Non-invasive prenatal testing and everything you need to know about it

The Non-Invasive Prenatal Test (NIPT) is a revolutionary advance in prenatal screening. The non-invasive prenatal test is a simple, high-accuracy blood test.

Non-surgical prenatal testing helps diagnose common chromosomal abnormalities in the fetus from the 10th week of pregnancy, for both singleton and twin pregnancies.

Non-invasive prenatal screening can also be combined with other advanced scientific services including, storage of the baby's stem cells from umbilical cord blood at birth.

What is a non-invasive prenatal test and what is its principle?

During pregnancy, some of the baby's DNA travels from the placenta into the bloodstream. A sample of the mother's blood is drawn, and this test checks for DNA in order to determine the number and status of certain chromosomes in the fetus.
Using an advanced technique called "mass parallel sequencing", millions of DNA fragments are analyzed for each sample, accurately counting the number of chromosomes present and determining whether there is an extra or a missing number of copies of these chromosomes in the child.

Non-invasive prenatal screening is also a revolutionary advance in prenatal testing that can study the genetic material of a fetus (DNA) by analyzing the mother's blood.
In the past, studying fetal DNA required more invasive methods such as amniocentesis or biopsies of the placenta, which were not without risks for mothers and their babies.
Non-invasive prenatal screening is a simple, high-accuracy test that helps avoid invasive, deeply invasive techniques to detect certain diseases before birth.
These non-invasive prenatal tests enable you to screen for the most common chromosomal abnormalities that can affect your future baby's health using a simple blood test.

You can do this non-invasive test from the 10th week of pregnancy, for both singleton and twin pregnancies.

Advantages of non-invasive prenatal testing

• One tube of blood is drawn.
• You can perform it as early as 10 weeks of pregnancy (first trimester).
• It gives an accuracy of 99% in diagnosing trisomy 21, 18 and 13 - Down syndrome, Edwards syndrome and Patau syndrome.
• It has the highest success rates.
• Doctors will receive results within 5-7 days.

For whom is a non-surgical prenatal test performed?

Science has developed tremendously at the present time, and the non-invasive fetal DNA examination offers many benefits for diagnosis in the event that the fetus has some chromosomal disorders, as it is used to learn important and accurate information about the health of your developing child in the first three months (ie in the 10th week) of the fetus’s life, With little or no risk to pregnancy. This examination can be performed in Turkey Today.

You may consider this examination as an option for you in one of the following situations:

• You were 35 or older at the time of birth (32 or older in the case of twins)
• If your serum test result is abnormal or “positive”
• If the ultrasound shows concerns or abnormalities in the growth and/or development of the fetus
• May be used by people with a personal or family history of genetic disorders (such as Down syndrome)

In addition, as directed by Australian and international medical societies, all pregnant women, regardless of risk factors, have the opportunity to discuss and make choices regarding non-surgical prenatal testing and other available prenatal screening and diagnostic tests.

Diseases that can be detected by non-invasive prenatal testing

Chromosomes usually come in pairs. Most people have 23 pairs of chromosomes, with one pair determining sex.

Men usually have an XY pair of sex chromosomes, and women usually have an XX pair of sex chromosomes.
Any increase or decrease in the number of chromosomes can lead to mental or physical disabilities, with varying levels of severity.

Non-invasive prenatal tests look for the presence of fewer or more copies of chromosomes, which are often associated with these disabilities.

• The non-invasive prenatal test NIPT accurately detects many diseases such as:

1.  Having an extra copy of chromosome 21 (Down syndrome)
2.  Having an extra copy of chromosome 18 (Edwards syndrome)
3.  Having an extra copy of chromosome 13 (Patau syndrome)
4.  aneuploidy of the sex chromosome (change in number)

As for NIPT 46 (Non-Invasive Prenatal Test 46), it is expanding to include screening of all 23 pairs of chromosomes such as:

1. Examination of chromosomes 1 through 22 (including 21, 18, and 13 tested by the previous screening), to look for changes in number and the loss or increase of small portions of the chromosomes.
2. The search for a specific aneuploidy of the sex chromosome.

Your doctor may have some clinical observations that prompt him to order another test, the NIPT Plus (Non-Invasive Prenatal Test Plus) test. In this case, he will look for very rare genetic syndromes caused by the loss of a very small part of one of the chromosomes.
Here, it should be noted that the NIPT Plus test cannot be performed on twins, and the detection of changes in the number of sex chromosomes is only available for single pregnancies (one fetus).

The non-invasive prenatal test can be done when a woman is at least 10 weeks pregnant, depending on which condition the doctor is looking for. Before the test, the woman undergoes an ultrasound to check the age and development of the fetus. She may also receive counseling to help her prepare for the test results.

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How are women informed of the results of a non-invasive test in Turkey?

Your test report will include one of two possible results for chromosomes 21, 18, 13 and the sex chromosomes. If your test was NIPT 46, you'll also get a result for all of your other chromosomes:

1. Low risk result: This means that the expected number of chromosomes was found.
2. High-risk result: This means that there are too many or too few copies of a chromosome. A diagnostic test is recommended to confirm the result and should be discussed with your doctor.

NIPT test results

Non-invasive prenatal testing detects, but does not diagnose, chromosomal conditions, as the test cannot tell you with certainty whether or not your baby has a chromosomal disorder.

To find out the implications of the non-surgical prenatal test results in Turkey, and to inquire about any problem women face during pregnancy and before childbirth, do not hesitate to contact us.contact us, Bimaristan center Your family is in Turkey.

If the test indicates that your child is at risk of a chromosomal condition, your doctor may recommend further tests to confirm the diagnosis.
These tests may be more invasive and include:

• Amniocentesis: The fetus is surrounded by amniotic fluid, which is a water-like substance that contains embryonic cells. Amniocentesis is a procedure in which a small amount of amniotic fluid (less than 1 ounce) is taken with a fine needle and inserted into the uterus through the abdomen, under Ultrasound guidance, then the fluid is sent to the laboratory for analysis. This test can be performed between the 14th and 20th week of pregnancy, and this process cannot be performed if a premature birth is suspected.
• Chorionic villus sampling: The chorionic villi are small parts of the placenta that are made up of the fertilized egg, so they usually have the same genes as the fetus. For a chorionic villus sampling test, a small sample of chorionic villi cells is taken from the placenta where it attaches to the wall of the uterus. Either via the vagina and cervix or through the abdomen, the chorionic villus sample is then sent to a laboratory where the cells are grown in a special fluid and tested after a few days. This test can be done between the 10th and 13th weeks of the fetuses' life.

These examinations and tests help to determine the genetic disorder that the fetus may suffer from. They are also used to test paternity, diagnose any infection in the fetus, and ensure the maturity of its lungs.

In the end, we find that the non-surgical prenatal test gives a great advantage over other invasive or surgical methods, as it detects 99% chromosomal abnormalities in the fetus, so it is recommended to conduct it before birth to know what the family will face with the newborn.

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Sources:

1. Medline Plus
2. Pregnancybirthbaby
3. americanpregnancy