Document Detail

Preimplantation genetic diagnosis for a couple with recurrent pregnancy loss and triploidy.
MedLine Citation:
PMID:  14745933     Owner:  NLM     Status:  MEDLINE    
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.
Shalom Bar-Ami; Machelle M Seibel; Kenneth E Pierce; Moshe Zilberstein
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Birth defects research. Part A, Clinical and molecular teratology     Volume:  67     ISSN:  1542-0752     ISO Abbreviation:  Birth Defects Res. Part A Clin. Mol. Teratol.     Publication Date:  2003 Nov 
Date Detail:
Created Date:  2004-01-27     Completed Date:  2004-07-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  101155107     Medline TA:  Birth Defects Res A Clin Mol Teratol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  946-50     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Faulkner Institute for Reproductive Medicine, Harvard Deaconess Surgical Service, Harvard Medical School, Boston, Massachusetts, USA.
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MeSH Terms
Abortion, Habitual / genetics*
Chromosome Aberrations
Fertilization in Vitro / methods
In Situ Hybridization, Fluorescence
Oocytes / metabolism
Preimplantation Diagnosis
Sperm Injections, Intracytoplasmic / methods*
Spermatozoa / pathology,  ultrastructure

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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