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Is My Amniocentesis History Confusing?


Dear expectant mothers,

The pregnancy process is one of the most special and responsible periods in your life. It will be a great advantage for you to spend this process as easy and understandable as possible with your gynecologist and obstetrician. In this direction, you will be able to evaluate your baby's risk of Trisomy and how it can be determined, according to the information you will receive from your doctor.


NIFTY (Non- Invasive Fetal Trisomy) Test, ie non-invasive fetal trisomy test, allows you to more clearly detect whether your baby has Trisomy 21, Trisomy 18 or Trisomy 13 compared to current methods. Information on what trisomy is and how it can be detected will be given. Do not hesitate to share your personal situation or any question you may have about this test with your doctor.


What Is Trisomy and How Does It Develop?

Trisomy is the third time the chromosome information, which normally comes from 2 pieces, one from the mother and one from the father, takes place in the cells. This extra chromosome, that is, DNA information, causes various genes to be expressed not twice but 3 times at the cellular level, thus causing anomalies in the production of various substances. When these anomalies at the cellular level reflect on the baby's body, we encounter a collection of symptoms called syndromes.


Trisomy 21 (Down Syndrome)


Trisomy 21 is the most common chromosomal abnormality. It occurs in approximately 1/800 of live births. It is a chromosomal disease that occurs spontaneously during pregnancy, not usually inherited, and is characterized by the presence of 3 of the 21st chromosomes in the baby. The incidence of the disease increases with increasing maternal age.


Trisomy 18 (Edwards Syndrome)


It is found in approximately 1/5000 of live births. The risk for this disease also increases with advancing maternal age. These babies have very serious congenital structural defects. They are usually lost during pregnancy or in the first weeks of life.


Trisomy 13 (Patau Syndrome)


It is a chromosomal anomaly found in approximately 1/10000 of live births. The incidence of trisomy 13 increases with increasing maternal age. In newborn children, skull and face region also; heart, kidney, stomach anomalies and/or other physical anomalies are encountered.


How can such diseases be detected during pregnancy?

There are both invasive and non-invasive screening test possibilities during pregnancy. Ultrasound examinations performed between the 11th and 14th weeks of pregnancy are among the non-invasive methods. In this way, the nape thickness of the baby can be measured. Double and triple screening tests with maternal blood are other non-invasive techniques. However, although these techniques detect the risk to a certain extent, they do not provide a definitive diagnosis.


What is the NIFTY Blood Test and How is it Used?

With the possibilities of new generation technologies, it enables Trisomy detection without intervention. The mixing of the baby's blood with the mother's blood during pregnancy is the basis for performing this test.


Techniques such as amniocentesis, chorionic villus biopsy and cordocentesis are applied in invasive aspects that require intervention in the body of the expectant mother. Such methods are intended to collect sadness from the baby in the mother's womb. Although these interventional tests are considered to be the most reliable in the world, they carry a risk of miscarriage between 0.2% and 1% after the intervention. After a certain period of pregnancy, DNA fragments belonging to the baby can be separated with the blood taken from the mother's arm. In this way, it can be concluded that the baby has Trisomy 21-18 or 13.


Best Time to Take the Test?

Although it is technically possible to do the NIFTY Test from the 8th week, the best time is to do it after the 10th week of pregnancy. As a result of ultrasound and blood analysis, if your doctor has determined that your baby has a suspicion of Trisomy or if you have concerns because you are in the risk group, you can have this test done.




How is the NIFTY Test Done?

After the information and genetic counseling you have obtained from your doctor, you can sign the "NIFTY Test Approval Form" that you are asked to fill and perform the blood donation process. The blood to be taken from you is sent to BGI laboratories through special tubes. The analysis takes approximately 10 to 14 days. The results of the analysis are explained to you through your doctors.




Is NIFTY Test Covered by Health Insurance?

No. Unfortunately, it must be borne by the patient.


What Does It Mean If The Result Is Negative or Positive?

A negative test result shows that the baby does not have Trisomy in about 99.9%, while a positive test result shows that your baby has a Trisomy in about 99.9%.

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