Many couples consider lifestyle, nutrition, and timing when trying to conceive. Nevertheless, an important factor is frequently overlooked: genetics. Some genetic disorders can be passed from parents to children, potentially affecting their health. Recognising these risks and discussing them with a fertility specialist can enable couples to take control of their decisions.

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How Do Genetic Disorders Pass to Children?

Genetic diseases arise through mutation in genes that can be inherited in various patterns. Certain disorders are inherited in an autosomal dominant manner, that is only one of the parents needs to be mutated to transmit this mutation to the child. Examples include Huntington’s disease and Marfan syndrome. The examples include autosomal recessive where two parents are carriers for the disease to be expressed in the child. Cystic fibrosis and sickle cell anemia follow this pattern. X-linked diseases such as haemophilia and Duchenne muscular dystrophy are inherited on the X chromosome and mainly affect boys.

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Common Genetic Disorders That Affect Fertility and Pregnancy

In the context of fertility or pregnancy, some of the genetic disorders affect fertility or pregnancy. Thalassemia, a hereditary disorder of the blood, has a high prevalence in the South Asian region, such that there is a risk of transmitting it from carriers to offspring. When both parents are carriers, the risk of severe thalassemia is higher in the child. A second target for inherited intellectual disability, the fragile X syndrome, can also cause premature ovarian failure in women. Chromosomal disorders such as Down syndrome arise from the presence or absence of an extra or a deleted chromosome, which results in increased chances of abortion or birth defects.

Genetic Testing: A Preventive Step for Parents

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Pregnancies planning for pregnancy can choose to undergo carrier screening tests for the presence of mutations in specific genetic diseases. This is also particularly valuable for people in families affected by genetic Disorders. Preimplantation Genetic Testing (PGT) applied to IVF couples can be used to screen embryos for chromosomal abnormalities before implantation, possibly reducing the transmission of Mendelian genetic diseases.

When Should You See a Fertility Specialist?

It is advisable to involve a fertility specialist if either person or the partner has family history of genetic disorders, recurrent miscarriage, or comes from a high-risk ethnic origin. Consult a fertility specialist if you've been trying to conceive for over a year (or six months if you're over 35) without success. They can help navigate genetic counseling and genetic testing options so that a healthy pregnancy is possible.

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Conclusion

Although genetic risk factors can appear overwhelming, innovations in the field of reproductive medicine provide couples with means to choose informed. Knowledge about own genetic background and medical advice can provide the optimal chance of a successful pregnancy in future child.

Dr Santosh Gupta- Fertility Specialist at Nova IVF Fertility, Koramangala and Bannerghatta, Bangalore