Korean J Obstet Gynecol.  2000 Jul;43(7):1147-1153.

Clinical application of preimplantation genetic diagnosis (PGD) using fluorescence in-situ hybridization to balanced reciprocal or Robertsonian translocation carriers in human IVF-ET program

• Jun JH
• Song GJ
• Kim JW
• Park SY
• Kim KH
• Choi BC
• Koong MK
• Kang IS
• Lim CK
• Han MH

Abstract

OBJECTIVE
This study was performed to evaluate the efficiency of preimplantation genetic diagnosis (PGD) using fluorescence in-situ hybridization (FISH) in Robertsonian or balanced reciprocal translocation carriers in human IVF-ET programm. METHOD: FISH was carried out in 25 cycles of 15 couples. Two-color FISH analysis was performed on 54 polar bodies in 3 cycles and 234 blastomeres in 22 cycles. After FISH analysis, the embryos with normal FISH signals were transferred into mother's uterus.
RESULTS
In FISH analysis of polar bodies, 18 nuclei of polar bodies were normal and 12 embryos were transferred in 3 cycles. FISH efficiency per oocyte was 95.0% in cases using polar bodies. In FISH analysis of blastomeres, 49 embryos were normal and transferred in 21 cycles. FISH efficiency per embryo was 92.7% using blastomeres. At present, three pregnancies were achieved. A girl and a boy were delivered. Both of them were translocation carriers. The other conceptus showed normal karyotype.
CONCLUSIONS
According to this study, PGD using FISH can be successfully applied for the patients with translocations of chromosomes.

Keyword

Preimplantation genetic diagnosis (PGD); Fluorescence in-situ hybridization (FISH); Balanced reciprocal translocation; Robertsonian translocation; IVF-ET; Robertsonian

MeSH Terms

Blastomeres
Embryonic Structures
Family Characteristics
Female
Fluorescence*
Humans*
Karyotype
Male
Oocytes
Polar Bodies
Pregnancy
Preimplantation Diagnosis*
Prostaglandins D
Uterus
Prostaglandins D