First pregnancies after preconception diagnosis of translocations of maternal origin.
OBJECTIVE
To develop an approach to preimplantation diagnosis of translocations that would not require the use of specific DNA probes for each translocation type.


METHODS
Retrospective analysis.


METHODS
Clinic.


METHODS
Two patients with 45XX,der(13;14)(q10;q10) karyotypes and one patient with a 46XX,t(4;14)(p15;q24) karyotype.


METHODS
Based on the observation that first polar body chromosomes remain at the metaphase stage for a few hours after oocyte retrieval, fluorescence in situ hybridization with chromosome-painting probes was used to perform preconception genetic diagnosis of translocation of maternal origin.


METHODS
Oocyte FISH analysis.


RESULTS
A total of 31 mature oocytes were produced, and results were obtained in 23 first polar bodies. After IVF-ET, all three patients became pregnant, preconception diagnoses being confirmed by prenatal diagnosis or birth.


CONCLUSIONS
Preconception diagnosis of translocations may reduce significantly the risk of chromosomally unbalanced offspring and pregnancy loss. This method is simpler than previous approaches because the need to develop specific DNA probes for each translocation type is avoided.
Munné
S
S
The Institute for Reproductive Medicine and Science, Saint Barnabas Medical Center, Livingston, New Jersey, USA. MUNNE@USA.PIPELINE.COM
Scott
R
R
Sable
D
D
Cohen
J
J
D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D025063:Chromosome Disorders; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008677:Metaphase; D009865:Oocytes / Q000648:ultrastructure*; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000379:methods*; D011296:Prenatal Diagnosis / Q000379:methods; D012189:Retrospective Studies; D008941:Spindle Apparatus / Q000648:ultrastructure*; D013997:Time Factors; D014178:Translocation, Genetic / Q000235:genetics*