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    Noninvasive prenatal testing: A new standard of care?

     

    Dr. Levine is Clinical Fellow, Reproductive Endocrinology & Infertility, Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medical College, New York. 

    Dr. Goldschlag is Assistant Professor of Clinical Obstetrics and Gynecology and Assistant Professor of Clinical Reproductive Medicine, Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medical College, New York.

    Neither author has a conflict of interest to report with respect to the content of this article. 

    Look for the second part of this 2-part series on noninvasive prenatal testing in the November 2014 issue of Contemporary OB/GYN.

    The presence of fetal DNA in maternal plasma and serum was first reported nearly 20 years ago.1 Fetal DNA is believed to be primarily placenta-derived and comprises 3% to 13% of total cell-free maternal DNA. Studies of women who have conceived by in vitro fertilization have demonstrated that fetal DNA can be detected in maternal serum as early as the seventh week of gestation and there is an increase in cell-free fetal DNA (cfDNA) concentration as pregnancy progresses, although cfDNA is cleared from the maternal blood within hours of childbirth.2

    Although recent data suggest that invasive tests such as amniocentesis and chorionic villus sampling (CVS) are much safer than initially surmised (with risks of miscarriage 0.11% and 0.22%, respectively), obtaining information about a conceptus at an early stage is still the holy grail of prenatal diagnosis.3

    One of the first reproducible applications of cfDNA analysis was detecting fetal RhD sequences in maternal serum of Rh-negative (sensitized) women.4 That study helped advance prenatal diagnosis technology by demonstrating that fetal single-gene disorders could be detected prenatally using DNA isolated solely from maternal serum.

    Part of the motivation for developing maternal blood-based or noninvasive prenatal testing (NIPT) is rooted in the ability to achieve an early diagnosis; even nuchal translucency and analyte-based aneuploidy testing followed by CVS for positive tests generates significant delay between testing and ultimate diagnosis (anywhere between 12 and 14 weeks). However, because genetic technologies appear to be experiencing the same kind of exponential growth as computing technology, NIPT has the ability to capitalize on robust tools for genetic evaluation, allowing for more accurate early diagnoses beyond aneuploidy and single-gene defects.

    Read: Dr. Lockwood on cfDNA

     

    Brian A. Levine, MD, MS, FACOG
    Dr. Levine is Practice Director at the Colorado Center for Reproductive Medicine, New York, New York.
    Dan Goldschlag, MD, FACOG
    Dr. Goldschlag is an assistant professor of Clinical Obstetrics and Gynecology and Assistant Professor of Clinical Reproductive Medicine ...

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