Trisomy 16 detected at chorion villus sampling |
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| Authors: | A F Hashish N A Monk M P F Lovell-Smith L M Bardwell T M Fiddes R J M Gardner |
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| Institution: | Departments of Obstetrics and Gynaecology, Laboratory Services, Pathology, Radiology, and Paediatrics and Child Health, Dunedin Hospital and University of Otago, Dunedin, New Zealand |
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| Abstract: | Trisomy 16 detected at chorion villus sampling (CVS) may reflect the placental but not the fetal karyotype. We describe a case in which the pregnancy continued until intrauterine death at 37 weeks. Cytogenetic study of two placental samples showed 47, +16 and 46,XX; the fetus was morphologically grossly normal, but fetal tissue culture was unsuccessful. Conservative management may be appropriate when trisomy 16 is detected at CVS and the pregnancy is normal ultransonographically. |
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| Keywords: | Chorion villus sampling Trisomy 16 Confined chorion mosaicism |
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