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Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects

Department of Genetics and Developmental Biology, Human Genetics Laboratory, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030-3808, USA
J. Clin. Med. 2014, 3(2), 537-565; https://doi.org/10.3390/jcm3020537
Received: 20 February 2014 / Revised: 11 April 2014 / Accepted: 14 April 2014 / Published: 21 May 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 1)
Recent advances in molecular genetic technologies have facilitated non-invasive prenatal testing (NIPT) through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be used to identify monogenic disorders including the identification of autosomal recessive disorders where the maternally inherited mutation needs to be identified in the presence of an excess of maternal DNA that contains the same mutation. In the future, simultaneous screening for multiple monogenic disorders is anticipated. Several NIPT methods have been developed to screen for trisomy. These have been shown to be effective for fetal trisomy 21, 18 and 13. Although the testing has been extended to sex chromosome aneuploidy, robust estimates of the efficacy are not yet available and maternal mosaicism for gain or loss of an X-chromosome needs to be considered. Using methods based on the analysis of single nucleotide polymorphisms, diandric triploidy can be identified. NIPT is being developed to identify a number of microdeletion syndromes including α-globin gene deletion. NIPT is a profoundly important development in prenatal care that is substantially advancing the individual patient and public health benefits achieved through conventional prenatal screening and diagnosis. View Full-Text
Keywords: prenatal screening; prenatal diagnosis; non-invasive prenatal testing; cell-free DNA; aneuploidy; monogenic disorders; sequencing; Down syndrome; sex chromosome abnormalities prenatal screening; prenatal diagnosis; non-invasive prenatal testing; cell-free DNA; aneuploidy; monogenic disorders; sequencing; Down syndrome; sex chromosome abnormalities
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Benn, P. Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects. J. Clin. Med. 2014, 3, 537-565.

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