Anomalies at birth largely preventable | Sunday Observer

Anomalies at birth largely preventable

Package of multi services to reduce birth defects available to mothers at Health Ministry :

Having a baby with birth defects can be an agonizing experience to any mother, especially, one who has waited for a long time to have a child. Birth defects, also named congenital anomalies, are structural or functional anomalies, which occur during pregnancy and can be identified before birth, at birth, or later in infancy. All of them occur at the conception and thereafter in the uterus. Many of them do not survive. They may be lost as miscarriages in early pregnancy or as stillbirths in the latter part of pregnancy. Those foetuses that survive are born with a defect. Causes vary from genetic to environmental related causes while most of them ( around 60 % ) are multifactorial in origin.

Apart from prematurity and other complications of pregnancy as the leading cause of infant and neonatal mortality, birth defect is the second leading cause of such deaths.

The heartening news is that the Health Ministry now offers a package of services to halt this dangerous trend.

The Sunday Observer spoke to the National Program Manager Maternal and Child Mortality Surveillance, Dr Kapila Jayaratne seeking why and how birth defects occur, how to recognize signs at early stages and most importantly, how they can be prevented.

Excerpts from the interview…

Q. Sri Lanka has a good track record as one of the lowest infant and maternal mortality rates in South Asia, if not the world. Yet, it has been found that birth defects and pre term births continue to be a problem of concern to health officials. Your comments?

A. Only 8 infants die when 1,000 babies are born alive in Sri Lanka. Similarly, 34 women die due to pregnancy related causes when 100,000 babies are born alive. These are impressive indicators at regional and international level. This is again prominently highlighted in two recent reports released by UNICEF and World Bank. The UNICEF report “Every Child Alive - The urgent need to end newborn deaths” praises Sri Lanka for its very low newborn mortality, rating number 1 in Low and Middle Income countries. It further says, “In Kuwait and the United States of America, both high-income countries, the newborn mortality rate is 4. This is only slightly better than lower-middle-income countries such as, Sri Lanka where the newborn mortality rate is 5.” The World Bank’s Universal Health Coverage Study Series also showcase Sri Lanka’s long track record of strong performance of health system.

Q. Yet, birth defects continue to be a subject of serious concern. Why?

A. We have reduced a majority of infant deaths and stillbirths due to many preventable causes. It is not that deaths due to prematurity or birth defects have increased. With the reduction of deaths, the relative significance of deaths due to such causes have emerged as sizeable proportions. National data shows a 7% of premature births out of 331,000 live births and 18% birth defects attributable to infant deaths. However, further reductions in these deaths necessitate micro-level approach.

Q. What exactly do you mean by birth defects? Are they visible?

A. Birth defects, also named congenital anomalies, are structural or functional anomalies, that occur during pregnancy and can be identified before birth, at birth, or later in infancy. Examples of structural defects (congenital malformations) are: congenital heart defects, spina bifida, cleft lip or palate, limb deficiency, hypospadias, club foot, Down syndrome, congenital rubella syndrome, congenital Zika syndrome, fetal alcohol syndrome. Examples of functional defects are: metabolic diseases, hypothyroidism, congenital adrenal hyperplasia, thalassemia, sickle cell disease, cystic fibrosis, cerebral palsy, muscular dystrophy, deafness, autism.






















Dr Kapila Jayaratne

You will appreciate that it is a heterogeneous group of conditions. Not a single entity.

Q. Are all birth defects severe from inception?

A. . Not really. It is a spectrum. They can be divided into three groups. Mild if defects, (such as extra fingers, congenital dislocation of the hip or undescended testis) do not require medical intervention but life expectancy is good -majority of the cases fall into this category. Severe if the defects, (such as cleft lip, some heart diseases or congenital pyloric stenosis) if not corrected can cause handicap or death. Lethal if the defects (such as anencephaly or certain heart diseases) cause stillbirth or neonatal/infant death.

Q. What are the trigger factors?

A. As types of birth defects are different, the causes for each category are different, and can be divided into three main groups:

Genetic which includes defects in chromosomes at gene level (e.g. Down syndrome) and Mendelian single-gene defects (e.g. achondroplasia or Holt-Oram syndrome). Genetic causes contribute to birth defects in about 25 % of total cases.

Environmental causes include factors influencing externally to the foetus. These include infectious diseases (e.g. rubella), maternal diseases (e.g. diabetes mellitus or diseases with high fever), teratogenic drugs, alcohol, smoking and environmental pollutants. The proportion of environmental origin may be about 15% of total birth defects.

Multifactorial (or complex) group is caused by gene-environmental interactions. Usually, predisposed individuals are triggered by environmental ‘risk’ factors. Most common birth defects (such as neural-tube defects, Face or mouth clefts, heart diseases, congenital pyloric stenosis, congenital dislocation of the hip, undescended testis, hypospadias, etc) belong to this category. A majority of birth defects (about 60%) are of Multifactorial origin.

