Document Detail


Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks' gestation.
MedLine Citation:
PMID:  9203207     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Y H Lam; M H Tang
Related Documents :
7937577 - Congenital malformations subsequent to chorionic villus sampling: outcome analysis of 1...
14605507 - Prenatal diagnosis for arginase deficiency: a case study.
17991107 - The role of autopsy following pregnancy termination for fetal abnormality.
11857617 - Prenatal diagnosis of a lethal form of netherton syndrome by spink5 mutation analysis.
172827 - Fetal lung maturatio. iii. amniotic fluid phosphatidic acid phosphohydrolase (papase) a...
24349837 - Twin fetuses papyraeci in a spontaneous triplet pregnancy presenting with unexplained p...
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  17     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1997 Jun 
Date Detail:
Created Date:  1997-08-21     Completed Date:  1997-08-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  501-4     Citation Subset:  IM    
Affiliation:
Department of Obstetrics and Gynaecology, University of Hong Kong, Tsan Yuk Hospital, Hong Kong.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
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:
0/Hemoglobins, Abnormal; 9056-09-1/hemoglobin Bart's

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  The year 1995-1996 in review: genetically re-engineering clinical nephrology.
Next Document:  Misdiagnosis of homozygous alpha-thalassaemia 1 may occur if polymerase chain reaction alone is used...