J Genet Med.  2009 Dec;6(2):131-145.

Preimplantation Genetic Diagnosis for Single Gene Disorders

• Lee HS
• Kim MJ
• Kang IS

Abstract

Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples who are at risk that enables them to have unaffected baby without facing the risk of pregnancy termination after invasive prenatal diagnosis. The molecular biology and technology for single-cell genetics has reached an extremely high level of accuracy, and has enabled the possibility of performing multiple diagnoses on one cell using whole genome amplification. These technological advances have contributed to the avoidance of misdiagnosis in PGD for single gene disorders. Polymerase chain reaction (PCR)-based PGD will lead to a significant increase in the number of disorders diagnosed and will find more widespread use, benefiting many more couples who are at risk of transmitting an inherited disease to their baby. In this review, we will focus on the molecular biological techniques that are currently in use in the most advanced centers for PGD for single gene disorders, including biopsy procedure, multiplex PCR and post-PCR diagnostic methods, and multiple displacement amplification (MDA) and the problems in the single cell genetic analysis.

Keyword

Preimplantation genetic diagnosis (PGD); Single gene disorder; Polymerase chain reaction (PCR); Biopsy; Allele drop-out (ADO)

MeSH Terms

Biopsy
Diagnostic Errors
Displacement (Psychology)
Family Characteristics
Genome
Molecular Biology
Multiplex Polymerase Chain Reaction
Polymerase Chain Reaction
Pregnancy
Preimplantation Diagnosis
Prenatal Diagnosis
Prostaglandins D
Reproductive Techniques, Assisted
Prostaglandins D