Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations.
Fertil Steril
; 94(6): 2001-11, 2011.e1-6, 2010 Nov.
Article
de En
| MEDLINE
| ID: mdl-20171625
ABSTRACT
OBJECTIVE:
To develop and assess a polymerase chain reaction (PCR)-based preimplantation genetic diagnosis (PGD) approach for detection of chromosomal imbalances in embryos.DESIGN:
A prospective study of embryos derived from chromosome translocation carriers that have undergone PGD using a novel molecular-based approach.SETTING:
A reference molecular genetics laboratory specialized in the provision of transport PGD services and a private IVF clinic. PATIENT(S) Twenty-seven couples carrying 12 different reciprocal translocations and 2 Robertsonian translocations. INTERVENTION(S) Preimplantation genetic diagnosis from chromosome translocation carriers on blastomeres biopsied from cleavage stage embryos. MAIN OUTCOME MEASURE(S) Embryo diagnosis rate, pregnancy rate (PR), implantation rate, take-home-baby rate. RESULT(S) Overall, 241/251 (96.0%) embryos were successfully diagnosed for chromosome rearrangements. Preimplantation genetic screening was included in the protocol of 12 couples, involving analysis of 90 embryos, 84 (93.3%) of which were successfully diagnosed and 53 (63.1%) showed aneuploidies. Embryos suitable for transfer were identified in 24 cycles. Eighteen couples achieved a clinical pregnancy (75.0% PR/embryo transfer), with a total of 31 embryos implanted (59.6% implantation rate). Ten patients (1 triplet, 1 twin, and 8 singleton pregnancies) have delivered 13 healthy babies, and the other patients (3 twins and 5 singletons) have currently ongoing pregnancies. CONCLUSION(S) The PCR-based PGD protocol for translocations has the potential to overcome several inherent limitations of fluorescence in situ hybridization-based tests, providing potential improvements in terms of test performance, automation, turnaround time, sensitivity, and reliability.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Translocation génétique
/
Blastocyste
/
Réaction de polymérisation en chaîne
/
Aberrations des chromosomes
/
Diagnostic préimplantatoire
Type d'étude:
Diagnostic_studies
/
Evaluation_studies
/
Guideline
/
Observational_studies
/
Prognostic_studies
Limites:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
/
Pregnancy
Langue:
En
Journal:
Fertil Steril
Année:
2010
Type de document:
Article
Pays d'affiliation:
Italie