PMID- 12454975
OWN - NLM
STAT- MEDLINE
DCOM- 20030520
LR  - 20220317
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 22
IP  - 12
DP  - 2002 Dec
TI  - Preimplantation genetic diagnosis using FISH for carriers of Robertsonian 
      translocations: the Portuguese experience.
PG  - 1153-62
AB  - Preimplantation genetic diagnosis (PGD) is an alternative to prenatal diagnosis 
      for couples at risk of transmitting genetic disorders to their offspring. We 
      present a fluorescence in situ hybridization (FISH) analysis of embryos obtained 
      after seven PGD cycles in six couples with Robertsonian translocations and male 
      factor infertility: 4 der(13;14), 1 der(14;21) and 1 der(15;21). Of 74 metaphase 
      II (MII) injected oocytes, 61 (82.4%) fertilized normally and cleaved. Of these, 
      37/61 (60.7%) embryos were of high morphological quality with >or=6 blastomeres. 
      After biopsy of 44 embryos at day 3 of development, seven degenerated, seven 
      arrested in development and 30/44 (68.2%) evolved, of which 25/30 (83.3%) reached 
      the morula/blastocyst stage. Analysis of biopsied blastomeres showed 23/44 
      (52.3%) of normal/balanced embryos, of which 15 (11 at the morula/blastocyst 
      stage) were transferred in six cycles. One term pregnancy was achieved, which 
      ended by cesarean section at 37 weeks of gestation, giving birth to two healthy 
      newborn. Analysis of 49 embryos (excluding 12 inconclusive cases) showed a 
      predominance of alternate segregation (38/49, 77.6%) over adjacent segregation 
      (7/49, 14.3%), with one (2%) being a polyploid mosaic and three (6.1%) chaotic.
CI  - Copyright 2002 John Wiley & Sons, Ltd.
FAU - Alves, Claudia
AU  - Alves C
AD  - Department of Genetics, Faculty of Medicine, University of Porto, Porto, 
      Portugal. calves@med.up.pt
FAU - Sousa, Mario
AU  - Sousa M
FAU - Silva, Joaquina
AU  - Silva J
FAU - Barros, Alberto
AU  - Barros A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Embryonic and Fetal Development/*genetics
MH  - Female
MH  - *Genetic Carrier Screening
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infertility, Male/genetics/therapy
MH  - Male
MH  - Portugal
MH  - Pregnancy
MH  - Preimplantation Diagnosis/*methods
MH  - Sperm Injections, Intracytoplasmic
MH  - Translocation, Genetic/*genetics
EDAT- 2002/11/28 04:00
MHDA- 2003/05/21 05:00
CRDT- 2002/11/28 04:00
PHST- 2002/11/28 04:00 [pubmed]
PHST- 2003/05/21 05:00 [medline]
PHST- 2002/11/28 04:00 [entrez]
AID - 10.1002/pd.503 [doi]
PST - ppublish
SO  - Prenat Diagn. 2002 Dec;22(12):1153-62. doi: 10.1002/pd.503.