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Article: Two unusual cases of haemoglobin Bart’s hydrops fetalis due to uniparental disomy or non-paternity.

TitleTwo unusual cases of haemoglobin Bart’s hydrops fetalis due to uniparental disomy or non-paternity.
Authors
KeywordsCardiomegaly
Hydrops fetalis
Non-paternity
Prenatal diagnosis
Prenatal ultrasonography
Uniparental disomy
α-Thalassaemia
Issue Date2014
PublisherS Karger AG. The Journal's web site is located at http://www.karger.com/FDT
Citation
Fetal Diagnosis and Therapy: clinical advances and basic research, 2014, v. 35 n. 4, p. 306-308 How to Cite?
AbstractThe authors present 2 unusual cases of haemoglobin (Hb) Bart's hydrops fetalis and highlight the problem of a screening system for alpha-thalassaemia which focuses on maternal and paternal mean corpuscular volume (MCV) alone. Normal paternal MCV may not preclude fetal Hb Bart's disease because of the rare occurrence of maternal uniparental disomy or non-paternity. During a mid-trimester anomaly scan, with fetal cardiomegaly or hydrops in a woman with low MCV but normal paternal MCV, obstetricians should remain alert for fetal Hb Bart's disease. This is very important and relevant for national screening systems in South-East Asia, where a routine mid-trimester scan may not be available. A routine mid-trimester anomaly scan should therefore be implemented and in high prevalence areas, sonographers should be sensitive to the cardio-thoracic ratio even if screening shows that pregnancy is unlikely to be at risk.
Persistent Identifierhttp://hdl.handle.net/10722/203599
ISSN
2023 Impact Factor: 1.6
2023 SCImago Journal Rankings: 0.767
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKou, KOTen_US
dc.contributor.authorLee, Hen_US
dc.contributor.authorLau, Ben_US
dc.contributor.authorWong, WSen_US
dc.contributor.authorKan, SYAen_US
dc.contributor.authorTang, MHYen_US
dc.contributor.authorLau, ETKen_US
dc.contributor.authorPoon, CFen_US
dc.contributor.authorLeung, KYen_US
dc.date.accessioned2014-09-19T15:31:26Z-
dc.date.available2014-09-19T15:31:26Z-
dc.date.issued2014en_US
dc.identifier.citationFetal Diagnosis and Therapy: clinical advances and basic research, 2014, v. 35 n. 4, p. 306-308en_US
dc.identifier.issn1015-3837-
dc.identifier.urihttp://hdl.handle.net/10722/203599-
dc.description.abstractThe authors present 2 unusual cases of haemoglobin (Hb) Bart's hydrops fetalis and highlight the problem of a screening system for alpha-thalassaemia which focuses on maternal and paternal mean corpuscular volume (MCV) alone. Normal paternal MCV may not preclude fetal Hb Bart's disease because of the rare occurrence of maternal uniparental disomy or non-paternity. During a mid-trimester anomaly scan, with fetal cardiomegaly or hydrops in a woman with low MCV but normal paternal MCV, obstetricians should remain alert for fetal Hb Bart's disease. This is very important and relevant for national screening systems in South-East Asia, where a routine mid-trimester scan may not be available. A routine mid-trimester anomaly scan should therefore be implemented and in high prevalence areas, sonographers should be sensitive to the cardio-thoracic ratio even if screening shows that pregnancy is unlikely to be at risk.-
dc.languageengen_US
dc.publisherS Karger AG. The Journal's web site is located at http://www.karger.com/FDT-
dc.relation.ispartofFetal Diagnosis and Therapy: clinical advances and basic researchen_US
dc.rightsFetal Diagnosis and Therapy: clinical advances and basic research. Copyright © S Karger AG.-
dc.subjectCardiomegaly-
dc.subjectHydrops fetalis-
dc.subjectNon-paternity-
dc.subjectPrenatal diagnosis-
dc.subjectPrenatal ultrasonography-
dc.subjectUniparental disomy-
dc.subjectα-Thalassaemia-
dc.titleTwo unusual cases of haemoglobin Bart’s hydrops fetalis due to uniparental disomy or non-paternity.en_US
dc.typeArticleen_US
dc.identifier.emailKan, SYA: kansya@hku.hken_US
dc.identifier.emailTang, MHY: mhytang@hkucc.hku.hken_US
dc.identifier.emailLau, ETK: etklau@hkucc.hku.hken_US
dc.identifier.emailLeung, KY: leungkyb@hkucc.hku.hken_US
dc.identifier.authorityTang, MHY=rp01701en_US
dc.identifier.doi10.1159/000354808en_US
dc.identifier.pmid24051347-
dc.identifier.scopuseid_2-s2.0-84902461494-
dc.identifier.hkuros238640en_US
dc.identifier.volume35en_US
dc.identifier.issue4-
dc.identifier.spage306en_US
dc.identifier.epage308en_US
dc.identifier.isiWOS:000337661700010-
dc.publisher.placeSwitzerland-
dc.identifier.issnl1015-3837-

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