Obstet Gynecol Sci.  2014 May;57(3):244-247. 10.5468/ogs.2014.57.3.244.

The first successful live birth following preimplantation genetic diagnosis using PCR for type 1 citrullinemia

• Cho JH
• Kim CH
• Lee KH
• Jeon IK
• Kim JM
• Kang BM

• KMID: 1704434
• DOI: http://doi.org/10.5468/ogs.2014.57.3.244

Abstract

Type 1 citrullinemia (CTLN1) is an autosomal recessive inherited metabolic disorder caused by anargininosuccinicnate synthetase deficiency. The patient was a 38-year-old Korean woman who is a carrier for CTLN1 and her first baby was diagnosed with CTLN1. Preimplantation genetic diagnosis (PGD) for CTLN1 in day 3 embryos using polymerase chain reaction was performed for live birth of healthy baby who is no affected with CTLN1. One unaffected blastocyst was transferred. This resulted in a clinical pregnancy and the live birth of healthy male twin. They were confirmed to be unaffected with CTNL1 by post natal diagnosis. This is the first case report of the use of PGD for CTNL1.

Keyword

Citrullinemia; Preimplantation diagnosis

MeSH Terms

Adult
Blastocyst
Citrullinemia*
Diagnosis
Embryonic Structures
Female
Humans
Ligases
Live Birth*
Male
Polymerase Chain Reaction*
Pregnancy
Preimplantation Diagnosis*
Prostaglandins D
Twins
Ligases
Prostaglandins D

Figure

• 

  Fig. 1 The sequence of the mutation c.421-2A>G of ASS1 gene and the result of short tandem repeat (STR) microsatellite marker test of 9q34 (D9S195). The mutation site of the electrogram is indicated with red arrows. (A,B) Parents have heterozygote c.421-1A>G. (C) The proband has homozygote c.421-2A>G mutation of the first baby. (D) The preimplantation genetic diagnosis (PGD) blastomere shows normal sequence at c.421-2G site. The peak of capillary electrophoresis for STR marker is shown 306 bp in father and 314, 322 bp in mother respectively. The blastomere shows both 306 bp of father allele and 314 bp of mother allele, which rule out the allele drop phenomenon in the PGD process.

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