Birth defects in new born babies continue to be a worrying concern to health authorities with recent studies showing that the large percentage of these defects were preventable with planned pregnancies, avoidance of harmful drugs, healthy nutritious diets and controlling weight gain on the part of the pregnant mother.
The Sunday Observer spoke to Consultant Neonatologist of the University Neonatal Unit, de Soyza Hospital for Women in Colombo and Senior Lecturer, Department of Paediatrics , University of Colombo Dr. Nishani Lucas as to why, how and when these defects occurred during pregnancy and how most importantly they could be prevented.
Excerpts
Q: Sri Lanka has been commended as an example of a country that has done well in maternal and child health. Yet recent studies have revealed that birth defects (BD) remain a worrying concern. What are birth defects?
A: Birth defects are structural or functional abnormalities that are present at birth.
Q: When do these defects occur? Pre-natal or post-natal stage?
A: They can occur at any stage of the pregnancy before the baby is born. But the majority occur during the first three months of the pregnancy where organ formation takes place.
Q: What are the most common types of birth defects found in Sri Lanka?
A: Congenital heart disease and musculoskeletal disease are the commonest type of birth defects found in Sri Lanka.
Q: It has been said that more than 90% of these babies are in low-and middle-income countries and that every day 16 children are born with birth defects in Sri Lanka. Studies have also shown that out of the 360,000 annual births in Sri Lanka, around 5,800 children are born with birth defects. What is the current percentage of new borns with birth defects in latest studies?
A: A study in Mahamodara Hospital, Galle in 2012 reports an incidence of 4.3 percent, whereas a study in Sri Jayewardenapura Hospital from 2015-2017 reports an incidence of 2.6 percent.
Q: According to a report In Sri Lanka, while around 360,000 pregnancies are registered every year, approximately 328,000 babies are born alive. Out of them, 5,800 are born with a birth defect; 30% of whom have a severe defect that affects their day to day life. Your comments.
A: The study done in Sri Jayawardenapura Hospital showed that 1.2% had severe birth defects from the 2.6 percent babies with birth defects amounting to 46 percent.
However, this study was done in a single tertiary care hospital which receives referrals from many parts of Sri Lanka, resulting in higher numbers of babies with severe birth defects.
Thereby, the proportion of severe birth defects is probably lower. Nationwide birth defect surveillance was started more recently and would provide national statistics in the near future.
Q: What are the main underlying causes for birth defects in general and in Sri Lanka in particular?
A: The Centres for Disease Control and Prevention ( CDC ) has listed genetic defects (Down syndrome and other Syndromes), mouth and facial defects (cleft lip and/ or palate), heart defects, musculoskeletal defects, gastrointestinal defects and eye defects as six most common defects in decreasing order of frequency.
The study at the Mahamodara Hospital, Galle in 2014 found musculoskeletal defects to be the commonest, with gastrointestinal, genitourinary, cardiovascular and nervous system defects in decreasing order of frequency, while the study done at Sri Jayewardenepura Hospital, Colombo from 2015-2017 found cardiovascular defects to be the commonest with musculoskeletal, genetic defects, genitourinary defects and eye/ear/neck defects decreasing order of frequency.
Q: Since many women today get married late putting their career first, and decide to have a child in their thirties what are the chances of these women having a brain damaged child? What is the ideal age for a woman to become pregnant to minimise such risks?
A: Birth defects due to genetic disorders are commonly due to chromosomal abnormalities that occur when the egg (maternal origin) or sperm (paternal origin) contains the wrong number of chromosomes.
The risk of genetic damage in eggs and sperms increases after the age of 35 years. Increased age is not only relevant to the women as genetic damage is seen in both sperm and eggs. The ideal age to have children has been reported as 25-35 years for men and women.
Q: What about alcohol, drugs, and tobacco during and after pregnancy?
A: Alcohol, street drugs and tobacco should be avoided during pregnancy and when hoping to get pregnant as it can cause loss of the pregnancy or serious damage to the baby by crossing the placenta. Organ formation of the baby occur during the first 8 - 12 weeks of pregnancy (first trimester). Therefore, consumption of alcohol, street drugs and tobacco during this period has the highest risk of causing structural damage leading to birth defects.
Q: What about the impact of these drugs on the infant when breast feeding?
A: They should be avoided all costs while breastfeeding as its harmful effects cross over to the baby through breast milk.
Q: I’m told that pregnant women must be cautious when taking certain medications, which are normally safe, but can cause serious birth defects when taken by a pregnant woman. Your comments?
A: I agree. Pregnant women should not take any medication without checking its safety with their doctor. Many medications that are otherwise safe for both children and adults can be harmful to the developing fetus.
Q: We are at present in the midst of the Covid-19 pandemic with the added fear of new more deadly variants entering the country. Do you consider pregnant mothers to be more vulnerable to these viruses than those who are not pregnant?
