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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 - Clin Exp Reprod Med (2014)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University College of Medicine, Seoul, Korea.

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.

No MeSH data available.


Related in: MedlinePlus

Array-based comparative genomic hybridization results of the seven embryos.
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Figure 2: Array-based comparative genomic hybridization results of the seven embryos.

Mentions: A total of nine oocytes were retrieved after controlled ovarian hyperstimulation with gonadotrophin-releasing hormone antagonist protocol (cetrorelix, Cetrotide, Merck Serono Europe Ltd., London, UK; 0.25 mg) using recombinant follicle-stimulating hormone (recombinant follitropin alfa; GONAL-f, Merck Serono S.p.A, Modugno, Italy, 225 IU daily), of which seven were fertilized using the intracytoplasmic sperm injection procedure. In each of the seven eight-cell stage embryos, a single blastomere was biopsied on day three and subjected to aCGH analysis by a commercial laboratory (MGMED Co., Seoul, Korea). The laboratory reported that there were two euploid male embryos, one euploid female embryo, and four aneuploid male embryos (-16, -8/+15, +20, +2/+3/+6/+11/-20) (Figure 2). Both of the euploid male embryos, which were grade two mid-blastocysts, were transferred on day five. After 12 days, serum beta human chorionic gonadotropin was 442.17 mIU/mL, increasing to 4,676 mIU/mL six days later. A clinical pregnancy was confirmed with two gestational sacs and twin fetuses showing viable heartbeats by ultrasonography at the sixth week of gestation. The patient underwent amniocentesis for a confirmatory prenatal diagnosis during the seventeenth week of pregnancy and both fetuses showed normal male karyotypes. They were shown to be normal for the mutation found in the mother through polymerase chain reaction-direct sequencing of the cultured amniocytes. This patient delivered healthy live twin babies during the 37th week of gestation with no obstetric or neonatal complications.


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 - Clin Exp Reprod Med (2014)

Array-based comparative genomic hybridization results of the seven embryos.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4295944&req=5

Figure 2: Array-based comparative genomic hybridization results of the seven embryos.
Mentions: A total of nine oocytes were retrieved after controlled ovarian hyperstimulation with gonadotrophin-releasing hormone antagonist protocol (cetrorelix, Cetrotide, Merck Serono Europe Ltd., London, UK; 0.25 mg) using recombinant follicle-stimulating hormone (recombinant follitropin alfa; GONAL-f, Merck Serono S.p.A, Modugno, Italy, 225 IU daily), of which seven were fertilized using the intracytoplasmic sperm injection procedure. In each of the seven eight-cell stage embryos, a single blastomere was biopsied on day three and subjected to aCGH analysis by a commercial laboratory (MGMED Co., Seoul, Korea). The laboratory reported that there were two euploid male embryos, one euploid female embryo, and four aneuploid male embryos (-16, -8/+15, +20, +2/+3/+6/+11/-20) (Figure 2). Both of the euploid male embryos, which were grade two mid-blastocysts, were transferred on day five. After 12 days, serum beta human chorionic gonadotropin was 442.17 mIU/mL, increasing to 4,676 mIU/mL six days later. A clinical pregnancy was confirmed with two gestational sacs and twin fetuses showing viable heartbeats by ultrasonography at the sixth week of gestation. The patient underwent amniocentesis for a confirmatory prenatal diagnosis during the seventeenth week of pregnancy and both fetuses showed normal male karyotypes. They were shown to be normal for the mutation found in the mother through polymerase chain reaction-direct sequencing of the cultured amniocytes. This patient delivered healthy live twin babies during the 37th week of gestation with no obstetric or neonatal complications.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University College of Medicine, Seoul, Korea.

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.

No MeSH data available.


Related in: MedlinePlus