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Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective study

6 Oct 2025

Abstract excerpt

BACKGROUND: Fetal structural anomalies detected by prenatal ultrasound were reported in 3-5% of pregnancies, and they range from a single, minor anomaly to multiple systemic anomalies. Tests designed to identify the genetic factors (chromosomal or monogenic) responsible for the vast majority of fetal structural anomalies play a crucial role in prenatal diagnosis. A retrospective analysis was performed to assess...

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 41053595
DOI: 10.1186/s12884-025-08167-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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