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Vol 85, No 3 (2014)
ARTICLES
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Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum – preliminary results

Grzegorz Jakiel, Anna Kucińska-Chahwan, Barbara Pawłowska, Janusz G. Zimowski, Diana Massalska, Alicja Ilnicka, Katarzyna Gorzelnik, Julia Bijok, Tomasz Roszkowski
DOI: 10.17772/gp/1715
·
Ginekol Pol 2014;85(3).

open access

Vol 85, No 3 (2014)
ARTICLES

Abstract

Objectives: The aim of the study was to present initial results of non-invasive prenatal diagnosis of common aneuploidies of chromosomes 21, 18 and 13 based on cell-free fetal DNA in maternal serum in high-risk patients, and to compare the results with routine karyotyping. Material and methods: Before the invasive procedure, 10 ml of peripheral blood from 10 patients was collected to isolate cell-free fetal DNA and to perform a non-invasive fetal trisomy test (NIFTY provided by Beijing Genomics Institute, BGI, Shenzen, China). Results: Three out of 10 samples showed an abnormal karyotype in traditional karyotyping. There were 9 conclusive NIFTY results. NIFTY detected 1 out of 2 trisomies 18. The quantity of cell-free fetal DNA in maternal plasma in the second probe with trisomy 18 was unsatisfactory for a conclusive NIFTY result. In 1 case traditional karyotyping revealed mosaicism impossible to detect with NIFTY.

Abstract

Objectives: The aim of the study was to present initial results of non-invasive prenatal diagnosis of common aneuploidies of chromosomes 21, 18 and 13 based on cell-free fetal DNA in maternal serum in high-risk patients, and to compare the results with routine karyotyping. Material and methods: Before the invasive procedure, 10 ml of peripheral blood from 10 patients was collected to isolate cell-free fetal DNA and to perform a non-invasive fetal trisomy test (NIFTY provided by Beijing Genomics Institute, BGI, Shenzen, China). Results: Three out of 10 samples showed an abnormal karyotype in traditional karyotyping. There were 9 conclusive NIFTY results. NIFTY detected 1 out of 2 trisomies 18. The quantity of cell-free fetal DNA in maternal plasma in the second probe with trisomy 18 was unsatisfactory for a conclusive NIFTY result. In 1 case traditional karyotyping revealed mosaicism impossible to detect with NIFTY.

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Keywords

NIFTY, cffDNA, non-invasive prenatal diagnosis NIPD, cell free fetal DNA - cffDNA, non-invasive fetal trisomy test - NIFTY

About this article
Title

Non-invasive prenatal diagnosis of the most common aneuploidies with cell-free fetal DNA in maternal serum – preliminary results

Journal

Ginekologia Polska

Issue

Vol 85, No 3 (2014)

Page views

1082

Article views/downloads

3949

DOI

10.17772/gp/1715

Bibliographic record

Ginekol Pol 2014;85(3).

Keywords

NIFTY
cffDNA
non-invasive prenatal diagnosis NIPD
cell free fetal DNA - cffDNA
non-invasive fetal trisomy test - NIFTY

Authors

Grzegorz Jakiel
Anna Kucińska-Chahwan
Barbara Pawłowska
Janusz G. Zimowski
Diana Massalska
Alicja Ilnicka
Katarzyna Gorzelnik
Julia Bijok
Tomasz Roszkowski

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