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The Complexity of Birth Defects

Birth defects, also known as congenital anomalies, are structural or functional abnormalities present
at birth that can cause physical or developmental disabilities. These defects can range from mild to
severe and can affect any part of the body. They can be caused by genetic factors, environmental
factors, or a combination of both.

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Methods Study population The data source for this study was Utah’s statewide population based
public health surveillance system (Utah Birth Defect Network, UBDN), housed at the Utah
Department of Health. The birth defects get vary from mild to severe and in some cases, the birth
defects lead to the death of the baby. An outline of the negative outcomes of pregnancy and
childbirth. Multifactorial Influences The cause for the Multifactorial influences which causes birth
defect are unknown but in certain cases, a combination of genetic mutation leads to Multifactorial
influences. If you receive a call asking for personal information, please do not provide it unless you
are certain the request is legitimate. Through past research some key causes identified behind birth
defects are as follows. You will be able to get a quick price and instant permission to reuse the
content in many different ways. Babies born to such women may also get impacted by increased
chances of cardiac issues (Wolfberg). At least, 50 percent of the defects were detected during
pregnancy itself. But, we don’t fully understand how these factors might work together to cause
birth defects. The risk of Down syndrome in the general faces with a long, smooth upper lip. The
eyes. Start or stop taking any type of medicine only after talking to your doctor. Screening Tests:
Towards the end of the first trimester between the 11 th and the 13 th week, two screening tests are
done to check for chromosomal disorders. These criminals can make it look like the call is coming
from our office number. The foetal outcome depends on the mutation (dominant or recessive) and the
sex of the foetus (autosome, sex chromosome). Common Birth Defects The birth defects can be
caused by genetic, environmental, or other unknown factors. Such research can be particularly
powerful and efficient if done in collaboration with population based birth defect surveillance
programs enhanced with clinical expertise and meaningful case classification. 36 Advances in the
knowledge of the causal pathway leading to birth defects can be the basis for better primary
prevention interventions, resulting in longer and better lives. When these well. Otherwise cup feeding
or bottle feeding. This is the period when neural tube formation takes place. While these genetic
causes are relatively straightforward, however, it is likely that further research will discover more
complex networks accounting for genetic and environmental contributions to birth defects etiology.
In addition, we could have underestimated the proportion caused by a teratogen if an exposure (such
as maternal pregestational diabetes) was not noted in the medical record or not queried by the
physician of record. But for most birth defects, we don’t know what causes them. These include
metabolic defects, sensory problems and nervous system defects. Unleashing the Power of AI Tools
for Enhancing Research, International FDP on. The infant infants must be transferred urgently to a.
To identify potential cases, the program uses multiple reporting sources, both prenatal and postnatal.
Spina bifida occurs during early stages of pregnancy. In the analysis of a major cardiac birth defect, if
exposure to the drug occurred after week 6, the drug cannot have been the cause of the birth defect.
Don’t stop or start taking any type of medication without first talking with a doctor. Saide OER
Africa Toolkit: Unit 5 - Good nutrition for learning.
Her daughter, Olivia, is 7 months old. “Why are they going to put the time and money into chatting
with people who don’t know. Most of the common birth defects happen during the first three
months of the pregnancy as this is the period when the organs of the baby will form and this is the
most important period in the children grow. Maternal Infections Rubella or German measles can
cause abnormalities of the eye, inner ear and heart. It becomes necessary on part of the authorities to
educate masses why extreme precaution and care is necessary during pregnancy stage so as to avoid
agony after birth of baby. Chances of its occurrence go up with the age of mother at the time of
baby's birth (Edward’s syndrome, 2012). In some instances, the abnormality during gametogenesis
may be restricted to a gene mutation. As per the research report from Johns Hopkins, babies born of
women suffering from thyroid disease have more chances to get impacted from kidney, heart or
brain defects in spite of having a normal thyroid functioning of the mother during pregnancy.
