Alleviating the Global Burden of Birth Defects - World Birth Defects Day, March 3

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Alleviating the Global Burden of Birth Defects

World Birth Defects Day, March 3

Birth Defects Insights, a Teratology Society Blog

By Marcia L. Feldkamp, PA, PhD & Vijaya Kancherla, MS, PhD

This blog is also available and LinkedIn. Please read and share!

March 3rd marks World Birth Defects Day. Birth defects are a daily reality for many families. The stigma associated with birth defects is a world-wide issue. At the same time, people with birth defects have independently excelled in many fronts with their resolve and persistence. As scientists in the field of birth defects research, we are on a constant quest to learn more about birth defects: what causes them, how to track and prevent them, and how to best improve the lives of those born with birth defects. The momentum we have now for birth defects is phenomenal. This World Birth Defects Day, our focus is on how to alleviate the global burden of preventable birth defects in the 21st Century. Birth defects prevention is still very much a critical public health topic—one that’s not often prioritized as much as other childhood health issues.

Birth defects can manifest in a variety of forms. Defects can be due to an abnormal formation of the embryo leading to structural changes at birth. They can be present before birth, at birth, or can be diagnosed later in life. Some defects can be easily visible, while others can occur internally (for example, a heart defect). Birth defects occur mostly during the first three months of pregnancy (first trimester), when the organs and tissues form. Some defects can include abnormality of function, such as metabolic conditions. Environmental exposures in early pregnancy that may increase the risk of birth defects include chemicals and toxins, medications, and infections. Other issues such as poor maternal nutrition, risky health behaviors (e.g., smoking cigarettes, alcohol abuse, recreational drugs), and/or not receiving preventive vaccines are also known to increase the likelihood of birth defects.  Some of these exposures can even impact a human fetus during the later stages of pregnancy (e.g., the brain continues to develop throughout pregnancy and is vulnerable to harmful exposures for the entire pregnancy.) Birth defects can also be caused by genetic or chromosomal abnormalities (such as trisomy 21, also known as Down syndrome). An exposure to a single harmful agent may cause a birth defect, though it is thought that several birth defects are likely due to a combination of environmental and genetic factors. Still, we have yet to determine the exact cause for many defects.

On this 5th anniversary of World Birth Defects Day we want to promote awareness about birth defects and to encourage prevention wherever possible. In this spirit, and as birth defects researchers, we want to bring birth defects to the forefront of the discussion on maternal and child health issues. Birth defects cannot be under-prioritized or ignored; they are common, costly, and critical.

  • Common: March of Dimes Global Report on Birth Defects estimates that almost 8 million children (6% of total births worldwide) are born with a serious birth defect each year. This figure does not include those fetuses that are stillborn or result in a spontaneous or elective pregnancy termination due to a birth defect. It is important to understand that the global burden number is only an estimate, and the true burden is expected to be much higher than what is estimated. The most common birth defects are heart defects, neural tube defects, and Down syndrome.
  • Costly: The costs to care for a child vary by country. In the USA, it has been estimated that the 2013 hospitalization costs for people with birth defects was 23 billion dollars. This estimate does not include the added costs for specialized care, parental loss of work to care for a child, or the emotional costs on all members of a family. With improved care in developed countries, the lives of infants and children have been extended well into adulthood, increasing the overall lifetime costs of caring for someone born with a birth defect.
  • Critical: Some birth defects increase the risk of death during infancy and early childhood. For example, the WHO estimated that each year, over 300,000 babies die within 4 weeks of birth due to birth defects; and 17-43% of all deaths in children under age 1 year could be attributed to birth defects. Birth defects are also associated with chronic illness and lifelong disability. Overall, they pose significant burden on not only those affected but their families and health care systems.

The true global burden of birth defects is unknown. Once a baby is born with a birth defect, the family must accept the responsibility of caring for their child, seek appropriate medical care, and care for their other children and family members. Society in many instances does not provide necessary support and opportunities for those with birth defects. Care-related issues persist throughout life, and this becomes even more evident as we see that more and more children with birth defects are successfully reaching adulthood. Available medical care and the daily care of a child or an adult with a birth defect will be very different if a family resides in a developed versus a developing country. To this day, many children born with a birth defect are shunned in developing countries due to lack of awareness, political will, or other support systems. 

There are still major gaps in birth defects surveillance and research in low- and middle-income countries

Many countries in the developing world do not have an infra-structure to count pregnancies affected by birth defects in the population. Unfortunately, birth defects tend to be more common in these same regions with low education, poverty, lack of prenatal care, undernutrition, low rates of immunization, consanguinity (i.e., where parents are blood-related), and persistent high-risk behaviors during pregnancy. Governments in these countries are not motivated to invest in birth defects surveillance as they do not see it as a priority. Birth defects are lost from the sight of policy makers as they end in stillbirths, or affected babies die soon after birth due to lack of early surgical and medical care. Research on birth defects is also limited in low- and middle-income countries due to the same reasons mentioned above. The recent concept of “triple surveillance”, where there is an investment in not only measuring the occurrence of birth defects in the population, but adding on surveillance of associated factors (e.g., nutritional deficiency in women), and health outcomes (e.g., mortality associated with a birth defect) can lead to better outcomes in birth defects.

Prevention requires quality research endeavors and effective healthcare policies

There is a need for high-quality birth defects research to investigate suspected factors that may be associated with specific birth defects. Primary prevention, meaning preventing birth defects before they even occur, requires knowing the factors that can cause or reduce birth defects, and understanding how to best address these factors and implement prevention programs in the population. Understanding whether a prevention activity is of value in a given population requires regular population-based surveillance of birth defects. Countries also will need strict implementation and evaluation of the prevention programs. Where there are effective evidence-based healthcare policies along with financial and regulatory support from the governments, it is shown that the burden of birth defects is reduced.

