Abstract Objective To examine the feasibility and performance of implementing a standardized fetal cardiac scan at the time of a routine first-trimester ultrasound scan. Method A retrospective, single-center study in an unselected population between March 2021 and July 2022. A standardized cardiac scan protocol consisting of a four-chamber and 3-vessel...

Abstract Objective This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low-risk pregnancies and apparently normal fetuses in non-consanguineous couples. Methods A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed. Genetic...

Abstract Objective Fetal head and neck masses can result in critical airway obstruction. Our study aimed to evaluate prenatal factors associated with the decision for a definitive airway, including ex-utero intrapartum treatment (EXIT), at birth among at-risk fetuses. Methods A single-institution retrospective review evaluated all fetal head and...

No abstract is available for this article.

Abstract Objectives To determine the incremental yield of prenatal exome sequencing (PES) over standard testing in fetuses with an isolated congenital heart abnormality (CHA), CHA associated with extra-cardiac malformations (ECMs) and CHA dependent upon anatomical subclassification. Methods A systematic review of the literature was performed using...

Abstract Objective Single-nucleotide variants (SNVs) are of great significance in prenatal diagnosis as they are the leading cause of inherited single-gene disorders (SGDs). Identifying SNVs in a non-invasive prenatal screening (NIPS) scenario is particularly challenging for maternally inherited SNVs. We present an improved method to predict inherited...