Infertility & Recurrent Miscarriage

Indications • Genetic Causes

Additional Indications

Aneuploidy and Advanced Maternal Age
Women of advanced maternal age (> 35) are at a higher risk of producing aneuploid embryos, resulting in implantation failure, a higher risk of miscarriage or the birth of a child with a chromosome abnormality (e.g. Down syndrome). This is due to the fact that all of the woman's eggs are present at birth. Over time, the chromosomes within the egg are less likely to divide properly, resulting in cells with too many or too few chromosomes. Aneuploidy is also believed to be a major reason for the decrease of fertility with age. Prior to attempting a pregnancy, women in this age group may wish to talk with their physician or a medical geneticist about their chances of having a child with a genetic disease and how PGD may be able to help.

In the PGD laboratory, Dr. Kearns determined aneuploidy for 59 embryos from mothers >37 years of age using FISH. First he determined aneuploidy for chromosomes 13, 18, 21, X and Y and found 50% of the embryos aneuploid. He then determined aneuploidy for chromosomes 1, 16 and 22 and found an additional 12% of the previously "normal" embryos aneuploid. Therefore, our data, and that of others, suggests that approximately 62% of embryos from women of advanced maternal age may be aneuploid.

Table: Women of advanced maternal age are at increased risk of producing an embryo affected with a genetic disease.

Male Factor Infertility
Approximately one-half of all infertility is caused by sperm abnormalities. Many sperm disorders are due to a chromosome abnormality such as aneuploidy or a structural chromosome abnormality. Men carrying a balanced translocation chromosome are at risk of producing sperm with a structural chromosome abnormality. Dr. Kearns’s laboratory has shown that approximately 3 to 8% of sperm from normal, fertile men are aneuploid. In contrast, between 27 and 74% of sperm from men with severe infertility (i.e. low sperm count, poor morphology, poor motility) is aneuploid. Couples with infertility due to male factor, should consider chromosome analysis on the males sperm prior to IVF.

Y Chromosome Deletions and Infertility — Y chromosome deletions are found in approximately 5 to 20% of males with a very low sperm count. These deletions appear to impair normal sperm development. While these deletions do not appear to cause any genetic disease, they appear to decrease the chance of men with a low sperm count to successfully fertilize eggs in a normal way.

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