Some birth defects can be prevented immediately with available interventions

Of the many birth defects that occur globally, some are immediately preventable because we already know how to prevent them. We have proven and cost-effective solutions that can prevent major and common birth defects. For example, congenital rubella syndrome can be prevented by giving girls and young women rubella vaccine before they are pregnant. Fortifying staple foods with folic acid and iodine will also prevent neurological birth defects. Educating women about the risks of consuming alcohol during pregnancy and providing prenatal counseling can reduce fetal alcohol syndrome in their babies. Some cases of Down syndrome can be prevented by societies supporting women to plan their pregnancy at a younger age in developed countries and improving prenatal screening and counseling. Limiting the use of teratogenic medications (that is, medications that are associated with birth defects) during pregnancy is another important way to intervene. Screening and treating maternal health conditions like diabetes, hypertension, and infections, before and during early pregnancy will also reduce the occurrence of birth defects.

Monitoring trends in global birth defects prevalence offers an informed look at current risks

The presence of birth defects in a community is a dynamic phenomenon to some extent. Countries need to constantly track birth defects to establish a baseline, develop public health interventions so as to prevent them when possible, and provide care and services to those affected. As we gain more information about the risk and preventive factors, birth defect trends change. Over recent decades, as more women in developed countries are delaying their pregnancies, we are noticing an increase in the prevalence of babies born with Down syndrome. Changes in environment and infectious agents (e.g., mosquitoes) has recently resulted in an epidemic of Zika-related microcephaly. On the upside, as more and more countries fortify staple foods or grains with folic acid, iodine, and other important nutrients, we are seeing a decrease in birth defects associated with maternal nutritional deficiencies (e.g., folic acid fortification of wheat and maize products has resulted in a marked reduction of neural tube defects in many countries). With the world in constant flux, observing changes in global trends in birth defects, and taking timely action to address issues, is both a public health challenge and a necessity.

In most developed countries, ultrasound and maternal blood and serum screening are commonly used to perform prenatal screenings for abnormal development. Prenatal screening can pick up birth defects related to genetic or chromosomal abnormalities, or those such as heart and neural tube defects. Abnormal screening results are followed up with confirmatory diagnostic procedures like chorionic villus sampling and amniocentesis. Many low- and middle-income countries, however, lack funds and facilities to offer such birth defect screening or diagnosis prenatally. This discrepancy needs to be addressed to close the global disparity on birth defects occurrence. Prenatal screening helps parents/families to prepare for the birth of their baby that may have birth defects and associated disabilities later in life.

Care and advocacy for those living with birth defects should be prioritized

Care and rehabilitation for those with birth defects is often ignored. Quality of life for those with birth defects is largely dependent on the severity of the defect. Economic status of the countries also plays a role in the quality of care. Disparities in care and quality of life of those with birth defects a serious concern worldwide. Many babies with birth defects die soon after birth in developing countries due to lack of needed medical care or resources. Those babies who survive after birth are sometimes mistreated and stigmatized by the community. Many children born with birth defects do not receive education, sufficient medical care, or gain employment. Global awareness for birth defects and the needs of those with birth defects is still lacking. With adequate support and care, people with birth defects can be successful and fully contributing members of the society. Countries should strive towards making birth defects prevention a global priority, while not forgetting that those individuals with birth defects are an integral part of the society.

In conclusion, this #WorldBDday March 3 and every day, we and our colleagues would like to encourage everyone to educate the general public, local politicians, and government agencies about birth defects. The louder we are as we communicate #ManyBirthDefects1Voice, the greater potential we have in reaching out to policy makers and systems that can improve outcomes for birth defects.


About the Authors

Marcia Feldkamp, PA, PhD, developed an interest in birth defects epidemiology while working as a physician assistant and caring for women of reproductive age. Due to the limitations of existing data in Utah, Dr. Feldkamp led the efforts to develop a clinically based birth defects surveillance system in Utah to provide necessary data to conduct research to improve our understanding of pathogenesis and etiology. Dr. Feldkamp is a Research Professor in the Division of Medical Genetics, Department of Pediatrics at the University of Utah.

Vijaya Kancherla, MS, PhD, completed her PhD in epidemiology at the University of Iowa and then went on to the Pierre Decouflé Post-Doctoral Fellowship at the CDC National Center on Birth Defects and Developmental Disabilities. Currently Dr. Kancherla is a Research Assistant Professor at the Rollins School of Public Health at Emory University. Dr. Kancherla was introduced to the study of birth defects early in her doctoral program and instantly recognized the need and impact of this field.

About the Teratology Society

To understand and prevent birth defects and disorders of developmental and reproductive origin, the Teratology Society promotes multi-disciplinary research and exchange of ideas; communicates information to health professionals, decision-makers, and the public; and provides education and training. Scientists interested in or already involved in research related to topics mentioned in this blog are encouraged to join the Teratology Society and attend the 59th Annual Meeting June 22 – 26, 2019, the premier source for cutting-edge research and authoritative information related to birth defects and developmentally-mediated disorders. Teratology Society members include those specializing in cell and molecular biology, developmental biology and toxicology, reproduction and endocrinology, epidemiology, nutritional biochemistry, and genetics, as well as the clinical disciplines of prenatal medicine, pediatrics, obstetrics, neonatology, medical genetics, and teratogen risk counseling. In addition, the Teratology Society publishes the scientific journal, Birth Defects Research.  Learn more at Find the Teratology Society on LinkedIn, Facebook, and Twitter


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