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Recent Trends in Preimplantation Genetic Diagnosis (PGD)

Kim JY, Kang IS

  • KMID: 2272722
  • Korean J Obstet Gynecol.
  • 2005 Nov;48(11):2493-2509.
Preimplantation genetic diagnosis (PGD) provides practical option to prevent the termination of pregnancy and miscarriage in couples with high risk of genetic disease or recurrent spontaneous abortion. In balanced chromosomal...
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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

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...
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A Case of Successful Pregnancy in Patient with Recurrent Spontaneous Abortion by Preimplantation Genetic Diagnosis Following IVF-ET

Jeong JS, Yeon GS, Chae HD, Cheon YP, Kim CH, Kang BM, Chang YS, Mok JE

  • KMID: 2304573
  • Korean J Fertil Steril.
  • 1998 Aug;25(2):135-140.
It was reported that the etiologies of recurrent spontaneous abortion are immunologic factors, endocrinologic problems, anatomical abnormalities, genetic abnormalities, infection, and unexplained factors. Among those etiologic factors, genetic abnormalities occur...
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The Ethical and Legal Considerations on Preimplantation Genetic Diagnosis and Prenatal Diagnosis

Kim JH

  • KMID: 2272988
  • Korean J Obstet Gynecol.
  • 2006 Dec;49(12):2497-2505.
OBJECTIVE: After 'Bioethics & biosafety act' has been enacted since 2005, Preimplantation genetic diagnosis (PGD) for embryo and Prenatal diagnosis (PD) for fetus are regulated by this law. This article...
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Clinical application of preimplantation genetic diagnosis (PGD) using fluorescence in-situ hybridization to balanced reciprocal or Robertsonian translocation carriers in human IVF-ET program

Jun JH, Song GJ, Kim JW, Park SY, Kim KH, Choi BC, Koong MK, Kang IS, Lim CK, Han MH

  • KMID: 2262031
  • Korean J Obstet Gynecol.
  • 2000 Jul;43(7):1147-1153.
OBJECTIVE: This study was performed to evaluate the efficiency of preimplantation genetic diagnosis (PGD) using fluorescence in-situ hybridization (FISH) in Robertsonian or balanced reciprocal translocation carriers in human IVF-ET programm. METHOD: FISH...
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Preimplantation Genetic Diagnosis for Single Gene Disorders

Lee HS, Kim MJ, Kang IS

  • KMID: 1473817
  • J Genet Med.
  • 2009 Dec;6(2):131-145.
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...
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Application of Hot Start PCR Method in PCR-based Preimplantation Genetic Diagnosis

Kim SA, Kang MJ, Kim HS, Oh SK, Ku SY, Choi YM, Jun JK, Moon SY

PURPOSE: To determine a method to improve the efficacy and accuracy of preimplantation genetic diagnosis (PGD) - polymerase chain reaction (PCR), we compared hot start PCR and conventional multiplex nested...
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Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea

Ko DS, Lee SH, Park CW, Lim CK

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive...
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Preimplantation genetic diagnosis

Kim JY, Lee HS, Kang IS

Preimplantation genetic diagnosis (PGD) is a technique to examine genetic disease or chromosome abnormalities in single cell biopsied from embryos before implantation to uterus. It allows achieving normal pregnancy by...
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Outcomes of preimplantation genetic diagnosis using either zona drilling with acidified Tyrode's solution or partial zona dissection

Kim HJ, Kim CH, Lee SM, Choe SA, Lee JY, Jee BC, Hwang D, Kim KC

OBJECTIVE: To review the outcomes of preimplantation genetic diagnosis (PGD) using zona drilling with acid Tyrode's solution (chemical zona pellucida drilling, chemical ZD) and those of partial zona dissection (PZD). METHODS:...
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Does blastomere biopsy in preimplantation genetic diagnosis affect early serum beta-hCG levels?

