noninvasive prenatal diagnosis


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noninvasive prenatal diagnosis

Abbreviation: NIPD
Any test used to identify birth defects that relies on the analysis of blood or easily obtained body fluids.
See also: diagnosis
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References in periodicals archive ?
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia.
However, such a precise degree of mutation quantification for noninvasive prenatal diagnosis has not previously been possible due to the presence of a high background of maternal DNA interfering with the analysis of the small amount of circulating fetal DNA in maternal plasma.
Considering that the prenatal diagnosis of monogenic disorders is still performed in a family-based setting in which a genetically confirmed proband or carrier has been identified, this method has a practical advantage that proband diagnosis, carrier detection, and noninvasive prenatal diagnosis can be accomplished efficiently with a single platform.
As mentioned above, the use of fetal cells in maternal blood for noninvasive prenatal diagnosis is complicated by the persistence of certain fetal cell populations from one pregnancy to the next (13).
Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing.
The discovery of cell-free fetal DNA in maternal plasma in 1997 has catalyzed the development of noninvasive prenatal diagnosis (1).
Recent large studies have confirmed that noninvasive prenatal diagnosis for fetal aneuploidies is achievable (1-7).
Its existence offers opportunities for noninvasive prenatal diagnosis, including Down syndrome detection (9), but fetal DNA coexists in the mother's plasma with a large background of maternal DNA (10).
Since 2006 we have been storing maternal plasma samples from all women who undergo invasive prenatal diagnosis at University College London Hospitals, with a view to develop noninvasive prenatal diagnosis (NIPD) [6] for a variety of genetic conditions (6).
Noninvasive prenatal diagnosis (NIPD) [2] has developed substantially since the discovery in 1997 that appreciable amounts of free fetal DNA occur in maternal plasma (1).