What congenital means
Congenital Definition & Meaning | Dictionary.com
- Top Definitions
- Quiz
- Related Content
- More About Congenital
- Examples
- British
- Scientific
- Cultural
This shows grade level based on the word's complexity.
[ kuhn-jen-i-tl ]
/ kənˈdʒɛn ɪ tl /
Save This Word!
See synonyms for: congenital / congenitally on Thesaurus.com
This shows grade level based on the word's complexity.
Definition of congenital
adjective
of or relating to a condition present at birth, whether inherited or caused by the environment, especially the uterine environment.
having by nature a specified character: a congenital fool.
QUIZ
WILL YOU SAIL OR STUMBLE ON THESE GRAMMAR QUESTIONS?
Smoothly step over to these common grammar mistakes that trip many people up. Good luck!
Question 1 of 7
Fill in the blank: I can’t figure out _____ gave me this gift.
Origin of congenital
First recorded in 1790–1800; from Latin congenit(us) “inborn, innate” (con- con- + geni-, variant stem of gignere “to give birth” + -tus past participle suffix) + -al1
synonym study for congenital
1. See innate.
OTHER WORDS FROM congenital
con·gen·i·tal·ly, adverbcon·gen·i·tal·ness, nounnon·con·gen·i·tal, adjectiveWords nearby congenital
congeneric, congenetic, congenial, congeniality, congenic, congenital, congenitally, conger, congeries, congest, congested
Dictionary.com Unabridged Based on the Random House Unabridged Dictionary, © Random House, Inc. 2022
MORE ABOUT CONGENITAL
What does
congenital mean?Congenital describes something that is or is related to a condition present from birth or during fetal development.
The word congenital can refer to a condition occurring at the time of birth or while the embryo is developing, as in The scientists noticed multiple congenital defects in the kangaroo embryos.
Informally, congenital can mean something is so complete that it seems to have been that way since birth, as in Frank is a congenital liar.
Congenital can refer to a condition that is either inherited or caused by the environment, however there is an important point to remember. In medicine, the word congenital is a general term to refer to any disease that can be present since birth. However, congenital isn’t used interchangeably with words like genetic or hereditary. This is because not all diseases or disorders that can happen during pregnancy (meaning they are congenital) are caused by genes or inheritance.
Congenital is similar to the words innate and inborn, however congenital can refer to pre-birth development and, even in the informal sense, usually refers to negative traits or qualities.
Example: The rats’ misshapen feet appear to be a congenital defect that they have had since they were born.
Where does
congenital come from?The first records of congenital come from around 1790. It comes from the Latin congenit(us), meaning “inborn, innate.” Congenital refers to traits or conditions a living thing has had since (or even before) birth.
When used formally, congenital very often refers to medical conditions or disorders that a person is born with. Congenital disorders or defects can be caused by genetics, but not all of them are. For example, congenital heart defects can be inherited or can be a result of the mother smoking cigarettes or having diabetes while pregnant.
Did you know … ?
How is
congenital used in real life?Congenital is most often used formally to refer to medical disorders and defects that a person is born with.
Just discovered that Arnold Schwarzenegger has the same congenital heart defect as my daughter and I’m very glad to know there’s still hope she’ll become a huge beefcake one day.
— jon bon iver (@kimbaheartsyou) October 25, 2020
LB Zachary Orr has announced he is retiring from the NFL due to a congenital neck/spine condition. 😢
— Baltimore Ravens (@Ravens) January 20, 2017
WARSAW, Poland (AP) — Poland's top court ruled Thursday that a law allowing abortion of fetuses with congenital defects is unconstitutional, shutting a loophole in the predominantly Catholic country's abortion laws that are among Europe's strictest.
— Rick Folbaum (@RickFolbaum) October 22, 2020
Try using
congenital!True or False?
The word congenital refers to a condition that is developed soon after birth.
Words related to congenital
ingrained, inveterate, complete, connate, connatural, constitutional, inbred, indigenous, indwelling, inherent, inherited, innate, intrinsic, latent, native, natural, thorough, unacquired, utter
How to use congenital in a sentence
Techshot also envisions someday using artificial tissue and organs to help treat diseases, and even congenital defects.
