Branchio-oto-renal (BOR) spectrum disorders are linked to pathogenic variants in the EYA1 gene, presenting significant challenges for prenatal ultrasound screening due to their phenotypic variability and complexity. Understanding these disorders' phenotypic expressions and genetic foundations is crucial.

To determine the prevalence of genetic and endocrine abnormalities and to assess fetal, neonatal and surgical outcomes in cases of hypospadias associated with fetal growth restriction.

In this article, we present two cases of severe fetal hemolytic anemia based on a beta-thalassaemia trait inherited from a single parent.

To explore the experiences of people having cfDNA screening to detect unbalanced translocations, and to understand motivations for choosing this option.

To determine the exome sequencing results in fetuses with bilateral renal agenesis (BRA).

Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers.

MYRF-related cardiac-urogenital syndrome (MYRF-CUGS) is a rare condition associated with heterozygous MYRF variants. The description of MYRF-CUGS phenotype is mostly based on postnatal cases and 36 affected individuals have been published so far. We aim now to delineate the prenatal phenotype of MYRF-CUGS by reporting clinical data from fetuses and neonates with a pathogenic MYRF variant.

Warsaw Breakage Syndrome (WABS) is a rare autosomal recessive cohesinopathy characterized by growth retardation and congenital anomalies. This report aims to highlight the prenatal diagnosis of WABS through ultrasound findings and genetic testing. We report a case of prenatal diagnosis of WABS in a 24-week gestation fetus exhibiting microcephaly, delayed sulcation, short corpus callosum, cerebellar vermis hypoplasia and intrahepatic portal-systemic shunts. The couple had a history of a prior pregnancy termination due to severe intrauterine growth restriction and cerebral malformations. Whole exome sequencing revealed compound heterozygous pathogenic variants [NM_030653.4:c.1403dupT, p.(Ser469Valfs*32) and c.1672C>T, p.(Arg558*)] in the DDX11 gene, consistent with WABS. The same pathogenic variants were identified in the prior terminated fetus upon subsequent analysis. Postmortem examination of the proband confirmed the prenatal ultrasound findings. This case expands the understanding of the prenatal phenotypic spectrum of WABS by identifying specific cerebral and extracerebral anomalies associated with pathogenic variants in the DDX11 gene. Incorporating advanced genetic diagnostics like whole exome sequencing into prenatal care provides valuable information for genetic counseling and management of rare genetic disorders.

The significance of fetoscopic laser photocoagulation (FLP) in stage I twin-twin transfusion syndrome (TTTS) remains controversial. This study aimed to clarify the outcomes and prognostic factors of stage I TTTS after FLP.

To assess contemporary outcomes of fetuses who underwent open fetal spina bifida surgery in Canada.

This study aimed to assess the application of origin analysis of copy number variations (CNVs) in non-invasive prenatal testing (NIPT) and provide a basis for expanding the clinical application of NIPT.

This study aims to elucidate two distinct fetal ultrasound features associated with aberrant brain sulcus formation as potential prenatal markers for Sotos syndrome caused by mutations in the NSD1 gene.

Providing accurate prenatal prognostication for expectant parents is challenging due to limited literature on factors impacting outcomes in children with congenital aqueductal stenosis (CAS). This study stratified CAS patients into isolated or complex categories (presence of additional intra- or extra-cranial anomalies or genetic syndromes) and evaluated both short- and long-term outcomes. Additionally, the role of ventricular rupture was assessed.

Prenatal exposure to alcohol (PAE) can impact short- and long-term offspring health. However, knowledge on PAE and brain development in early life is limited. This systematic review investigated associations between PAE and brain development during the first 1000 days of life, and was registered in PROSPERO at CRD42022355144. The literature search was performed from inception until February 2024 in EMBASE, MEDLINE, Web of Science, PsycINFO, and the Cochrane Library. Studies investigating PAE and brain development during the first 1000 days using ultrasound, magnetic resonance imaging (MRI) or diffusion tensor imaging (DTI) were included. Our search initially identified 3618 articles, of which 16 were included. The findings suggest inconsistent associations between PAE and early brain development. Ultrasound studies on PAE and brain size report no clear relationship. Some postnatal MRI studies reported smaller thalami, amygdalae and hippocampi in alcohol exposed neonates. Postnatal DTI studies (n = 5) examining network integrity and connectivity reported bidirectional results in multiple brain networks. Our results highlight the need for further research on first trimester brain development, timing and quantity of alcohol exposure using a core set of validated instruments. Longitudinal assessments and standardized procedures for neuroimaging are crucial to understand the impact of PAE on early brain development.

Down syndrome (DS) is a congenital disorder caused by the presence of an extra copy of all or part of chromosome 21. It is characterized by significant intellectual disability, distinct facial features, and growth and developmental challenges. The utilization of metabolomics to analyze specific metabolic markers in maternal amniotic fluid may provide innovative tools and screening methods for investigating the early pathophysiology of trisomy 21 at the functional level.