A Study of Guidelines for Genetic Counseling in Preimplantation Genetic Diagnosis (PGD)

착상전 유전진단을 위한 유전상담 현황과 지침개발을 위한 기초 연구

  • Kim, Min-Jee (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University Collage of Medicine) ;
  • Lee, Hyoung-Song (Laboratory of Reproductive Biology and Infertility, Cheil General Hospital & Women's Healthcare Center, Kwandong University Collage of Medicine) ;
  • Kang, Inn-Soo (Department of Obstetrics and Gynecology, Cheil General Hospital & Women's Healthcare Center, Kwandong University Collage of Medicine) ;
  • Jeong, Seon-Yong (Department of Medical Genetics, Ajou University School of Medicine) ;
  • Kim, Hyon-J. (Department of Medical Genetics, Ajou University School of Medicine)
  • 김민지 (관동대학교 의과대학 제일병원 생식생물학 및 불임연구실) ;
  • 이형송 (관동대학교 의과대학 제일병원 생식생물학 및 불임연구실) ;
  • 강인수 (관동대학교 의과대학 제일병원 산부인과) ;
  • 정선용 (아주대학교 의과대학 의학유전학과) ;
  • 김현주 (아주대학교 의과대학 의학유전학과)
  • Received : 2010.12.03
  • Accepted : 2010.12.21
  • Published : 2010.12.01


Purpose: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a means of prenatal diagnosis of genetic abnormalities. PGD is used when one or both genetic parents has a known genetic abnormality; testing is performed on an embryo to determine if it also carries the genetic abnormality. The main advantage of PGD is the avoidance of selective pregnancy termination as it imparts a high likelihood that the baby will be free of the disease under consideration. The application of PGD to genetic practices, reproductive medicine, and genetic counseling is becoming the key component of fertility practice because of the need to develop a custom PGD design for each couple. Materials and Methods: In this study, a survey on the contents of genetic counseling in PGD was carried out via direct contact or e-mail with the patients and specialists who had experienced PGD during the three months from February to April 2010. Results: A total of 91 persons including 60 patients, 49 of whom had a chromosomal disorder and 11 of whom had a single gene disorder, and 31 PGD specialists responded to the survey. Analysis of the survey results revealed that all respondents were well aware of the importance of genetic counseling in all steps of PGD including planning, operation, and follow-up. The patient group responded that the possibility of unexpected results (51.7%), genetic risk assessment and recurrence risk (46.7%), the reproduction options (46.7%), the procedure and limitation of PGD (43.3%) and the information of PGD technology (35.0%) should be included as a genetic counseling information. In detail, 51.7% of patients wanted to be counseled for the possibility of unexpected results and the recurrence risk, while 46.7% wanted to know their reproduction options (46.7%). Approximately 96.7% of specialists replied that a non-M.D. genetic counselor is necessary for effective and systematic genetic counseling in PGD because it is difficult for physicians to offer satisfying information to patients due to lack of counseling time and specific knowledge of the disorders. Conclusions: The information from the survey provides important insight into the overall present situation of genetic counseling for PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counseling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in the success of PGD. The establishment of genetic counseling guidelines for PGD may contribute to better planning and management strategies for PGD.


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