| Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks' gestation. | |
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MedLine Citation:
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PMID: 9203207 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Couples with alpha-thalassaemia-1 face a 25 per cent risk of having fetuses with haemoglobin (Hb) Bart's disease. Prenatal diagnosis is conventionally performed by DNA studies of chorionic villi or amniocytes obtained from chorionic villus biopsy or amniocentesis. DNA studies are expensive and time-consuming. We identified 11 affected pregnancies on abdominal ultrasound examination at 12-14 weeks when the placental thickness exceeded the mean plus 2 SD measurement for the gestational week and the cardiothoraic ratio was more than 0.5. Cordocentesis was then performed with a free hand technique. The procedures were successful in ten cases using a 26-gauge spinal needle with a 20-gauge introducer. Hb Bart's disease was confirmed in all cases by Hb electrophoresis. The procedure was unsuccessful in one case when a 22-gauge spinal needle was used. Hb study of fetal blood collected at abortion also confirmed Hb Bart's disease. In conclusion, ultrasound findings of concomitant placentomegaly and cardiomegaly at 12-14 weeks is highly specific of disease in pregnancies at risk of Hb Bart's disease. Cordocentesis and Hb study in pregnancies with these sonographic manifestations may be an alternative prenatal diagnostic approach. This diagnostic approach is of particular value in areas where resources for molecular studies are limited. |
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Authors:
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Y H Lam; M H Tang |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 17 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 1997 Jun |
Date Detail:
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Created Date: 1997-08-21 Completed Date: 1997-08-21 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 501-4 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynaecology, University of Hong Kong, Tsan Yuk Hospital, Hong Kong. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cordocentesis* Female Gestational Age Hemoglobins, Abnormal / analysis* Humans Hydrops Fetalis / diagnosis* Pregnancy Pregnancy, High-Risk / blood* Prenatal Diagnosis / methods* Retrospective Studies alpha-Thalassemia / blood* |
| Chemical | |
Reg. No./Substance:
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0/Hemoglobins, Abnormal; 9056-09-1/hemoglobin Bart's |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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