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Article: Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks - Experience with the first 59 cases

TitlePrenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks - Experience with the first 59 cases
Authors
Issue Date2000
PublisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252
Citation
Prenatal Diagnosis, 2000, v. 20 n. 11, p. 900-904 How to Cite?
AbstractWe have shown that fetuses affected by haemoglobin (Hb) Bart's disease can be reliably identified by their sonographic manifestation of cardiac enlargement at 12-14 weeks. Between 1995 and 1999, 282 couples were seen before 15 weeks. They were offered the options of chorionic villus sampling, or amniocentesis and DNA study, or ultrasound examination at 12-14 weeks, followed by cordocentesis and Hb study only when the ultrasound findings were abnormal. Two hundred and thirty-four at-risk pregnancies had ultrasound assessment at 12-14 weeks, 62 fetuses showed enlarged cardiothoracic ratio [mean (SD) 0.54 (0.02)] and four of them also had hydropic changes. Fifty-nine women agreed to undergo cordocentesis at 12-14 weeks and the procedure was successful in 57 cases (97%). Cordocentesis were performed by a freehand technique using a 26- or 24-gauge spinal needle with a 20-gauge introducer. Fifteen fetuses (25%) had bleeding from the cord and 12 fetuses (20%) had bradycardia following cordocentesis. The fetal loss rate was 8% (5/59). Hb Bart's disease was confirmed in all the 62 fetuses with cardiac enlargement. Their Hb concentration ranged between 3.1 to 8.4 g/dl. One hundred and seventy-two fetuses had normal ultrasound assessment and 148 of them were confirmed to be unaffected by Hb Bart's disease. Twenty-three pregnancies were ongoing and one miscarried at 15 weeks. We believe that sonographic assessment followed by selective cordocentesis at 12-14 weeks is a feasible prenatal diagnostic option for Hb Bart's disease. Copyright (C) 2000 John Wiley and Sons, Ltd.
Persistent Identifierhttp://hdl.handle.net/10722/180651
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.accessioned2013-01-28T01:40:53Z-
dc.date.available2013-01-28T01:40:53Z-
dc.date.issued2000en_US
dc.identifier.citationPrenatal Diagnosis, 2000, v. 20 n. 11, p. 900-904en_US
dc.identifier.issn0197-3851en_US
dc.identifier.urihttp://hdl.handle.net/10722/180651-
dc.description.abstractWe have shown that fetuses affected by haemoglobin (Hb) Bart's disease can be reliably identified by their sonographic manifestation of cardiac enlargement at 12-14 weeks. Between 1995 and 1999, 282 couples were seen before 15 weeks. They were offered the options of chorionic villus sampling, or amniocentesis and DNA study, or ultrasound examination at 12-14 weeks, followed by cordocentesis and Hb study only when the ultrasound findings were abnormal. Two hundred and thirty-four at-risk pregnancies had ultrasound assessment at 12-14 weeks, 62 fetuses showed enlarged cardiothoracic ratio [mean (SD) 0.54 (0.02)] and four of them also had hydropic changes. Fifty-nine women agreed to undergo cordocentesis at 12-14 weeks and the procedure was successful in 57 cases (97%). Cordocentesis were performed by a freehand technique using a 26- or 24-gauge spinal needle with a 20-gauge introducer. Fifteen fetuses (25%) had bleeding from the cord and 12 fetuses (20%) had bradycardia following cordocentesis. The fetal loss rate was 8% (5/59). Hb Bart's disease was confirmed in all the 62 fetuses with cardiac enlargement. Their Hb concentration ranged between 3.1 to 8.4 g/dl. One hundred and seventy-two fetuses had normal ultrasound assessment and 148 of them were confirmed to be unaffected by Hb Bart's disease. Twenty-three pregnancies were ongoing and one miscarried at 15 weeks. We believe that sonographic assessment followed by selective cordocentesis at 12-14 weeks is a feasible prenatal diagnostic option for Hb Bart's disease. Copyright (C) 2000 John Wiley and Sons, Ltd.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.meshAdulten_US
dc.subject.meshBradycardia - Etiologyen_US
dc.subject.meshCardiomegaly - Congenital - Ultrasonographyen_US
dc.subject.meshCordocentesis - Adverse Effects - Methodsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHemoglobins, Abnormal - Analysisen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPregnancy Trimester, Firsten_US
dc.subject.meshPregnancy, High-Risk - Blooden_US
dc.subject.meshPrenatal Diagnosis - Methodsen_US
dc.subject.meshAlpha-Thalassemia - Blood - Genetics - Ultrasonographyen_US
dc.titlePrenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks - Experience with the first 59 casesen_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.pmid11113892-
dc.identifier.scopuseid_2-s2.0-0033657718en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0033657718&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume20en_US
dc.identifier.issue11en_US
dc.identifier.spage900en_US
dc.identifier.epage904en_US
dc.identifier.isiWOS:000165613000008-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridLam, YH=7202563903en_US
dc.identifier.scopusauthoridTang, MHY=8943401300en_US

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