NASA inches closer to printing artificial organs in space|Tatyana Woodall|June 18, 2021|MIT Technology Review
Despite having been diagnosed with a congenital heart condition,“she worked day and night—walked in the heat to different centers as and when assigned,” Dinesh says.
'Our Lives Don't Matter.' India's Female Community Health Workers Say the Government Is Failing to Protect Them From COVID-19|Nilanjana Bhowmick / New Delhi|May 5, 2021|Time
Cunningham-Rundles treats many patients with congenital immune system deficiencies.
What immunosuppressed patients should know about the coronavirus vaccines|Lindsey Bever|April 23, 2021|Washington Post
Early on, my vet back home delivered the crushing news that Scout had a congenital kidney disease.
I have the pandemic to thank for this precious time with my old hound, Teddy|Diana Nyad|December 21, 2020|Washington Post
Mabry’s ex-wife worked in a hospital, so two of their kids, including one with a congenital condition, moved in with him.
As COVID-19 Ravaged This Iowa City, Officials Discovered Meatpacking Executives Were the Ones in Charge|by Michael Grabell and Bernice Yeung|December 21, 2020|ProPublica
British Dictionary definitions for congenital
congenital
/ (kənˈdʒɛnɪtəl) /
adjective
denoting or relating to any nonhereditary condition, esp an abnormal condition, existing at birthcongenital blindness
informal complete, as if from birtha congenital idiot
Derived forms of congenital
congenitally, adverbcongenitalness, nounWord Origin for congenital
C18: from Latin congenitus born together with, from genitus born, from gignere to bear, beget
Collins English Dictionary - Complete & Unabridged 2012 Digital Edition © William Collins Sons & Co. Ltd. 1979, 1986 © HarperCollins Publishers 1998, 2000, 2003, 2005, 2006, 2007, 2009, 2012
Scientific definitions for congenital
congenital
[ kən-jĕn′ĭ-tl ]
Existing at or before birth, as a defect or medical condition.
The American Heritage® Science Dictionary Copyright © 2011. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.
Cultural definitions for congenital
congenital
[ (kuhn-jen-i-tl) ]
A descriptive term for a disease or condition that is present at birth. A congenital disease can be either hereditary or acquired.
The New Dictionary of Cultural Literacy, Third Edition Copyright © 2005 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.
What is a congenital disorder?
What is a congenital disorder? | Pregnancy Birth and Baby beginning of content5-minute read
Listen
What is a congenital disorder?
A congenital disorder is a condition that is present from birth. Congenital disorders can be inherited or caused by environmental factors. Their impact on a child’s health and development isn’t always severe, and sometimes it can be quite mild. However, a child with a congenital disorder may experience a disability or health problems throughout life.
It’s natural to be concerned about congenital disorders if you’re pregnant or planning a pregnancy, especially if your family has a history of a particular disorder. It’s possible to test for some, but not all disorders during pregnancy, and there are also things you can do to reduce the chances of your baby being born with a congenital disorder.
What are the most common congenital disorders?
Some common congenital disorders are:
- cleft lip and cleft palate — usually diagnosed during routine scans in pregnancy
- congenital heart disease — including a hole in the heart, a valve problem or a problem with the blood vessels. These are usually diagnosed during routine scans in pregnancy or during newborn screening.
- cerebral palsy — usually diagnosed in the first few years of life
- Fragile X syndrome — may be diagnosed through genetic testing during pregnancy or in the first few years of life
- Down syndrome (Trisomy 21) — usually diagnosed through genetic during pregnancy
- spina bifida — usually diagnosed during routine scans in pregnancy
- cystic fibrosis — usually diagnosed during newborn screening
What tests for congenital disorders are available in pregnancy?
Testing for some congenital disorders, such as Down syndrome, can be performed using a blood test from 10 weeks of pregnancy onwards. Although many parents choose to have tests during pregnancy, it is not compulsory. Some parents choose not to have tests.
Screening tests are designed to identify babies who may be at increased risk of a congenital disorder. If a screening test does not rule out your baby having a congenital disorder, the next step is to have a diagnostic test.
Diagnostic tests, such as ultrasound scans, blood tests and sometimes urine tests, aim to identify babies who have a congenital disorder and to find out what that disorder is.
However, it is not possible to test for all congenital disorders during pregnancy, and testing is not perfect.
