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
•   Turner’s syndrome

You can find more detailed information about these problems in Special Needs.

Down’s syndrome

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

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.

•   Spina bifida
•   Hydrocephalus
•   Anencephaly
•   Gastroschisis and exomphalos

Spina bifida

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.

Hydrocephalus

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

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.

Gastroschisis and exomphalos

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.