Some of the tests available include for child:
Amniocentesis. For this test, a little of the fluid which surrounds the baby in the womb is drawn out through a needle inserted through the wall of the abdomen. The area is anaesthetised with a local anaesthetic so that the procedure is painless. The test is usually done between the 14 and 18th week of pregnancy and the amniotic fluid is cultured for signs of certain chromosomal abnormalities such as Down syndrome, anencephaly and spina bifida. Because this test reveals the sex of the baby, diseases that affect only males or females such as haemophilia and Duchenne muscular dystrophy can be controlled. Rhesus incompatibility can be assessed, as well as the maturity of the baby’s lungs in case an early birth is advisable (245). There is a small chance of abortion as a result of amniocentesis.
Alpha-fetoprotein test. This is a simple blood test done during pregnancy that can detect the possibility of spina bifida and other neural tube defects. If the alpha-fetoprotein is above a certain level amniocentesis will tell for sure whether the child is affected.
Ultrasound. By ultrasound or sonar scan, a technique for examining the baby in the womb, it is possible to find out whether it is developing normally. Unlike X-rays, ultrasound is safe for use throughout pregnancy, and can indicate the maturity, size and heartbeat of the foetus. Occasionally, in late pregnancy, the sex of the child may be revealed but this is not normally possible. The position and size of the placenta is also shown and this has taken much of the guesswork out of the management of pregnancy. Ultrasound scans are also used to give the position of the baby before amniocentesis in later pregnancy so that the needle is inserted in a safe position.
X-rays. In late pregnancy bone deformities such as anencephaly and microcephaly and abnormal position of the baby can be shown by X-rays which are considered safe at that stage.
Amniography. In this test a dye is injected into the womb and it sticks to the vernix (fatty coating) covering the baby. This enables X-ray pictures to be taken of the outline of the baby to indicate whether it appears normal. When the baby swallows some of the harmless dye the X-ray shows whether there are defects of the intestinal tract. Cases in which this test may be used include polyhydramnios (too much amniotic fluid) which is often associated with defects of the gut.
Foetoscopy. A very fine instrument is inserted into the womb through which the doctor can look at the baby and take sajnples of fluid, skin and blood. Photographs of the baby can also be taken through the foetoscope. But since the safety of this procedure has not been proved it is seldom used.
Anyone who has an inherited disease in their family should be referred to the nearest genetic counselling centre (296) to learn if there is a likelihood of a child being born with the disease. If the counselling service is attached to a provincial hospital costs are very low. If abnormalities are found in the foetus it is possible for a legal abortion to be performed.