open access

Vol 84, No 8 (2013)
ARTICLES
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Noninvasive prenatal diagnosis of trisomy 21, 18 and 13 using cel – free fetal DNA

Katarzyna Gorzelnik, Julia Bijok, Grzegorz Jakiel, Tomasz Roszkowski, Janusz G. Zimowski
DOI: 10.17772/gp/1629
·
Ginekol Pol 2013;84(8).

open access

Vol 84, No 8 (2013)
ARTICLES

Abstract

Trisomy 21, 18 and 13 are the most common trisomies diagnosed in newborns. Screening methods consist of ultrasound and maternal serum markers. High risk for fetal aneuploidies is an indication for routine karyotyping, which requires collection of fetal tissue through amniocentesis or chorionic villous sampling. They are invasive procedures and carry a potential risk of miscarriage. The discovery of cell free fetal DNA (cffDNA) in maternal blood offered new opportunities for noninvasive prenatal diagnosis. The fraction of cell-free fetal DNA in total pool of cell-free DNA in maternal plasma is very low, therefore the analysis of cffDNA is very challenging. The introduction of massive parallel sequencing has enabled the application of noninvasive prenatal testing in the clinical practice and a variety of recent studies have proven its high efficacy in diagnosing common aneuploidies.

Abstract

Trisomy 21, 18 and 13 are the most common trisomies diagnosed in newborns. Screening methods consist of ultrasound and maternal serum markers. High risk for fetal aneuploidies is an indication for routine karyotyping, which requires collection of fetal tissue through amniocentesis or chorionic villous sampling. They are invasive procedures and carry a potential risk of miscarriage. The discovery of cell free fetal DNA (cffDNA) in maternal blood offered new opportunities for noninvasive prenatal diagnosis. The fraction of cell-free fetal DNA in total pool of cell-free DNA in maternal plasma is very low, therefore the analysis of cffDNA is very challenging. The introduction of massive parallel sequencing has enabled the application of noninvasive prenatal testing in the clinical practice and a variety of recent studies have proven its high efficacy in diagnosing common aneuploidies.
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Keywords

noninvasive prenatal diagnosis, cffDNA, chromosomal aneuploidies

About this article
Title

Noninvasive prenatal diagnosis of trisomy 21, 18 and 13 using cel – free fetal DNA

Journal

Ginekologia Polska

Issue

Vol 84, No 8 (2013)

DOI

10.17772/gp/1629

Bibliographic record

Ginekol Pol 2013;84(8).

Keywords

noninvasive prenatal diagnosis
cffDNA
chromosomal aneuploidies

Authors

Katarzyna Gorzelnik
Julia Bijok
Grzegorz Jakiel
Tomasz Roszkowski
Janusz G. Zimowski

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