Congenital anomalies are important causes of infant and childhood deaths, chronic illness and disability. Through the resolution on birth defects of the Sixty-third World Health Assembly (2010), Member States agreed to promote primary prevention and improve the health of children with congenital anomalies by:

developing and strengthening registration and surveillance systems

developing expertise and building capacity

strengthening research and studies on etiology, diagnosis and prevention

promoting international cooperation.

Figure 1. Causes of 2.68 million deaths during the neonatal period in 2015, worldwide

Definition

Congenital anomalies are also known as birth defects, congenital disorders or congenital malformations. Congenital anomalies can be defined as structural or functional anomalies (for example, metabolic disorders) that occur during intrauterine life and can be identified prenatally, at birth, or sometimes may only be detected later in infancy, such as hearing defects.

In simple terms, congenital refers to the existence at or before birth.

Causes and risk factors

Although approximately 50% of all congenital anomalies cannot be linked to a specific cause, there are some known genetic, environmental and other causes or risk factors.

Genetic factors

Genes play an important role in many congenital anomalies. This might be through inherited genes that code for an anomaly or resulting from sudden changes in genes known as mutations.

Consanguinity (when parents are related by blood) also increases the prevalence of rare genetic congenital anomalies and nearly doubles the risk for neonatal and childhood death, intellectual disability, and other anomalies.

Some ethnic communities (such as Ashkenazi Jews or Finns) have a comparatively high prevalence of rare genetic mutations such as Cystic Fibrosis and Haemophilia C.

Socioeconomic and demographic factors

Low-income may be an indirect determinant of congenital anomalies, with a higher frequency among resource-constrained families and countries. It is estimated that about 94% of severe congenital anomalies occur in low- and middle-income countries. An indirect determinant, this higher risk relates to a possible lack of access to sufficient, nutritious foods by pregnant women, an increased exposure to agents or factors such as infection and alcohol, or poorer access to healthcare and screening. Factors often associated with lower-income may induce or increase the incidence of abnormal prenatal development.

Maternal age is also a risk factor for abnormal intrauterine fetal development. Advanced maternal age increases the risk of chromosomal abnormalities, including Down syndrome.

Environmental factors

Maternal exposure to certain pesticides and other chemicals, as well as certain medications, alcohol, tobacco and radiation during pregnancy, may increase the risk of having a fetus or neonate affected by congenital anomalies. Working or living near, or in, waste sites, smelters or mines may also be a risk factor, particularly if the mother is exposed to other environmental risk factors or nutritional deficiencies.

Infections

Maternal infections such as syphilis and rubella are a significant cause of congenital anomalies in low- and middle-income countries.

More recently, the effect of in utero exposure to Zika virus on the developing fetus has been reported. In 2015, Brazil detected cases of Zika virus and a spatio-temporally associated increase in microcephaly. By 2016, Brazil reported that of 4180 suspected cases of microcephaly, 270 were confirmed, 462 were discarded and 3448 are still under investigation. This is compared to an average of 163 microcephaly cases recorded nationwide per year. With 6 of the 270 confirmed cases of microcephaly showing evidence of Zika infection, health authorities and agencies are investigating and conducting comprehensive research to confirm a causal link. Following the Zika outbreak in French Polynesia, health authorities reported an unusual increase in the number of congenital malformations in babies born between March 2014 and May 2015.

Maternal nutritional status

Maternal folate insufficiency increases the risk of having a baby with a neural tube defect while excessive vitamin A intake may affect the normal development of an embryo or fetus.

Prevention

Preventive public health measures work to decrease the frequency of certain congenital anomalies through the removal of risk factors or the reinforcement of protective factors. Important interventions and efforts include:

ensuring adolescent girls and mothers have a healthy diet including a wide variety of vegetables and fruit, and maintain a healthy weight;

ensuring an adequate dietary intake of vitamins and minerals, and particularly folic acid in adolescent girls and mothers;

ensuring mothers avoid harmful substances, particularly alcohol and tobacco;

avoidance of travel by pregnant women (and sometimes women of child-bearing age) to regions experiencing outbreaks of infections known to be associated with congenital anomalies;

reducing or eliminating environmental exposure to hazardous substances (such as heavy metals or pesticides) during pregnancy;

controlling diabetes prior to and during pregnancy through counselling, weight management, diet and administration of insulin when required;

ensuring that any exposure of pregnant women to medications or medical radiation (such as imaging rays) is justified and based on careful health risk–benefit analysis;

vaccination, especially against the rubella virus, for children and women;

increasing and strengthening education of health staff and others involved in promoting prevention of congenital anomalies;

screening for infections, especially rubella, varicella, and syphilis, and consideration of treatment.

Detection

Health care before and around the time of conception (preconception and peri-conception) includes basic reproductive health practices, as well as medical genetic screening and counselling. Screening can be conducted during the 3 periods listed:

Preconception screening can be useful to identify those at risk for specific disorders or at risk of passing a disorder onto their children. Screening includes obtaining family histories and carrier screening, and is particularly valuable in countries where consanguineous marriage is common.

