Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue

• Published in: Prenatal diagnosis 1998-07, Vol.18 (7), p.659-668
• Main Authors: Los, Frans J., Van Opstal, Diane, Van Den Berg, Cardi, Braat, Armando P. G., Verhoef, Senno, Wesby-Van Swaay, Eveline, Van Den Ouweland, Ans M. W., Halley, Dicky J. J.
• Format: Article
• Language: English
• Subjects: Adult; Alleles; Aneuploidy; Biological and medical sciences; Chorionic Villi - ultrastructure; Chorionic Villi Sampling; Chromosomes, Human, Pair 16; confined placental mosaicism; Cytogenetics; DNA - analysis; Female; Genetic Markers; Gynecology. Andrology. Obstetrics; Humans; Infant, Newborn; Karyotyping; Male; Management. Prenatal diagnosis; Medical sciences; Mosaicism; Placenta; Pregnancy; Pregnancy. Fetus. Placenta; trisomic zygote rescue; Trisomy; uniparental disomy; Zygote
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/(SICI)1097-0223(199807)18:7<659::AID-PD317>3.0.CO;2-K

In the population of children born after prenatal cytogenetic investigation in chorionic villi at our department from 1992 to 1995 (N=3940), three are known to us with uniparental disomy. One case of maternal heterodisomy 16 was prenatally discovered because of trisomy 16 in direct chorionic villi with subsequently normal amniotic fluid cells. The other two had normal karyotypes in chorionic villi. Maternal heterodisomy 15 was postnatally detected in one of them because of Prader–Willi syndrome. Maternal hetero/isodisomy 16 was accidentally encountered in the other case in the course of prenatal DNA analysis of the tuberous sclerosis complex 2 region at 16p13.3. A model is presented for the understanding of the various combinations of karyotypes in direct chorionic villi, cultured chorionic villi and the fetus in the case of successful and unsuccessful trisomic zygote rescue. © 1998 John Wiley & Sons, Ltd.