Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met?

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Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met?

The analysis of cell-free fetal nucleic acids in maternal blood for prenatal diagnosis has been transformed by several recent profound technology developments. The most noteworthy of these are 'digital PCR' and 'next-generation sequencing' (NGS), which might finally deliver the long-sought goal of noninvasive detection of fetal aneuploidy. Recent data, however, indicate that NGS might even be a...

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Is cell-free fetal DNA from maternal blood finally ready for prime time?

H prenatal genetic diagnosis for numeric chromosomal abnormalities (trisomy 21) at last reached its desired goal of becoming a definitive test (not a screen)? Can we relegate our invasive diagnostic procedures— chorionic villus sampling (CVS) and amniocentesis—to the museum? The contributions of Bianchi et al1 (see p. 890) and others earlier this year2,3 take us a considerable distance. Of cour...

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An Effective Method for Detecting Y-chromosome Specific Sequences of Circulating Fetal DNA in Maternal Plasma During the First-trimester

Background and Aims: New advances in the use of cell-free fetal DNA (cffDNA) in maternal plasma of pregnant women has provided the possibility of applying cffDNA in prenatal diagnosis as a non-invasive method. One of the applications of prenatal diagnosis is fetal gender determination. Early prenatal determination of fetal sex is required for pregnant women at risk of X-linked and some endocrin...

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Fetal and embryonic hemoglobins in erythroblasts from fetal blood and fetal cells enriched from maternal blood in fetal anemia.

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The potential usefulness of free fetal DNA in maternal blood for prenatal fetal gender determination in multiple pregnancies.

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ژورنال

عنوان ژورنال: Expert Reviews in Molecular Medicine

سال: 2011

ISSN: 1462-3994

DOI: 10.1017/s1462399411001852