Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)
- Volume 5 Issue 1
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- Pages.94-107
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- 2005
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- 2287-4712(pISSN)
Preimplantation Genetic Diagnosis in Inborn Error Metabolic Disorders
유전성 대사질환의 착상전 유전진단
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Kang, Inn Soo
(Department of Obstetrics and Gynecology, Samsung Cheil Hospital, Sungkyunkwan University School of Medicine)
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강인수
(성균관대학교 의과대학 삼성제일병원 산부인과)
- Published : 2005.07.02
Abstract
Prenatal diagnosis (PND) such as amniocentesis or chorionic villi sampling has been widely used in order to prevent the birth of babies with defects especially in families with single gene disorderor chromosomal abnormalities. Preimplantation genetic diagnosis (PGD) has already become an alternative to traditional PND. Indications for PGD have expanded beyond those practices in PND (chromosomal abnormalities, single gene defects), such as late-onset diseases with genetic predisposition, and HLA typing for stem cell transplantation to affected sibling. After in vitro fertilization, the biopsied blastomere from the embryo is analyzed for single gene defect or chromosomal abnormality. The unaffected embryos are selected for transfer to the uterine cavity. Therefore, PGD has an advantage over PND as it can avoid the risk of pregnancy termination. In this review, PGD will be introduced and application of PGD in inborn error metabolic disorder will be discussed.