Q. Why are birth defects so important that a special World Birth Defects Day which we recently observed, has been set aside for it?

A. Every year, millions of babies around the world are born with a serious birth defect. In many countries, birth defects are a leading cause of death in babies and young children. Babies who survive and live with these conditions are at an increased risk for long-term disabilities and other health problems. Giving birth to a baby with a birth defect is devastating to parents. It may result in major psychosocial impact not only on the individual but on all family members. The effects are felt beyond the family. They pose a burden to society and to the healthcare system.

Q. Are these defects and deaths preventable?

A. Birth defect as an entity is largely preventable. The present scientific evidence confirms that the major part of them (85%) are preventable. Many developed countries have successfully reduced deaths due to birth defects using multiple prevention strategies. These are applicable in Sri Lankan settings also. Apart from prematurity and other complications of pregnancy as the leading cause of infant and neonatal mortality, birth defect is the second leading cause of such deaths. Nearly 550 out of 2,700 infant deaths are due to anomalies at birth. Every year around 5,500 to 6,000 babies are born with a defect. This is a big burden to the healthcare system, families and society. That is why we are focusing on birth defects.

World Birth Defects Day Charter Organizations include; International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), March of Dimes (MOD), CDC - Centers for Disease Control and Prevention and a number of other international organizations. Family Health Bureau, The Perinatal Society of Sri Lanka and Health Education Bureau joined hands with the above organizations to celebrate WBDD this year on March 3.

Q. What are the commonest types of birth defects in our country?

A. We, at Family Health Bureau, did a survey in Sri Lanka in selected provinces to report a prevalence of 1.8% at birth. When you extrapolate this rate to 331,000 live births reported in the country in a year, it comes to nearly 6,000 babies.

Different types of congenital heart diseases are the leading cause of birth defects. Then comes limb defects, nervous system abnormalities (anencephaly, neural tube defects etc.) and genetic disorders such as Down syndrome.

Q. What were the most important aspects highlighted in terms of preventing birth defects relevant to Sri Lanka?

A. Causality of birth defects are multitude. Different birth defects do not represent a single pathological entity and therefore, there is no single strategy for their prevention. The prevention of birth defects include three preventive strategies; primary, secondary and tertiary.

In primary prevention, we focus on preventing the occurrence of birth defects -especially, avoiding risk factors and educating women and families. Maternal nutrition plays a big role in preventing birth defects. Proper food intake especially, Folic Acid prior to and in early weeks of pregnancy prevents neural tube defects, heart disease and cleft lip or palate. Maternal obesity causes heart disease in foetuses. If pre- pregnancy optimal weight is achieved for the height of the woman, these can be reduced. Appropriate immunization and avoidance of teratogenic medication, consanguineous marriages and substance abuse have shown to reduce several birth defects.

The Secondary prevention involves early capture of cases and proper management. Many of the birth defects, cleft lip/palate, limb deformities and heart diseases are successfully corrected even in Sri Lanka. There are specific investigations to pick these birth defects.

Disability limitation and rehabilitation are main areas in Tertiary prevention approach. This ensures complete recovery of birth defects by early intervention without residual defects or minimal after effects.

Q. How do you identify birth defects?, through Xrays? Scans?

A. Because of heterogeneity, capture of birth defects are not easy. Different types of birth defects necessitate different screening tests. A combination of scientific disciplines now yield some understanding of how these mishaps occur; means of detecting some of them prenatally, at even earlier stages of development.

A Foetal anomaly scan is usually done during 18 – 20 weeks of gestation. This ultrasound scan is mostly accurate but does not diagnose all birth defects. With an anomaly scan, we can pick up at least 95% of cases of spina bifida, 80% of cases of cleft lip or palate, and 60% to 70% of cases of congenital heart disease. This scan can also identify 50% to 70% of cases of Down syndrome.

Q. Are there blood tests that can also show an inherited disease?

A. There are specific blood tests that can be done in the mother e.g. Alpha-fetoprotein Carrier tests—These screening tests can show if a person carries a gene for an inherited disorder e.g. Thalassaemia. Carrier tests can be done before or during pregnancy. There are some diagnostic tests as well. These tests can provide information on whether the fetus has a genetic condition and are done on cells obtained through amniocentesis, chorionic villus sampling, or, rarely, fetal blood sampling. The cells can be analyzed using different techniques. Amniotic fluid is the fluid that surrounds and protects a baby during pregnancy. This fluid contains fetal cells and various chemicals produced by the baby. In Amniocentesis, amniotic fluid is removed from the uterus for testing. Usually, Xrays are not done to detect birth defects. But, there are rare situations.

Q. Is age a critical contributory factor for the birth defects you just mentioned?

A. Age is a critical component of the case detection. Some birth defects appear later in life, especially, for conditions involving internal organs that may not be evident at birth. Nearly 60% of all major congenital anomalies are diagnosed during the first week of life, nearly 70% by the first month, nearly 90% by the first year, and almost 100% by the sixth year. Continuous alert during the course of life is crucial in picking birth defects.

