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Expert Rev Mol Diagn. 2002 Jan;2(1):32-40.

Application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis.

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Department of Chemical Pathology, Chinese University of Hong Kong, Prince of Wales Hospital, Room 38023, I/F Clinical Sciences Bulding, 30-32 Ngan Shing Street, Shatin, New Territories, Hong Kong SAE, China.


Prenatal diagnosis of fetal genetic conditions is a standard part of modern obstetric care. Many of the current methods rely on invasive methods and are associated with an inherent risk of fetal loss. Consequently, there has been a long-term goal for development of noninvasive prenatal diagnostic methods. In 1997, the presence of fetal DNA in maternal plasma was first discovered through the detection of Y-chromosome-specific sequences in the plasma of women conceived with male fetuses. This discovery has opened up new possibilities in the development of noninvasive prenatal diagnostic methods through a source of fetal genetic material that could be conveniently accessible simply through the collection of a maternal peripheral blood sample. To date, there have been numerous reported applications, including fetal RhD genotyping, prenatal diagnosis of sex-linked disorders, paternally inherited genetic diseases and some pregnancy-associated conditions, including preeclampsia. More recently, there have been significant new developments with expanding number of potential applications.

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