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According to a January 2006 press release issued by the charitable organization March of Dimes, every year, worldwide, an estimated eight million children are born with a serious birth defect of genetic or partially genetic origin. This represents 6% of births. Here's an overview of some common types of structural congenital disorders. Congenital Heart DefectsDefinition:
Congenital heart defects include different
conditions that can cause structural abnormalities
in the heart, irregular heartbeats, and abnormal
blood flow.
Prevalence:
Slightly less than 1% of all newborns.
Effects:
Most cases are serious to fatal. Congenital
heart defects are responsible for half of all deaths
from birth defects in children under the age of one.
Causes:
Risk factors include a genetic predisposition
to heart disease, chromosomal abnormalities, drug
use during pregnancy, and maternal infection and
illness.
Treatment:
A small percentage of cases do not require
treatment. However, most babies with congenital heart
defects require surgery and/or medication. Neural Tube DefectsDefinition:
Neural tube defects include defects of
the spine (spina bifida) and brain (anencephaly and
encephalocele). Spina bifida can cause the spine
to be exposed at birth, along with damage to the
lumbar and sacral nerves. Anencephaly prevents the
forebrain and part of the skull and scalp from developing.
Encephalocele is the protrusion of brain tissue and
meninges through a fissure in the skull.
Prevalence:
1 in 1,000 pregnancies.
Effects:
These defects are serious and often life-threatening.
Spina bifida can cause varying degrees of paralysis,
an absence of skin sensation, incontinence, and spine
and limb problems. Babies with anencephaly are stillborn
or die shortly after birth. Encephalocele causes
death or severe retardation in most cases.
Causes:
The causes of neural tube defects are unclear,
although taking folic acid during pregnancy is known
to reduce the risk of these defects. Indeed, according
to an article
published in the September 3, 2005 issue of Pediatrics,
a government decision to add folic acid to enriched
grain products (which began in the late 1990s) has
significantly reduced the incidence of spina bifida
and anencephaly.
Treatment:
There is no cure for neural tube defects.
Most people with spina bifida need corrective surgeries,
techniques to control incontinence, and equipment
to assist in walking. Down Syndrome or Trisomy 21Definition:
People with Down syndrome have three copies
of chromosome 21 instead of the usual two, which
has wide-ranging effects on physical and mental development.
Prevalence:
1 in 700 to 1,000 births.
Effects:
Often associated with impaired cognitive
ability, physical growth, and a distinctive facial
appearance. People with Down syndrome have a higher
risk for congenital heart defects and other diseases.
The effects of Down syndrome are highly variable
and abilities can differ widely between different
people.
Causes:
The risk for Down syndrome increases with
parental age. According to an article
published on August 15, 2000 in American
Family Physician, the risk of having
a child with Down syndrome is 1 in 1,300 when the
mother is 25, 1 in 365 at age 35, and 1 in 30 by
age 45. More recent studies suggest that paternal
age also plays a role. A paper
published in the November 2005 issue of Human
Reproduction reported that men who were
50 or older were four times more likely to father
a child with Down syndrome compared to men aged 20–29.
Treatment:
Down syndrome can be detected during prenatal
screening, but there is no cure. Good medical care,
special education, and a supportive environment can
improve the quality of life for children with Down
syndrome and their families. HypospadiasDefinition:
A defect in male babies where the opening
of the urethra forms on the underside of the penis
(first and second degree) or the perineum (third
degree) instead of at the tip of the penis.
Prevalence:
About 1 in 125 male babies.
Effects:
First degree hypospadias have little effect
on function. If uncorrected, second or third degree
hypospadias can make urination messy and impair sexual
intercourse.
Causes:
Unclear.
Treatment:
Can be corrected with surgery. Orofacial CleftsDefinition:
Defects of the lip and roof of the mouth,
including cleft lip (aka harelip), cleft palate,
and combined cleft lip and palate. A cleft lip is
a dent or gap in the upper lip, and a cleft palate
is a gap in the soft and/or hard palate. A microform
clef is a very small cleft that does not affect function
and doesn't require corrective surgery.
Effects:
If untreated, a serious cleft lip and/or
palate may affect feeding, speech, the development
of teeth, and hearing.
Causes:
Some genetic and environmental risk factors
have been identified. Cleft lip and palate occur
more often in Asian, Latino, and Native American
populations (1 in 500) than in other ethnic groups.
Treatment:
Surgery is usually performed to close the
cleft soon after birth.
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