title: Pregnancy following oocyte donation in a woman with Noonan's syndrome and a balanced Robertsonian translocation a case report.
abstract: Successful pregnancy in Noonan's syndrome and balanced Robertsonian translocation women is extremely rare. This is because pregnancies in these women usually end in spontaneous miscarriage or termination before 24 weeks gestation due to severe congenital anomaly. In this article, we report the case of a 41-years-old woman with Noonan's syndrome and balanced Robertsonian translocation. She was delivered by an elective caesarean section at 38 weeks of a live male infant following a second attempt of in vitro fertilisation (IVF) and embryo transfer from donor oocytes. The use of donor eggs and IVF in these women means more of them will achieve successful term pregnancy as in this case. It is therefore important that Obstetricians understand this rare condition and optimise care. This case highlights some of the medical problems encountered by Obstetricians in managing patients in this high risk group.
authors.affiliation: St. Helier Hospital, Wrythe Lane, Carshalton, Surrey SM5 1AA, UK. engemisesam@doctors.org.uk
authors.forename: Samuel
authors.initials: S
authors.lastname: Engemise
authors.forename: Carolyn
authors.initials: C
authors.lastname: Croucher
mesh_terms: D000328:Adult; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics / Q000473:pathology*; D018587:Oocyte Donation; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics / Q000473:pathology*; D011256:Pregnancy Outcome; D011654:Pulmonary Edema / Q000628:therapy; D014178:Translocation, Genetic