Couple's decision-making after birth of a child with an unbalanced chromosomal translocation

Article type: Research Article

Authors: Yamamoto, Toshiyuki^; | Nishikawa, Tomoko^; | Yamanaka, Michiko | Takada, Fumio | Kurosawa, Kenji

Affiliations: International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan | Department of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan | Department of Obstetrics and Gynecology, Kanagawa Children's Medical Center, Yokohama, Japan | Department of Medical Genetics, Kitasato University, Sagamihawa, Japan

Note: [] Correspondence: Dr. Toshiyuki Yamamoto, International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, 162-8666, Japan. Tel.: +81 3 3353 8111 ext 24067; Fax: +81 3 3352 3088; E-mail: yamamoto@imcir.twmu.ac.jp

Abstract: To obtain basic data for improving genetic counseling, we focused on couples' decision-making with regard to having additional children after notification of their status as a carrier of a reciprocal balanced chromosomal translocation. Carrier status is typically determined after birth of a child with a birth defect derived from a chromosomal unbalanced translocation inherited from the parents' balanced translocation. From April 2004 to December 2004, 15 couples from Kanagawa prefecture of Japan were interviewed. Children of the couples had unbalanced translocations, and one member of each couple was diagnosed or hypothesized to be a carrier of a reciprocal translocation. Clinical and familial information was obtained by personal interviews in our hospital, and then statistically analyzed. Fifteen couples were interviewed in which the mean age of propositi, fathers, and mothers were 4.7, 31.2, and 31.1 years, respectively. The couples were divided into two groups according to their decision-making process. Each couple that did not want more children already had at least one healthy child before the birth of the propositus. Each couple that did not disclose their own carrier status had a propositus younger than 2 years old. Each couple that had at least one healthy child before the birth of the propositus carrying an unbalanced translocation showed reluctance towards another pregnancy. On the other hand, each couple that did not have healthy children before the birth of the propositus showed strong willingness for a future pregnancy. Each couple that had a propositus younger than 2 years old needed more time to accept the evidence of their carrier status.

Keywords: Genetic counseling, birth defect, chromosomal examination, reciprocal balanced chromosomal translocation, decision-making

Journal: Journal of Pediatric Neurology, vol. 6, no. 3, pp. 203-208, 2008