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2014 ; 3
(2
): 537-65
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Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent
Developments and Future Prospects
#MMPMID26237390
Benn P
J Clin Med
2014[May]; 3
(2
): 537-65
PMID26237390
show ga
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 ?-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.