Human maternal uniparental disomy for chromosome 16 and fetal development |
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| Authors: | Mrs Janet Vaughan Zehra Ali Sarah Bower Phillip Bennett Tim Chard Gudrun Moore |
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| Institution: | 1. The Centre for Fetal Care and The Action Research Laboratory for the Molecular Biology of Fetal Development, Royal Postgraduate Medical School, Institute of Obstetrics and Gynaecology, Queen Charlotte's and Chelsea Hospital, London W6 0XG, U.K.;2. Department of Reproductive Physiology and Obstetrics and Gynaecology, St Bartholomew's Hospital Medical College and the London Hospital Medical College, London EC1A 7BE, U.K. |
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| Abstract: | Two severely growth-retarded fetuses found to have maternal uniparental disomy (UPD) for chromosome 16 and trisomy 16 placental mosaicism both had an unfavourable outcome. Antenatally, the first case was complicated by an unexplained raised maternal serum alpha-fetoprotein concentration, preterm premature rupture of the membranes, and growth retardation detectable at 21 weeks' gestation, whilst the other had an unexplained raised maternal serum human chorionic gonadotrophin level, a two-vessel cord on ultrasound, and cessation of growth at 25 weeks. At post-mortem, both babies had an imperforate anus. Fetal maternal UPD may explain the poor outcome that occurs in some cases of confined placental mosaicism for chromosome 16 and is also associated with specific fetal abnormalities. |
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| Keywords: | Uniparental disomy confined placental mosaicism fetus growth retardation serum screening |
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