Peer-Reviewed Publication
Prenat Diagn2025;45(4):445-452.April 1, 2025Journal Article
Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.
Jun Liao1, Naixin Xu2, Harry Gao3, Tristan Hardy4, Brynn Levy1, Lakshmi Mehta5, Kwong Wai Choy6, Hefeng Huang7,8, Jinglan Zhang7,8
1Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.
2Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.
3Fulgent Genetics, Inc., El Monte, California, USA.
4Monash IVF Genetics, Dulwich, Australia.
5Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
6Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
7Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
8Institute of Medical Genetics and Development, Zhejiang University, Hangzhou, China.
Abstract
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for domin…
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