Q. How high is the risk of older mothers ( above 35) giving birth to babies with birth defects like Down syndrome, etc?

A. Women aging more than 35 years who had given birth to higher number of children, have an increased risk of birth defects. This is an important implication considering that nearly 15.5% of all live births occurring in Sri Lanka are to women over 35 years. Maternal age greater than 35 years increases the risk of Down syndrome (extra chromosome number 21) and other chromosomal problems in the baby. There is a gradual increase in chromosome problems with increasing age. Women in advanced age are more prone to get diabetes and obesity which in turn may predispose to several categories of birth defects like heart disease and nervous system defects.

Q. What about hereditary or genetic factors? What percentage do they play in birth defects? Can similar traits be passed on from parent to child?

A. Hereditary or genetic disorders are caused by defective genes. These disorders are passed down by parents to their children. Some inherited disorders are more common in certain races and ethnic groups, such as G6P enzyme deficiency, Thalassaemia, and sickle cell disease. The risk of hereditary disorder is higher when certain factors are present. Women are at increased risk if they have a genetic disorder, already have a child who has a genetic disorder, there is a family history of a genetic disorder or they belong to an ethnic group that has a high risk of certain genetic disorders. The global prevalence of genetic diseases at birth is approximately 10 per 1,000 births.

Q. What is the role of the National Program Manager Maternal and Child Mortality Surveillance Unit?

A. We started birth defects surveillance country-wide in June 2017. This is a hospital-based system. We have nearly 80 specialized hospitals in this network. All birth defects detected during antenatal period up to the age of 2 of the baby are reported to our unit. Obstetricians, neonatologist and paediatricians readily contribute to the data collection. We implement this based on World Health Organization guidelines. Many countries in the region have no systematic birth defects surveillance at national level. Our surveillance mechanism runs both paper and web-based. Last year we formulated guidelines and distributed equipment to conduct pathological post-mortems in stillbirths and infant deaths. This is to know the exact cause of death, and help in capturing birth defects cases.

Q. What steps has the Health Ministry and the Family Health Bureau taken in this regard?

A. A multitude of services focusing on prevention and control of BDs are available in Sri Lanka:

1. Package of preconception care for newly married couples,

2. Maternal care Package that comprised peri-conceptional folic acid, iron, folic acid supplementation for pregnant and lactating women and antenatal syphilis screening,

3. Rubella vaccination

4. Diagnostic and interventional cardiac catheterizations and paediatric cardiac surgeries,

5. Reconstructive Surgeries for cleft lip / palate,

6. Care for the Thalassaemic children,

7. Salt and Wheat flour fortification and

8. Availability of a spectrum of Genetic Services.

Q. As the National Program Manager Maternal and Child Mortality Surveillance what can you say about the success in achieving those goals so far?

A. We are working hard to prevent babies born with birth defects and to optimally care for the affected babies. With the birth defects surveillance, we can capture cases, know the burden, locate areas that need more focus, project for the future care needs and reorient the health services. There is a multitude of stakeholders, public health midwives, medical officers of health, obstetricians, neonatologists, paediatricians, pathologists, public health specialists, surgeons, geneticists, etc.. You know about the “Little Heart Project” -specifically addressing children with heart disease. Reconstructive surgeries for cleft lips or palate are done at specialized centres. No congenital rubella syndrome case was reported over the last few years. Genetic services are available. Now we are taking steps to expand them. However, the quantity and quality of services needed to be provided for dealing with birth defects poses a major challenge to the health system of the country, considering the ever increasing demand and diversity of care needed.

Q. Is there a strategic Plan in place for the future?

A. Yes. We developed a Birth Defects Prevention and Control Plan for the country in the year 2014. It covers almost all areas on prevention of such disease entities. It emphasizes the need for coordinated approach with multi sector involvement.

Q. In the event of a severe abnormality in the womb do you think the mother should be allowed to abort the fetus ? There has been some controversy over the legality of this issue? What is your opinion?

A. We are lobbying for relaxation of the existing law in cases of lethal congenital abnormalities. Defects such as anencephaly are diagnosed as early as 18 weeks of pregnancy. We are pretty sure the baby is not going to survive. Both baby in utero, mother, living children and the entire family suffer for the rest of the period of gestation up to 40 weeks. It is also a burden to the health system in caring for them. I think those who want ending pregnancy in such situations, should be offered that option. Some argue about the right of the foetus. I believe, the right of the living mother and the children should be respected over the right of the unborn.

Q. What is your take home message to women, families and general public ?

A. . Plan your pregnancy well ahead. Go for pre-conceptional counselling. Achieve optimum weight for height. Seek specialized care if you have any other illnesses. Take folic acid well before conceiving and continue. Conceive at early age. Register before 8 weeks of gestation. Comply with medical advice before and throughout pregnancy.

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