Variations in antenatal management and outcomes in haemolytic disease of the fetus and newborn: an international, retrospective, observational cohort study.

Background: Advances in haemolytic disease of the fetus and newborn have led to numerous treatment options. We report practice variations in the management and outcomes of haemolytic disease of the fetus and newborn in at-risk pregnancies.

Methods: In this international, retrospective, observational cohort study, data from cases with moderate or severe haemolytic disease of the fetus and newborn were retrieved from 31 centres in 22 countries.

Neonatal and short-term outcome after late vertical transmission in congenital CMV-infected fetuses following primary first-trimester maternal seroconversion.

Objective: To document the course of neonatal and short-term outcomes in pregnancies after first trimester CMV (cytomegalovirus) seroconversion and negative amniotic fluid (AF) CMV PCR.

Methods: We included 375 patients with a first-trimester CMV seroconversion and amniocentesis at ≥21 weeks. Termination of pregnancy (TOP) was offered in case antenatally severe CMV-related fetopathy was documented either by ultrasound or by MRI.

COVID-19 vaccination protects infected pregnant women from developing SARS-CoV-2 placentitis and decreases the risk for stillbirth.

Introduction: The impact of COVID-19 infection in pregnant women remained unclear for a long time. Previous research showed that SARS-CoV-2 virus is able to infect the placenta, potentially causing significant lesions leading to placental insufficiency. The impact of maternal vaccination status on the prevalence of SARS-CoV-2 placentitis remains unclear.

Outcome of partial agenesis of corpus callosum.

Background: The diagnosis of corpus callosum anomalies by prenatal ultrasound has improved over the last decade because of improved imaging techniques, scanning skills, and the routine implementation of transvaginal neurosonography.

Objective: Our aim was to investigate all cases of incomplete agenesis of the corpus callosum and to report the sonographic characteristics, the associated anomalies, and the perinatal outcomes.

Study Design: We performed a retrospective analysis of cases from January 2007 to December 2017 with corpus callosum anomalies, either referred for a second opinion or derived from the prenatal ultrasound screening program in a single tertiary referral center.

Subsequent fertility, pregnancy, and gynaecological and psychological outcomes after maternal-fetal surgery for open spina bifida: A prospective cohort study.

Objective: To determine the medium-term maternal impact of open fetal spina bifida repair.

Design: Prospective cohort study.

Setting: University Hospitals Leuven, Belgium.

Pregnancy termination at a viable stage in daily clinical practice: A nationwide mortality follow-back study in Flanders, Belgium.

Objective: Congenital malformations are frequently diagnosed prenatally even at a viable stage. No adequate registration of incidence and characteristics of late termination of pregnancy (TOP) or abortion for medical reasons exists in Flanders.

Methods: Nationwide mortality follow-back survey sent to physicians signing death certificates of all stillbirths for 22 weeks gestation onward (September 2016-December 2017) in Flanders, Belgium.

Postmortem MR in termination of pregnancy for central nervous system (CNS) anomalies.

Objectives: To evaluate the concordance of conventional autopsy (CA) and postmortem magnetic resonance (MR) after termination of pregnancy (TOP) in fetuses with prenatally detected central nervous system (CNS) anomalies. Second, to determine the most informative postmortem investigation in parental counseling.

Methods: All TOPs between 2006 and 2016 with prenatally detected CNS involvement and having a postmortem MR and CA as postmortem examinations were retrospectively analyzed and concordance levels were established.

A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium.

Background: The Netherlands and Belgium have been among the first countries to offer non-invasive prenatal testing (NIPT) as a first-tier screening test. Despite similarities, differences exist in counseling modalities and test uptake. This study explored decision-making and perspectives of pregnant women who opted for NIPT in both countries.

Brain development is altered in rabbit fetuses with congenital diaphragmatic hernia.

Introduction: Children with congenital diaphragmatic hernia (CDH) are at risk for neurodevelopmental delay. Some changes are already present prenatally. Herein, we further examined how the brain develops in fetal rabbits with surgically created DH.

Fetal brain maceration score on postmortem magnetic resonance imaging vs. conventional autopsy.

Background: Postmortem fetal magnetic resonance imaging (MRI) has been on the rise since it was proven to be a good alternative to conventional autopsy. Since the fetal brain is sensitive to postmortem changes, extensive tissue fixation is required for macroscopic and microscopic assessment. Estimation of brain maceration on MRI, before autopsy, may optimize histopathological resources.

Pulmonary hypertension in congenital diaphragmatic hernia: Antenatal prediction and impact on neonatal mortality.

Objective: To determine the prevalence of pulmonary hypertension (PAH) in left-sided congenital diaphragmatic hernia (CDH); how we could predict it; and how PAH contributed to the model for mortality prediction.

