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 will discuss the problem and revision of that law. METHODS: From the medical point of view, we consider the developmental stages of human embryo, genetic disease and PGD. According to the documentary records, we discuss the PGD allowance of European countries and USA and requisites for that allowance. We also discuss the PD in association with the 'Motherhood act' and a related judicial decision. RESULTS: On PGD, the attitude of quality of European countries is in the nature of variable spectrum and USA doesn't have explicit federal regulations. PGD permission is based on the individual institution and the genetic disease. The genetic conditions for legitimate abortion of 'Motherhood act are not included in Bioethics & biosafety act'. So The purpose and criteria of PD is now in a state of confusion. CONCLUSION: PGD should be regulated within the title of embryo in 'Bioethics & biosafety act' not within the title of genetic test. Each PGD should be permitted individually on the basis of each institution and genetic disease and then the criteria could be more broadened. The provision for PD should include the legitimate abortion conditions of 'Motherhood act'. To diagnose the sex linked genetic disease, the punishment for sex detection should be excepted to the 'Medicine act'.
Bioethics ; Embryonic Structures ; Fetus ; Humans ; Jurisprudence ; Preimplantation Diagnosis* ; Prenatal Diagnosis* ; Prostaglandins D ; Punishment ; Social Control, Formal

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: Clinical outcomes of seventy-one couples undergoing 85 PGD cycles from January 2005 to December 2010 were included. Blastocyst formation and the hatching rate, clinical pregnancy rate, ongoing pregnancy rate, implantation rate, and fetal gender ratio of the PZD and chemical ZD groups were compared. RESULTS: Application of PZD resulted in a significantly higher rate of clinical pregnancy (40.7% vs. 15.4%, p=0.022), ongoing pregnancy (35.6% vs. 11.5%, p=0.023), and implantation (18.1% vs. 5.7%, p=0.007) compared with chemical ZD. Among non-transferred embryos, the rate of blastocyst formation on day 5 (49.1% vs. 39.5%, p=0.016) and hatching on day 6 (47.2% vs. 26.5%, p<0.001) were also significantly higher in the PZD group. CONCLUSION: The mechanical zona dissection method showed better outcomes than chemical ZD in terms of the blastocyst development and pregnancy rate. In this study, the fact that chemical ZD was conducted in different period from mechanical method should be considered in interpreting the result.
Blastocyst ; Embryonic Structures ; Family Characteristics ; Herpes Zoster ; Isotonic Solutions ; Mandrillus ; Pregnancy ; Pregnancy Rate ; Preimplantation Diagnosis ; Prostaglandins D ; Zona Pellucida

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 PCR. MATERIALS AND METHODS: This study was performed with single lymphocyte isolated from whole blood samples that were obtained from two couples with osteogenesis imperfecta (OI). We proceeded with conventional multiplex nested PCR and hot start PCR in which essential reaction components were physically removed, and we compared the amplification rate, allele dropout rate and nonspecific products. Afterward, we used selective method for PGD. RESULTS: In the two couples, the respective amplification rate were 93.5% and 80.0% using conventional multiplex nested PCR and 95.5% and 92.0% using hot start PCR. The respective mean allele dropout rates for the two couples were 42.0% and 14.0% with conventional multiplex nested PCR and 36.0% and 6.0% with hot start PCR. CONCLUSION: The results demonstrate that the hot start PCR procedure provides higher amplification rates and lower allele dropout rate than the conventional method and that it decreased the nonspecific band in multiplex nested PCR. The hot start method is more efficient for analyzing a single blastomere in clinical PGD.
Alleles ; Blastomeres ; Family Characteristics ; Humans ; Lymphocytes ; Osteogenesis Imperfecta ; Patient Dropouts ; Polymerase Chain Reaction ; Preimplantation Diagnosis ; Prostaglandins D

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 PGD cycles and 1,161 age-matched ICSI cycles, which resulted in pregnancy (serum beta-hCG> or =5 mIU/mL) on post-ovulation day (POD) 12 were included. We compared the mean serum beta-hCG levels on POD 12, 14, 21, and 28, doubling time of serum hCG, and created a cut-off value for predicting a singleton pregnancy in each group. RESULTS: The mean serum beta-hCG concentration of the PGD group was significantly lower than that of the control group on POD 12, 14, and 21. The doubling time of serum beta-hCG at each time interval showed no significant difference. The cut-off-value of serum beta-hCG for predicting a single viable pregnancy was 32.5 mIU/mL on POD 12 and 113.5 mIU/mL on POD 14 for the PGD group, which was lower than that for the control group. CONCLUSION: Blastomere biopsy may decrease the beta-hCG-producing activity of the trophoblasts, especially in early pregnancy. Setting a lower cut-off value of serum beta-hCG for predicting pregnancy outcomes in PGD may be needed.
Biopsy ; Blastomeres ; Chorionic Gonadotropin ; Female ; Humans ; Pregnancy ; Pregnancy Outcome ; Preimplantation Diagnosis ; Prostaglandins D ; Sperm Injections, Intracytoplasmic ; Trophoblasts

