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J Matern Fetal Neonatal Med. 2016 Oct;29(20):3323-8. doi: 10.3109/14767058.2015.1124263. Epub 2015 Dec 23.

High-resolution melting analysis for noninvasive prenatal diagnosis of IVS-II-I (G-A) fetal DNA in minor beta-thalassemia mothers.

Author information

1
a Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences , Sari , Iran .
2
b Nanomedicine Group, Immunogenetics Research Center, Mazandaran University of Medical Sciences , Sari , Iran , and.
3
c Amir Kola Genetic Laboratory, Babol University of Medical Sciences , Babol , Iran.

Abstract

OBJECTIVES:

The high-resolution melting (HRM) technique is fast, effective and successful method for mutation detection. The aim of this study was to determine the sensitivity and specificity of the HRM method for detection of a paternally inherited mutation in a fetus as a noninvasive prenatal diagnosis of β-thalassemia.

METHODS:

Genomic DNAs were prepared from 50 β-thalassemia minor couples whose pregnancy was at risk for homozygous β-thalassemia. Ten milliliters of the maternal blood from each pregnant woman were collected and after separating plasma stored at -80 °C until analysis. The extracted DNAs were analyzed by HRM real-time PCR for detection of IVS-II-I (G-A) as a paternally inherited mutation. The gold standard was the result of a chorionic villus sampling by a standard reverse dot blotting test.

RESULTS:

The sensitivity and specificity of HRM real-time PCR were 92.6% and 82.6%, respectively. Also, the positive and negative predictive values were 86.2% and 90.47%, respectively.

CONCLUSIONS:

HRM real-time PCR was a sensitive and specific method for determining the paternally inherited mutation in the fetus at risk with thalassemia major.

KEYWORDS:

HRM real-time PCR; IVS II-I (G-A); noninvasive method; prenatal diagnosis; β-thalassemia

PMID:
26600408
DOI:
10.3109/14767058.2015.1124263
[Indexed for MEDLINE]

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