Cytogenetic investigation of fetuses and infants conceived through intracytoplasmic sperm injection

Objective: To determine the incidence of aneuploidy among fetuses and infan ts conceived through intracytoplasmic sperm injection (ICSI) in our clinic using umbilical cord blood samples. Design: Follow-up study of the cytogenetic outcome of ICSI pregnancies. Setting: University-based IVF clinic. Patient(s): Forty-six couples who underwent ICSI and conceived. Intervention(s): Umbilical cord blood was taken after delivery of the infan t for analysis. Samples of chorionic villi and chorion were taken for studi es on the spontaneous abortuses. Amniocentesis was performed for couples th at chose prenatal diagnosis. Main Outcome Measure(s): The cytogenetic chromosomal status of the pregnanc y outcome. Result(s): Fifty pregnancies and 55 live births were recorded, with nine sp ontaneous abortions. Of 43 separate umbilical cord blood samples analyzed, I abnormality (2%) was found, 45, XX, +21. Nine births went through prenata l diagnosis alone. with four accepting both forms of analysis-no abnormalit ies were found. Origin of abnormality was established in two spontaneous ab ortion cases (45, XO and 45, XY,-21). and the maternal chromosome was lost in both cases. Conclusion(s): Using umbilical cord blood obtained after birth, we obtained karyotype results from 78% of the ICSI population in our clinic. Combined with results from five additional cases that underwent prenatal diagnosis b ut not umbilical cord blood sampling, a chromosomal result was obtained in 87% of our ICSI population. The use of umbilical cord blood for cytogenetic analysis substantially improves the ability to determine rates of chromoso mal abnormalities in newborns produced via ICSI clinics. (C) 2001 by Americ an Society for Reproductive Medicine.