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 PGD cycles and 1,161 age-matched ICSI cycles, which resulted in pregnancy (serum beta-hCG> or =5 mIU/mL) on post-ovulation day (POD) 12 were included. We compared the mean serum beta-hCG levels on POD 12, 14, 21, and 28, doubling time of serum hCG, and created a cut-off value for predicting a singleton pregnancy in each group. RESULTS: The mean serum beta-hCG concentration of the PGD group was significantly lower than that of the control group on POD 12, 14, and 21. The doubling time of serum beta-hCG at each time interval showed no significant difference. The cut-off-value of serum beta-hCG for predicting a single viable pregnancy was 32.5 mIU/mL on POD 12 and 113.5 mIU/mL on POD 14 for the PGD group, which was lower than that for the control group. CONCLUSION: Blastomere biopsy may decrease the beta-hCG-producing activity of the trophoblasts, especially in early pregnancy. Setting a lower cut-off value of serum beta-hCG for predicting pregnancy outcomes in PGD may be needed.
Biopsy ; Blastomeres ; Chorionic Gonadotropin ; Female ; Humans ; Pregnancy ; Pregnancy Outcome ; Preimplantation Diagnosis ; Prostaglandins D ; Sperm Injections, Intracytoplasmic ; Trophoblasts

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 was carried out in 25 cycles of 15 couples. Two-color FISH analysis was performed on 54 polar bodies in 3 cycles and 234 blastomeres in 22 cycles. After FISH analysis, the embryos with normal FISH signals were transferred into mother's uterus. RESULTS: In FISH analysis of polar bodies, 18 nuclei of polar bodies were normal and 12 embryos were transferred in 3 cycles. FISH efficiency per oocyte was 95.0% in cases using polar bodies. In FISH analysis of blastomeres, 49 embryos were normal and transferred in 21 cycles. FISH efficiency per embryo was 92.7% using blastomeres. At present, three pregnancies were achieved. A girl and a boy were delivered. Both of them were translocation carriers. The other conceptus showed normal karyotype. CONCLUSIONS: According to this study, PGD using FISH can be successfully applied for the patients with translocations of chromosomes.
Blastomeres ; Embryonic Structures ; Family Characteristics ; Female ; Fluorescence* ; Humans* ; Karyotype ; Male ; Oocytes ; Polar Bodies ; Pregnancy ; Preimplantation Diagnosis* ; Prostaglandins D ; Uterus

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

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 after invasive prenatal diagnosis. The molecular biology and technology for single-cell genetics has reached an extremely high level of accuracy, and has enabled the possibility of performing multiple diagnoses on one cell using whole genome amplification. These technological advances have contributed to the avoidance of misdiagnosis in PGD for single gene disorders. Polymerase chain reaction (PCR)-based PGD will lead to a significant increase in the number of disorders diagnosed and will find more widespread use, benefiting many more couples who are at risk of transmitting an inherited disease to their baby. In this review, we will focus on the molecular biological techniques that are currently in use in the most advanced centers for PGD for single gene disorders, including biopsy procedure, multiplex PCR and post-PCR diagnostic methods, and multiple displacement amplification (MDA) and the problems in the single cell genetic analysis.
Biopsy ; Diagnostic Errors ; Displacement (Psychology) ; Family Characteristics ; Genome ; Molecular Biology ; Multiplex Polymerase Chain Reaction ; Polymerase Chain Reaction ; Pregnancy ; Preimplantation Diagnosis ; Prenatal Diagnosis ; Prostaglandins D ; Reproductive Techniques, Assisted

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 translocation, PGD can reduce the abortion rate and with PGD for aneuploidy screening, higher implantation rate and lower abortion rate can be obtained in patients with poor reproductive prognosis. Therefore PGD is widely used in ART for improving IVF efficiency. With technical development in single cell, such as FISH, PCR, CGH and microarray, the indications have expanded beyond the monogenic disease and chromosome aberration, as late-onset disease or HLA matching for stem cell donor.
Abortion, Induced ; Abortion, Spontaneous ; Aneuploidy ; Chromosome Aberrations ; Family Characteristics ; Female ; Humans ; Mass Screening ; Polymerase Chain Reaction ; Pregnancy ; Preimplantation Diagnosis* ; Prognosis ; Prostaglandins D ; Stem Cells ; Tissue Donors ; Translocation, Genetic

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.
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