Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center
This study provides powerful evidence supporting the efficacy of CMA as a valuable tool for facilitating the prenatal genetic diagnosis of fetal CL/P. The presence of CP and CLP in fetal cases demonstrated a relatively higher incidence of pathogenic/likely pathogenic CNVs. Moreover, when these cases were accompanied by additional ultrasound abnormalities, the likelihood of identifying diagnostic CNVs significantly increased. Conversely, cases of CL alone might not be associated with positive CNVs. The present data may significantly enhance prenatal diagnosis accuracy and facilitate informed genetic counseling for cases of fetal CL/P.
Authors
- You Wang (ORCID: https://orcid.org/0000-0002-5405-1255)
- Min Pan (ORCID: https://orcid.org/0000-0002-9781-0637)
- Ruibin Huang (ORCID: https://orcid.org/0000-0001-8929-7805)
- Shujuan Yan (ORCID: https://orcid.org/0000-0001-5676-9052)
- Can Liao (ORCID: https://orcid.org/0000-0002-0056-5453)
- Chunling Ma
- Fei Guo (ORCID: https://orcid.org/0009-0004-2149-7228)
- Qiuxia Yu (ORCID: https://orcid.org/0000-0003-4621-7523)
- Hang Zhou (ORCID: https://orcid.org/0000-0002-1233-5065)
- Zhen Li (ORCID: https://orcid.org/0000-0001-8037-4245)
- Ru Li (ORCID: https://orcid.org/0000-0001-7332-7790)
- Dong‐Zhi Li (ORCID: https://orcid.org/0000-0002-4583-6800)
- Fucheng Li (ORCID: https://orcid.org/0000-0002-5245-7542)
- Fang Fu
- Xin Jin (ORCID: https://orcid.org/0000-0001-6461-6005)
Institutions
- Guangzhou Women and Children Medical Center (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2024-08-21
- DOI
- https://doi.org/10.1186/s13052-024-01720-y
- Citations
- 1
- Primary Topic
- Cleft Lip and Palate Research
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- National Natural Science Foundation of China
- Guangzhou Municipal Science and Technology Bureau