Notably, cases considered to be familial (14.5%) or “multifactorial” (23%) were considered to be of
known etiology; however, definitions were not provided and the inclusion especially of the
“multifactorial” conditions is debatable. Mental retardation, learning disabilities, speech difficulties
are the brain defects that indicate about the functional impairment. A small VSD usually causes no
problems at all and close on their own, while medium and large require surgery at an early stage to
avoid complications. If the baby has a partial defect, it would mean there is some issue that involves
a hole lying between the atria and an abnormal mitral valve. The children with Down's syndrome are
also found to be impacted with high incidence of heart disease, hearing or vision issues, Alzheimer's
disease. You can find out the baby has a problem before they are born through prenatal blood tests,
and when this confirmed, the mother goes through genetic counseling and further tests to confirm
the condition. The environmental causes may be many such as exposure to viruses or some kinds of
infection during pregnancy, smoking tendency, exposure to pesticide or radiation, and oral
contraceptive practices, yet nothing can be said concretely for the high level of incidents in a
particular geographic location as such (Causes of Down's syndrome, 2012). One mother named
Cindy had a fairly simple pregnancy, she had a healthy diet and exercised 30-60 minutes a day right
up until her third trimester. That means that instead of having 46 chromosomes, a person with the
condition has 47. Congenital heart disease and neural tube defects are common causes of deaths due
to birth defects. State birth defects tracking programs provide one way to identify and refer children
as early as possible for services they need. If you have a chronic health condition — such as diabetes
or high blood pressure — work with your doctor to manage them during pregnancy. It causes the
baby’s body to produce thick mucus that’s stickier than ordinary mucus, making breathing difficult.
Problems that the child goes through until the problem is corrected include some hearing loss,
challenges in feeding, problems with their dental health speech issues, and increased occurrence of
hearing problems. Defects in the neural tube In a developing embryo, there is no presence of the
spinal cord and the brain. There are no plans to involve patients in the dissemination of results. As a
result, the baby is born without a portion of the brain or skull. A minimum dose of 250 microgram of
iodine must be consumed through food and supplements daily during pregnancy to prevent maternal
hypothyroidism. Functional birth defect relates with the abnormal functioning of some body part.
Cases of fetal alcohol syndrome were included only if a major birth defect was diagnosed. Medical
science cannot completely eliminate nature's doing but can reduce the incidents to a great extent. The
cause of heart defects in the fetus is mostly unknown, but certain environmental factors can
contribute to it. Saide OER Africa Toolkit: Unit 7 - Counselling support for vulnerable learners.
Morphology: a case with a single major birth defect (with or without a minor birth defect) was
considered isolated.
While this sounds high-risk, these types of treatments often result in higher survival rates.
Professional Learning Communities for Teacher Development: The Collaborative. They might vary in
severity and be detected in different organs, but some of them are harmless too. Some of the facts of
birth defect are The age of the pregnant women plays an important role in the birth defect and if the
women are above 35 years of age during her pregnancy have a higher risk of having a child with a
birth defect. Teratology Public Affairs Committee Position Paper: Iodine Deficiency in Pregnancy.
Competing interests: All authors have completed the ICMJE uniform disclosure form and declare no
support from any organization for the submitted work, no financial relationships with any
organizations that might have an interest in the submitted work in the previous three years, and no
other relationships or activities that could appear to have influenced the submitted work. The
terminal partial amputation can involve digits, toes, forearm, arm, leg, or thigh. Examples of
dangerous prescription drugs include Zofran, Zoloft, Accutane, Prozac, anti-depressants, antibiotics,
and anti-seizure medications. Dietary deficiency of folic acid also plays a pivotal role in birth
defects. Single Gene Defects The Phenylketonuria is the category of single gene defect which is
caused by the failure of PAH enzyme which breaks the amino acid phenylalanine. Since formations
of heart, kidney and vertebrae take place at the same time, children having scoliosis may also suffer
from some kind of heart or kidney malfunctioning (Congenital Scoliosis 2012). If your doctor
concludes that your child will be born with a genetic disease or birth defect, genetic counseling also
explains all aspects of the condition to the parents — along with treatment options and how to move
forward when caring for your child. Discussion In this five year population based birth defect case
cohort, systematic clinical review identified known etiology in only one in five—specific etiology
could not be conclusively assigned in most (79.8%) cases. We considered the etiology known if there
was conclusive evidence of one of four factors: chromosomal abnormalities (structure or number),
genetic conditions, twinning, or an established human teratogen. Similarly, cleft lip or palate is found
to be in 15.2 babies per 10,000; Edwards’ syndrome in seven per 10,000 and Patau’s syndrome in
two per 10,000 babies of England and Wales. Introduction Birth defects are inborn errors of
development. But, we don’t fully understand how these factors might work together to cause birth
defects. Such research can be particularly powerful and efficient if done in collaboration with
population based birth defect surveillance programs enhanced with clinical expertise and meaningful
case classification. 36 Advances in the knowledge of the causal pathway leading to birth defects can
be the basis for better primary prevention interventions, resulting in longer and better lives. Birth
defects account for 7% of all neonatal mortality and 3.3 million deaths that occur in children under
five years of age every year. 94% of severe congenital anomalies occur in low and middle-income
countries possibly due to lack of nutritious foods, infections and lack of proper healthcare and
screening tests. For an optimal experience, please switch to the latest version of Google Chrome,
Microsoft Edge, Apple Safari or Mozilla Firefox. Over 150,000 babies are born with serious birth
defects each year. Toolkit: Unit 1 - How responsive are schools to the socio-economic challenges. It
is to be understood that there is little possibility to treat, cure or amend congenital defects in the
baby. Toolkit: Unit 1 - How responsive are schools to the socio-economic challenges. While given the
wide variety of different factors at play, it may not be possible to completely avoid birth defects.
