PMID- 14745933
OWN - NLM
STAT- MEDLINE
DCOM- 20040712
LR  - 20061115
IS  - 1542-0752 (Print)
IS  - 1542-0752 (Linking)
VI  - 67
IP  - 11
DP  - 2003 Nov
TI  - Preimplantation genetic diagnosis for a couple with recurrent pregnancy loss and 
      triploidy.
PG  - 946-50
AB  - 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.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Bar-Ami, Shalom
AU  - Bar-Ami S
AD  - Faulkner Institute for Reproductive Medicine, Harvard Deaconess Surgical Service, 
      Harvard Medical School, Boston, Massachusetts, USA.
FAU - Seibel, Machelle M
AU  - Seibel MM
FAU - Pierce, Kenneth E
AU  - Pierce KE
FAU - Zilberstein, Moshe
AU  - Zilberstein M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Birth Defects Res A Clin Mol Teratol
JT  - Birth defects research. Part A, Clinical and molecular teratology
JID - 101155107
SB  - IM
MH  - Abortion, Habitual/*genetics
MH  - Adult
MH  - Chromosome Aberrations
MH  - Diploidy
MH  - Female
MH  - Fertilization in Vitro/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Meiosis
MH  - Oocytes/metabolism
MH  - *Ploidies
MH  - Pregnancy
MH  - Preimplantation Diagnosis
MH  - Sperm Injections, Intracytoplasmic/*methods
MH  - Spermatozoa/pathology/ultrastructure
EDAT- 2004/01/28 05:00
MHDA- 2004/07/13 05:00
CRDT- 2004/01/28 05:00
PHST- 2004/01/28 05:00 [pubmed]
PHST- 2004/07/13 05:00 [medline]
PHST- 2004/01/28 05:00 [entrez]
AID - 10.1002/bdra.10099 [doi]
PST - ppublish
SO  - Birth Defects Res A Clin Mol Teratol. 2003 Nov;67(11):946-50. doi: 
      10.1002/bdra.10099.