The RASopathies are a group of clinically defined developmental syndromes caused by
germline variants of the RAS/mitogen‐activated protein (MAPK) cascade. The prototypic …

The introduction of Next Generation Sequencing (NGS) technologies has exerted a
significant impact on prenatal diagnosis. Prenatal Exome Sequencing (pES) is performed …

Purpose Cytogenetic analysis provides important information for prenatal decision-making
and genetic counseling. Optical genome mapping (OGM) has demonstrated its …

First-trimester septated cystic hygroma occurs in approximately 1 in 268 pregnancies and
has long been associated with a markedly increased risk of fetal aneuploidy and, among …

Objective To estimate the incremental yield of detecting pathogenic or likely pathogenic
diagnostic genetic variants (DGV) by whole exome sequencing (WES) over standard …

Objective Nonimmune hydrops fetalis (NIHF) is associated with poor perinatal outcomes
including preterm birth (PTB). However, the frequency and causes of PTB in this population …

Numerous prenatally diagnosed anatomic conditions have become amenable to intrauterine
procedures due to our ability to capitalize on novel diagnostic tools such as prenatal …

(1) Background: Numerous etiologies may lead to non-immune hydrops fetalis (NIHF).
However, the causes remain unclear in half of NIHF cases following current standard …

Genetic counseling should include comprehensive information on all modalities,
advantages, disadvantages, and the gestational age for each test prior to screening. The …

Key points What is already known about this topic? Exome and genome sequencing is
increasingly used in prenatal diagnosis. Clinicians face numerous challenges in how to …