Genetic Disorders and Family Planning

Some genetic disorders that are considered to have potential influence on your family planning include:

Polycystic Ovarian Syndrome (PCOS): 
PCOS is a common endocrinal disorder. It's a common cause of infertility among women characterised by an ovulation dysfunction or impedance to the normal growth and release of eggs from the ovaries.

Hereditary Disorders: 
In women with a family history of hereditary disorders such as hemophilia, sickle cell anemia, cystic fibrosis, and thalassemia, the chances of child developing these conditions is more.

Recurrent Miscarriages: 
Miscarriages are not always genetic based. However, parental chromosomes are important to review – with a ‘balanced translocation’ in either the man or the woman being a cause of a recurrent miscarriage.

PCOS: The exact cause of the polycystic ovarian syndrome is unknown. However, several factors including genetics have been implicated to play a role in the development of PCOS. Women with a family history of polycystic ovarian syndrome are at a higher risk of developing this condition.

Hereditary disorders: As previously stated, in women with a family history of hereditary disorders such as hemophilia, sickle cell anemia, cystic fibrosis, and thalassemia, the chances of child developing these conditions is more. Therefore before planning for pregnancy doctor may suggest both mother and father to undergo certain tests to identify such diseases.

Recurrent Miscarriages: The number 1 reason is abnormal chromosomes in the fetus (called ‘aneuploidy’) – responsible for some 50% of miscarriages. This becomes more likely the older a woman is. Parental chromosomes are also important to review – with a ‘balanced translocation’ in either the man or the woman being a cause of recurrent miscarriage.

Pregnancy planning is the preparation for pregnancy and the planning can be done by discussing with the doctor well before pregnancy. The planning process enables to create a healthy environment for the fetus, prevents birth defects and other pregnancy related problems. It also makes sure that to be pregnant women do not have any illness or pre-existing diseases which may affect the pregnancy. Although, many women have normal pregnancies, pre-planning improves the chances of smooth pregnancy and a healthy baby.

Some of the issues addressed by obstetricians in pregnancy planning include:

Medical conditions:
A thorough medical examination before pregnancy helps in diagnosing the medical conditions that may affect the mother and the baby such as diabetes, high blood pressure, anemia, kidney disorders, thyroid diseases, and heart problems. Certain medications can cause harm to mother and the baby, therefore, consulting the doctor before taking them is essential.

Infections and vaccinations:
During pregnancy, the mother will be more susceptible to infections which may cause serious birth defects or illness in the baby. Tests are done to determine immunity against diseases such as measles and chickenpox. If the expecting mother lacks antibodies against these diseases, then the doctor will advise to get vaccination before pregnancy.

Immunization:
If the mother is a carrier of hepatitis-B virus, blood tests will be done to identify the virus and the child will be vaccinated at birth. Vaccination protects the fetus from hepatitis-B infections.

Medications:
Women who are infected with human immunodeficiency virus (HIV) will be advised to take certain medications during pregnancy to decrease the risk of fetus getting infected with HIV.

Diet:
Eating healthy is very important. Your doctor may suggest changes in your diet to make pregnancy effective. It includes intake of vitamins, proteins, and folic acid supplements. Your doctor may also advise to avoid alcohol, tobacco, and drugs as they may affect the baby in many ways.