Successful triplet pregnancy and delivery after oocyte donation in an infertile female with chromosome mosaicism for monosomy X, partial trisomy X, and terminal Xp deletion

Abstract

Objective To present successful triplet pregnancy and delivery after oocyte donation and IVF in a female with chromosome mosaicism for monosomy X, partial trisomy X, and terminal Xp deletion. Design Descriptive case study. Setting Large tertiary care hospital. Patient(s) A 23-year-old infertile woman with primary amenorrhea, short stature, and a mosaic karyotype of 45,X[10]/46,X,idic(X)(qter→p22.3::p22.3→qter)[40]. Fluorescence in situ hybridization investigation of the isodicentric X chromosome revealed terminal Xp deletion. Intervention(s) Ultrasound and laparoscopic examinations revealed streak ovaries and a hypoplastic uterus. Oocyte donation and IVF resulted in a triplet pregnancy without major maternal complications. Main outcome measure(s) Ultrasound and laparoscopy. Result(s) A cesarean section was performed at 32 weeks gestation because of preterm labor and malpresentation. Three babies were delivered with birth weights of 1,514 g, 1,686 g, and 1,968 g. All infants survived and were healthy at 3 years of age. Conclusion(s) With careful evaluation and counseling, assisted reproductive technology can be safely used in females with mosaic X chromosome abnormalities and gonadal dysgenesis.