UNICEF/Noorani
Newborn baby in Timor-Leste
© Credits

Congenital anomalies

    Overview

    Congenital anomalies can be defined as structural or functional anomalies that occur during intrauterine life. Also called birth defects, congenital disorders, or congenital malformations, these conditions develop prenatally and may be identified before or at birth, or later in life. An estimated 6% of babies worldwide are born with a congenital anomaly, resulting in hundreds of thousands of associated deaths. However, the true number of cases may be much higher because statistics do not often consider terminated pregnancies and stillbirths. 

    在线观看|影视免费观看vipSome congenital anomalies can be treated with surgical and non-surgical options, such as cleft lip and palate, clubfoot, and hernias. Others, including heart defects, neural tube defects, and down syndrome, can cause lifelong impacts. 

    Congenital anomalies are one of the main causes of the global burden of disease, and low- and middle-income countries are disproportionately affected. These areas are also less likely to have facilities to treat reversible conditions such as clubfoot, leading to more pronounced and long-lasting effects. 

    Causes

    Approximately 50% of congenital anomalies cannot be linked to a specific cause. However, known causes include single gene defects, chromosomal disorders, multifactorial inheritance, environmental teratogens and micronutrient deficiencies. Genetic causes can be traced to inherited genes or from mutations. Consanguinity – when parents are related by blood – increases the risk of congenital anomalies and nearly doubles the risk of neonatal and early childhood death, intellectual disability and other health conditions. Advanced maternal age also increases the risk of chromosomal abnormalities, including Down syndrome. Some diseases are known to cause increases in rates of congenital anomalies including Zika virus, syphilis and rubella. Other anomalies, such as cystic fibrosis and haemophilia C, are more prevalent in specific ethnic communities.

    The vast majority (94%) of congenital anomalies occur in low- and middle-income countries. Possible causes include lack of screening and prenatal care, insufficient access to nutritious foods for pregnant women, use or contact with alcohol or tobacco, and increased exposure to infection or environmental contaminants. 

    Some congenital anomalies can be prevented through screening, vaccination, fortification of staple foods with nutrients such as folic acid and iodine, and adequate antenatal care, among other methods.

    Impact

    Around the world each year, an estimated 303 000 newborns die before reaching 4 weeks of age due to congenital anomalies and associated complications. 

    在线观看|影视免费观看vipCongenital anomalies can contribute to life-long disability and health conditions. Over 50% of disability-adjusted life years (DALYs) lost each year due to congenital anomalies could be prevented with prompt surgery or other treatment. For example, 100 000 babies are born each year with clubfoot, which can be easily corrected. Left untreated, however, this condition can cause severe and permanent disability.

    在线观看|影视免费观看vipMany congenital anomalies result in social stigma and discrimination, which can lead to embarrassment, isolation and other reductions in community interaction. These conditions also have a high economic cost; long-term disability creates significant impact on individuals, families, health care systems and societies. These effects are amplified in low- and middle-income countries where lack of accessibility and availability of support services may make living with an impairment more difficult.

    Over 300 000 deaths

    occur per year

    in infants under four weeks due to birth defects

    Learn more

    Publications

    All →
    Survive and thrive: transforming care for every small and sick newborn

    在线观看|影视免费观看vipSurvive and thrive: transforming care for every small and sick newborn maps out a pathway towards 2030. It is built upon epidemiology, historical trends,...

    syphilis-trmt

    在线观看|影视免费观看vipSince the publication of the WHO Guidelines for the management of sexually transmitted infections in 2003, changes in the epidemiology of STIs...

    Birth defects surveillance training: facilitator's guide

    The goal of this course is to provide participants with the foundational skills needed to begin the development, implementation and ongoing improvement...

    Guideline: optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects

    This guideline provides global, evidence-informed recommendations on blood folate concentrations in women of reproductive age for the prevention of neural...

    Birth defects surveillance: atlas of selected congenital anomalies

    This Atlas of selected congenital anomalies is a companion tool to Birth defects surveillance: a manual for programme managers, and is intended to help...

    Birth defects surveillance: a manual for programme managers

    在线观看|影视免费观看vipA wide range of causes of congenital anomalies means that a portfolio of prevention approaches is needed including prevention of sexually transmitted infections,...

    Technical update on treatment optimization: use of efavirenz during pregnancy: a public health perspective

    Efavirenz (EFV) has been recommended as the preferred option for a non-nucleoside reverse transcriptase inhibitor in optimized first-line antiretroviral...

    World report on disability

    The first ever World report on disability, produced jointly by WHO and the World Bank, suggests that more than a billion people in the world today experience...