Cho YJ, Kim JY, Song IO, Lee HS, Lim CK, Koong MK, Kang IS

OBJECTIVE: To determine whether the serum beta-human chorionic gonadotropin (hCG) profile following preimplantation genetic diagnosis (PGD) is lower than that of intracytoplasmic sperm injection (ICSI) cycles. METHODS: A total of 129...
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Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease

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

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....
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Detection of Y Mosaicism in Blood and Gonad of Patients with Gonadal Dysgenesis

Kim JY, Lee SJ, Park KH, Kim JY, Bai SW, Lee BS, Kim SK, Kim IK, Cho DJ, Song CH, Kim JW, Lee HJ

  • KMID: 1891294
  • Korean J Fertil Steril.
  • 1999 Dec;26(3):457-466.
OBJECTIVE: The presence of Y Chromosome in patients with gonadal dysgenesis is related to the risk of gonadoblastoma. Since the patients with abnormal sexual differentiation may have cryptic Y mosaicism,...
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Age or Basal Serum FSH Levels; Which One is Better for Prediction of IVF Outcomes in Patients with Decreased Ovarian Reserve?

Yu Y, Kim MJ, Cho YJ, Yeon MJ, Ahn YS, Cha SH, Kim HO, Park CW, Kim JY, Song IO, Koong MK, Kang IS, Jun JY, Yang KM

  • KMID: 1986939
  • Korean J Reprod Med.
  • 2007 Sep;34(3):189-196.
OBJECTIVES: The purpose of this study is to investigate the clinical significance of age and basal serum FSH in predicting the outcomes of in vitro fertilization (IVF) in patients with...
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Pre-implantation genetic diagnosis and pre-implantation genetic screening: two years experience at a single center

Won SY, Kim H, Lee WS, Kim JW, Shim SH

OBJECTIVE: Indications for preimplantation genetic diagnosis (PGD)/preimplantation genetic screening (PGS) cycles and clinical outcomes were evaluated at CHA Gangnam Medical Center. METHODS: This is retrospective cohort study. All patients (n=336) who...
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Optimized Methods of Preimplantation Genetic Diagnosis for Trinucleotide Repeat Diseases of Huntington's Disease, Spinocerebellar Ataxia 3 and Fragile X Syndrome

Kim MJ, Lee HS, Lim CK, Cho JW, Kim JY, Koong MK, Song IO, Kang IS, Jun JH

  • KMID: 1986938
  • Korean J Reprod Med.
  • 2007 Sep;34(3):179-188.
OBJECTIVES: Many neurological diseases are known to be caused by expansion of trinucleotide repeats (TNRs). It is hard to diagnose the alteration of TNRs with single cell level for preimplantation...
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Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)

Park KE, Kim SA, Kang MJ, Kim HS, Cho SI, Yoo KW, Kim SY, Lee HJ, Oh SK, Seong MW, Ku SY, Jun JK, Park SS, Choi YM, Moon SY

Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a...
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Developmental competence and Effects of Coculture after Crypreservation of Blastomere-Biopsied Mouse Embryos as a Preclinical Model for Preimplantation Genetic Diagnosis

Kim JG, Lee JY, Kim SH, Jee BC, Suh CS, Choi YM, Moon SY

  • KMID: 2235713
  • Korean J Fertil Steril.
  • 2000 Mar;27(1):47-58.
OBJECTIVE: The effects of cryopreservation with or without coculture on the in vitro development of blastomere-biopsied 8-cell mouse embryos were investigated. This experimental study was originally designed for the setup...
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Improvement of Pregnancy Rate in Preimplantation Genetic Diagnosis with FISH Procedure by the Laboratory Optimization and Experiences

Lim CK, Min DM, Lee HS, Byun HK, Park SY, Ryu HM, Kim JY, Koong MK, Kang IS, Jun JH

  • KMID: 1891198
  • Korean J Fertil Steril.
  • 2004 Mar;31(1):29-39.
OBJECTIVES: This study was performed to evaluate the laboratory system for successful PGD using fluorescence in situ hybridization (FISH) and the clinical outcome of PGD cycles in five years experiences. METHODS:...
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Efficacy of Duplex-nested PCR and Fluorescent PCR in the Preimplantation Genetic Diagnosis for Duchenne Muscular Dystrophy

Lee HS, Choi HW, Lim CK, Park SY, Kim JY, Koong MK, Jun JH, Kang IS

  • KMID: 1772283
  • Korean J Fertil Steril.
  • 2005 Mar;32(1):17-26.
OBJECTIVE: Preimplantation genetic diagnosis (PGD) is reserved for couples with a risk of transmitting a serious and incurable disease, and hence avoids the undesirable therapeutic abortion. In this study, we...
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