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- Publisher Website: 10.1002/(SICI)1097-0223(199706)17:6<501::AID-PD89>3.0.CO;2-L
- Scopus: eid_2-s2.0-0030982115
- PMID: 9203207
- WOS: WOS:A1997XF72200001
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Article: Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks' gestation
Title | Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks' gestation |
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Authors | |
Keywords | α-thalassaemia Cordocentesis Haemoglobin Bart's disease Prenatal diagnosis Ultrasound examination |
Issue Date | 1997 |
Publisher | John Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252 |
Citation | Prenatal Diagnosis, 1997, v. 17 n. 6, p. 501-504 How to Cite? |
Abstract | Couples with α-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. |
Persistent Identifier | http://hdl.handle.net/10722/180626 |
ISSN | 2023 Impact Factor: 2.7 2023 SCImago Journal Rankings: 0.986 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lam, YH | en_US |
dc.contributor.author | Tang, MHY | en_US |
dc.date.accessioned | 2013-01-28T01:40:44Z | - |
dc.date.available | 2013-01-28T01:40:44Z | - |
dc.date.issued | 1997 | en_US |
dc.identifier.citation | Prenatal Diagnosis, 1997, v. 17 n. 6, p. 501-504 | en_US |
dc.identifier.issn | 0197-3851 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/180626 | - |
dc.description.abstract | Couples with α-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. | en_US |
dc.language | eng | en_US |
dc.publisher | John Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252 | en_US |
dc.relation.ispartof | Prenatal Diagnosis | en_US |
dc.subject | α-thalassaemia | - |
dc.subject | Cordocentesis | - |
dc.subject | Haemoglobin Bart's disease | - |
dc.subject | Prenatal diagnosis | - |
dc.subject | Ultrasound examination | - |
dc.subject.mesh | Cordocentesis | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Gestational Age | en_US |
dc.subject.mesh | Hemoglobins, Abnormal - Analysis | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Hydrops Fetalis - Diagnosis | en_US |
dc.subject.mesh | Pregnancy | en_US |
dc.subject.mesh | Pregnancy, High-Risk - Blood | en_US |
dc.subject.mesh | Prenatal Diagnosis - Methods | en_US |
dc.subject.mesh | Retrospective Studies | en_US |
dc.subject.mesh | Alpha-Thalassemia - Blood | en_US |
dc.title | Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks' gestation | en_US |
dc.type | Article | en_US |
dc.identifier.email | Tang, MHY: mhytang@hkucc.hku.hk | en_US |
dc.identifier.authority | Tang, MHY=rp01701 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1002/(SICI)1097-0223(199706)17:6<501::AID-PD89>3.0.CO;2-L | en_US |
dc.identifier.pmid | 9203207 | - |
dc.identifier.scopus | eid_2-s2.0-0030982115 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0030982115&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 17 | en_US |
dc.identifier.issue | 6 | en_US |
dc.identifier.spage | 501 | en_US |
dc.identifier.epage | 504 | en_US |
dc.identifier.isi | WOS:A1997XF72200001 | - |
dc.publisher.place | United Kingdom | en_US |
dc.identifier.scopusauthorid | Lam, YH=7202563903 | en_US |
dc.identifier.scopusauthorid | Tang, MHY=8943401300 | en_US |
dc.identifier.issnl | 0197-3851 | - |