Clin Exp Reprod Med.  2014 Dec;41(4):168-173. 10.5653/cerm.2014.41.4.168.

A healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening in a woman with X-linked dominant incontinentia pigmenti

• Kim MJ
• Lyu SW
• Seok HH
• Park JE
• Shim SH
• Yoon TK

• KMID: 2049076
• DOI: http://doi.org/10.5653/cerm.2014.41.4.168

Abstract

The purpose of this study is to report a successful twin pregnancy and delivery in a female patient with X-linked dominant incontinentia pigmenti (IP) who underwent assisted reproductive technology followed by preimplantation genetic screening (PGS). A 29-year-old female with IP had a previous history of recurrent spontaneous abortion. A molecular analysis revealed the patient had a de novo mutation, 1308_1309insCCCCTTG(p.Ala438ProfsTer26), in the inhibitor of the kappa B kinase gamma gene located in the Xq28 region. IVF/ICSI and PGS was performed, in which male embryos were sexed using array-based comparative genomic hybridization (aCGH). After IVF/ICSI and PGS using aCGH on seven embryos, two euploid male blastocysts were transferred with a 50% probability of a viable male pregnancy. The dizygotic twin pregnancy was confirmed and the amniocentesis results of each twin were normal with regard to the mutation found in the mother. The patient delivered healthy twin babies during the 37th week of gestation. This case shows the beneficial role of PGS in achieving a successful pregnancy through euploid male embryo gender selection in a woman with X-linked dominant IP with a history of multiple male miscarriages.

Keyword

Assisted reproductive technology; Gene mutation; Preimplantation screening; Recurrent miscarriage; X chromosome

MeSH Terms

Abortion, Habitual
Abortion, Spontaneous
Adult
Amniocentesis
Blastocyst
Comparative Genomic Hybridization
Embryonic Structures
Female
Genetic Testing*
Humans
Incontinentia Pigmenti*
Male
Mothers
Phosphotransferases
Pregnancy
Pregnancy, Twin
Preimplantation Diagnosis
Reproduction*
Reproductive Techniques, Assisted
Twins, Dizygotic
X Chromosome
Phosphotransferases