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Ways to Identify Genetic Diseases in the Early Embryo

Genetic testing is offered to women generally after week 10 of their pregnancy. For couples faced with higher risks of having a baby with a genetic disorder, preimplantation genetic diagnosis is available via in vitro fertilization (IVF) to screen embryos prior to implantation.

  1. Genetic Disorders

    • Genetic disorders are inherited from a single gene, chromosomal from a missing, extra or damaged chromosome, and multifactorial from a combination of genetic and environmental factors.

    Preimplantation Genetic Diagnosis (PGD)

    • PGD is a procedure available to couples undergoing IVF where a single cell is removed from an embryo prior to implantation in the female patient. DNA from the cell is analyzed in a laboratory and screened for genetic disorders.

    Benefits of PGD

    • Recessive and dominant sex-linked disorders, single gene disorders and chromosomal rearrangements are identified through PGD. For couples carrying sex-linked or single gene disorders, those with chromosomal disorders and women over 35, PGD could be beneficial in their efforts to have a baby.

    Genetic Counseling

    • Genetic counselors are trained in genetics and can help couples assess their risk of having a baby with a genetic problem based on family history and the results of any testing.

    Warning

    • Your doctor will help you determine which genetic screening tests are appropriate before and during your pregnancy based on your individual case and how to interpret any test results.

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