Study Design: Retrospective analysis in three European centers. The primary outcome was the presence of PAH on postnatal day (d) 1, 7, and at discharge.

RNA-Seq of amniotic fluid cell-free RNA: a discovery phase study of the pathophysiology of congenital cytomegalovirus infection.

Background: Congenital cytomegalovirus infection is the most common perinatal infection and a significant cause of sensorineural hearing loss, cerebral palsy, and neurodevelopmental disability. There is a paucity of human gene expression studies examining the pathophysiology of cytomegalovirus infection.

Objective: This study aimed to perform a whole transcriptomic assessment of amniotic fluid from pregnancies with live fetuses to identify differentially expressed genes and enriched Gene Ontology categories associated with congenital cytomegalovirus infection.

Pre- and postnatal brain magnetic resonance imaging in congenital cytomegalovirus infection: a case report and a review of the literature.

Background: Congenital cytomegalovirus infection (cCMV) is the most common known viral cause of neurodevelopmental delay in children. The risk of severe cerebral abnormalities and neurological sequelae is greatest when the infection occurs during the first trimester of pregnancy. Pre- and postnatal imaging can provide additional information and may help in the prediction of early neurological outcome.

Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.

Background: KCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro-intestinal, cardiovascular, and neurological manifestations.

Methods: Whole exome sequencing was performed in order to identify the underlying pathogenic mutation in two cases presenting with diverse phenotypical manifestations that did not fit into well-known clinical entities.

Results: In an 8-year-old boy presenting with severe aortic dilatation, facial dysmorphism, and overgrowth at birth a de novo p.

Prenatal cerebellar growth is altered in congenital diaphragmatic hernia on ultrasound.

Objective: Children with congenital diaphragmatic hernia (CDH) are at risk for neurodevelopmental delay. Herein we report on prenatal changes in biometry and brain perfusion in fetuses with isolated CDH.

Study Design: This retrospective study evaluated fetuses with isolated, left-sided CDH in three European referral centers.

Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease.

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) causes kidney failure typically in adulthood, but the disease starts . Copeptin, epidermal growth factor (EGF), and monocyte chemoattractant protein-1 (MCP-1) are associated with severity and hold prognostic value in adults but remain unstudied in the early disease stage. Kidneys from adults with ADPKD exhibit macrophage infiltration, and a prominent role of MCP-1 secretion by tubular epithelial cells is suggested from rodent models.

Cortical spectral matching and shape and volume analysis of the fetal brain pre- and post-fetal surgery for spina bifida: a retrospective study.

Purpose: A retrospective study was performed to study the effect of fetal surgery on brain development measured by MRI in fetuses with myelomeningocele (MMC).

Methods: MRI scans of 12 MMC fetuses before and after surgery were compared to 24 age-matched controls without central nervous system abnormalities. An automated super-resolution reconstruction technique generated isotropic brain volumes to mitigate 2D MRI fetal motion artefact.

Incidence and patterns of abnormal corpus callosum in fetuses with isolated spina bifida aperta.

Objective: To determine the incidence and characterise corpus callosum (CC) abnormalities in fetuses with spina bifida aperta (SBA) between 18 and 26 weeks of gestation.

Methods: This was a retrospective study on fetuses with isolated SBA and who were assessed for fetal surgery. Digitally stored ultrasound images of the brain were reviewed for the presence/absence of the CC, and the length and diameter of its constituent parts (rostrum, genu, body and splenium).

Prenatal 3D-ultrasound diagnosis of isolated intrahepatic portal-systemic shunt with intact ductus venosus: A case report and literature review.

We present a case of isolated intrahepatic portosystemic shunts with an aorto- hepatic-umbilical connection; prenatally diagnosed with 3D Doppler flow in a 27-year-old patient at 27 weeks of gestation. Fetal karyotyping was normal, detailed evaluation of the venous and cardiovascular system showed a patent ductus venosus and no other abnormalities. These fetuses with isolated intrahepatic shunts are at risk for intra-uterine growth restriction (27%), all cases had a good prognosis with live births.

Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: review of literature and prenatal case series.

Objective: Middle interhemispheric (MIH) variant of holoprosencephaly (HPE) or syntelencephaly is a rare prosencephalic cleavage disorder. In literature, few cases of accurate prenatal diagnosis have been reported. We report on four additional prenatally diagnosed cases.

The prevalence of brain lesions after in utero surgery for twin-to-twin transfusion syndrome on third-trimester MRI: a retrospective cohort study.

Objective: Due to the increased risk of antenatal brain lesions, we offer a third-trimester magnetic resonance imaging (MRI) scan to all patients who underwent an in utero intervention for twin-twin transfusion syndrome (TTTS). However, the usefulness of such a policy has not been demonstrated yet. Therefore, we determined the prevalence of antenatal brain lesions detected on third-trimester MRI and the proportion of lesions detected exclusively on MRI.