Peri-conception screening: maternal characteristics may increase risk, and screening results should be used to offer appropriate care, according to risk. This may include screening for young or advanced maternal age, as well as screening for use of alcohol, tobacco or other risks. Ultrasound can be used to screen for Down syndrome and major structural abnormalities during the first trimester, and for severe fetal anomalies during the second trimester. Maternal blood can be screened for placental markers to aid in prediction of risk of chromosomal abnormalities or neural tube defects, or for free fetal DNA to screen for many chromosomal abnormalities. Diagnostic tests such as chorionic villus sampling and amniocentesis can be used to diagnose chromosomal abnormalities and infections in women at high risk.

Neonatal screening includes clinical examination and screening for disorders of the blood, metabolism and hormone production. Screening for deafness and heart defects, as well as early detection of congenital anomalies, can facilitate life-saving treatments and prevent progression towards some physical, intellectual, visual, or auditory disabilities. In some countries, babies are routinely screened for abnormalities of the thyroid or adrenal glands before discharge from the maternity unit.

Treatment and care

Many structural congenital anomalies can be corrected with paediatric surgery and early treatment can be administered to children with functional problems such as thalassaemia (inherited recessive blood disorders), sickle cell disorders, and congenital hypothyroidism (reduced function of the thyroid).

WHO response

The report accompanying the resolution of the Sixty-third World Health Assembly (2010) on congenital anomalies describes the basic components for creating a national programme for the surveillance, prevention and care of congenital anomalies before and after birth. It also recommends priorities for the international community to assist in establishing and strengthening these national programmes.

The "Global Strategy for Women's, Children's and Adolescents' Health, 2016-2030" aims to achieve the highest attainable standard of health for all women, children, and adolescents, to transform the future and to ensure that every newborn, mother and child not only survives, but thrives. Updated in 2015 through a process of collaboration with stakeholders led by WHO, the strategy builds on the success of the 2010 strategy and its "Every Woman Every Child" movement, which helped accelerate the achievement of the health-related Millennium Development Goals and will act as a platform to put women, children and adolescents at the heart of the new UN Sustainable Development Goals.

WHO is also working with the United States Centers for Disease Control and Prevention’s (CDC) National Center on Birth Defects and Developmental Disabilities and other partners, to establish a global policy for folic acid fortification at the country level. WHO is also working with partners to provide the required technical expertise for the surveillance of neural tube defects, for monitoring fortification of staple foods with folic acid, and for improving laboratory capacity for assessing risks for folic acid-preventable congenital anomalies.

The International Clearinghouse for Birth Defects Surveillance and Research is a voluntary non-profit international organization in official relations with WHO. This organization brings together congenital anomalies surveillance and research programmes from around the world, in order to investigate and prevent congenital anomalies and to lessen the impact of their consequences.

The WHO Departments of Reproductive Health and Research and Nutrition for Health and Development, in collaboration with the International Clearinghouse for Birth Defects Surveillance and Research and CDC’s National Center on Birth Defects and Developmental Disabilities, convene annual training programmes on the surveillance and prevention of congenital anomalies and preterm births. The WHO Department of HIV and AIDS collaborates with these partners, to strengthen the surveillance of congenital anomalies for women receiving antiretroviral drugs during pregnancy, as an integral part of the monitoring and evaluation of national HIV programmes.

GAVI, the Vaccine Alliance, of which WHO is a partner, is assisting low- and middle-income countries in improving control and elimination of rubella and congenital rubella syndrome through immunization.

WHO develops normative tools, including guidelines and a global plan of action, to strengthen medical care and rehabilitation services to support the implementation of the United Nations Convention on the Rights of Persons with Disabilities. Similarly, WHO supports countries to integrate medical care and rehabilitation services into overall primary health care, supports the development of community-based rehabilitation programmes, and facilitates the strengthening of specialized rehabilitation centres and their links with community-based rehabilitation.

The WHO Department of Public Health and Environment focuses on a number of activities, and defines interventions, to address the environmental and social determinants of child development. These include children’s unique vulnerabilities to polluted indoor and outdoor air, contaminated water, lack of sanitation, toxicants, heavy metals, waste components and radiation; combined exposures with social, occupational and nutrition factors; and the settings in which children dwell (home, school).

The current Zika virus outbreaks and their association with an increase in microcephaly and other congenital malformations have raised great concern across the world, particularly in the Americas. In 2016, WHO declared a Public Health Emergency of International Concern (PHEIC). In countries where there is spread of Zika virus and increased congenital malformations / neurological syndromes, a full range of response activities have been implemented. These include enhanced surveillance and outbreak response, community engagement, vector control and personal protective measures, care for people and families with potential complications, field investigations, and public health research towards better understanding risk and mitigation measures.