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Clinical Chemistry 53: 173-179, 2007. First published December 7, 2006; 10.1373/clinchem.2006.075085
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Right arrow Molecular Diagnostics and Genetics
(Clinical Chemistry. 2007;53:173-179.)
© 2007 American Association for Clinical Chemistry, Inc.

Molecular Diagnostics and Genetics

Microsatellite Markers within —SEA Breakpoints for Prenatal Diagnosis of HbBarts Hydrops Fetalis

Sherry Sze Yee Ho1, Samuel S. Chong2,4, Evelyn S.C. Koay3,4, Yiong Huak Chan5, Ponnusamy Sukumar1, Lily-Lily Chiu4, Wen Wang2, Ashim Roy1, Mary Rauff1, Lin Lin Su1, Arijit Biswas1 and Mahesh Choolani1,a

Departments of1 Obstetrics & Gynaecology, 2 Paediatrics, and 3 Pathology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
4 Molecular Diagnosis Centre, National University Hospital, Singapore.
5 Biostatistic Unit, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.

aAddress correspondence to this author at: Department of Obstetrics and Gynaecology, National University of Singapore, 5 Lower Kent Ridge Road, Singapore 119074. Fax 65-6779-4753; e-mail obgmac{at}nus.edu.sg.

Background: We sought to develop a rapid prenatal diagnostic test for simultaneous detection of HbBarts hydrops fetalis and exclusion of maternal contamination.

Methods: We developed a multiplex quantitative fluorescent PCR (QF-PCR) test that detects the presence/ absence of 2 microsatellite markers (16PTEL05/16PTEL06) located within breakpoints of the Southeast Asia (—SEA) deletion. HbBarts hydrops fetalis (—SEA/—SEA) is diagnosed by absence of both markers, and maternal contamination of fetal DNA is excluded by absence of noninherited maternal alleles. Fetal and parental DNA samples from 50 families were analyzed in a blinded clinical validation study, and QF-PCR results were compared with their respective molecular genotypes.

Results: The multiplex QF-PCR results included correct diagnoses of HbBarts hydrops fetalis in 11 of the fetuses tested, correct verification as unaffected in 20 fetuses, and correct identification as either carriers ({alpha}{alpha}/—SEA) or unaffected homozygotes in 18. Misidentification as unaffected occurred for 1 carrier. Sensitivity for diagnosis of HbBarts hydrops fetalis was 100% [lower 95% confidence interval, 76.2%], and specificity was 100% (lower 95% confidence interval, 92.6%). None of the samples tested showed any traces of noninherited maternal alleles; thus false-positives because of maternal contamination were eliminated.

Conclusions: In this QF-PCR method, detection of maternally and paternally inherited fetal alleles allowed diagnosis of the double-deletion syndrome, and the ability to differentiate between these alleles allowed simultaneous exclusion of maternal contamination of the fetal genetic material. This novel strategy using cell-free fetal DNA in maternal plasma could form the basis for noninvasive testing for HbBarts hydrops fetalis.




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
D. Li
A Multiplex Quantitative Fluorescent PCR Test for Prenatal Diagnosis of Hb Barts Hydrops Fetalis
Clin. Chem., May 1, 2007; 53(5): 991 - 992.
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