Congenital anomalies
Fact sheet N°370
Updated April 2015
Key facts
An estimated 276 000 babies die within 4 weeks of birth every year, worldwide, from
congenital anomalies.
Congenital anomalies can result in long-term disability, which may have significant
impacts on individuals, families, health-care systems and societies.
The most common severe congenital anomalies are heart defects, neural tube defects and
Down syndrome.
Although congenital anomalies may be genetic, infectious, nutritional or environmental
in origin, most often it is difficult to identify the exact causes.
Some congenital anomalies can be prevented. For example, vaccination, adequate intake
of folic acid or iodine through fortification of staple foods or provision of supplements,
and adequate antenatal care are keys for prevention.
Congenital anomalies are important causes of childhood death, chronic illness and disability in
many countries. In 2010, the World Health Assembly adopted a resolution on birth defects
calling all Member States 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.
Fig. 1. Causes of 2.761 million deaths during the neonatal period in 2013, worldwide
Source adapted from WHO 2000-2013 child causes of death
Definition
Congenital anomalies are also known as birth defects, congenital disorders or congenital
malformations. Congenital anomalies can be defined as structural or functional anomalies (e.g.
metabolic disorders) that occur during intrauterine life and can be identified prenatally, at birth
or later in life.
Causes and risk factors
Although approximately 50% of all congenital anomalies cannot be linked to a specific cause,
there are some known causes or risk factors.
Socioeconomic and demographic factors
Although low income may be an indirect determinant, congenital anomalies are more frequent
among resource-constrained families and countries. It is estimated that about 94% of severe
congenital anomalies occur in low- and middle-income countries, where women often lack
access to sufficient, nutritious food and may have increased exposure to agents or factors such as
infection and alcohol that induce or increase the incidence of abnormal prenatal development.
Further, advanced maternal age increases the risk of chromosomal abnormalities, including
Down syndrome, while young maternal age increases the risk of some congenital anomalies.
Genetic factors
Consanguinity (when parents are related by blood) increases the prevalence of rare genetic
congenital anomalies and nearly doubles the risk for neonatal and childhood death, intellectual
disability and other anomalies in first-cousin unions. Some ethnic communities (e.g. Ashkenazi
Jews or Finns) have a comparatively high prevalence of rare genetic mutations, leading to a
higher risk of congenital anomalies.
Infections
Maternal infections such as syphilis and rubella are a significant cause of congenital anomalies in
low- and middle-income countries.
Maternal nutritional status
Iodine deficiency, folate insufficiency, obesity and diabetes mellitus are linked to some
congenital anomalies. For example, folate insufficiency increases the risk of having a baby with
a neural tube defect. Also, excessive vitamin A intake may affect the normal development of an
embryo or fetus.
Environmental factors
Maternal exposure to certain pesticides and other chemicals, as well as certain medications,
alcohol, tobacco, psychoactive drugs 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, especially if the mother is exposed to other
environmental risk factors or nutritional deficiencies.
Prevention
Preventive public health measures delivered through health services decrease the frequency of
certain congenital anomalies. Primary prevention of congenital anomalies includes:
improving the diet of women throughout their reproductive years, ensuring an adequate
dietary intake of vitamins and minerals, and particularly folic acid, through daily oral
supplements or fortification of staple foods such as wheat or maize flours;
ensuring mothers abstain from, or restrict, their intake of harmful substances, particularly
alcohol;
controlling preconceptional and gestational diabetes, through counselling, weight
management, diet and administration of insulin when needed;
avoiding environmental exposure to hazardous substances (e.g. heavy metals, pesticides)
during pregnancy;
ensuring that any exposure of pregnant women to medications or medical radiation (e.g.
imaging rays) is justified, based on careful health risk–benefit analysis;
improving vaccination coverage, especially against the rubella virus, for children and
women. Rubella can be prevented through childhood vaccination. The rubella vaccine
can also be given at least 1 month prior to pregnancy to women who have not been
vaccinated and do not have a history of rubella in childhood;
increasing and strengthening education of health staff and others involved in promoting
prevention of congenital anomalies.
Detection
Health care before (preconception) and around the time of conception (peri-conception) includes
basic reproductive health practices, as well as medical genetic screening and counselling.
Screening can be conducted during the 3 periods listed next.
Preconception screening can be useful to identify people at risk for specific disorders or
at risk for 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 psychoactive drugs. Ultrasound can be used to screen for Down
syndrome during the first trimester, and for severe fetal anomalies during the second
trimester. Additional tests, and amniocentesis may help in the detection of neural tube
defects and chromosomal abnormalities during the first and second trimesters.
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
In 2010, the World Health Assembly considered a report and adopted a resolution on birth
defects. The report 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.
World Health Assembly report on birth defects
World Health Assembly resolution WHA63.17 on birth defects
The Global Strategy for Women’s and Children’s Health, launched in 2010 by the United
Nations, in collaboration with leaders from governments and other organizations like WHO and
UNICEF, has been crucial in implementing high-impact and cost-effective interventions to
improve neonatal and child health.
Global Strategy for Women’s and Children’s Health
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.
United Nations Convention on the Rights of Persons with Disabilities
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).
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