The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal noninvasive prenatal screening.

Background: Evidence comparing the yield of chromosomal microarray analysis to noninvasive prenatal screening in pregnancies with congenital heart anomalies is currently limited.

Objective: This study aimed to examine the residual risk of clinically significant chromosomal microarray analysis results in fetuses with congenital heart defects by its various subtypes following a normal noninvasive prenatal screening.

Study Design: Using a population-based, countrywide computerized database, we retrieved the reports of all pregnancies undergoing chromosomal microarray analysis because of congenital heart defects through the years 2013-2019.

A Potentially Malignant Giant Esophageal Paraganglioma.

Paragangliomas are rare neuroendocrine tumors derived from extraadrenal autonomic paraganglia, which may secrete catecholamines. They are potentially metastatic and require very long-term follow-up. Esophageal paragangliomas are extremely rare and present a diagnostic challenge.

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

In this exciting era of "next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide precise delineation of balanced chromosomal rearrangements at the nucleotide level. Given the increased risk of congenital abnormalities in newborns with de novo balanced chromosomal rearrangements, comprehensive interpretation of breakpoints could substantially improve prediction of phenotypic outcomes and support perinatal medical care. Herein, we present and evaluate sequencing results of balanced chromosomal rearrangements in ten prenatal subjects with respect to the location of regulatory chromatin domains (topologically associated domains [TADs]).

High cytomegalovirus IgG avidity is a reliable indicator of past infection in patients with positive IgM detected during the first trimester of pregnancy.

Objective: To evaluate the accuracy of high cytomegalovirus (CMV) specific IgG avidity in excluding recent infection in patients with anti-CMV IgM antibodies detected during the first trimester, using amniotic fluid obtained by standard amniocentesis.

Methods: Records of all patients with a positive anti-CMV IgM with IgG avidity >65% detected during pregnancy were reviewed. Amniocentesis for CMV assessment was offered to all patients.