Double Marker Test Helps Prevent Down Syndrome While in the Womb

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dr. Gita Permatasari

Dr. Gita Permatasari serves at RSPP as a General Practitioner, Medical Check Up Examiner, and Lactation Consultant. She is also the Patient Services Manager who coordinates with specialist doctors and nurses regarding patient conditions, including coordinating with insurance regarding patient guarantees. Previously, Dr. Gita serves patients at the Ajiwaras Clinic, Cilandak KKO.

A team of certified and recognized health professionals approves all information related to pregnancy health and children's health, and development in theAsianparent. This team includes OB/GYNs, pediatricians, infectious disease specialists, doulas, lactation consultants, editorial professionals, and contributors with specialty licenses.

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Birth defects are caused by extra chromosomes in the child's body. How to find out with a double marker test.

When confirmed pregnant, of course, you want to know the condition of the fetus in the womb immediately. Double marker test is one that can be chosen.

What is  Double Marker Test ?

Double marker test dapat dilakukan pada trimester 1 kehamilan

The double marker test is an examination carried out in the first trimester to detect abnormalities in the development of the baby’s chromosomes .

Reported from Healthline, this test functions to measure levels of PAPP-A (pregnancy-associated plasma protein-A) and hormones.beta hCG(beta-human chorionic gonadotrophin). The results will detect whether or not there is an abnormality in the chromosomes.

Normally there are 23 pairs of chromosomes in a female fetus and 23 pairs of chromosomes in a male fetus. However, in some pregnancies there is trisomy, a condition where there is an extra chromosome so that the total becomes 47 instead of 46.

Trisomy is a chromosomal condition in which there is an extra chromosome, such as the following:

  • Down syndrome . This common trisomy is also called trisomy 21 because there is an extra copy of chromosome 21.
  • Trisomy 18 and trisomy 13. These common chromosomal abnormalities involve an extra copy of chromosome 18 (Edwards syndrome) or chromosome 13 (Patau syndrome).

Levels of hCG and PAPP-A may be higher or lower than “normal” in pregnancies with these chromosomal abnormalities.

If this happens, the fetus is at risk of Down Syndrome, Patau syndrome, spina bifida or birth tube defects to birth defects. Although predictive, the double marker test can detect with reliable and fairly accurate results.

Why does this test need to be done?

A study quoted from Kjkhospital said that almost one in twenty pregnancies give birth to a child with birth defects such as anatomical abnormalities to mental retardation. In some other couples, there is a higher chance if one of the parents has a congenital disorder.

To find out the condition early, mothers can do a double marker test . If the fetus is declared to have an abnormality, they can get early treatment based on information about their health.

This test is also highly recommended if the mother’s age during pregnancy is 35 years or above or if an abnormality is found in the ultrasound results .

Why is the Double Marker Test Necessary?

As explained above, this screening is done in the first trimester, although it is not mandatory. This screening is recommended (and others such as cell-free DNA testing) if you are over 35 or may be at increased risk of chromosomal problems, such as if you have a family history of certain conditions.

It is important to remember that the results only tell you whether there is an increased risk of trisomy or not. So these results do not definitively determine whether the baby has other abnormalities or not.

Before deciding whether you want this test, you might ask yourself what the results might mean for you in the long term, such as:

  • Do you want to know about the possibility that a disorder makes your anxiety easier or worse?
  • Would you consider more invasive testing if you receive results that indicate an increased risk?
  • Will the results change the way you care for your pregnancy?

It’s all about personal choice and your own health history, so there’s no right or wrong answer to your question.

When is this test performed?

Double marker test dapat dilakukan pada trimester 1 kehamilan

Generally, double marker test can be done at two times of pregnancy. First, in the first trimester, you can do it between 9 weeks and 13 weeks. Second, the test can be done when the pregnancy has reached 15 weeks to 17 weeks. 

How Much Does It Cost?

The cost of doing a double marker test actually varies. The amount of the cost also depends on where you do it. The cost of this test ranges from Rp25,000 to Rp600,000.

How does this work?

Double marker test dapat dilakukan pada trimester 1 kehamilan

In the double marker test, it does not actually require you to fast. So you can go directly to the health service you are aiming for.

The procedure begins with a blood draw from a vein by a nurse. The blood will then be examined in a laboratory and later sent to a doctor.

At that time, don’t forget that you also have to tell what happened during the examination. The risk is relatively minimal, making the pain from the injection only cause a little bruising in the part where the blood was taken. 

Lab results will vary in turnaround time. But in general, you can expect results in about 3 days to a week. You may want to ask if the clinic will contact you, or if you need to call to get your results.

Standard Reference Results 

There are 3 categories in the referral results that need to be considered, namely low, medium or high risk. On a low risk scale, it can be said that the possibility of the baby having a chromosomal abnormality is small.

If the results are moderate, you will be advised to do further testing if there are other indicators such as family history, age, etc. or you want to review it again for other reasons.

Abnormal Results 

If the results of the second test come back with a medium or high risk status, it is recommended to discuss it with a genetic counselor. In addition, to be more accurate, you can run several tests such as the Non-Invasive Prenatal Test ( NIPT ), Amniocentesis, or Chorionic Villus Sampling (CVS).

Because the double marker test is performed early in pregnancy, the information gives you time to make important decisions regarding further testing, medical care, and overall management of your pregnancy and delivery.

Are There Any Risks Associated with This Test?

There are no risks associated with the double marker test. It is a routine, non-invasive blood test. But of course, be sure to follow your doctor’s instructions and contact your healthcare provider if you have any concerns before having this test.

DifferenceDdouble Markers Test with NT Test 

Double Marker Test Helps Prevent Down Syndrome While in the Womb

Double marker test is a blood-based test while Nuchal translucency (NT) is an examination performed via ultrasound. Information from both can be an effective way to detect potential abnormalities.

The NT scan uses sound waves to collect real-time images of the baby . It is performed around the same time as the double marker test . 

At the end of the first trimester, the fluid under the skin on the back of the fetus’ neck will be measured. The doctor will also assess the development of the nasal bone, which can be another indicator of trisomy.

These measurements are combined with blood results and age-related risks. They are all calculated to produce the potential for birth defects .

Things to Watch Out For

Prenatal screening tests for fetal abnormalities are optional. But if you do have them, it’s important to make an informed decision about prenatal testing, especially if there’s a fetal condition that can’t be treated.

Before proceeding, here are some questions to consider and consider:

1. What will you do with the test results?

Test results within the normal range can ease your anxiety. However, if prenatal testing shows that your baby may have a birth defect, you may be faced with a heartbreaking decision—such as whether to continue the pregnancy. On the other hand, you may welcome the opportunity to plan your baby’s care in advance.

2. Will this information affect your prenatal care?

Some prenatal tests detect problems that can be treated during pregnancy. In other cases, prenatal tests alert health care providers to a condition that requires immediate treatment after birth.

3. How accurate are the results?

Prenatal screening is not perfect. That means the rate of inaccurate results, known as false negatives or false positives, can vary from test to test.

4. What are the risks?

Consider the risks of certain prenatal tests – such as anxiety, pain, or possible miscarriage – versus knowing the results.

The decision to have prenatal testing is up to you. If you have concerns about prenatal testing, discuss the risks and benefits with your doctor and healthcare provider. You may also meet with a genetic counselor to help you choose a test and understand the results.

But what is clear is that evaluating your options will help you make the best decision for you and your baby.

***

Republished with permission from theAsianParent Indonesia

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