First trimester screening

Overview:

What Is First Trimester Screening

First-trimester screening is crucial for mothers between the first and third months of pregnancy. The screening involves a fetal ultrasound test and various blood tests to help identify any type of chromosomal defect in the fetus. The tests don’t actually diagnose the disorders. They cannot tell for certain if the fetus has the problem. However, they help provide insights that doctors can use to evaluate the possibility of the defects and advise further testing. Tests are not the only parameters for providing data to assess. Other factors like the age of the mother and their genetic history assist in determining if the baby is at risk or not. If the combination of investigations indicates that there is a chance of the fetus having one of the defects, the doctor advises further testing to confirm the condition or rule out the possibilities.

The chromosomal defects include:

• Down’s syndrome.

• Trisomy 18

• Trisomy 13

Which Tests Does First Trimester Screening Include:

The first trimester includes various tests to evaluate the overall health of the baby.

•Ultrasound test for fetal nuchal translucency (NT). This test uses ultrasound to examine the back of the baby in terms of excess fluid or the thickening of the skin. These symptoms point toward a defect. 

•Blood tests. The blood tests are used to measure two substances that are found in all the pregnant women.

Pregnancy-associated plasma protein-A (PAPP-A) is produced by the placenta during the early stages of pregnancy. Abnormal levels could indicate that the baby is at an increased risk for a chromosome-related defect.

Human chorionic gonadotropin (hCG). The placenta makes this hormone in the early stages of pregnancy. When the levels aren't normal, it means that the baby may have a chromosome disorder.

•Cell-free fetal DNA screening- This test involves the checking of the DNA of the baby in the mother's blood. The test looks for abnormal chromosomes and problems in the fetus's sex chromosomes. The test however doesn't help detect any structural congenital disabilities, such as spina bifida or problems in the abdominal wall. 

If any abnormality is detected in the first-trimester screening, the doctor advises further testing to diagnose the health condition. Additional testing may include chorionic villus sampling, amniocentesis, or another type of ultrasound test.

Who Needs First Trimester Screening:

First-trimester screening can detect if the baby has a congenital disability. The screening is crucial for all women when they are at the end of the first trimester. 

Cell-free fetal DNA testing may be advised for women who are above the age of 35 years. They are identified to be more at risk. However, it must be noted that the screening tests may be inaccurate when they are performed on women with multiple pregnancies. Meaning if they have more than twins.

The Risks Involved In First-Trimester Screening:

The tests that are involved in first-trimester screening, that is, the blood tests and the ultrasounds, are all low-risk procedures.

But if these investigative tests aren't carried out at the right moment, then there are chances of the results being faulty. For example, the due date can be calculated incorrectly, causing unnecessary anxiety.

•First-trimester screening is not 100% accurate. The test is only used to find whether there is an increased risk of congenital disability. It additionally helps to understand if the mother requires further tests or supervision during the pregnancy period.

•The tests can indicate false-positive results even if the baby is healthy. False-negative results can happen if the baby has a health problem.

The Procedure Details Of First Trimester Screening:

There is no specific preparation needed for the screening tests.

The process is as follows:

•For the ultrasound test- The objective of the transvaginal test is to view the baby. The test involves inserting a transducer with a gel applied over it into the vagina of the mother. The test may cause a little discomfort during the process. 

•For the blood test. The blood tests include taking blood from the veins of the arms of the mother. Before taking the blood, the area is wiped clean with a disinfectant. The blood sample is sent to the lab for testing.

•The Cell-free fetal DNA blood testing may be done as early as nine weeks. 

After the tests, once the results are obtained, the doctor discusses the findings with the mother or the couple. Since the blood tests aren't totally accurate, if the doctor feels further investigation is required, they may prescribe additional tests. 

It is important for the mother undergoing the test to keep in mind the following factors:

The name of the test and why the doctor has prescribed the test.

What will the test results reveal?

What are the risks involved in the procedure?

Who will be performing the test, and what are their qualifications and experience?

Where will the procedure be conducted?

What will be the problem if the test is not taken?

Who to contact to discuss the results after the test?

What are the expenses involved in the test?

Conclusion:

The first-trimester screening is an important set of tests that include a fetal ultrasound test and various investigations of the blood to help find the possibility of the fetus developing any chromosomal defect. These tests are safe and are not very time-consuming. However, they are very helpful in helping the doctors to decide if they need any further investigation.

The mother or the couple needs to be aware of the risks involved and must ask the necessary questions to the doctor to address any concerns they have and ensure that they consult experienced and skilled health professionals.

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