Combined Cell‐Free DNA Screening for Aneuploidies and Selected Single‐Gene Disorders for Pregnancies With Sonographically Detected Fetal Anomalies: Detection Rate and Residual Risk
In fetuses with sonographic anomalies, the additional DR of combined cfDNA analysis for aneuploidies and 25 SGD was remarkable at 22.9% compared with cfDNA testing for aneuploidies; the overall RR of combined cfDNA analysis was approximately 2.0%. It is essential to provide detailed genetic counseling before using cfDNA analysis in these pregnancies.
Authors
- Hoai‐Nghia Nguyen (ORCID: https://orcid.org/0000-0002-1542-1874)
- Thị Trang Đào (ORCID: https://orcid.org/0000-0002-3971-0400)
- Hoa Giang (ORCID: https://orcid.org/0000-0001-6549-8012)
- Canh Chuong Nguyen
- Thi Lan Anh Luong (ORCID: https://orcid.org/0000-0003-0669-9919)
- Hung Sang Tang (ORCID: https://orcid.org/0009-0007-8484-4954)
- Nguyen Thi Sim (ORCID: https://orcid.org/0009-0002-7746-5976)
- Xuewei Tang (ORCID: https://orcid.org/0009-0000-0746-7269)
- Anh Duy Nguyen (ORCID: https://orcid.org/0000-0003-1362-0332)
- Linh Thuy Dinh (ORCID: https://orcid.org/0009-0002-3456-7518)
Institutions
- Hanoi Medical University (VN)
- University of Medicine and Pharmacy at Ho Chi Minh City (VN)
- Vietnam National Children's Hospital (VN)
- Viet Duc Hospital (VN)
- Hanoi Medical University Hospital (VN)
- Agricultural Genetics Institute (VN)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2024-12-11
- DOI
- https://doi.org/10.1002/pd.6720
- Citations
- 4
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 4.44