Birth Defects in Newborn Babies

Birth Defects in Newborn Babies

A birth defect is a physical problem
that is present at birth (congenital). Birth defects may cause physical or mental
problems,
and some can be fatal. There are over 4,000 known birth defects. Other terms used
for birth
defects include congenital abnormalities, anomalies, and malformations.

Birth defects may be caused by inherited (genetic) problems or by environmental things
such as exposure to certain toxic substances during pregnancy. Some birth defects
can be linked to a direct cause. Other reasons are not as clear. More than 2 in 3
birth defects have no known cause.

Some birth defects are more common
than others. The more common types are described below.

Cleft lip and cleft palate

Cleft lip and cleft palate are
problems of the mouth and lip. They affect about 1 in every 1,000 births. Cleft lip
and
cleft palate develop early in pregnancy when the sides of the lip and the roof of
the
mouth do not fuse together as they should. Cleft lip and cleft palate are caused by
several genes inherited from both parents. They are also caused by environmental things
that scientists don’t yet fully understand.

Cleft palate

Cleft palate happens when the
roof of the mouth does not completely close. This leaves an opening that can extend
into the nasal cavity. The cleft may be on either side of the palate. It can extend
from the front of the mouth (hard palate) to the throat (soft palate). Often the
cleft will also include the lip. Cleft palate is not as noticeable as cleft lip
because it is inside the mouth. It may be the only abnormality in the child. Or the
child may also have cleft lip or other syndromes. In many cases, other family members
have also had a cleft palate at birth.

Cleft lip

Cleft lip happens when the lip
doesn’t completely form in the womb (uterus). How serious the cleft lip is can vary
greatly. The child may have a mild form, such as a notching of the lip. Or the child
could have a severe form, with a large opening from the lip up through the nose. As
a
parent, you may find it stressful to adjust to the obvious problem of the face,
because it is so easily noticed.

The most common problem
with either defect is feeding your baby. Your baby may have problems sucking because
their lips and roof of the mouth can’t close normally. You can use special nipples
and feeding methods to help your baby get good nutrition. Cleft lip and cleft palate
may also cause difficulties with speech and language because of the problems in the
mouth. Other problems that are caused by these defects include ear infections and
dental problems.

Treatment for cleft lip and cleft palate includes surgery. A cleft lip can be repaired
within the first several months of life. Cleft palate repairs are usually done when
the baby is 9 to 18 months old, but before the age of 2.

Clubfoot

Clubfoot is a foot problem present
at birth. It affects the bones, muscles, tendons, and blood vessels and can affect
one
or both feet. The foot is usually short and broad in appearance. The heel points
downward, and the front half of the foot (forefoot) turns inward. The heel cord
(Achilles tendon) is tight. The heel can appear narrow, and the muscles in the calf
are
smaller compared with a normal lower leg.

It occurs in about 1 to 3 in every 1,000 live births and affects boys twice as often
as girls. Both feet are affected in 30% to 60% of all cases.

Many things may cause this birth
defect. The cause may be genetic, but it usually isn’t known. Or it may be how the
baby
is positioned in the womb. Or it could be a combination of factors. Specific treatment
will be determined by your child’s healthcare provider. The goal is to straighten
the
foot so that it can grow and develop normally. Treatment for infants may include placing
a series of casts on the foot to help stretch the soft tissues and return the foot
to a
normal position. Casting will correct clubfoot in most babies. Other babies may need
surgery to help correct the position of the foot.

Hypospadias

Hypospadias is a birth defect in
which the male urine tube (urethra) opening is not located at the tip of the penis.
With
hypospadias, the urethral opening may be located anywhere along the urethra but is
most
commonly along the underside of the penis near the tip. As the baby develops in the
womb, the urethra doesn’t grow to its complete length. Also, the foreskin doesn’t
develop completely. This can leave extra foreskin on the topside of the penis and
no
foreskin on the underside of the penis. The end of the penis may be curved downward.

Hypospadias is a disorder that occurs in about 5 out of 1,000 baby boys. Some baby
boys who have other health problems like undescended testes or inguinal hernias may
also have hypospadias. In very rare cases, a baby girl may have hypospadias. The opening
of the urethra enters into the vagina.

Hypospadias can be repaired through
surgery. Usually the surgical repair is done when the baby is 6 to 12 months old.
At
this time, the penis is not growing very much. The baby should not be circumcised
at
birth. This is because the extra foreskin may be needed for the surgery.

Developmental dysplasia of the hip

Developmental dysplasia of the hip
(DDH) is a condition of the hip joint that is present at birth. It occurs in 1 to
2 of
every 1,000 live births. The hip joint is created as a ball and socket joint. In DDH,
the hip socket may be shallow. This lets the “ball” of the long leg bone (femoral
head)
slip in and out of the socket. The “ball” may move partially or completely out of
the
hip socket. Many things may cause this birth defect. Both genes and the environment
may
be part of the cause. All newborn babies are screened in the hospital for this hip
problem before they go home. But because DDH may not be discovered until later, they
will also be screened at their regular checkups after leaving the hospital.

The goal of treatment is to put the femoral head back into the socket of the hip so
that the hip can develop normally. Treatment for infants may include having the baby
wear a special harness to hold the hips in place. Or the baby may be placed in a cast.
Some babies may need surgery.

Congenital heart defects

Congenital heart defects are problems in the baby’s heart structure and function.
Often a defect affects how blood flows through the heart and out to the body. The
defects can range from mild to severe.

They are likely caused by a
combination of genes and things in the environment. Congenital heart defects are the
most common type of birth defect in the U.S. They affect about 8 of every 1,000
babies.

Some congenital heart defects don’t need to be treated. Some people with heart defects
will just be monitored throughout their life. Sometimes, a child may need surgery
to repair a defect. This may be needed right away after birth or later in life if
complications develop.

Neural tube defects

Neural tube defects are a group of
disorders that occur early in the development of the baby in the womb. They happen
when
the neural tube doesn’t form correctly. The neural tube is a group of cells in the
embryo that will become the spinal cord and the brain, and the bone and tissues around
them. In open neural tube defects, the tube doesn’t close fully. The spinal cord and
tissues are left exposed. The most common form of this defect is spina bifida
(myelomeningocele). Babies with neural tube defects may have nerve damage and paralysis.
In another type, the brain and skull do not develop (anencephaly). Babies with
anencephaly do not survive.

There is no cure for neural tube
defects. Treatment for affected babies depends upon the type of defect and how serious
it is. Women can help prevent neural tube defects by taking 400 mcg of folic acid
before
and during pregnancy. This is the amount usually found in prenatal vitamins.