Genetic Screening and infertility. A Guest Post for National Infertility Awareness Week. Your genetics may be preventing you from conceiving a child
Either one partner or both partners can contribute to infertility challenges. The importance of genetics in the infertility puzzle has long been ignored and overlooked…until now. Although more women generally have infertility diagnoses than men, men are more likely to have a genetic, possibly correctable, type of infertility. Since there is a significant chance that genetic factors may be preventing a pregnancy, it is important that both men and women with infertility have genetic screening to understand their personal genetic risks for infertility.
There are many different genetic causes of infertility. The two main genetic abnormalities are chromosome changes and gene mutations; these genetic abnormalities impair the reproductive system in some manner leading to decreased fertility in men or women. The majority of men with genetic causes of infertility have defects in sperm development or transportation; while women primarily have some form of ovarian dysfunction or hormonal imbalances.
Chromosome changes are genetic abnormalities that often times affect the sex chromosomes, although other types of chromosome changes can contribute to infertility as well. People with missing or extra X or Y chromosomes have disorders known as sex chromosome aneuploidies. Sex chromosome aneuploidies impact fertility by disrupting reproductive development. One of the most common sex chromosome aneuploidies causing infertility in women is Turner syndrome and occurs when a woman has only one X chromosome instead of the typical two X chromosomes in every cell.
Gene mutations are genetic abnormalities that affect a specific gene which alters a reproductive function. One of the most well-known causes of male infertility is mutations in the CFTR gene. Mutations in the CFTR gene can cause a specific condition in men called Congenital Bilateral Absence of the Vas Deferens (CBAVD). CBAVD disrupts the function of the vas deferens, by blocking the vas deferens and preventing sperm from leaving the testes causing men to be infertile. Luckily with this particular gene mutation, most men can benefit from assisted reproductive technologies in order to father biological children.
Fertility screening for both men and women allows a person to assess their personal genetic risk for infertility and provides more options for couples in managing their reproductive health. The genetic causes of infertility for men and women are complex but knowing your own genetics is the first step!
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