Overview of Birth Defects
Birth defects, also called congenital anomalies, are
physical abnormalities that occur before a baby is born. They are usually
obvious within the first year of life.
The cause of many birth defects is unknown, but infections,
genetics, and certain environmental factors increase the risk.
Before the baby is born, the diagnosis may be based on the
mother's risk factors, the results of an ultrasound, and sometimes blood tests,
amniocentesis, or chorionic villus sampling.
After the baby is born, the diagnosis may be based on a
physical examination, imaging tests, and blood tests.
Some birth defects can be prevented by maintaining good
nutrition while pregnant and avoiding alcohol, radiation, and certain drugs.
Some birth defects can be corrected with surgery or managed
with drugs.
Birth defects can involve any part of any organ in the body,
including the following:
- Bones, joints, and muscles
- Brain and spinal cord
- Digestive tract
- Heart
- Urinary tract and genitals
- Some birth defects are more common than others.
Birth defects are the leading cause of death in infants in
the United States, and some cause the death of the fetus, causing miscarriage
or stillbirth.
A birth defect is evident in about 7.5% of all children by
age 5 years, although many of these are minor. Major birth defects are evident
in about 3 to 4% of newborns.
Several birth defects can occur together in the same infant.
Causes of and Risk Factors for Birth Defects
It is not surprising that birth defects are fairly common, considering the complexities involved in the development of a single fertilized egg into the millions of specialized cells that constitute a human being. Although the cause of most birth defects is unknown, certain genetic and environmental factors increase the chance of birth defects developing. These factors include exposure to radiation, certain drugs
Some risks are avoidable. Others occur no matter how
strictly a pregnant woman adheres to healthful living practices. Many birth
defects develop before a woman knows she is pregnant.
Exposure to harmful substances (teratogens)
A teratogen is any substance that can cause or increase the
chance of a birth defect. Teratogens include
Radiation (including x-rays)
Certain drugs
Toxins (including alcohol)
Most pregnant women who are exposed to teratogens have
newborns without abnormalities. Whether a birth defect occurs depends on when,
how much, and how long the pregnant woman was exposed to the teratogen (see
Exposures During Pregnancy).
Exposure to a teratogen most commonly affects the fetal
organ that is developing most rapidly at the time of exposure. For example,
exposure to a teratogen during the time that certain parts of the brain are
developing is more likely to cause a defect in those areas than exposure before
or after this critical period.
Nutrition
Keeping a fetus healthy requires maintaining a nutritious
diet. For example, insufficient folic acid ( folate) in the diet increases the
chance that a fetus will develop spina bifida or other abnormalities of the
brain or spinal cord known as neural tube defects. Cleft lip (a separation of
the upper lip) or cleft palate (a split in the roof of the mouth) is also more
likely to develop.
Obesity in the mother also increases the risk of a neural
tube defect.
Genetic and chromosomal factors
Chromosomes and genes may be abnormal. These abnormalities
may be inherited from the parents, who may either be affected by the
abnormalities or who may be carriers of the genes that cause the abnormalities
(see Overview of Chromosome and Gene Disorders). Carriers are people who have
an abnormal gene for a disorder but who do not have any symptoms of the
disorder.
However, many birth defects are caused by new chromosome
abnormalities or gene mutations that arise in the fertilized egg and were not
inherited from the parents.
Birth defects caused by genetic factors often include more
than just an obvious malformation of a single body part.
Infections
Certain infections in pregnant women can cause birth defects Whether an infection causes a birth defect
depends on the age of the fetus at the time of the exposure to the infection.
The infections that most often cause birth defects are
- Chickenpox (varicella)
- Cytomegalovirus
- Erythema infectiosum (parvovirus B19 infection, fifth disease)
- Herpesvirus
- Rubella (German measles)
- Syphilis
- Toxoplasmosis (which can be transmitted in cat litter)
A woman can have one of these infections and not know it
because some of these infections can cause few or no symptoms in adults.
Diagnosis of Birth Defects
Before birth, ultrasonography and sometimes magnetic
resonance imaging, blood tests, amniocentesis, or chorionic villus sampling
After birth, physical examination, ultrasonography, computed
tomography, magnetic resonance imaging, and blood tests
Before birth
Before birth, doctors assess whether a woman is at increased
risk of having a baby with a birth defect ( Prenatal Diagnostic Testing). The
chance is higher for women who have the following risk factors:
Older age
Have had frequent miscarriages or stillbirths
Have had other children with chromosome abnormalities or
birth defects or who died in infancy for unknown reasons
These women may need monitoring and special tests to find
out whether their baby is developing normally.
Increasingly, birth defects are being diagnosed before the
baby is born.
Ultrasonography of the fetus is commonly done during
pregnancy. Magnetic resonance imaging (MRI) of the fetus may also be done when
indicated. These imaging tests can often detect specific birth defects.
Sometimes blood tests can also help. For example, a high
level of alpha-fetoprotein in the mother's blood may indicate a defect of the brain
or spinal cord or certain other organs (see Second-Trimester Screening). More
recently, doctors are using a test called cell-free fetal DNA analysis. In this
test, a sample of a pregnant woman's blood is analyzed to determine whether her
fetus has certain genetic disorders. This test is based on the fact that the
mother's blood contains a very small amount of DNA (genetic material) from the
fetus. This test is called noninvasive prenatal screening (NIPS). NIPS can be
used to detect an increased risk of trisomy 21 (Down syndrome), trisomy 13, or
trisomy 18 and certain other chromosome abnormalities. Doctors usually do
further testing when an increased risk of a gene abnormality is detected.
Amniocentesis (removing fluid from around the fetus) or
chorionic villus sampling (removing tissue from the sac around the developing
fetus) may help confirm a suspected diagnosis. Genetic testing is done on the
samples taken during these procedures.
After birth
After birth, the doctor does a physical examination of the
newborn. During this examination, the doctor examines the newborn's skin, head
and neck, heart and lungs, and abdomen and genitals and assesses the newborn's
nervous system and reflexes. Some newborns have a physical appearance that
suggests a certain disorder.
In the United States, most newborns undergo routine
screening blood tests to detect a number of metabolic disorders and genetic
disorders.
Imaging tests, such as ultrasonography, computed tomography
(CT), and magnetic resonance imaging (MRI), may be done based on the results of
the physical examination and screening tests.
Treatment of Birth Defects
Sometimes surgery or drugs
Abnormal chromosomes or genes cannot be corrected.
Surgery can correct or help some birth defects. Drugs and
surgery can be used to manage the symptoms caused by other defect
- CORONA VIRUS
- MONKEY POX
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- FIBROID
- INFERTILITY
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- OVARIAN CANCER
- VAGINAL BACTERIA
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- BEST DAYS OF CONCIEVING
- MUCUS AFTER OVULATION
- FOODS FOR ERECTILE FUNCTIONS
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- U.T.I IN PREGNANCY
- STROKE RISK
- EAT THIS NOT THAT
- HOOKWORMS INFECTION
- OMEGA 3 BENEFITS
- FASTING
- WEIGHT LOSS TIPS
- vitiligo
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- HOSPITAL INFECTIONS
- WEST NILE VIRUS
- YELLOW FEVER
- EYE DISEASE
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- STRESS
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- INSOMNIA (SLEEPING PROBLEMS)
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- COMPONENTS OF BLOOD
- BLOOD DISORDER
- LABORATORY TEST OF BLOOD DISORDER
- BONE MARROW EXAMINATION
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- SNAKE BITE
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- DATES
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