Publication in refereed journal
香港中文大学研究人员 ( 现职)
| Miss Irena HUDECOVA (化学病理学系) |
| 赵慧君教授 (化学病理学系) |
全文
| 数位物件识别号 (DOI) http://dx.doi.org/10.1016/j.bpobgyn.2016.10.016 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/0WOS source URL
其它资讯
摘要Non-invasive prenatal testing (NIPT) using maternal plasma cell free DNA has already reshaped the existing prenatal care system for pregnancies screened for common chromosomal aneuploidies. On the other hand, much progress has been made in developing NIPT for monogenic diseases. Thalassemia served as a disease model to develop strategies for NIPT of monogenic traits. One approach focuses on the detection or exclusion of paternally inherited fetal mutations that are absent from the mother's genome. The assessment of maternally inherited mutations in maternal plasma requires the use of highly sensitive DNA quantification techniques. The relative mutation dosage (RMD) or the relative haplotype dosage (RHDO) approach provides a powerful tool to elucidate the fetal mutational status even in populations with lower genetic diversity, where the parents share the same mutation. With expected decrease in sequencing costs, NIPT for monogenic diseases is becoming an affordable option in prenatal care.
着者Hudecova I, Chiu RWK
期刊名称Best Practice and Research: Clinical Obstetrics and Gynaecology
出版年份2http://aims.cuhk.edu.hk/converis/portal/Publication/017
月份2
卷号39
出版社ELSEVIER SCI LTD
页次63 - 73
国际标準期刊号1521-6934
电子国际标準期刊号1532-1932
语言英式英语
关键词non-invasive prenatal testing, monogenic diseases, aneuploidies, thalassemia, massively parallel sequencing, fetal DNA fractions
Web of Science 学科类别Obstetrics & Gynecology;Obstetrics & Gynecology