Chorionic villus sampling (CVS)
Chorionic villus sampling, or CVS, is usually performed between 10 and 13 weeks of pregnancy if screening tests show your baby may have a congenital disorder. CVS can be used to diagnose babies with Down syndrome or other genetic conditions. You would be given a local anaesthetic and a doctor would use a needle to collect a small sample of cells from your placenta, which is then sent for testing.
Amniocentesis
This test is done after 15 weeks of pregnancy and may be done instead of, or as well as CVS. It can provide a definite answer as to whether your baby has Down syndrome or another congenital disorder.
Amniocentesis involves taking a small amount of fluid from around your baby, using a needle and after a local anaesthetic, which is then sent for testing.
There is a very small risk of miscarriage with both CVS and amniocentesis.
Can congenital disorders be prevented?
If you have a personal or family history of certain congenital disorders, you can have genetic tests before you become pregnant. You may wish to meet with a genetic counsellor to discuss your family history, the likelihood your baby will have any congenital disorders, and possibly to arrange to have genetic testing.
If you are having in vitro fertilisation (IVF) treatment, your embryo can be tested at 2 to 4 days old, before it is implanted into your uterus.
Other things you can do to try to prevent congenital disorders include:
- eating a healthy diet with enough vitamins and minerals, in particular folic acid, during the reproductive years
- taking folic acid supplements before you become pregnant and for the first trimester of pregnancy
- avoiding alcohol, smoking and other drugs because these can harm the fetus
- controlling diabetes and gestational diabetes
- avoiding exposure to chemicals in your environment, such as pesticides or lead
- being vaccinated, especially against rubella
Newborn testing and assessment
A paediatrician and other health professionals examine your baby in the first few days of life to check for hearing problems, heart conditions, and blood, metabolism and hormone disorders. This is called newborn screening. Early detection of such problems can often prevent them from becoming more serious physical, intellectual, visual or hearing disabilities.
Sources:
Raising Children Network (Tests in pregnancy), Raising Children Network (Newborn screening), Raising Children Network (Antenatal tests: chromosomal abnormalities and other conditions), Raising Children Network (Congenital heart disease), World Health Organization (Congenital anomalies), The Royal Children's Hospital Melbourne (Cleft lip and palate), Cerebral Palsy Alliance (Signs and symptoms of Cerebral Palsy), Fragile X Association of Australia (Testing and screening for Fragile X), NSW Health Centre for Genetics Education (Screening tests during pregnancy), Sydney Children's Hospitals Network (Spina bifida)Learn more here about the development and quality assurance of healthdirect content.
Last reviewed: June 2021
Back To Top
Related pages
- Disability and parenting support
- Early childhood intervention
- What is a childhood disability?
- Your feelings about your child's disability
- Disability rights for children
Need further advice or guidance from our maternal child health nurses?
1800 882 436
Video call
- Contact us
- About us
- A-Z topics
- Symptom Checker
- Service Finder
- Linking to us
- Information partners
- Terms of use
- Privacy
Pregnancy, Birth and Baby is funded by the Australian Government and operated by Healthdirect Australia.
Pregnancy, Birth and Baby is provided on behalf of the Department of Health
Pregnancy, Birth and Baby’s information and advice are developed and managed within a rigorous clinical governance framework. This website is certified by the Health On The Net (HON) foundation, the standard for trustworthy health information.
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
This information is for your general information and use only and is not intended to be used as medical advice and should not be used to diagnose, treat, cure or prevent any medical condition, nor should it be used for therapeutic purposes.
The information is not a substitute for independent professional advice and should not be used as an alternative to professional health care. If you have a particular medical problem, please consult a healthcare professional.
Except as permitted under the Copyright Act 1968, this publication or any part of it may not be reproduced, altered, adapted, stored and/or distributed in any form or by any means without the prior written permission of Healthdirect Australia.
Support this browser is being discontinued for Pregnancy, Birth and Baby
Support for this browser is being discontinued for this site
- Internet Explorer 11 and lower
We currently support Microsoft Edge, Chrome, Firefox and Safari. For more information, please visit the links below:
- Chrome by Google
- Firefox by Mozilla
- Microsoft Edge
- Safari by Apple
You are welcome to continue browsing this site with this browser. Some features, tools or interaction may not work correctly.
