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Article

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

Journal of Korean medical science - 23 Sept 2024

Yang Misun, Kim Jee Ah, Jo Heui Seung, Park Jong-Ho, Ahn So Yoon, Sung Se In, Park Won Soon, Cho Hye-Won, Kim Jeong-Min, Park Mi-Hyun, Park Hyun-Young, Jang Ja-Hyun, Chang Yun Sil

Abstract excerpt

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...

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Identifiers

PMID: 39315442
DOI: 10.3346/jkms.2024.39.e250
PMCID: PMC11419962

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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