Reciprocal translocation carriers in recurrent miscarriage parents may yield an unbalanced fetal chromosome pattern
Department of Obstetrics and Gynecology, Nagoya City University Medical School, Mizuho-ku, Nagoya 467, Japan
* Email: og.mym{at}med.nagoya-cu.ac.jp
Sir,
We read with interest the study by Goddijin et al. (2004)
on clinical relevance of structural chromosome abnormalities in couples with repeated miscarriage. The authors concluded that karyotyping of 1324 couples ascertained for repeated miscarriage did not yield an unbalanced fetal chromosome pattern after the ascertainment of parental carrier status. We disagree with the conclusion because reciprocal translocation cases do exist for recurrent miscarriages who give birth to offspring with unbalanced fetal chromosomes.
Our recent analysis showed that one of 34 offspring of successful pregnancies of reciprocal translocation carriers examined for recurrent miscarriage had an unbalanced translocation (Sugiura-Ogasawara et al., 2004). This 2.9% is not negligible and is equivalent to the frequency at which 43 year old women have a fetus with an abnormal chromosome karyotype ascertained by amniocentesis.
We have another patient with 46,XX, t(4;15)(q33; q26) who was found to be a carrier after examination for recurrent miscarriage in another hospital and who gave birth to two malformed children with 46,XX,-15,;der(15)t(4;15)(q33;q26)mat and 46,XX,der(4)t(4;15)(q33;q26)mat after three miscarriages. Our previous study did not include this case because the patient came to our hospital for preimplantation genetic diagnosis.
Midro et al. (1991) also reported 10 families with reciprocal translocations and one woman with 46,XX, t(6;13)(q27;q12) who had two malformed children with three spontaneous abortions. De Braekeleer and Dao, (1990) compared the distribution of the chromosomes involved in reciprocal translocations in couples experiencing recurrent miscarriages after birth of malformed children and put forward differences in the translocation breakpoints as an explanation for the outcomes.
In conclusion, the frequency with which reciprocal translocation carriers with a history of recurrent miscarriage give birth to a child with an unbalanced translocation is 2.9%, and couples with reciprocal translocations are at risk of an unbalanced fetal chromosome pattern. Thus, we should inform our patients of this risk and offer amniocentesis as a diagnostic aid.
References
De Braekeleer M and Dao T-N (1990) Cytogenetic studies in couples experiencing repeated pregnancy losses. Hum Reprod 5, 519–528.
Goddijin M, Joosten JHK, Knegt AC, van derVeen F, Franssen MTM, Bonsel GJ and Leschot NJ (2004) Clinical relevance of diagnosing structural chromosome abnormalities in couples with repeated miscarriage. Hum Reprod 19, 1013–1017.
Midro AT, Stengel-Rutkowski S and Stene J (1992) Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin Genet 41, 113–122.[Web of Science][Medline]
Sugiura-Ogasawara M, Ozaki Y, Sato T, Suzumori N and Suzumori K (2004) Poor prognosis of recurrent aborters with either maternal or paternal reciprocal translocations. Fertil Steril 81, 367–373.[CrossRef][Web of Science][Medline]
Submitted on May 28, 2004; accepted on June 7, 2004.
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