Abstract
Prenatal diagnosis literature expresses risk for complication of genetic amniocentesis as 1/200, 1/300, etc. The dysmorphology literature expresses incidence of major human malformations as 2-5%; Myrianthopoulos found this to be more on the order of 6.8% after following 65,000 children for 7. We have undertaken a chart review of all amniocenteses performed since opening a private medical genetics practice in suburban Chicago, IL. We have done over 3000. Reviewing the first 300, performed between 3/89 and 4/91, excluding pregnancies known to have had adverse outcomes, we sent letters to patients, followed by phone calls. Loss to follow-up was considerable given the lengthy time interval. We present here the results in 1) short-term complications of the procedure, 2) late pregnancy problems, 3) delivery problems, 4) neonatal difficulties, 5) malformations appreciated at delivery or 6) discovered later, 7) birth weight/length, 8) childhood illnesses, 9) follow-up weight/height, 10) school performance. We compare early (<15 weeks) to traditional (15+ weeks) procedures across all criteria. We discuss roles of operator experience and bias, and other issues pertinent to appropriate pre-amnio counseling practices.
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Lebel, R., Manno, M. Long-term follow-up of amniocentesis. Genet Med 2, 111 (2000). https://doi.org/10.1097/00125817-200001000-00220
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DOI: https://doi.org/10.1097/00125817-200001000-00220