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Article: Nuchal translucency in fetuses affected by homozygous α-thalassemia-1 at 12-13 weeks of gestation

TitleNuchal translucency in fetuses affected by homozygous α-thalassemia-1 at 12-13 weeks of gestation
Authors
Issue Date1999
PublisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www.interscience.wiley.com/jpages/0960-7692/
Citation
Ultrasound In Obstetrics And Gynecology, 1999, v. 13 n. 4, p. 238-240 How to Cite?
AbstractObjective. Fetuses affected by homozygous α-thalassemia-1 are anemic in the first trimester. We studied their nuchal translucency (NT) measurements at 12-13 weeks of gestation. Methods. Nuchal translucency was measured prospectively in fetuses at risk of homozygous α-thalassemia-1. Measurements of those fetuses subsequently confirmed to be affected by homozygous α-thalassemia-1 but with a normal Karyotype were compared to those of 440 controls. The controls were from the general obstetric population who had NT measurements at 12 or 13 weeks with known normal outcome. All the NT measurements were expressed as multiples of the median (MoM) for the gestational day. Results. Between 1996 and 1998, 94 at-risk pregnancies were studied. Of these, 32 were subsequently confirmed to be affected by homozygous α-thalassemia-1. Chromosome study was not carried out in three cases and these were excluded from the analysis. Nuchal translucency MoMs for cases and controls were found to fit a log Gaussian distribution. The log means (standard deviation) for case and control NT MoM were 0.075 (0.156) and -0.0019 (0.091), respectively. The median NT MoM (95% CI) for cases was 1.19 (1.08-1.62) and was significantly higher than that of the controls (p < 0.001). However, there was extensive overlap of NT between cases and controls. Conclusion. Overall, there was a 19% increase in NT MoM in fetuses affected by homozygous α-thalassemia-1. This represents a difference of only 0.3-0.4 mm, which is clinically insignificant. This finding indirectly suggests that the increased NT in trisomic fetuses cannot be explained by fetal anemia. Conversely, the presence of increased NT in a fetus at risk of homozygous α-thalassemia-1 should alert one to the possibility of chromosomal abnormality rather than being attributed to fetal anemia.
Persistent Identifierhttp://hdl.handle.net/10722/180647
ISSN
2015 Impact Factor: 4.197
2015 SCImago Journal Rankings: 1.766
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, YHen_US
dc.contributor.authorTang, MHYen_US
dc.contributor.authorLee, CPen_US
dc.contributor.authorTse, HYen_US
dc.date.accessioned2013-01-28T01:40:52Z-
dc.date.available2013-01-28T01:40:52Z-
dc.date.issued1999en_US
dc.identifier.citationUltrasound In Obstetrics And Gynecology, 1999, v. 13 n. 4, p. 238-240en_US
dc.identifier.issn0960-7692en_US
dc.identifier.urihttp://hdl.handle.net/10722/180647-
dc.description.abstractObjective. Fetuses affected by homozygous α-thalassemia-1 are anemic in the first trimester. We studied their nuchal translucency (NT) measurements at 12-13 weeks of gestation. Methods. Nuchal translucency was measured prospectively in fetuses at risk of homozygous α-thalassemia-1. Measurements of those fetuses subsequently confirmed to be affected by homozygous α-thalassemia-1 but with a normal Karyotype were compared to those of 440 controls. The controls were from the general obstetric population who had NT measurements at 12 or 13 weeks with known normal outcome. All the NT measurements were expressed as multiples of the median (MoM) for the gestational day. Results. Between 1996 and 1998, 94 at-risk pregnancies were studied. Of these, 32 were subsequently confirmed to be affected by homozygous α-thalassemia-1. Chromosome study was not carried out in three cases and these were excluded from the analysis. Nuchal translucency MoMs for cases and controls were found to fit a log Gaussian distribution. The log means (standard deviation) for case and control NT MoM were 0.075 (0.156) and -0.0019 (0.091), respectively. The median NT MoM (95% CI) for cases was 1.19 (1.08-1.62) and was significantly higher than that of the controls (p < 0.001). However, there was extensive overlap of NT between cases and controls. Conclusion. Overall, there was a 19% increase in NT MoM in fetuses affected by homozygous α-thalassemia-1. This represents a difference of only 0.3-0.4 mm, which is clinically insignificant. This finding indirectly suggests that the increased NT in trisomic fetuses cannot be explained by fetal anemia. Conversely, the presence of increased NT in a fetus at risk of homozygous α-thalassemia-1 should alert one to the possibility of chromosomal abnormality rather than being attributed to fetal anemia.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons Ltd. The Journal's web site is located at http://www.interscience.wiley.com/jpages/0960-7692/en_US
dc.relation.ispartofUltrasound in Obstetrics and Gynecologyen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshConfidence Intervalsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFetal Diseases - Diagnosisen_US
dc.subject.meshGestational Ageen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshNeck - Embryology - Ultrasonographyen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPregnancy Complications, Hematologic - Diagnosisen_US
dc.subject.meshPregnancy Outcomeen_US
dc.subject.meshPregnancy Trimester, Firsten_US
dc.subject.meshPregnancy, High-Risken_US
dc.subject.meshProbabilityen_US
dc.subject.meshProspective Studiesen_US
dc.subject.meshReference Valuesen_US
dc.subject.meshStatistics, Nonparametricen_US
dc.subject.meshUltrasonography, Prenatalen_US
dc.subject.meshAlpha-Thalassemia - Diagnosis - Embryologyen_US
dc.titleNuchal translucency in fetuses affected by homozygous α-thalassemia-1 at 12-13 weeks of 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.doi10.1046/j.1469-0705.1999.13040238.xen_US
dc.identifier.pmid10341400-
dc.identifier.scopuseid_2-s2.0-0032998839en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0032998839&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume13en_US
dc.identifier.issue4en_US
dc.identifier.spage238en_US
dc.identifier.epage240en_US
dc.identifier.isiWOS:000080327600004-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridLam, YH=7202563903en_US
dc.identifier.scopusauthoridTang, MHY=8943401300en_US
dc.identifier.scopusauthoridLee, CP=7410149538en_US
dc.identifier.scopusauthoridTse, HY=36772585300en_US

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