TY - JOUR
T1 - Paternal gonadal mosaicism detected in a couple with recurrent abortions undergoing PGD
T2 - FISH analysis of sperm nuclei proves valuable
AU - Somprasit, Charintip
AU - Aguinaga, Monica
AU - Cisneros, Pauline L.
AU - Torsky, Sergey
AU - Carson, Sandra A.
AU - Buster, John E.
AU - Amato, Paula
AU - McAdoo, Sallie Lou
AU - Simpson, Joe Leigh
AU - Bischoff, Farideh Z.
PY - 2004/8
Y1 - 2004/8
N2 - Many couples are now seeking preimplantation genetic diagnosis (PGD) and fluorescence in-situ hybridization (FISH) as an alternative approach to avoid spontaneous abortion by ensuring transfer of presumed chromosomally normal embryos. This case report describes unexpected findings in a couple having three spontaneous abortions and two failed IVF cycles. In two IVF PGD cycles, four of 13 (30.8%) embryos (blastomeres) demonstrated duplication involving the Down syndrome critical region, detectable by a locus specific chromosome 21 probe. The same duplication was subsequently detected by FISH in 66 of 1002 (6.6%) sperm nuclei, demonstrating paternal gonadal mosaicism. Cytogenetic studies of peripheral blood revealed normal karyotypes in both the male and female partners. This identification of paternal germ cell or gonadal mosaicism suggests that analysis of sperm nuclei prior to undergoing IVF with PGD may be of value in patients with recurrent spontaneous abortions or multiple failed IVF.
AB - Many couples are now seeking preimplantation genetic diagnosis (PGD) and fluorescence in-situ hybridization (FISH) as an alternative approach to avoid spontaneous abortion by ensuring transfer of presumed chromosomally normal embryos. This case report describes unexpected findings in a couple having three spontaneous abortions and two failed IVF cycles. In two IVF PGD cycles, four of 13 (30.8%) embryos (blastomeres) demonstrated duplication involving the Down syndrome critical region, detectable by a locus specific chromosome 21 probe. The same duplication was subsequently detected by FISH in 66 of 1002 (6.6%) sperm nuclei, demonstrating paternal gonadal mosaicism. Cytogenetic studies of peripheral blood revealed normal karyotypes in both the male and female partners. This identification of paternal germ cell or gonadal mosaicism suggests that analysis of sperm nuclei prior to undergoing IVF with PGD may be of value in patients with recurrent spontaneous abortions or multiple failed IVF.
KW - FISH
KW - Gonadal mosaicism
KW - PGD
KW - Recurrent spontaneous abortion
KW - Spermatozoa
UR - http://www.scopus.com/inward/record.url?scp=4344692091&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=4344692091&partnerID=8YFLogxK
U2 - 10.1016/S1472-6483(10)62134-7
DO - 10.1016/S1472-6483(10)62134-7
M3 - Article
C2 - 15333256
AN - SCOPUS:4344692091
SN - 1472-6483
VL - 9
SP - 225
EP - 230
JO - Reproductive BioMedicine Online
JF - Reproductive BioMedicine Online
IS - 2
ER -