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- PMID: 11113892
- WOS: WOS:000165613000008
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Article: Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks - Experience with the first 59 cases
Title | Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks - Experience with the first 59 cases |
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Authors | |
Keywords | α-Thalassaemia Cordocentesis Haemoglobin Bart's disease Prenatal diagnosis Ultrasound examination |
Issue Date | 2000 |
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, 2000, v. 20 n. 11, p. 900-904 How to Cite? |
Abstract | We 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 Identifier | http://hdl.handle.net/10722/180651 |
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 | 2013-01-28T01:40:53Z | - |
dc.date.available | 2013-01-28T01:40:53Z | - |
dc.date.issued | 2000 | en_US |
dc.identifier.citation | Prenatal Diagnosis, 2000, v. 20 n. 11, p. 900-904 | en_US |
dc.identifier.issn | 0197-3851 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/180651 | - |
dc.description.abstract | We 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.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 | Adult | en_US |
dc.subject.mesh | Bradycardia - Etiology | en_US |
dc.subject.mesh | Cardiomegaly - Congenital - Ultrasonography | en_US |
dc.subject.mesh | Cordocentesis - Adverse Effects - Methods | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Hemoglobins, Abnormal - Analysis | en_US |
dc.subject.mesh | Heterozygote | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Pregnancy | en_US |
dc.subject.mesh | Pregnancy Trimester, First | en_US |
dc.subject.mesh | Pregnancy, High-Risk - Blood | en_US |
dc.subject.mesh | Prenatal Diagnosis - Methods | en_US |
dc.subject.mesh | Alpha-Thalassemia - Blood - Genetics - Ultrasonography | en_US |
dc.title | Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks - Experience with the first 59 cases | 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.pmid | 11113892 | - |
dc.identifier.scopus | eid_2-s2.0-0033657718 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0033657718&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 20 | en_US |
dc.identifier.issue | 11 | en_US |
dc.identifier.spage | 900 | en_US |
dc.identifier.epage | 904 | en_US |
dc.identifier.isi | WOS:000165613000008 | - |
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 | - |