Pregnancy after embryo biopsy and coamplification of DNA from X and Y chromosomes

Article Abstract:

Coamplification is a technique to determine the sex of an embryo by analyzing a blastomere from an embryo using the polymerase chain reaction (PCR). A blastomere is one of the cells produced by the splitting of a fertilized egg. This technique is used to diagnose sex-linked disorders with a 50% risk of transmission to males and is performed before the embryo has implanted into the wall of the uterus. Analysis can be completed in less than five hours. Researchers assume the embryo to be female if DNA analysis show no evidence of male genetic markers. Of 29 embryos fertilized by a single sperm for each one (monospermic), gender was misdiagnosed in 3.4% of samples. In 18 polyspermic embryos, the diagnostic error rate was 6%. Researchers followed strict procedures to prevent contamination and only female technicians handled specimens after biopsies were performed. There was no harm to the embryo from removing a single blastomere from a six-cell to 10-cell human embryo.

Innovations, Prenatal diagnosis

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Assessment of numeric abnormalities of X, Y, 18, and 16 chromosomes in preimplantation human embryos before transfer

Article Abstract:

Fluorescence in situ hybridization appears to be a promising technique for genetic analysis of embryos before implantation. Six- to eight-cell human embryos obtained from in vitro fertilization procedures that were not going to be implanted were separated into their component cells. Chromosomes 18, X, 16, and Y were labeled with fluorescent stains of different colors for each chromosome, and the cells were microscopically examined. Abnormal numbers of one or more of these chromosomes were found in 23% of normally developing embryos and 42% of abnormally developing embryos. These results were not unexpected because it is known that chromosomal aberrations frequently cause the pregnancy to be lost shortly after conception. Since studies have shown that removing one or two cells for evaluation at the six- to eight-cell stage does not harm the embryo, this technique of genetic evaluation may prove useful in maximizing the chance of implantation with a viable embryo.

Methods, Analysis, In situ hybridization, Aneuploidy

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First Unaffected Pregnancy Using Preimplantation Genetic Diagnosis for Sickle Cell Anemia

Article Abstract:

In vitro fertilization and pre-implantation diagnosis can allow people with sickle cell anemia to have a healthy child. Researchers used in vitro fertilization to create seven human embryos for one couple who both carried the sickle cell gene mutation and then took a single cell from each embryo to analyze it for the presence of the mutation. Two embryos had the mutation. Three embryos that did not have the mutation were implanted in the woman's uterus and she subsequently gave birth to healthy twins.

Prevention, Sickle cell anemia

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