Preimplantation genetic diagnosis.
10.5124/jkma.2015.58.11.979
- Author:
Jin Young KIM
1
;
Hyoung Song LEE
;
Inn Soo KANG
Author Information
1. Department of Obstetrics and Gynecology of Fertility Center, CHA University, Seoul, Korea. ikang67pgd@gmail.com
- Publication Type:Original Article
- Keywords:
Preimplantation diagnosis;
Genetic disorder;
Polymerase chain reaction;
Comparative genomic hybridization;
Next generation sequencing
- MeSH:
Abortion, Habitual;
Abortion, Spontaneous;
Aneuploidy;
Chromosome Aberrations;
Comparative Genomic Hybridization;
Diagnosis;
Embryonic Structures;
Family Characteristics;
Female;
Genetic Predisposition to Disease;
Genome;
Humans;
In Situ Hybridization, Fluorescence;
Leukocytes;
Mass Screening;
Maternal Age;
Multiplex Polymerase Chain Reaction;
Pathology, Molecular;
Polymerase Chain Reaction;
Pregnancy;
Preimplantation Diagnosis*;
Prostaglandins D;
Reproduction;
Stem Cell Transplantation;
Uterus
- From:Journal of the Korean Medical Association
2015;58(11):979-988
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Preimplantation genetic diagnosis (PGD) is a technique to examine genetic disease or chromosome abnormalities in single cell biopsied from embryos before implantation to uterus. It allows achieving normal pregnancy by transfer of unaffected embryos. The main indications are single gene disorders and recurrent miscarriage related to chromosome aberration and it has advantages to avoid termination of pregnancy or miscarriages in couples with high risk. PGD is also widely applied for aneuploidy screening in assisted reproduction to improve the outcome in infertile patients such as advanced maternal age, although its efficacy still needs to be established. Furthermore, the application of PGD has expanded to other indications, such as late onset-diseases with genetic predisposition and human leukocyte antigen typing for stem cell transplantation. With the advances of molecular diagnostic technologies using single cells, such as fluorescent in situ hybridization, multiplex polymerase chain reaction, fluorescent polymerase chain reaction, linkage analysis, whole genome amplification, array comparative genomic hybridization (array comparative genomic hybridization), and next generation sequencing, PGD can provide more comprehensive and reliable diagnosis.
