Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center

Autor: Shujuan Yan, Qiuxia Yu, Hang Zhou, Ruibin Huang, You Wang, Chunling Ma, Fei Guo, Fang Fu, Ru Li, Fucheng Li, Xiangyi Jin, Li Zhen, Min Pan, Dongzhi Li, Can Liao
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-9 (2024)
Druh dokumentu: article
ISSN: 1824-7288
DOI: 10.1186/s13052-024-01720-y
Popis: Abstract Backgroud A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and the association between various types of CL/P and copy number variations (CNVs), as well as their impact on birth outcomes. Methods In this retrospective study conducted between January 2016 and July 2022, a cohort of pregnancies diagnosed with fetal CL/P was enrolled and comprehensive clinical data for all cases were extracted from our medical record database, including demographic data about the pregnancies, ultrasound findings, results of Chromosomal microarray (CMA), as well as relevant pregnant and perinatal outcomes. Results Among the 358 cases, 32 clinically significant variants in 29 (8.1%) fetuses with CL/P were detected by CMA. In 338 singleton pregnancies, the diagnostic yield of CMA in the context of CL/P fetuses was determined to be 7.7% (26/338). CP cases exhibited a relatively higher prevalence of pathogenic/likely pathogenic CNVs at a rate of 25% (3/12), followed by CLP cases at 8.0% (23/288). Notably, the CL group did not demonstrate any pathogenic/likely pathogenic CNV findings among the examined cases (0/38). The diagnostic rate of clinically significant variants was notably higher in the non-isolated CL/P group than in the isolated CL/P group (11/33, 33.3% vs. 15/305, 4.9%, p
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