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Article: Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks' gestation

TitlePrenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks' gestation
Authors
Issue Date1997
PublisherJohn 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?
AbstractCouples 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 Identifierhttp://hdl.handle.net/10722/180626
ISSN
2015 Impact Factor: 3.043
2015 SCImago Journal Rankings: 1.450
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, YHen_US
dc.contributor.authorTang, MHYen_US
dc.date.accessioned2013-01-28T01:40:44Z-
dc.date.available2013-01-28T01:40:44Z-
dc.date.issued1997en_US
dc.identifier.citationPrenatal Diagnosis, 1997, v. 17 n. 6, p. 501-504en_US
dc.identifier.issn0197-3851en_US
dc.identifier.urihttp://hdl.handle.net/10722/180626-
dc.description.abstractCouples 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.languageengen_US
dc.publisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252en_US
dc.relation.ispartofPrenatal Diagnosisen_US
dc.subject.meshCordocentesisen_US
dc.subject.meshFemaleen_US
dc.subject.meshGestational Ageen_US
dc.subject.meshHemoglobins, Abnormal - Analysisen_US
dc.subject.meshHumansen_US
dc.subject.meshHydrops Fetalis - Diagnosisen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPregnancy, High-Risk - Blooden_US
dc.subject.meshPrenatal Diagnosis - Methodsen_US
dc.subject.meshRetrospective Studiesen_US
dc.subject.meshAlpha-Thalassemia - Blooden_US
dc.titlePrenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks' gestationen_US
dc.typeArticleen_US
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_US
dc.identifier.authorityTang, MHY=rp01701en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/(SICI)1097-0223(199706)17:6<501::AID-PD89>3.0.CO;2-Len_US
dc.identifier.pmid9203207-
dc.identifier.scopuseid_2-s2.0-0030982115en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030982115&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume17en_US
dc.identifier.issue6en_US
dc.identifier.spage501en_US
dc.identifier.epage504en_US
dc.identifier.isiWOS:A1997XF72200001-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridLam, YH=7202563903en_US
dc.identifier.scopusauthoridTang, MHY=8943401300en_US

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