Developmental defects, Medicines and Folic acid!

Bulk of practice in paediatric surgery deals with correction of developmental deformities that may arise in the baby, and this is one aspect of surgery where the age old adage “Prevention is better than cure “ holds true beyond doubt.

The cause of developmental defects is unclear. Less than 20% are related to genetic causes. In 70% of the cases the cause is obscure, but in 10% of the cases, defects occur due to environmental factors such as radiation, drugs, chemicals, heat, infection etc. They had their most impact during the time the embryo develops. It is also believed that in 70% of obscure cases a good percentage may be due to an effect of exposure to chemical agents (insecticides, pesticides, paints, etc.) or intake of drugs during early pregnancy. Thus drugs seem play most important role in the environmental factors affecting the baby.
Some of the effects medicines can cause are:

· Smaller baby size (e.g. smoking)
· Limb defects (e.g. thalidomide)
· Addiction (e.g. morphine)
· Brain problems (e.g. alcohol)
· Heart or kidney problems (e.g. alcohol)
· Various malformations e.g. cleft palate.
· Problems with blood flow to the baby (e.g. Anti-inflammatory drugs)
· Behavioural problems (e.g. alcohol)
· Miscarriage (e.g. misoprostol)
· Contractions of the uterus (e.g. castor oil)
· Premature delivery.
· Sometimes problems can be delayed, e.g. stilboestrol given during pregnancy has showed problems with reproductive system during puberty of offspring.

Normally before a drug is released in the market, it is extensively tested – in the lab, on animals and finally on the target population (clinical trials). However, pregnant women and children are compulsorily excluded from such trials, which means that what ever data we have on the role of drugs in pregnancy, is case related and no pharmaceutical company or doctor can support with a foolproof guarantee, the safety of any drug used during pregnancy.

Another important fact to be borne in mind is that for a given medicine, it may be consumed during some part of the pregnancy, but can be hazardous during another part of the pregnancy. e.g. Ibuprofen, may be used with caution in the first or second trimester, but can cause bleeding or delivery problems or even heart problems in the baby if used near term.

Some genetic conditions are also caused by an interaction between the inherited genetic information and the environment such as diet and lifestyle factors. Such conditions are referred to as “multi-factorial” conditions. Examples of such birth defects include cleft lips and palate, hydrocephalus, spina bifida etc. A person will be affected by these conditions if their genetic information means that they are predisposed to the condition, and are exposed to the environmental factor that can “trigger” it. If exposure to the environmental trigger can be avoided, it may be possible to prevent the person being affected with the condition despite genetic make-up.

Some medicines have the ability to prevent or minimize the development of those multi-factorial conditions whose “environmental trigger” is now well known.

The most important ones, where the “trigger” is deficiency of folic acid (Vitamin B9) are:
- Spina Bifida.
- Anencephaly
- Cleft lip
- Cleft palate.

Spina bifida and anencephaly are problems with the development of the spine or brain. Together they are called Neural Tube Defects (NTDs).

Research has shown that 7 out of 10 cases of NTDs can be prevented by increasing the intake of the vitamin B9 (folate) or folic acid prior to and during early pregnancy. Folate is important in the growth and development of new cells and making DNA, especially embryos. It also helps to regulate the level of an amino acid called homocystine.

Folate in pregnancy also lessens the risk of cleft palate and cleft lip by 25 to 50%.

Now the question arises that how much folate is needed before and in early pregnancy?
For most women as a rule, it is necessary to have about 400 – 500 milligrams of folate each day. This can be obtained by eating a folate rich diet and/or taking a low dose folic acid tablet. However, folate will only help in preventing spina bifida or other NTDs if it is being taken at the time of conception and for the first twenty-eight days of pregnancy, or until the neural tube has completely formed. Therefore our advice is to use foloc acid supplements from ONE MONTH BEFORE planning a baby until THREE MONTHS into the pregnancy.

Foods rich in Folate:
- Leafy green vegetables, broccoli
- Wholegrain breads.
- Cereals
- Legumes (peas, dried beans and lentils, peanuts)
- Citrus fruits and juices.
- Asparagus, avocados.

Women are at increased risk if:
- They had a baby with Spina bifida, ancencephaly or other NTDs.
- They themselves have, or have had, a NTD.
- They have a close relative who has, or has had, a NTD.

These women should consult their doctor/foetal anomaly counsellor or genetic counsellor before pregnancy for advice regarding the amount of folate they should take.