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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Editorial Board Member: Gillery, Philippe / Kazmierczak, Steven / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Whitfield, John B.

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Use of maternal plasma for non-invasive prenatal diagnosis of fetal ABO genotypes

Jin-Lai Meng1 / Xie-Tong Wang2 / Yu Wang3 / Ya-Fei Yue4 / Xin Wang5 / Zi-Jiang Chen6

1Department of Obstetrics and Gynecology, Shandong Provincial Hospital of Shandong University, Jinan, China and Department of Obstetrics and Gynecology, the First Hospital of Xi'an Jiaotong University, Xi'an, China

2Department of Obstetrics and Gynecology, Shandong Provincial Hospital of Shandong University, Jinan, China

3Department of Obstetrics and Gynecology, Shandong Provincial Hospital of Shandong University, Jinan, China and Department of Obstetrics and Gynecology, the First Hospital of Xi'an Jiaotong University, Xi'an, China

4Department of Obstetrics and Gynecology, the First Hospital of Xi'an Jiaotong University, Xi'an, China

5Department of Obstetrics and Gynecology, Shandong Provincial Hospital of Shandong University, Jinan, China and Department of Obstetrics and Gynecology, the First Hospital of Xi'an Jiaotong University, Xi'an, China

6Department of Obstetrics and Gynecology, Shandong Provincial Hospital of Shandong University, Jinan, China and Department of Obstetrics and Gynecology, the First Hospital of Xi'an Jiaotong University, Xi'an, China

Corresponding author: Prof. Zi-Jiang Chen, Department of Obstetrics and Gynecology, Shandong Provincial Hospital of Shandong University, 324 Jingwu Weiqi Road, Jinan 250021, China Phone: +86-531-86881281, Fax: + 86-531-87068226,

Citation Information: Clinical Chemical Laboratory Medicine. Volume 45, Issue 8, Pages 981–986, ISSN (Online) 14374331, ISSN (Print) 14346621, DOI: 10.1515/CCLM.2007.193, August 2007

Publication History

Received:
2007-02-09
Accepted:
2007-04-16
Published Online:
2007-08-09

Abstract

Background: Measurement of free fetal DNA in maternal plasma opened a door for non-invasive prenatal diagnosis. Prenatal diagnosis of fetal ABO genotypes can provide a basis for the prevention and therapy of maternal-fetal incompatibility. We identified fetal ABO genotypes using fetal DNA in plasma from pregnant women with blood group O. The aim of the study was to investigate the accuracy and feasibility of this method.

Methods: A total of 105 blood group O women in middle or late pregnancy were enrolled. Fetal DNA in maternal plasma and genomic DNA in umbilical vein blood from newborns were extracted using a QIAamp DNA Blood Kit. DNA was amplified to identify ABO genotypes by PCR with sequence-specific primers (PCR-SSP). The genotype results were evaluated using serologic tests for ABO phenotyping.

Results: Using DNA from umbilical vein blood, ABO genotypes of 105 newborns were successfully identified by PCR-SSP. Using fetal DNA from maternal plasma, 88.6% (93/105) fetal ABO genotypes was correct; 12 false results were from 66 pregnant women with fetuses of type non-O. The accuracy in middle pregnancy was lower than that in late pregnancy, although the difference was not significant (0.05<p<0.10).

Conclusions: It is feasible to use measurement of fetal DNA in plasma from pregnant women with blood group O for prenatal diagnosis of fetal ABO genotypes. The method is useful for the diagnosis and therapy of ABO maternal-fetal incompatibility and hemolytic disease of the newborn.

Clin Chem Lab Med 2007;45:981–6.

Keywords: ABO blood group system; maternal plasma; polymerase chain reaction; prenatal diagnosis

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