Preimplantation genetic diagnosis for a couple with recurrent pregnancy loss and triploidy
UMass Chan Affiliations
Department of Obstetrics and GynecologyDocument Type
Journal ArticlePublication Date
2003-11-28Keywords
Abortion, HabitualAdult
Chromosome Aberrations
Diploidy
Female
Fertilization in Vitro
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Meiosis
Oocytes
*Ploidies
Pregnancy
Preimplantation Diagnosis
Sperm Injections, Intracytoplasmic
Spermatozoa
Obstetrics and Gynecology
Metadata
Show full item recordAbstract
BACKGROUND: Triploidy may arise from fertilization of a mature haploid egg by two haploid sperm or by failure of meiotic divisions yielding a diploid gamete. We encountered a couple with habitual abortion, in which the last two fetuses were documented as viable triploid. METHODS: To avoid dispermic penetration and development of abnormal preembryos, insemination was done by intracytoplasmic sperm injection (ICSI) followed by fluorescence in situ hybridization (FISH) of biopsied blastomeres. RESULTS: Tests of the husband's spermatozoa by FISH, revealed that only 2-3% of the sperm were disomic for chromosomes 16, 13, 21, X, and Y. No triple disomy was detected among chromosomes 16, 13 and 21, which makes it very unlikely that triploidy resulted from diploid spermatozoa. Following a controlled ovulation induction protocol, low quality oocytes with immature cumuli were revealed. After ICSI, five eggs became two pronuclei (2PN) zygotes and none of the other eggs developed a 3PN zygote. FISH was performed on chromosomes 16 and 21 in four preembryos developed to a 6-8 cell stage. Aneuploidy or mosaicism for each of these chromosomes was detected in one preembryo and later in two disaggregated blastocysts. FISH failed in one preembryo that became atretic after biopsy. CONCLUSIONS: Although this case was unsuccessful in achieving embryo transfer and normal pregnancy, we detected many abnormal morphological features in the oocytes and chromosomal abnormalities in the cleaving preembryos. This protocol can be proposed to patients with recurrent pregnancy loss associated with chromosomal abnormalities in the fetus.Source
Birth Defects Res A Clin Mol Teratol. 2003 Nov;67(11):946-50. Link to article on publisher's siteDOI
10.1002/bdra.10099Permanent Link to this Item
http://hdl.handle.net/20.500.14038/42820PubMed ID
14745933Related Resources
Link to Article in PubMedae974a485f413a2113503eed53cd6c53
10.1002/bdra.10099