Some antenatal tests check your baby for genetic and congenital abnormalities.
A genetic
abnormalities are caused by faulty information in the baby’s genes: the
fundamental information inherited from parents that programmes the baby
to be the unique individual he or she is. The baby’s genes are passed
on to him at the moment of conception.
A congenital
abnormalities simply means abnormalities that were present at birth. The
abnormalities may have been caused by a problem during the development
as the baby was forming or by some change to a part of the baby that had
formed normally but then due to problems in the womb have been altered.
- Down’s syndrome
- Edward’s syndrome, Patau’s syndrome">Edward’s
syndrome - Edward’s syndrome, Patau’s syndrome">Patau’s
syndrome - Turner’s syndrome
You can find more detailed information about these problems in Special Needs.
People who have Down’s syndrome have an extra bit of genetic information
in each of their body cells. This causes them to have the typical appearance
we associate with someone who has Down’s – short stature, round face,
slanting eyes, smaller ears and a flat facial profile. They may also have
problems with their heart and may later develop problems with their thyroid,
hearing and vision.
People affected by Down’s have a varying degree of learning disability,
which can be moderate to severe. Things have chnaged dramatically for
people with Down’s and many people are able to lead quite independent
lives.
Edward’s syndrome,
Patau’s syndrome
Other genetic conditions which antenatal tests such as chorionic villus
sampling and amniocentesis can diagnose, are Edward’s and Patau’s
syndromes. Like Down’s, these conditions are caused by the baby having
extra bits of genetic information. They are much rarer than Down’s
and children born with them sadly often die in infancy.
Turner’s syndrome affects only girls. In these girls the second
X chromosone is absent or abnormal. It isone of the most common chromosonal
disorders.
You can find more detailed information about these problems in Special Needs.
Babies born with spina bifida have a gap in the bones of their spine so that the spinal
cord which lies underneath is exposed and damaged. There are varying degrees of spina
bifida and some people have only very minor symptoms. Others have much more serious
problems.
Spina bifida often goes hand in hand with hydrocephalus. This is the term used for
excess fluid on the brain which can lead to brain damage. An operation is usually needed
soon after birth.
Anencephaly is a congenital condition where the baby’s skull does
not form properly and her brain may not develop at all. These babies (often
girls) sadly cannot live for long after birth.
These are conditions where the muscle and skin of the baby’s abdomen do not grow
properly so that some of the baby’s internal organs are outside his body.
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