title: Multiple pregnancy induction and selective fetal reduction in high genetic risk couples.
abstract: Couples at risk for an inherited disorder often have several pregnancy interruptions because of affected fetuses and difficulty in achieving their desired family. We evaluated the efficiency and acceptability of selective fetal reduction after chorionic villus sampling (CVS) of multiple pregnancy induced by ovarian stimulation and gamete intra-Fallopian transfer (GIFT). This approach has been offered to nine patients at risk of Mendelian diseases and one patient carrier of reciprocal translocation. The acceptance has been very high (90%). One patient at risk of an autosomic recessive disease opted for artificial donor insemination, one conceived spontaneously, and one was a poor responder to ovarian stimulation. Seven patients actually underwent a single GIFT procedure with six achieving pregnancy (86%), all but two being a multiple pregnancy (67%). All pregnancies concluded uneventfully at term and newborns were alive and healthy. Prenatal diagnosis, including fetal karyotyping in all cases, was performed at 8.5-11.5 weeks of gestation and confirmed either on amniotic fluid aspirated at reduction or at birth. The number of fetuses was reduced to one or two because the genetic disease was present and/or to reduce the risk of premature delivery and improve the likelihood of successful pregnancy. The new approach seems to be highly effective and might be considered a practical and useful alternative to preimplantation genetic diagnosis.
authors.affiliation: First Institute of Obstetrics and Gynaecology, University of Milan, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Brambati
authors.forename: L
authors.initials: L
authors.lastname: Formigli
authors.forename: M
authors.initials: M
authors.lastname: Mori
authors.forename: L
authors.initials: L
authors.lastname: Tului
mesh_terms: D000028:Abortion, Induced; D015193:Chorionic Villi Sampling; D005260:Female; D015181:Gamete Intrafallopian Transfer; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010062:Ovulation Induction; D011247:Pregnancy; D011272:Pregnancy, Multiple; D011296:Prenatal Diagnosis; D012307:Risk Factors