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Limb reduction defects in fetuses with homozygous α‐thalassaemia‐1
Author(s) -
Lam Yung Hang,
Tang Mary Hoi Yin,
Sin Sai Yuen,
Ghosh Arabinda,
Lee Chin Peng
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199712)17:12<1143::aid-pd204>3.0.co;2-n
Subject(s) - fetus , reduction (mathematics) , medicine , hemoglobinopathy , lower limb , thalassemia , pediatrics , obstetrics , pregnancy , surgery , biology , genetics , hemolytic anemia , mathematics , geometry
Limb reduction defect is a rare event. Its exact pathogenesis is unknown. We retrospectively reviewed the outcome of 130 fetuses affected by homozygous α‐thalassaemia‐1 and found that 11 of them (8 per cent; 95 per cent confidence interval: 4–13 per cent) had terminal transverse limb reduction defects. Chromosome study was available in ten fetuses with limb defects and the results were normal. We postulate that the strong association between homozygous α‐thalassaemia‐1 and limb reduction is related to the hypoxic insult in early gestation. This may be the final common pathway in the pathogenesis of other forms of limb reduction defects. © 1997 John Wiley & Sons, Ltd.