Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies.

ABSTRACT:

Background

Achieving a definitive genetic diagnosis of unexplained multiple congenital anomalies (MCAs) in neonatal intensive care units (NICUs) infants is challenging because of the limited diagnostic capabilities of conventional genetic tests. Although the implementation of whole genome sequencing (WGS) has commenced for diagnosing MCAs, due to constraints in resources and faculty, many NICUs continue to utilize chromosomal microarray (CMA) and/or karyotyping as the initial diagnostic approach. We aimed to evaluate the diagnostic efficacy of WGS in infants with MCAs who have received negative results from karyotyping and/or CMA.

Methods

In this prospective study, we enrolled 80 infants with MCAs who were admitted to a NICU at a single center and had received negative resul

SUBMITTER: Yang M 

PROVIDER: S-EPMC11419962 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature