All about Pregnancy

       Prenatal testing  
 



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by Heisje de Jong,
Certified Lactation Consultant

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Apart from the routine blood and urine tests, certain other tests may be done during your pregnancy.
Some of these tests can be extremely useful for women at higher risk of carrying a child with certain birth defects. It is important however that you know exactly what the tests involve, how they are done and what are the risks involved.

      

ULTRASOUND

Using sound waves, an ultrasound scan is done to obtain a picture of the baby in the uterus. There are many reasons why ultrasound scans are done:

· To determine the baby's exact age if you are unsure about the date of your last period.
· To determine certain abnormalities.
· To evaluate the health of the baby.
· To diagnose twins.
· To determine with accuracy the position of the baby.
· To assess the condition and position of the placenta, for example if you have been bleeding.
· To locate the fetus and the placenta before amniocentesis.

As far as we know now ultrasound is safe for the baby, although questions have been raised about the possible effects on the baby's hearing. It makes sense therefor to use ultrasound only when necessary and not to make fun pictures for the photo album or just as a routine. When ultrasound is used, the length of time you are exposed should be limited.

AMNIOCENTESIS

Amniocentesis is the withdrawal of a sample of amniotic fluid from around the baby. Under a local anaesthetic and guided by ultrasound a needle is inserted through the abdominal wall into the uterus and some fluid is obtained. This fluid is full of cells from the skin and other organs of the baby. It can be used to detect abnormalities of the central nervous system (spina bifida and anencephaly) or chromosome disorders such as Down syndrome.

Because of the small but definite risk of miscarriage, there is no point in having amniocentesis unless there is an increased risk of producing a baby with abnormalities. Most Western countries now offer amniocentesis to pregnant women who are 35 and over. Amniocentesis is also often done if the serum APF of the mother is raised, if the parents have had a previous child with chromosomal defects or if the parents carry certain genetic disorders.

Amniocentesis is usually done at 16 weeks or later. One of the major disadvantages of amniocentesis is that if you choose to have an abortion, following abnormal results, the pregnancy will have advanced to 19 or 20 weeks (it takes about 2-3 weeks before the test results come back). It is always a difficult decision to have an abortion. If however that decision must be made at 20 weeks and you are already feeling the baby moving than it is even harder. Women in this situation need a lot of support from their family and they should be offered counseling.

APF SCREENING

Alpha-feto-protein (APF) is a substance produced in the early phases of pregnancy by the yolk sac of the embryo and later on by the fetal liver. It is normally present in the blood of all pregnant women. It reaches its highest level at the 18th week of pregnancy. An AFP test can be simply performed by doing a blood test by the mother.

Abnormal high levels of AFP can indicate a possibility of spina bifida in the baby. There are some other reasons why the amount of AFP is abnormally high. If your dates are wrong and the pregnancy is more advanced than you think AFP levels may seem high. If you are expecting twins, your AFP levels are also raised. In both cases, ultrasound can be used to tell the real age of the baby and whether you are expecting twins. If the AFP level appears to be high for no apparent reason another blood test may be done to double-check. If the level is then found still high, you will probably be offered amniocentesis. Fortunately, more than 95% of the pregnant women with raised levels of AFP deliver healthy babies.

CHORIONIC VILLI SAMPLING (CVS)

CVS is used to detect genetic or chromosomal defects in the fetus early in pregnancy, at about 10 weeks. CVS is done, under ultrasound guidance, by inserting a long thin tube into the uterus to obtain fetal tissue for chromosome analysis. The tissue is taken from the early placenta. The test is done either through the vagina and the cervix or the abdominal wall.

The results from the test are available sooner than with an amniocentesis, but the rate of miscarriage is slightly higher and the results may not be so accurate.

CVS is, like amniocentesis, offered to women who are at higher risk of carrying a baby with chromosomal disorders like Down syndrome. Furthermore, it is offered to parents who carry certain genetic disorders and to women who previously had a baby with a chromosomal abnormality. CVS can not be used to detect neural tube defects.

The advantage of CVS over amniocentesis is that it can be performed earlier in pregnancy and the test results are available earlier. If there is an abnormality detected and you decide to have an abortion, it is still early enough to have a curettage operation. In addition, at this early stage you have not felt the baby moving yet. The disadvantage of CVS is that the miscarriage rate is slightly higher than with an amniocentesis.

UMBILICAL VEIN SAMPLING

During an umbilical vein sampling a needle is passed through the skin and uterus of the pregnant woman and, under guidance of ultrasound, into the blood vessel of the baby, usually in it's umbilical cord, to withdraw blood. Fetal blood sampling can be done from 18 weeks of pregnancy onwards. The results of the blood test are available in a few days.

Reasons for having an umbilical vein sampling include:

· To check for sickle-cell anaemia or haemophilia.
· An abnormality found on ultrasound that may be the result of an underlying chromosomal disorder.
· Some intra-uterine infections, e.g. toxoplasmosis.
· A baby with reduced growth, to test for underlying chromosomal abnormality or for oxygen and carbon dioxide levels in the baby's blood.
· A major increase or decrease in the amniotic fluid volume.

The complications that can occur are potentially the same as for amniocentesis. Other complication is bleeding from the cord after withdrawal of the needle.

Whatever test you need to undergo during your pregnancy, make sure the whole procedure and the risks involved are explained to you. Write down questions that you want to ask and do not be afraid that you take up too much time. Remember you are asking information about procedures done on your body and concerning your baby.