What is congenital heart disease
- Home
- Information
- Articles
(CHP) are anatomical changes in the structures of the heart. CHD occurs in 8-10 out of 1000 children. In recent years, this figure has been growing (mainly due to improved diagnosis and, accordingly, an increase in the frequency of cases of CHD recognition).
What are the causes of UPU?
The formation of the heart occurs at 2-8 weeks of gestation, and it is during this period that defects develop. Most often, the defect is the result of an accidental violation of the development of the heart in the fetus, so a child with a defect can be born in any family. Sometimes CHD are combined with malformations of other organs as a component of some hereditary syndromes (fetal alcohol syndrome, Down syndrome, etc.).
Prenatal diagnosis of congenital heart disease
Fortunately, it is possible to predict the birth of a child with congenital heart disease. To do this, every woman should undergo an ultrasound examination of the fetus starting from the 11th week of pregnancy.
When congenital heart disease is detected in the fetus, parents receive information about the expected viability of the child, the severity of his pathology, and the upcoming treatment.
What makes a doctor suspect congenital heart disease in a newborn?
There are a number of signs that immediately or a few days after birth suggest that the child has a congenital heart disease.
- Heart murmurs
- Cyanosis, or cyanosis of the skin.
- Heart failure, manifested by increased heart rate, respiratory rate, liver enlargement, swelling.
- Spasm of peripheral vessels: blanching and coldness of the extremities, the tip of the nose.
What can lead parents to suspect that a child has congenital heart disease?
Severe heart defects are usually recognized already in the maternity hospital. However, if the pathology is implicit, the child can be discharged home. What can parents notice? If the child is lethargic, sucks poorly, often burps, turns blue when crying or at the time of feeding, his heart rate is above 150 beats per minute, then you should definitely pay attention to this pediatrician.
How is the diagnosis of congenital heart disease confirmed?
If the doctor suspects that a child has a heart defect, the main method of instrumental diagnostics is an ultrasound examination of the heart, or echocardiography. In addition to ultrasound, a child with suspected congenital heart disease will have an electrocardiogram.
Congenital heart disease - not a sentence!
Congenital heart defects are treated mainly surgically. As a rule, after the operation, such children are no different from their peers. The earlier the operation was performed, the more chances the child has for a full life and development.
High-class doctors OKD "CD and SSH" will help in solving all problems related to your child's heart.
At the Medical Genetic Consultation :
- geneticists will advise future parents who want to have healthy offspring, assess the risk of having a child with congenital heart disease,
- specialists in ultrasound diagnostics will conduct an ultrasound examination of the fetus in pregnant women.
In the clinic OKD :
- pediatric cardiologists, pediatric cardiac surgeons examine the child, prescribe treatment, put him on a dispensary record, if necessary, send him for an operation in a timely manner,
- functional diagnostics specialists will perform echocardiography, electrocardiography and other examinations.
In the cardiac surgery department OKD :
- pediatric cardiac surgeons will perform surgical treatment, in some cases endovascular intervention is possible (without a chest incision).
Documents
What is congenital heart disease The size: 144.9 Kb
Back to list
Malformations
Malformations- Popular Topics
- Air pollution
- Coronavirus disease (COVID-19)
- Hepatitis
- Data and statistics »
- News bulletin
- The facts are clear
- Publications
- Find the country »
- A
- B
- B
- g
- D
- E
- ё
- f
- K
- and
- to 9000 H
- O
- R
- R
- S
- T
- Y
- F
- X 9003 W 9003 C
- S
- B
- S
- B
- E
- S
- I
3
- WHO in countries »
- Reporting
- Regions »
- Africa
- America
- Southeast Asia
- Europe
- Eastern Mediterranean
- Western Pacific
- Media Center
- Press releases
- Statements
- Media messages
- Comments
- Reporting
- Online Q&A
- Developments
- Photo reports
- Questions and answers
- Update
- Emergencies "
- News "
- Disease Outbreak News
- WHO data »
- Dashboards »
- COVID-19 Monitoring Dashboard
- Basic moments "
- About WHO »
- CEO
- About WHO
- WHO activities
- Where does WHO work?
