By Dr. Meenal Agarwal

Preconception screening programme

  • Do you want a healthy pregnancy and child?
  • Are you having difficulty in conceiving or having IVF failures?
  • Have you experienced miscarriages in the past and are worried for future pregnancy outcomes?
  • Are you married to a close blood relative?
  • Is anyone in your family diagnosed with a genetic condition?
  • Are you anxious about the risk of genetic diseases in your child?

If any of the above questions’ answer is yes, then you will be benefitted by enrolling in the preconception screening programme at Tata Centre for Reproductive Health at KEM Hospital, Pune

1. What is the preconception period?

In an active reproductive life, the period or phase before conception is called the preconception period. Since the timing of conception is never sure, the time when a couple stops using any contraception or starts thinking about having a baby is considered the preconception period. Generally the three months before a woman conceives and up to one month after conception is a critical period, which can have significant effects on the health of the mother, the baby and the overall outcome of the pregnancy.

2. What is the purpose of preconception screening?

The World Health Organisation (WHO) defines Preconception care as the provision of biomedical, behavioural and social health interventions to women and couples before conception occurs. It aims at improving their health status, and reducing behaviours and individual and environmental factors that contribute to poor maternal and child health outcomes. By enrolling in a preconception screening programme, a couple can substantially increase the chances of having a healthy baby.

3. Who should enroll themselves in a preconception screening programme?

This programme is mainly aimed for those couples, who are planning pregnancy in next 6 months to a year time. The program includes includes consultation with a Medical Geneticist, a gynaecologist, a pelvic USG of female partner and a few blood investigations. Based on the family/ personal history and genetic risk assessment additional tests may be recommended after the consultation sessions.

4. Will preconception care increase the likelihood of becoming pregnant?

4 of 5 couples are likely to conceive within one year of unprotected intercourse. Preconception care will make the couple better prepared for the upcoming pregnancy. Small changes in their lifestyle, nutrition and management of some medical conditions will increase the likelihood of a healthy pregnancy and successful pregnancy outcome.

5. What if a couple is having problems conceiving?

As a part of the preconception screening programme, our team of Gynecologist, IVF experts and medical geneticist will assess the risk and will provide the customised solutions.

6. What if the family has had miscarriages in the past and wants to ensure a successful pregnancy?

Miscarriage is relatively common event during reproductive life. Most of time miscarriages happen by chance and there is a very high chance of having successful pregnancy outcomes. However if someone is experiencing two or more miscarriages, our team of gynaecologists and a geneticist will assist them in understanding the cause and will guide them for the future pregnancies.

7. What if the couple is already having some pre-existing medical conditions ?

Yes, certain medical conditions (SLE, Diabetes mellitus) and medicines (e.g. for epilepsy and for depression) consumed by female partner may have serious effects on fetal organ structures. As a part of preconception screening programme, these medical conditions and management will be reassessed and if needed some modifications will be suggested.

8. What if, there is a history of genetic disease in the family and family is concerned about genetic disease in their baby?

Every pregnancy has some risk of genetic condition in the baby. The Preconception programme includes consultation with a medical geneticist who will further guide them for the carrier screening for common genetic disorders such as beta thalassemia, congenital adrenal hyperplasia and spinal muscular atrophy. If the family has other concerns such as family members who may be affected by a presumed genetic disorder, this will be addressed in a genetic counseling session. Genetics tests sometimes may take up to 3-6 months of time and hence preconception phase is an ideal time for genetic risk assessment.

9. What if, previous pregnancy has resulted in a healthy baby?

Yes, every pregnancy is a new event and hence preconception screening will be helpful to all couples who are planning pregnancy even though they have had a healthy baby in the past.

10. What if someone is married to a close blood relative? Do they need to worry about genetic disorders in their child ?

There is a background risk of 3% to 5% for major genetic abnormalities in every pregnancy, regardless of their family history or any other factors. If marriage happens between close blood relatives like cousins, then this risk is increased 2-3 times. In other words, in 90% of such marriages, children are born normal. However, it is recommended that they get themselves screened for common genetic disorders like beta thalassemia, congenital adrenal hyperplasia and spinal muscular atrophy. The couple however, may talk to Geneticist, get their concerns resolved and opt for a few advanced genetic testing options.

11. What are the few most important steps for preconception care?

There is a background risk of 3% to 5% for major genetic abnormalities in every pregnancy, regardless of their family history or any other factors. If marriage happens between close blood relatives like cousins, then this risk is increased 2-3 times. In other words, in 90% of such marriages, children are born normal. However, it is recommended that they get themselves screened for common genetic disorders like beta thalassemia, congenital adrenal hyperplasia and spinal muscular atrophy. The couple however, may talk to Geneticist, get their concerns resolved and opt for a few advanced genetic testing options.

  1. Female partner should start taking folic acid supplements as soon as they stop using contraception and start planning for pregnancy. Usually a 400 microgram daily dose is sufficient to prevent neural tube defects (a defect in spine formation of the baby) in about 90% of cases. They may need higher doses of folic acid if they have pre-existing diabetes or have any history of previous child affected neural tube defects or they are on anti-epileptic drugs.
  2. Both partners should stop smoking, drinking alcohol and consuming any other illicit drug
  3. Both partners should involve themselves in a healthy lifestyle with a healthy diet and a light exercise plan.
  4. Enroll in a preconception screening programme

For any query/ appointment, please contact
Tata Centre for Reproductive Health at KEM Hospital, Pune
Phone: 02066037385 WhatsApp: 7030945912

Dr. Meenal Agarwal

Full Time Medical Geneticists