyperthyroidism have been shown to be associated

Antenatal corticosteroids are now established as one of the cornerstones of therapy in the prevention of neonatal morbidity and mortality prior to preterm birth. Although this practice is widely accepted, a significant number of controversies exist. This review explores the knowledge gaps regarding the use of antenatal corticosteroids in the preterm, late preterm and term populations. Furthermore,

Management of maternal red cell alloimmunization has been revolutionized over the last 60 years. Advances in the prevention, screening, diagnosis and treatment of alloimmune-induced fetal anemia make this condition an exemplar for contemporary practice in Fetal Therapy. Since survival is now an expectation, attention has turned to optimization of long-term outcomes following an alloimmunized pregnancy

The discovery of cell‐free DNA (cfDNA) in maternal plasma has opened up new promises for the development of non‐invasive prenatal testing (NIPT). Application of cfDNA in NIPT of fetus diseases and abnormalities is restricted by the low amount of fetal DNA molecules in maternal plasma. Fetus‐derived cfDNA in maternal plasma are shorter than maternal DNA, thus leveraging the maternal and fetus‐derived

Prenatal diagnosis of sex discordance is a relatively new phenomenon. Prior to cell-free DNA testing, the diagnosis of a disorder of sexual differentiation was serendipitous, either through identification of ambiguous genitalia at the mid-trimester morphology ultrasound or discovery of genotype-phenotype discordance in cases where preimplantation genetic diagnosis or invasive prenatal testing had occurred

Even though the global COVID-19 pandemic may affect how medical care is delivered in general, most countries try to maintain steady access for women to routine pregnancy care, including fetal anomaly screening. This means that, also during this pandemic, fetal anomalies will be detected, and that discussions regarding invasive genetic testing and possibly fetal therapy will need to take place. For