- Governing Bodies »
- World Health Assembly
- Executive committee
- Main page/
- Media Center /
- Newsletters/
- Read more/
- Malformations
\n
- \n
- development and strengthening of registration and surveillance systems; \n
- experience and capacity building; \n
- strengthening research and scientific work in the field of etiology, diagnosis and prevention; \n
- strengthening international cooperation. \n
\n
Definition
\n
\nCongenital malformations are also referred to as congenital malformations, congenital disorders, or congenital deformities. Congenital malformations can be defined as structural or functional abnormalities (eg, metabolic disorders) that appear in utero and may be identified before birth, during birth, or later in life.
\n
Causes and risk factors
\n
\nApproximately 50% of all malformations cannot be attributed to any specific cause, but some causes or risk factors are known.
\n
Socio-economic factors
\n
\nAlthough low income may be an indirect determinant, malformations are more likely to occur in families and countries with insufficient resources. It is estimated that approximately 94% of severe malformations occur in middle- and low-income countries, where women often do not have access to sufficient and good enough food and may be exposed to some agent or factor, such as infection or alcohol, that provokes or enhances deviations from the norm in prenatal development. Moreover, motherhood in adulthood increases the risk of chromosomal abnormalities, including Down's syndrome, while motherhood at a young age increases the risk of certain congenital malformations.
\n
Genetic factors
\n
\nIncest (consanguinity) increases the incidence of rare genetic birth defects and almost doubles the risk of neonatal and infant mortality, mental retardation and severe birth defects in children born to first cousins . Some ethnic groups, such as Ashkenazi Jews and Finns, have a relatively high prevalence of rare genetic mutations that lead to an increased risk of malformations.\n
\n
Infections
\n
\nMaternal infections such as syphilis or measles are a common cause of birth defects in low- and middle-income countries.
\n
Maternal nutrition
\n
\nDeficiencies in iodine, folic acid, obesity, or conditions such as diabetes mellitus are associated with some malformations. For example, folic acid deficiency increases the risk of having a baby with a neural tube defect. In addition, increased intake of vitamin A may affect the normal development of the embryo or fetus.
\n
Environmental factors
\n
\nMaternal exposure to certain pesticides and other chemicals, as well as certain drugs, alcohol, tobacco, psychoactive substances, or radiation during pregnancy may increase the risk of developing the fetus or a newborn baby with birth defects. Working or living near or close to landfills, smelters, or mines can also be a risk factor, especially if the mother is exposed to other environmental risk factors or malnutrition.
\n
Prevention
\n
\nPregnancy and conception preventive health care, and prenatal care, reduce the incidence of some birth defects. Primary prevention of malformations includes the following measures:
\n
- \n
- Improving the nutrition of women during the reproductive period by ensuring adequate intake of vitamins and minerals, especially folic acid, as a result of daily oral supplementation or fortification of staple foods, such as wheat or corn flour. \n
- Supervise that a pregnant woman does not consume or consume in a limited amount unhealthy foods, especially alcohol. \n
- Prevention of diabetes in pregnancy and during pregnancy through counseling, weight management, proper nutrition, and, if necessary, insulin administration. \n
- Prevention of exposure to environmental hazardous substances (eg, heavy metals, pesticides, certain drugs) during pregnancy. \n
- Ensuring that any exposure of a pregnant woman to medicines or medical exposures (such as x-rays) is justified and based on a careful analysis of the health risks and benefits. \n
- Increase vaccination coverage for women and children, especially against rubella virus. This disease can be prevented by vaccinating children. Rubella vaccine may also be given at least one month before pregnancy to women who did not receive the vaccine or who did not have rubella in childhood. \n
- Increase vaccination coverage for women and children, especially against rubella virus. This disease can be prevented by vaccinating children. Rubella vaccine may also be given to women who are not immune to the disease at least one month before pregnancy. \n
- Scaling up and intensifying training for health professionals and other staff involved in strengthening malformation prevention. \n
\n
Identification
\n
\nPre-conception (pre-conception) and near conception (per-conception) health care includes basic reproductive health care as well as medical genetic screening and counseling. Screening can be carried out during the three periods listed below.
