Gynecological Diseases And Genetics

Gynecological Diseases And Genetics

Pre-conception counselling is important and parents-to-be must be informed that any deletion or gene disorder may be transmitted to their children

With research and medical advancements, new genes are being identified and associated diseases regarding such genes are now identified. The knowledge of an association between genetics and gynecological diseases help carry out a systematic check-up of a woman who has been incidentally diagnosed with a certain disease.

Maternal Cardiac Disease

Genetic cardiac disease can be either chromosomal, congenital, multifactorial or genetic etiology or CAD (coronary artery disease) with genetic and lifestyle factors. Pre-conception counseling is important and parents-to-be must be informed that any deletion or gene disorder may be transmitted to their children. Early detection using non- invasive testing by Foetal ECHO and invasive testing by amniocentesis should be discussed with the couple.

Some of the congenital heart defects associated with gene deletions are familial congenital heart disease, Tetralogy of Fallot (TOF) syndromes like DiGeorge syndrome, Holt-Oram syndrome, Noonan syndrome, Marfan syndrome and Costello syndrome, which may affect reproductive health.


Women with epilepsy may be up to 50 per cent less likely to conceive, as compared to their sibling without epilepsy. Pre-conception counseling is important for an epileptic woman who is pregnant, as there is an increased risk of birth defects due to the use of anti-epileptic drugs. Hence, keeping a lookout for congenital defects is vital in women with epilepsy, on anti-epileptic medications.


Leiomyoma or fibroids are the most common benign tumours of the uterus. However, its genetic factors are being identified. Somatic mutations and less frequent molecular alterations in X chromosome may be responsible for the development of myoma that mostly results from stable mutations. Specific genetic association is seen with HLRCC in which individuals have a high risk of leiomyomas of the skin, uterus as well as renal cancers. Family history of leiomyoma and ethnicity are important factors to consider when evaluating women with fibroids.


It can be acquired or genetic. Genetic thrombophilias such as protein C, S, factor V Leiden, prothrombin gene mutation, all are associated with adverse pregnancy outcomes. Maternal problems are deep vein thrombosis, venous thrombo-embolism, pulmonary embolism, cerebral vein thrombosis, and severe pre-eclampsia. Screening for thrombophilia should be done for women with a history of thromboembolism, DVT and severe pre-eclampsia in previous pregnancy.

Mullerian Anomalies

Women with absent uterus and vagina but normal ovaries and secondary sexual characters usually suffer from MRKH (Mayer-Rokitansky-Kustner- Hauser Syndrome). It is associated with renal and skeletal abnormalities and a wide variety of presentations. Proper evaluation and surveillance is needed for women with this particular syndrome.

Cancer And Hereditary Cancer Syndromes

The relationship of cancers with genes has warranted testing for mutations in BRCA 1 and BRCA 2 genes which are responsible for breast and ovarian cancer and also mismatch repair genes responsible for hereditary non polyposis cancer syndromes also known as Lynch syndrome. There is scientific evidence that chemoprevention and intensive screening improves health outcomes in women who test positive for deleterious mutations in BRCA 1 and BRCA 2.

Incidence of breast and ovarian cancer can be decreased with risk reduction surgery in these cases. The risk of breast cancer is up to 87 per cent by the age of 70 in women with BRCA mutations. The patient should be given options and counselling regarding prophylactic salpingo-oophorectomy (where the ovaries and fallopian tubes are surgically removed) and mastectomy (where the breasts are surgically removed) and also for increased lifetime risk of BRCA related cancers such as ovarian, fallopian tube, primary peritoneal cancers.

Women with BRCA mutations, who have not undergone risk-reduction mastectomy, should mandatorily undergo intensive screening with annual mammograms and annual MRI mammogram after 25 years of age.

Endometrial Cancers

Endometrial cancers can also be a part of hereditary syndromes. It is associated with Lynch syndrome or HNPCC. This mutations account for 30-60 per cent of lifetime risk of endometrial cancers in women carriers, Prophylactic surgery salpingo-oophorectomy may be considered as compared to other screening modalities.

As Lynch syndrome is not associated with breast cancer, estrogen replacement therapy can be given after surgery. For early detection of ovarian cancers, there are no specific guidelines or screening tests but CA 125 levels and transvaginal scan can help in detecting around 50 per cent of ovarian cancers in stage one and stage two of the disease.

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