Case report: unusually high rates of aneuploid embryos in a 28-year old woman with incontinentia pigmenti.
A young female carrier for incontinentia pigmenti underwent preimplantation genetic diagnosis to prevent the transfer of affected embryos. FISH diagnosis was performed using X, Y, 18 and 13/21 probes. Unexpectedly, 57% of the embryos were aneuploid for these chromosomes, a rate significantly higher (P < 0.005) than expected (9.3%). The patient achieved pregnancy but spontaneously aborted a trisomy 9 fetus.
Munné
S
S
Department of Obstetrics and Gynecology, New York Hospital-Cornell University Medical Center, NY, USA.
Alonso
M L
ML
Grifo
J
J
D000022:Abortion, Spontaneous / Q000235:genetics; D000782:Aneuploidy; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005307:Fertilization in Vitro; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007184:Incontinentia Pigmenti / Q000235:genetics*; D008297:Male; D008423:Maternal Age; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy