Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification

@article{Handyside1990PregnanciesFB,
  title={Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification},
  author={Alan H Handyside and Eleni H. Kontogianni and K Hardy and Robert M. L. Winston},
  journal={Nature},
  year={1990},
  volume={344},
  pages={768-770}
}
OVER 200 recessive X chromosome-linked diseases, typically affecting only hemizygous males, have been identified. In many of these, prenatal diagnosis is possible by chorion villus sampling (CVS) or amniocentesis, followed by cytogenetic, biochemical or molecular analysis of the cells recovered from the conceptus. In others, the only alternative is to determine the sex of the fetus. If the fetus is affected by the defect or is male, abortion can be offered. Diagnosis of genetic defects in… Expand

Paper Mentions

Observational Clinical Trial
Records of women who had Pre-genetic diagnosis (PGD) over the last 3 years will be reviewed and its outcome will be compared to other records of women who had IVF/ICSI without PGD.  
ConditionsPregnancy
InterventionGenetic
Co-Amplification of X- and Y-Specific Sequences for Sexing Preimplantation Human Embryos
TLDR
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TLDR
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TLDR
The SRY and ZP3 gene primers selected are highly specific and give accurate results in sex determination and their use provides a new reliable method for routine preimplantation and general prenatal sex determination in man. Expand
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An overview of indications for, and techniques used in, PGD is provided and results obtained with the technique and outcomes of pregnancies are discussed, and a brief review of new technologies is included. Expand
Chapter 23 – Preimplantation Genetic Diagnosis
TLDR
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TLDR
FISH technique for sexing in couples with sex-linked diseases detected simultaneously both gender and ploidy status and found that when two sex chromosomes and two autosomes were present in the biopsied blastomere, the sex determination was never in conflict with thesex determination in the rest of the embryo. Expand
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TLDR
In spite of the high cost of the preimplantation diagnostic technique at present, its development is highly justified for high risk families as it provides a wider range of options for avoiding the risk of having an affected child. Expand
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References

SHOWING 1-7 OF 7 REFERENCES
BIOPSY OF HUMAN PREIMPLANTATION EMBRYOS AND SEXING BY DNA AMPLIFICATION
TLDR
A single cell was removed from each of 30 human embryos at the 6-10 cell cleavage stage three days after in-vitro fertilisation, and each male embryo was sexed from the DNA by amplification of a repeated sequence specific for the Y chromosome. Expand
Genetic analysis of DNA from single human oocytes: a model for preimplantation diagnosis of cystic fibrosis.
TLDR
Genotyping for single gene disorders is feasible with an accuracy and on a time scale that would allow implantation of the zygote after in vitro fertilisation without freezing, with a new technique for specific DNA amplification, the polymerase chain reaction. Expand
Human pregnancy following cryopreservation, thawing and transfer of an eight-cell embryo
TLDR
Cryopreservation procedures that allow a high survival rate of four- and eight-cell human embryos and the establishment of a pregnancy following the freezing and storage of an eight- cell embryo for 4 months in liquid nitrogen are reported. Expand
An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.
TLDR
By means of this method, carrier detection and prenatal diagnosis of hemophilia in two families are performed with use of the factor VIII intragenic polymorphisms identified by the restriction enzymes Bc/I and XbaI. Expand
Improvement of in vitro fertilisation after treatment with buserelin, an agonist of luteinising hormone releasing hormone
TLDR
Buserelin increased the chance of pregnancy after in vitro fertilisation compared with conventional treatment, but the risk of multiple pregnancy may be increased. Expand
Repeated sequence specific to human males
Restriction enzyme analysis and nucleic acid hybridisation show that there is a repeated sequence in human male DNA which is not present in human female DNA. This sequence is shown to constituteExpand
Length variation in the quinacrine-binding segment of human Y chromosomes of different sizes.
The affinity of the long arm of the Ychromosome for quinacrine dihydrochloride has been used in a study of size variation in this chromosome. Measurements made on cells from 12 subjects with Y chromos