Screening For Birth Defects

What is a birth defect?
Birth defects are abnormalities in the body that are present at birth. Birth defects can affect the appearance, or function of the body, or both. Most birth defects are only mild, but some can be serious. Babies with birth defects may need surgery or medication.
What is a screening test?
Screening is a test that can provide information about the risk of a pregnant woman having a baby having a birth defect. However, not all types of birth defects can be screened before birth.
What birth defects can be detected by a screening test?
Neural tube defects: Inadequate closure of the neural tube in a fetus can cause spina bifida or cerebral anomalies (partial or complete loss of the skull and brain).
Abdominal walls This malformation is called a abdominal wall hernia

Another defect occurs when the tissue surrounding the umbilical cord loosens, allowing the internal organs of the abdominal cavity to escape, called.


Screening For Birth Defects


: This defect occurs because the heart chambers (the ventricles, the atria) or the blood vessels of the heart develop abnormally.
: Down syndrome occurs due to an excess of chromosome 21, causing mental retardation, children with abnormal facial features and may have a number of other diseases such as congenital heart disease.
Trisomy 18 (Edward syndrome): occurs due to an excess of chromosome 18, causing severe mental retardation accompanied by a number of other malformations, which can be fatal for children.
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Who should be screened?
Screening should be performed in all pregnant women to assess the risk of having a baby with a birth defect or genetic condition. If the screening results show a high risk of having a baby with a malformation, in the next step, a number of other tests will be recommended to confirm the diagnosis.
The screening test results only have a high or low risk of developing a birth defect, not a diagnostic value. Therefore, in some cases babies are still normal despite the high-risk screening results and vice versa, in a few cases even though the mother is at low risk, she still has a birth defect
born.


Screening For Birth Defects


What screening tests are done in the first quarter of pregnancy?
Screening tests in the first quarter of pregnancy include blood and. These tests can be done concurrently or in a step-by-step procedure. Some women may not need further tests.
Screening in the first quarter is done from 11th to 14th week of pregnancy, to assess the risk of having a baby with Down syndrome and trisomy 18 by measuring the concentration of the following two substances in the blood mom:
PAPP-A (Pregnancy-associated plasma protein A): plasma A protein associated with pregnancy.
hCG (human chorionic gonadotrophin): chorionic hormones in humans
Also during this period, the woman will have an ultrasound to measure the opacity of the neck skin of the fetus, this test to measure the thickness of the neck of the fetus. If there is an increase in this index, the fetus is at high risk for Down syndrome, trisomy syndrome 18 and some other genetic diseases related to chromosomes.
The effect of the screening test in the first quarter of pregnancy
In the first trimester of pregnancy screening, the measurement of the nuchal translucency, along with the blood test and maternal age, will be used to assess the risk of fetal deformities. The combination of these screening tests helps detect 82-87% of Down syndrome.


Screening For Birth Defects

As the nuchal translucency increases, the fetus is likely to have congenital heart disease or others. In this case, the doctor will be able to recommend a more detailed ultrasound examination by the 20th week of pregnancy.
What screening tests are done in the second quarter of pregnancy?
In the second quarter of pregnancy, a test called a "multiple marker screening" is recommended to screen for Down syndrome, trisomy 18 and neural tube defects. This test measures the concentration of 3 or 4 substances in the mother's blood, including:
Alpha-feto protein (AFP): A protein produced by the fetus, present in amniotic fluid, fetal blood and a smaller amount in maternal blood.
Estriol: is a hormone produced by the placenta and the fetal liver.
Human chorionic gonadotrophin (hCG): is a hormone produced by the placenta.
Inhibin A: is a hormone produced by the placenta.
This test kit is called a triple screen if it measures only the first three substances (AFP, Estriol, hCG), or is called a quadruple screen if it is measured.


Screening For Birth Defects

of all 4 substances. Triad screening test helps detect Down syndrome in 69% of cases, while triad screening test helps detect up to 81% of cases. The AFP test helps detect neural tube defects in 80% of cases. These tests are usually done t.

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