\n
- \n
- Pre-pregnancy screening is designed to identify people who are at risk of developing certain health conditions or at risk of passing on any health conditions to their children. Screening includes family medical history and vector screening. Screening is especially important in countries where incestuous marriages are common. \n
- Preconception screening: Maternal characteristics may increase risk, and screening results should be used to provide appropriate care based on risk. During this period, screening of young and mature mothers, as well as screening for the use of alcohol, tobacco and other psychoactive substances, can be carried out. Ultrasound can be used to detect Down's syndrome during the first trimester of pregnancy and severe fetal malformations during the second trimester. Additional tests and amniocentesis help detect neural tube defects and chromosomal abnormalities during the first and second trimesters of pregnancy. \n
- Newborn screening includes a clinical examination, as well as screening for hematological, metabolic, and hormonal disorders. Screening for deafness and heart disease, and early detection of birth defects, can facilitate life-saving treatment and prevent progression of the defect, which could lead to some form of physical, mental, or visual or hearing disability. In some countries, all newborns are screened for thyroid and adrenal abnormalities before being discharged from the maternity ward. \n
\n
Treatment and care
\n
\nIn countries with adequate health services, structural congenital malformations can be corrected with pediatric surgery and children with functional problems such as thalassemia (inherited by recessive blood disease), sickle cell disorders, and congenital hypothyroidism.
\n
WHO activities
\n
\nIn 2010, the World Health Assembly published a report on birth defects. The report outlines the main components of establishing national programs for the prevention and care of birth defects before and after birth. The report also recommends priority actions for the international community to help establish and strengthen such national programs.
\n
\nThe Global Strategy for Women's and Children's Health, announced in September 2010 by the United Nations, in collaboration with government leaders and other organizations such as WHO and UNICEF, plays a critical role in implementing efficient and cost-effective action to promote newborn and child health.\n
\n
\nWHO is also working with the National Center for Birth and Developmental Disorders, part of the US Centers for Disease Control and Prevention (CDC), and other partners to develop a global policy to fortify foods with salt folic acid at the country level. In addition, WHO is working with partners to provide the necessary technical expertise to conduct surveillance of neural tube defects, monitor efforts to fortify foods with folic acid salts, and strengthen laboratory capacity to assess risks for birth defects prevented by folic acid salts.
\n
\nThe International Clearing House for Surveillance and Research on Birth Defects is a voluntary, non-profit, international organization in official relations with WHO. This organization collects surveillance data on birth defects and research programs around the world to study and prevent birth defects and mitigate their effects.
\n
\nThe WHO Departments of Reproductive Health and Research and Nutrition for Health and Development, in collaboration with the International Clearing House for Surveillance and Research on Birth Defects and the CDC National Center for Birth Defects and Development, organize annual seminars on surveillance and prevention of birth defects and preterm birth. The WHO Department of HIV/AIDS is collaborating with these partners to strengthen surveillance for malformations among women receiving antiretroviral drugs during pregnancy as an integral part of the monitoring and evaluation of national HIV programs.
\n
\nThe GAVI Alliance, partnered with WHO, is helping developing countries to increase the control and elimination of rubella and congenital rubella syndrome through immunization.
\n
\nWHO is developing normative tools, including guidelines and a global plan of action to strengthen health care and rehabilitation services in support of the implementation of the Convention on the Rights of Persons with Disabilities. Similarly, WHO is helping countries integrate health care and rehabilitation services into general primary health care, supporting the development of community-based rehabilitation programs and strengthening specialized rehabilitation centers and their links with community-based rehabilitation centers.
\n
United Nations Convention on the Rights of Persons with Disabilities
\n
\nThe WHO Department of Public Health and Environment works across a range of areas and develops interventions to address the environmental and social determinants of child development. These include: child-only vulnerability to indoor and outdoor air pollution, water pollution, lack of basic hygiene, toxic compounds, heavy metals, waste components and radiation exposure; mixed impact of factors related to the social environment, professional activities and nutrition, as well as the living conditions of children (home, school).
\n
","datePublished":"2022-02-28T22:52:00.0000000+00:00","image":"https://cdn.who.int/media/images/default -source/imported/preterm-birth-mother-jpg.jpg?sfvrsn=c5c1adf1_0","publisher":{"@type":"Organization","name":"World Health Organization: WHO","logo": {"@type":"ImageObject","url":"https://www.who.int/Images/SchemaOrg/schemaOrgLogo.jpg","width":250,"height":60}},"dateModified ":"2022-02-28T22:52:00.0000000+00:00","mainEntityOfPage":"https://www.who.int/ru/news-room/fact-sheets/detail/congenital-anomalies", "@context":"http://schema.org","@type":"Article"};
Key Facts
- An estimated 303,000 children die each year from malformations in the first 4 weeks of life.
