Screening of Women in the Antenatal Period for Thalassemia Carrier Status: Comparison of NESTROFT, Red Cell Indices, and HPLC Analysis

 

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Abstract

Thalassemia is the most common inherited blood disorder in India. In β-thalassemia, there is defective formation of β-globin chains which leads to severe anemia requiring repeated blood transfusions. With the help of antenatal screening for β-thalassemia followed by prenatal diagnosis, “couples at-risk” can avoid having affected children without remaining childless and can spare themselves from months of anxiety awaiting the outcome of pregnancy [1, 2]. The present study was conducted from 2008 through 2010. One thousand antenatal women with gestational age less than 20 weeks were studied. NESTROFT, CBC, and HPLC analysis of blood samples were done in all the patients. Husbands of women detected to be carriers of β-thalassemia were also screened to identify the “high-risk couples”. Counseling and prenatal diagnosis was offered to the couple, where both husband and wife were positive for thalassemia trait. Of 1000 women studied during antenatal period, 79 (7.9 %) were detected to have thalassemia trait. Husbands of these women were counseled and advised HPLC test. Only two husbands were diagnosed to have β-thalassemia trait. Of these two “at-risk couples”, genetic testing in one woman showed the fetus to be a carrier, and this pregnancy was continued. In the other lady, the fetus was diagnosed to have thalassemia major and she chose to terminate the pregnancy. The sensitivity and specificity of NESTROFT was found to be 78.48 % and 94.14 %, respectively. These were much better than those of RBC count (>5 million/mL³), MCV (<80 fL) or MCH (<27 pg). The positive predictive value and negative predictive value of NESTROFT was found to be 53.45 % and 98.08 %, respectively. These were also more than those of RBC count (>5 million/mL³, MCV (<80 fL), or MCH (<27 pg). HPLC analysis of the blood is the gold standard for diagnosis of thalassemia trait, but due to its high cost, sophisticated and expensive equipment, it cannot be used in large screening programs. Screening by hematological parameters requires automated analyzer which again may not be possible in small setups catering to a large number of pregnant women. NESTROFT proved to be sensitive, cost effective, rapid, and can be used for field studies and mass-screening programs.

Publication History

Received: 03 March 2015

Accepted: 27 April 2015

Article published online:
08 May 2023

© 2015. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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