Obstet Gynecol Sci.  2013 Mar;56(2):58-66. 10.5468/OGS.2013.56.2.58.

Non-invasive prenatal diagnosis of fetal trisomy 21 using cell-free fetal DNA in maternal blood

Affiliations
  • 1Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea. hmryu@yahoo.com
  • 2Laboratory of Medical Genetics, Medical Research Institute, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.

Abstract

Since the existence of cell-free fetal DNA (cff-DNA) in maternal circulation was discovered, it has been identified as a promising source of fetal genetic material in the development of reliable methods for non-invasive prenatal diagnosis (NIPD) of fetal trisomy 21 (T21). Currently, a prenatal diagnosis of fetal T21 is achieved through invasive techniques, such as chorionic villus sampling or amniocentesis. However, such invasive diagnostic tests are expensive, require expert technicians, and have a miscarriage risk approximately 1%. Therefore, NIPD using cff-DNA in the detection of fetal T21 is significant in prenatal care. Recently, the application of new techniques using single-molecular counting methods and the development of fetal-specific epigenetic markers has opened up new possibilities in the NIPD of fetal T21 using cff-DNA. These new technologies will facilitate safer, more sensitive and accurate prenatal tests in the near future. In this review, we investigate the recent methods for the NIPD of fetal T21 and discuss their implications in future clinical practice.

Keyword

Cell-free fetal DNA; Noninvasive prenatal diagnosis; Trisomy 21

MeSH Terms

Abortion, Spontaneous
Amniocentesis
Chorionic Villi Sampling
Diagnostic Tests, Routine
DNA
Down Syndrome
Epigenomics
Female
Humans
Pregnancy
Prenatal Care
Prenatal Diagnosis
Trisomy
DNA
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