- Developmental disabilities can lead to long-term disability, which has a significant impact on individuals, their families, health systems and society.
- The most severe malformations include heart defects, neural tube defects and Down's syndrome.
- Although malformations may be genetic, infectious or environmental in origin, the exact cause is often difficult to establish.
- Some birth defects can be prevented. The main elements of prevention are, inter alia, vaccination, adequate intake of folic acid or iodine through fortification of staple foods or provision of nutritional supplements, and proper prenatal care.
Malformations and preterm birth are major causes of childhood death, chronic disease and disability in many countries. In 2010, the World Health Assembly adopted a resolution calling on all Member States to promote primary prevention and health promotion for children with developmental disabilities through:
- development and strengthening of registration and surveillance systems;
- experience and capacity building;
- strengthening research and scientific work in the field of etiology, diagnosis and prevention;
- strengthening international cooperation.
Definition
Congenital malformations are also referred to as congenital malformations, congenital disorders or congenital deformities. Congenital malformations can be defined as structural or functional abnormalities (eg, metabolic disorders) that appear in utero and may be identified before birth, during birth, or later in life.
Causes and risk factors
Approximately 50% of all malformations cannot be attributed to any specific cause, but some causes or risk factors are known.
Socio-economic factors
While low income may be an indirect determinant, malformations are more likely to occur in under-resourced families and countries. It is estimated that approximately 94% of severe malformations occur in middle- and low-income countries, where women often do not have access to sufficient and good enough food and may be exposed to some agent or factor, such as infection or alcohol, that provokes or enhances deviations from the norm in prenatal development. Moreover, motherhood in adulthood increases the risk of chromosomal abnormalities, including Down's syndrome, while motherhood at a young age increases the risk of certain congenital malformations.
Genetic factors
Incest (consanguinity) increases the prevalence of rare genetic birth defects and almost doubles the risk of neonatal and infant mortality, mental retardation and severe birth defects in children born to first cousins. Some ethnic groups, such as Ashkenazi Jews and Finns, have a relatively high prevalence of rare genetic mutations that lead to an increased risk of malformations.
Infections
Maternal infections such as syphilis or measles are a common cause of birth defects in low- and middle-income countries.
Maternal nutrition
Deficiency of iodine, folic acid salts, obesity, or conditions such as diabetes mellitus are associated with some malformations. For example, folic acid deficiency increases the risk of having a baby with a neural tube defect. In addition, increased intake of vitamin A may affect the normal development of the embryo or fetus.
Environmental factors
Maternal exposure to certain pesticides and other chemicals, as well as certain drugs, alcohol, tobacco, psychoactive substances, or radiation during pregnancy may increase the risk of birth defects in the fetus or newborn. Working or living near or close to landfills, smelters, or mines can also be a risk factor, especially if the mother is exposed to other environmental risk factors or malnutrition.
Prevention
Preventive health care during pregnancy and conception, as well as antenatal care, reduce the incidence of some birth defects. Primary prevention of malformations includes the following measures:
- Improving the nutrition of women during the reproductive period by ensuring adequate intake of vitamins and minerals, especially folic acid, through daily oral supplementation or fortification of staple foods such as wheat or corn flour .
- Supervise that a pregnant woman does not consume or consume in a limited amount unhealthy foods, especially alcohol.
- Prevention of diabetes in pregnancy and during pregnancy through counseling, weight management, proper nutrition and, if necessary, insulin administration.
- Prevention during pregnancy of exposure to hazardous environmental substances (eg, heavy metals, pesticides, certain drugs).
- Ensuring that any exposure of a pregnant woman to drugs or medical exposure (eg X-rays) is justified and based on a careful analysis of the health risks and benefits.
- Increase vaccination coverage for women and children, especially against rubella virus. This disease can be prevented by vaccinating children. Rubella vaccine may also be given at least one month before pregnancy to women who did not receive the vaccine or who did not have rubella in childhood.
