Postnatal follow‐up of prenatally diagnosed trisomy 16 mosaicism

Prenatal Diagnosis - Tập 26 Số 6 - Trang 548-558 - 2006
Sylvie Langlois1, Paul J. Yong2,3, Siu Li Yong1, Irene Barrett4, Dagmar K. Kalousek1,4, Peter Miny5, Rita Exeler6, Kathy Morris7, Wendy P. Robinson2,1
1Department of Medical Genetics, University of British Columbia, Canada
2Child & Family Research Institute, Vancouver, BC, Canada
3MD/PhD and Experimental Medicine Programs, University of British Columbia, Canada
4Department of Pathology, University of British Columbia, Canada
5Institute of Human Genetics, University of Basil, Switzerland
6Institute of Human Genetics, University of Muenster, Germany
7Department of Pediatrics, St. Louis University, MO, USA

Tóm tắt

AbstractObjectiveTo determine the long‐term outcome of pregnancies prenatally diagnosed with trisomy 16 and identify variables associated with the outcome.MethodsWe reviewed all published and our unpublished data from trisomy 16 pregnancies for which outcomes were available for children of greater than 1 year of age.ResultsNineteen cases were diagnosed with trisomy 16 on chorionic villus sampling (CVS) and 17 cases at amniocentesis. Age at last follow‐up ranges from 1 to13 years. Among the CVS group, four out of five patients, with a birth weight and/or length below −2 SD and postnatal growth information, showed catch‐up growth (80%). Among the amniotic fluid (AF) group, the birth weight was available in 13 cases. Eleven of the 13 cases had a birth weight less than −2 SD. In eight cases, the length was also below −2 SD (length data unavailable in one case). Nine out of ten cases (90%) and seven out of eight (87.5%) showed catch‐up growth for weight and length, respectively. In terms of development, no cases of CVS mosaicism had global developmental delay. One child had a history of delay in speech development. Among the AF‐detected cases, 4/17 cases had global developmental delay. All four children with global developmental delay had more than one major malformation compared to 6 out of 32 children in the group with normal development (p = 0.004). The finding of uniparental disomy (UPD) was not associated with developmental delay.ConclusionsThe majority of prenatally diagnosed trisomy 16 mosaic cases have a good postnatal outcome. However, the finding of mosaicism on AF and the presence of major congenital anomalies are associated with an increased risk of developmental delay. Copyright © 2006 John Wiley & Sons, Ltd.

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Prenatal Diagnosis

Tập 26 Số 6

548-558

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