A Study of Guideline for Genetic Counselling in Preimplantation Genetic Diagnosis (PGD)

Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a technique used to identify genetic defects in embryos created through in vitro fertilization before pregnancy. PGD is considered another way to prenatal diagnosis. PGD refers specifically to when one or both genetic parents has a known genetic abnormality and testing is performed on an embryo to see if it also carries a genetic abnormality. Its main advantage is that it avoids selective pregnancy termination as the method makes it highly likely that the baby will be free of the disease under consideration. The application of PGD to genetic practices and reproductive medicine, genetic counseling is becoming the key component, because of the need to develop the custom made design of PGD for each couple. In this study, the survey for the contents of genetic counseling in PGD was carried out by direct contact or e-mail sending to the patients and specialists who had been experienced the PGD during 3 months from February to April of 2010. Total 93 persons including the patients (60) who had chromosomal disorder (49) or single gene disorder (11) and PGD specialists (33) responded to the survey. Analysis of the survey revealed that all replies were well aware of the impotance of genetic counselling in the all steps of PGD including planing, operation, and follow-up. The patient group responded that the detailed 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, patients wanted to be counseled for the possibility of unexpected results and the recurrence risk (51.7%), and the reproduction options (46.7%). Approximately 96.7% of specialists replied that non-MD genetic counselor is necessary for effective and systematic genetic counselling in PGD because it is difficult for physicians to offer satisfying informs to patients due to insufficiency of counselling time and specific knowledge of the disorders. The information from the survey provides important insight into the overall present situation of genetic counselling fro PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counselling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in sucess of PGD. The establishment of the genetic counseling guideline for PGD may contribute to better planning and management strategies for PGD.

Author dc:creator

• 김, 민지

Contributors dc:contributor

• 김, 현주
• 정, 선용
• 대학원 의학과
• 200824652

• Preimplantation genetic diagnosis (PGD)
• genetic disease
• genetic counseling
• non-MD genetic counselor
• survey
• guideline
• 착상전 유전진단
• 유전질환
• 유전상담
• 전문유전상담사
• 설문조사
• 지침서

Language dc:language

ko

Identifier

http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000010899
000000010899

OAI identifier oai:identifier

oai:repository.ajou.ac.kr:201003/1702