- Increase vaccination coverage for women and children, especially against rubella virus. This disease can be prevented by vaccinating children. Rubella vaccine may also be given to women who are not immune to the disease at least one month before pregnancy.
- Scaling up and strengthening training for health professionals and other staff involved in strengthening the prevention of malformations.
Detection
Medical care before conception (in the preconception period) and around the time of conception (in the periconceptional period) includes basic reproductive health care, as well as medical genetic screening and counseling. Screening can be carried out during the three periods listed below.
- Pre-pregnancy screening is designed to identify people who are at risk of developing certain health conditions or passing on any health conditions to their children. Screening includes family medical history and vector screening. Screening is especially important in countries where incestuous marriages are common.
- Preconception screening: Maternal characteristics may increase risk and screening results should be used to provide appropriate care based on risk. During this period, screening of young and mature mothers, as well as screening for the use of alcohol, tobacco and other psychoactive substances, can be carried out. Ultrasound can be used to detect Down's syndrome during the first trimester of pregnancy and severe fetal malformations during the second trimester. Additional tests and amniocentesis help detect neural tube defects and chromosomal abnormalities during the first and second trimesters of pregnancy.
- Newborn screening includes a clinical examination, as well as screening for hematological, metabolic and hormonal disorders. Screening for deafness and heart disease, and early detection of birth defects, can facilitate life-saving treatment and prevent progression of the defect, which could lead to some form of physical, mental, or visual or hearing disability. In some countries, all newborns are screened for thyroid and adrenal abnormalities before being discharged from the maternity ward.
Treatment and medical care
In countries with adequate health services, structural birth defects can be corrected with pediatric surgery and timely treatment can be provided for children with functional problems such as thalassemia (a recessive blood disorder), sickle cell disorders, and congenital hypothyroidism.
WHO activities
In 2010, the World Health Assembly published a report on birth defects. The report outlines the main components of establishing national programs for the prevention and care of birth defects before and after birth. The report also recommends priority actions for the international community to help establish and strengthen such national programs.
The Global Strategy for Women's and Children's Health, launched in September 2010 by the United Nations in collaboration with government leaders and other organizations such as WHO and UNICEF, plays a critical role in achieving effective and cost-effective action to improve newborn health and children.
WHO is also working with the National Center for Birth and Developmental Disorders, part of the US Centers for Disease Control and Prevention (CDC), and other partners to develop a global policy for folic acid fortification at the country level. In addition, WHO is working with partners to provide the necessary technical expertise to conduct surveillance of neural tube defects, monitor efforts to fortify foods with folic acid salts, and strengthen laboratory capacity to assess risks for birth defects prevented by folic acid salts.
The International Clearing House for Surveillance and Research on Birth Defects is a voluntary, non-profit international organization in official relations with WHO. This organization collects surveillance data on birth defects and research programs around the world to study and prevent birth defects and mitigate their effects.
The WHO Departments of Reproductive Health and Research and Nutrition for Health and Development, in collaboration with the International Clearing House for Surveillance and Research on Birth Defects and the CDC National Center for Birth Defects and Development, organize annual workshops on surveillance and prevention of birth defects and premature birth. The WHO Department of HIV/AIDS is collaborating with these partners to strengthen surveillance for malformations among women receiving antiretroviral drugs during pregnancy as an integral part of the monitoring and evaluation of national HIV programs.
The GAVI Alliance, with WHO among its partners, is helping developing countries to accelerate the control and elimination of rubella and congenital rubella syndrome through immunization.
WHO is developing normative tools, including guidelines and a global action plan to strengthen health care and rehabilitation services in support of the implementation of the Convention on the Rights of Persons with Disabilities. Similarly, WHO is helping countries integrate health care and rehabilitation services into general primary health care, supporting the development of community-based rehabilitation programs and strengthening specialized rehabilitation centers and their links with community-based rehabilitation centers.
UN Convention on the Rights of Persons with Disabilities
The WHO Department of Public Health and Environment works across a range of activities and develops interventions to address the environmental and social determinants of child development. These include: child-only vulnerability to indoor and outdoor air pollution, water pollution, lack of basic hygiene, toxic compounds, heavy metals, waste components and radiation exposure; mixed impact of factors related to the social environment, professional activities and nutrition, as well as the living conditions of children (home, school).