Details

Autor(en) / Beteiligte

• Qin, Y Y
• Yao, Y Y
• Liu, N
• Wang, B
• Liu, L J
• Li, H
• Gao, T X Z
• Xu, R H
• Wang, X Y
• Song, J P

Titel

Whole exome sequencing analysis and prenatal diagnosis in children with neurodevelopmental disorders

Ist Teil von

• Zhōnghuá yùfáng-yīxué zázhì, 2023-05, Vol.57 (5), p.753

Ort / Verlag

China

Erscheinungsjahr

2023

Quelle

MEDLINE

Beschreibungen/Notizen

• To explore the application value of whole exome sequencing (WES) in the diagnosis of prenatal and postnatal neurodevelopmental disorders (NDDs). A total of 70 patients diagnosed with NDDs who underwent WES at the Medical Genetics Center of the Maternal and Child Health Hospital of Hubei Province between June 2020 and July 2021 were retrospectively analyzed. Genomic DNA was extracted from peripheral blood samples and amniotic fluid. WES-based copy number variant (CNV) analysis was integrated into the routine WES data analysis pipeline. The results showed that a molecular diagnosis rate could be made in 21/70 (30%) cases. Of 21 positive cases, 14 (23%) cases were detected by single-nucleotide variant/small insertion/deletion (SNV/Indel) analysis, of which 12 variants were novel, 6 (9.8%) cases were detected by WES-based CNV analysis, and 1 (1.6%) case was detected by a combination of both. The diagnostic yield of WES combined with CNV analysis was higher than that of SNV/Indel analysis alone (30%, 21/70 20%, 14