A: Pregnant women are not known to be more vulnerable to Covid-19 but are more likely to get severe disease if infected (WHO/CDC).
Q: If the mother gets Covid-19, will it affect her foetus? How?
A: Covid-19 during pregnancy increases the risk of preterm delivery. It may also cause hypoxic injury to the fetus in case of severe disease resulting in hypoxia of the mother.
Q: What is the usual procedure in detecting birth defects in a pregnant mother?
A: Structural anomalies are detected by antenatal ultrasound imaging done around 20-weeks-gestation during the second trimester (13 – 28 weeks). Suspicion of cardiac disease in the fetus on antenatal ultrasound is further investigated with antenatal fetal echocardiography. The fetus is screened for chromosomal anomalies and congenital infections by testing maternal blood in selected instances when clinically indicated.
Q: Can they be prevented if detected while still in foetal stage?
A: Birth defects can be prevented by taking pre-conceptional folic acid when planning a pregnancy by minimising the chance of neural tube defects which is a birth defect of the nervous system.
They can also be prevented by avoiding alcohol, tobacco, street drugs when planning a pregnancy and during the pregnancy. Avoiding raw foods and non-prescription medications when planning a pregnancy and during the pregnancy can also prevent birth defects.
The safety of all prescription medications should be checked with you doctor if planning pregnancy or if pregnant. Additionally, maintaining a healthy weight and keeping diabetes under control will also help to reduce birth defects.
Q: The best age for a couple to plan their family?
A: The chances are that if a pregnancy is planned when both mother and father are between 20 – 34 years it would reduce the chance the birth defects.
Q: Any other precautions they should take to minimise infections causing birth defects?
A: Following is a list of infections that could occur and should be avoided listed by the CDC:
Cytomegalovirus – could be avoided by reducing contact with saliva and urine of young children.
Toxoplasmosis – avoided by not handling cat litter
Lymphocytic choriomeningitis virus - staying away from rodent droppings
Listeria - avoiding raw milk and soft cheese(feta, brie etc)
Rubella - vaccination prior to pregnancy
HIV, hepatis B, syphilis - getting tested and practising safe sex.
Once a birth defect has occurred secondary prevention is less effective. Fetal surgical intervention is done for some urogenital disorders where a fetal medicine specialist is available in the state sector in Sri Lanka. Most interventions for birth defects are carried out after birth. All newborns are screened by doing a neonatal examination within 24 hours of birth. They further undergo screening tests for congenital hypothyroidism, critical congenital heart disease and congenital hearing loss.
Q: Treatment?
A: Almost half of the birth defects are severe defects where most structural defects require major surgery after birth most functional defects will require lifelong treatment or supportive care.
All these services are carried out in the state sector hospitals.
Q: Do we have genetic counsellors to advise mothers ?
A: Yes, we have. All parents who given birth to babies suspected or confirmed of genetic defects are referred for genetic counselling.
Q: Can birth defects be prevented with vaccines?
A: Yes, some birth defects which are caused by specific infections can be prevented by vaccines like MMR which prevents congenital rubella syndrome. Also, tetanus vaccine taken during pregnancy reduces the chance of the baby getting tetanus infection.
Q: For mothers of children born with cleft palate do you have special instructions as to how they should bathe and feed the children?
A: There are no special ways to bathe the child. Babies born with a cleft palate will be assessed with regard to the ability to breastfeed soon after birth.
Most babies with cleft palate are able to breastfeed their baby as the breast obliterates the cleft.
Few babies with a large cleft palate may need a special obliterator prescribed by the orthodontic team to obliterate the cleft.
Mothers are supported and trained to feed their babies before discharge. It is important to ensure that baby gets good nutrition in preparation for a successful corrective surgery for cleft palate which is done around 9-12 months of age.
Q: Food - What kind of food and drinks should a pregnant woman take?
A: A woman who wants to get pregnant or is pregnant is free to eat or drink any food or drink except raw food, alcohol, tobacco and street drugs. Medicines should only be taken after consulting a doctor about its safety in pregnancy. Seeing or working with children with birth deformities do not cause birth deformities in pregnant mothers.
Q: Myths and superstitions that need to be debunked regarding birth defects?
A: One superstition is that a pregnant woman who sees or is working with children with birth deformities will result in deformities in her unborn child. This is completely false. Just seeing or working with deformed children won’t lead to the birth of a deformed baby.
Q: Your message to pregnant women and women waiting for the right time to have a baby?
A: Avoid alcohol, tobacco, street drugs, raw food and non-prescription medication if planning to get pregnant. Get medical advice on prescription drugs if planning to get pregnant. Start taking folic acid if planning a pregnancy.
Taking these measures after you know that you are pregnant may be too late to prevent birth defects as organ malformation occurs during the first three months of pregnancy.