Guidelines for case classification for the National Birth Defects Prevention Study. But thanks to the
medical advancements now it’s possible to detect most of them in advance, and once the baby is
born, they can be given the proper treatment. The association of the DiGeorge anomalad with partial
monosomy of chromosome 22. It results in nerve damage and full or partial paralysis in the legs. For
some birth defects, some progress has been made over the past decades, such as the contribution of
microdeletions (such as deletion 22q11 in cases of heart defects and cleft palate 22 23 24 25 ) and
novel single gene mutations (such as CHD7 mutations in CHARGE syndrome 13 ). This, typically,
results from a chromosomal abnormality or gene mutation during gametogenesis.
Moreover, it has also been observed that Down's, Patau's or Edwards' syndrome have some kind of
association with neural tube defects. This is 100% legal. You may not submit downloaded papers as
your own, that is cheating. Also you. They should ask questions, learn and focus on their child’s
impairments and help them to overcome them. Early diagnosis that leads to early intervention can
help with the delayed speech and language development that usually occurs with the loss. The
woman giving birth at higher age has enhanced chances of having a baby with this kind of birth
defect but not as much as found to be with Down’s or Edward’s syndrome. Toolkit: Unit 1 - How
responsive are schools to the socio-economic challenges. It is important to talk to your doctor about
what you can do to lower your risk. At least six percent of newborns with heart disease are not likely
to survive. With different criteria for inclusion, investigators have reported a prevalence of 2.24%
among infants with a birth defect diagnosed before discharge from the maternity ward or before the
age of 5 days at Boston Hospital for Women 16 and 5.5% 17 from the Texas Birth Defects
Monitoring Program. It has been found that congenital scoliosis usually occurs more in girls than in
boys. But for most birth defects, we don’t know what causes them. The treatment varies according
to the symptoms and severity of birth defects. Phone the nearest genetics laboratory and The infant
should be referred as soon as. The first one is taken after 8 weeks of conception and the second one
is performed between 18 and 20 weeks of gestation to identify for any structural and chromosomal
anomalies. Digital Storytelling for Multilingual Literacy Development: Implications for. With
autosomal dominant It is not uncommon for an infant to be born. Click on your favorite social media
icon below to connect with us today. Obese women tend to have complications during pregnancy
and delivery Medications should be taken during pregnancy only after consultation with your doctor
to find out if there is any link between them and birth defects. Notably, cases considered to be
familial (14.5%) or “multifactorial” (23%) were considered to be of known etiology; however,
definitions were not provided and the inclusion especially of the “multifactorial” conditions is
debatable. When a child has been born with common birth defects that weren’t properly addressed
and treated they can have a lifelong health issue. Through past research some key causes identified
behind birth defects are as follows. The network monitors birth defects among all pregnancy
outcomes (live births, stillbirths, pregnancy terminations) among Utah residents. Transverse
deficiencies are the most common of the limb deficiencies. They may have breathing problems and
often found to have severe learning disability. These are classified based on the affected part of the
body. This condition is often found more in boys as compared to girls and is usually found after
birth. Birth defects SIXTY-THIRD WORLD HEALTH ASSEMBLY 1 April 2010. Students enjoy
having choice of which birth defect they further explore while creating an informational pamphlet.
The main causes of birth defects include the following: Genetic factors like Chromosomal Disorders,
Single Gene Defects and Multiple Gene Defects Consanguinity (when parents are related by blood)
can cause rare genetic anomalies Advanced maternal age is a risk factor to get a child with Down’s
syndrome Micronutrient Deficiencies Lack of Folic acid in pregnant women causes neural tube
disorders. Progress in detecting and characterizing risk factors for birth defects has come mainly
from epidemiologic studies.