The first-trimester screening is a prenatal test that provides early information about the risk of certain chromosomal diseases in the baby, especially Down’s syndrome (trisomy 21) and the different sequence of chromosome 18.

Screening is not just to check the abnormality like Down syndrome; it can also help identify other fetal abnormalities like heart disease. This screening test does not identify neural tube defects.

What is a first-trimester screening test?

Before performing a test, it is imperative to keep in mind. It will help decrease the anxiety that may accompany the outcome. Screening does not only see the effects of blood tests. They compared many different factors (including age, race, blood test results, etc.) and then estimated a unique chance of developing an abnormality.

How the first-trimester screening test performed?

It is like the first-trimester blood test. In blood, screening tests blood draws from the mother taking around 5 to 10 minutes. The blood sample is then delivered for testing to the lab. A sonographer or consulting physician and takes perform an ultrasound for 30 to 50 minutes. Evaluate the results in one week of the test.

What kind of risks and side effects for the mother or baby can face?

Apart from blood draw discomfort, a mother or a baby does not face any risk associated with screening in the first trimester. The false-positive rate of this test is 5%. Parents should be alert of the chance of receiving any results and then find that the baby is normal after further testing.

When the first-trimester screening ultrasound is should perform?

A first-trimester screening ultrasound should perform among the 11th and 13th weeks during pregnancy. As you know, this test is considered early; it is often used to determine whether the mother should think of other diagnostic tests, like chorionic villus sampling or second-trimester amniocentesis.

Why you should consider the screening test

One benefit of performing first-trimester screening ultrasound is that you will come to know about the dangers of Down syndrome and trisomy 18 early in pregnancy. Both early pregnancy and maternal serum screening can detect Down syndrome and trisomy 18, and maternal serum screening can identify neural tube defects.

GOALS of this screen: To increase sensitivity, decrease false-positive rates. To decrease number of unnecessary invasive prenatal diagnosis tests. NOT to increase number of elective abortions. U/S measurements (NT) and free B-hCG, PAPP-A.

What does the result mean?

Always remember, the first-trimester screen is a test, not a pinpointing process. This test indicates that the mother may be pregnant with a baby with an inherited disease. Many pregnant who had undergone odd tests afterward discovered that the test proved to be wrong.

In each part of the “Early Pregnancy” screen, you will not get specific quantitative values. Instead, your caretaker will tell your results whether results are “normal or not,” and a genetic counselor will determine the risk point for you. The doctor will provide you with risk factors for chromosomal abnormalities (e.g., 1/250, 1/1300) based on the test results.

The test results require additional testing to make a diagnosis if you get an abnormal result. Your genetic counselor will discuss the results with you and determine diagnostic tests, such as CVS or amniocentesis. Further consultation may be helpful.

First-trimester screening cost

It is not yet considered a standard of care, so it may not be covered by insurance. Its cost is about $500.

Reasons for additional testing

Early pregnancy screening can help find around 84% of babies with Down syndrome, 5 out of every 6 babies, and about 80% of babies with trisomy 18 or 4 out of 5 babies.

  • Extra chromosomes in the developing baby cause Down syndrome (also called trisomy 21). It can cause mental retardation and fatal heart disease. Out of every 600 babies, one has Down syndrome. Although babies with Down syndrome mainly occur in older women, it can occur at any age.
  • Extra chromosomes in the developing baby may cause trisomy 18. Few babies with trisomy 18 survive. Trisomy is born at 18 years of age in every 6,000 babies. It can cause mental retardation, heart imperfections, slow growth, and some other kind of problems.

Performing further tests will allow confirming the diagnosis and then providing you with specific opportunities:

  • Seek possible interferences that may exist (for example, fetal surgery to treat spina bifida)
  • Start thinking to plan for children with extraordinary needs
  • Start to address expected lifestyle modifies
  • Look for some support groups and resources
  • Decide to bring your child to the last trimester

For various reasons, some individuals or couples may choose not to take the test or other tests:

  • Regardless of the result, they are satisfied with the result
  • Unable to decide whether to hold a child due to personal, moral, or religious reasons
  • Some parents decide not to permit any tests that might harm the developing infant

It is essential to talk about the threats and advantages of screening and other tests with your Dr. Your healthcare provider can guide you through assess whether the results’ benefits will be more important than any risks associated with the process.

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