Genetics, Fertility, and Preimplantation Genetic Diagnosis

Conditions such as abnormal deletions or rearrangements of chromosomes, which affects the genetic information, or an abnormal number of chromosomes (aneuploidy) can lead to early miscarriage.

Advances in genetic testing employed by our NY fertility clinic are not limited to amniocentesis or chorionic villi sampling (CVS). These procedures are usually performed in the second trimester of an already established pregnancy. Today, we can perform preimplantation transfer/genetic diagnosis (PGD) thus virtually eliminating the chance of transferring an abnormal embryo(s) for the disease screened. In PGD, the embryos, resulting from an IVF cycle, are examined by biopsy for certain genetic diseases. Many of these genetic diseases result from an abnormal number of chromosomes or chromosomes with an abnormal structure. Embryos which carry the disease are not transferred to the mother's uterus in the IVF cycle.

Moreover, one could look and select the gender of the baby for the purpose of avoiding illnesses or for balancing families, sexing of their children (e.g. family has 2 boys and want the future child to be a girl. Some diseases, such as hemophilia, are carried on the sex chromosomes and can thus only be transferred to a child of the affected gender.

Sex selection is performed by additional procedures such as intrauterine insemination (IUI) with "enriched sperm" with the selected gender. More "Y" sperm for boys and more "X sperm" for girls. Gender selection can also be accomplished using PGD where only the embryos of the desired sex are transferred to the mother.

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