Clin Exp Reprod Med.  2013 Dec;40(4):163-168. 10.5653/cerm.2013.40.4.163.

Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease

• Lee HS
• Kim MJ
• Ko DS
• Jeon EJ
• Kim JY
• Kang IS

• KMID: 2167494
• DOI: http://doi.org/10.5653/cerm.2013.40.4.163

Abstract

OBJECTIVE
Preimplantation genetic diagnosis (PGD) is an assisted reproductive technique for couples carrying genetic risks. Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, with a prevalence rate of 1/2,500. In this study, we report on our experience with PGD cycles performed for CMT types 1A and 2F.
METHODS
Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of multiplex fluorescent polymerase chain reaction (PCR) followed by fragment analysis or sequencing using single lymphocytes. We performed six cycles of PGD for CMT1A and one cycle for CMT2F.
RESULTS
Two duplex and two triplex protocols were developed according to the available markers for each CMT1A couple. Depending on the PCR protocols, the amplification rates and ADO rates ranged from 90.0% to 98.3% and 0.0% to 11.1%, respectively. For CMT2F, the amplification rates and ADO rates were 93.3% and 4.8%, respectively. In case of CMT1A, 60 out of 63 embryos (95.2%) were diagnosed and 13 out of 21 unaffected embryos were transferred in five cycles. Two pregnancies were achieved and three babies were delivered without any complications. In the case of CMT2F, a total of eight embryos were analyzed and diagnosed. Seven embryos were diagnosed as unaffected and four embryos were transferred, resulting in a twin pregnancy. Two healthy babies were delivered.
CONCLUSION
This is the first report of successful pregnancy and delivery after specific PGD for CMT disease in Korea. Our PGD procedure could provide healthy babies to couples with a high risk of transmitting genetic diseases.

Keyword

Charcot-Marie-Tooth disease; Preimplantation genetic diagnosis; Allele drop-out; Polymorphic marker

MeSH Terms

Alleles
Charcot-Marie-Tooth Disease*
Embryonic Structures
Family Characteristics
Korea
Lymphocytes
Polymerase Chain Reaction
Pregnancy
Pregnancy, Twin
Preimplantation Diagnosis*
Prevalence
Prostaglandins D
Reproductive Techniques, Assisted
Prostaglandins D