No abstract available.
Preimplantation Diagnosis*

No abstract available.
Embryonic Structures* ; Fluorescence* ; Humans* ; In Situ Hybridization* ; Preimplantation Diagnosis*

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 perform genetic analysis, prenatal diagnosis and preimplantation genetic diagnosis (PGD) in a family with a rare deletional β- thalassemia. METHODS: Hematological parameters of the peripheral blood collected from all the family members were analyzed by whole blood cell analysis and capillary zone electrophoresis (CZE). Polymerase chain reaction-reverse dot blot (PCR-RDB) was used to identify 17 common β- thalassemia gene mutations, the multiplex ligation-dependent probe amplification (MLPA) and gap-polymerase chain reaction (gap-PCR) were used to identify β- globin gene cluster deletions. Chorionic villus sample or umbilical cord blood was obtained for prenatal diagnosis. Oligo-cells from blastocyst biopsy were collected for preimplantation genetic diagnosis by whole genome amplification and next generation sequencing. RESULTS: The proband was a carrier of Taiwanese deletion β- thalassemia, two fetuses were both thalassemia majors. The PGD results showed that 6 of 11 tested embryos could be choose for transplantation. CONCLUSION The Taiwanese deletion is a rare type deletion of β- globin gene cluster, and it can lead to thalassemia intermedia or thalassemia major when compounded with other β- globin gene mutation. PGD is another choice for thalassemia couples.
Female ; Genetic Testing ; Humans ; Pregnancy ; Preimplantation Diagnosis ; Prenatal Diagnosis ; alpha-Thalassemia ; beta-Thalassemia ; genetics

Preimplantation genetic diagnosis is a very early form of prenatal diagnosis aimed at eliminating embryos carrying serious genetic diseases before implantation. The basic techniques currently used involve embryo biopsy, the polymerase chain reaction and fluorescence in situ hybridization. In the current review, a number of problems arising from the use of these technologies as well as the possible solutions and new developments are discussed.
Cytogenetic Analysis ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Pregnancy ; Preimplantation Diagnosis ; Primed In Situ Labeling

No abstract available.
Epidermolysis Bullosa ; Muscular Dystrophy, Duchenne ; Ornithine Carbamoyltransferase ; Polymerase Chain Reaction* ; Preimplantation Diagnosis*

No abstract available.
Chromosome Aberrations* ; Embryonic Structures* ; Humans ; Male* ; Preimplantation Diagnosis* ; Sperm Injections, Intracytoplasmic*

OBJECTIVE: To assess the application value of mapping allele with resolved carrier status (MaReCs) technique for preimplantation genetic testing (PGT). METHODS: The characteristics of MaReCs for PGT and outcome of patients were retrospectively analyzed. RESULTS: Compared with those who could not use the technique, carriers who have used the MaReCs technique were younger, had significantly higher level of anti-Mullerian hormone, more antral follicles, occytes, mature occytes, biopsied embryos and euploid embryos, and lower risks for de novo chromosomal abnormality (P<0.05). It was necessary for couples with fewer oocytes, mature oocytes and balstocyst to preserve discarded embryos to facilitate the test. Carriers who have used the MaReCs technique had higher clinical pregnancy rate and abortion rate compared with those undergoing routine PGT, albeit no significant difference was found between the two groups (P> 0.05). Carriers undergoing MaReCs test could preferentially select embryos with normal chromosome structures for the transfer. CONCLUSION Application of MaReCs has a prerequisite for having a minimum number of occytes and biopsied embryos and using discarded embryos sometimes. MaReCs is efficient for the detection of carrier status of embryos and attaining higher rate of pregnancy and live birth, which can significantly improve the outcome for couples carrying chromosomal translocations.
Alleles ; Aneuploidy ; Blastocyst ; Female ; Fertilization in Vitro ; Genetic Testing ; Humans ; Pregnancy ; Preimplantation Diagnosis ; Retrospective Studies ; Translocation, Genetic

OBJECTIVE: To carry out preimplantation genetic testing (PGT) for a couple where the husband was affected by osteogenesis imperfecta combined with balanced translocation using the karyomapping technique. METHODS: Blastocysts were detected using karyomapping, the carrier status of COL1A1 c.760G>A (p.Gly254Arg) variant and the carrier status of the translocated chromosome were analyzed simultaneously. RESULTS: For a total of 10 blastocysts, two euploid blastocysts were found to not carry the COL1A1 c.760G>A (p.Gly254Arg) variant but a balanced translocation. After transplanting one of the blastocysts, clinical pregnancy was achieved. Amniocentesis at 18th gestational week and prenatal genetic testing was in keeping with the result of PGT.A healthy female was born at 40+4 weeks gestation. CONCLUSION For patients simultaneously carrying genetic variant and balanced chromosomal translocation, PGT can be performed with efficiency by the use of karyomapping method.
Blastocyst ; Female ; Fertilization in Vitro ; Genetic Testing ; Humans ; Osteogenesis Imperfecta/genetics* ; Pregnancy ; Preimplantation Diagnosis ; Spouses ; Translocation, Genetic

Female ; Fertilization in Vitro ; Humans ; Klinefelter Syndrome/genetics* ; Pregnancy ; Preimplantation Diagnosis ; Sperm Injections, Intracytoplasmic