2002
DOI: 10.1002/pd.251
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Usefulness of automated chromatography for rapid fetal blood analysis for second trimester prenatal diagnosis of β‐thalassemia

Abstract: Prenatal diagnosis of beta-thalassemia is now ideally done in the first trimester of pregnancy by chorionic villus tissue DNA analysis. Nevertheless, fetal blood analysis in the second trimester is required either when the mutation in both parents cannot be characterised or when the couple comes late for investigations. We evaluated the usefulness of analysis of fetal blood on the Biorad Variant Hemoglobin Testing System using the beta-thalassemia short programme in comparison with the conventional globin bios… Show more

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Cited by 15 publications
(12 citation statements)
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“…According to our earlier study, Hb A levels of 0 to 0.4% on HPLC in the fetal blood was suggestive of a homozygous or compound heterozygous fetus, whereas Hb A levels above 2% on the VARIANT TM (Bio-Rad Laboratories) analyzer were suggestive of a heterozygous β-thal or a normal fetus (6). One of the limitations of fetal blood analysis by this analyzer is that it cannot distinguish between β + /β 0 and β + /β + homozygotes and between β + heterozygotes and normal subjects.…”
Section: Discussionmentioning
confidence: 98%
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“…According to our earlier study, Hb A levels of 0 to 0.4% on HPLC in the fetal blood was suggestive of a homozygous or compound heterozygous fetus, whereas Hb A levels above 2% on the VARIANT TM (Bio-Rad Laboratories) analyzer were suggestive of a heterozygous β-thal or a normal fetus (6). One of the limitations of fetal blood analysis by this analyzer is that it cannot distinguish between β + /β 0 and β + /β + homozygotes and between β + heterozygotes and normal subjects.…”
Section: Discussionmentioning
confidence: 98%
“…These couples often undergo cordocentesis between 18 and 20 weeks' gestation and analysis of fetal blood by HPLC. As this method is quick, cost effective and simple, it has been adopted over the conventional method of estimating the relative rates of synthesis of β-globin chains that was cumbersome, time consuming, expensive, required expertise, and was thus not feasible to establish at several centers (6). Besides this, there are couples in whom the mutations cannot be identified as most centers do not have facilities for DNA sequencing and they have to undergo fetal blood analysis in the second trimester.…”
Section: Discussionmentioning
confidence: 99%
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“…Institute of Immunohaematology started to contribute significantly in haemoglobinopathy research during this period, Dr. Colah (nee :Pavri) under the leadership of Dr. H.M. Bhatia developed Prenatal Diagnostic Technology for B-thalassemia using globin chain synthesis studies [46] later on they modified the technique based on DNA technology [47] and further simplified it in the favour of 2nd trimester diagnosis using cordocentesis and HPLC [48]. Several centers including one in Delhi and at CMC Vellore developed DNA technology based for prenatal diagnosis.…”
Section: Hemoglobinopathy and Red Cell Enzymopathymentioning
confidence: 99%
“…Fetal blood sampling was initially conducted by fetoscopy under ultrasound guidance, and later by cordocentesis. The diagnosis was undertaken either by globin chain synthesis, using 3 H leucine and carboxymethylcellulose chromatography, or by automated HPLC [7, 8]. Estimating the amount of HbA in mid-trimester fetuses using the Variant Hemoglobin Testing System (Bio-Rad, Hercules, Calif., USA) and the β-Thalassemia Short Program (Bio-Rad) was found to be a valid alternative to the more cumbersome globin biosynthesis, and it was more cost-effective.…”
Section: Community Control Of Haemoglobinopathiesmentioning
confidence: 99%