Non-Invasive Prenatal Diagnosis (NIPT)

Non-Invasive Prenatal Diagnosis (NIPT) is a method of scanning which provides up to 98% accuracy when examining the baby for chromosomal and genetic disorders by drawing 18-20 cc of blood from the mother.

According to recent research in the literature, it was detected that following the first few weeks of pregnancy, some cells belonging to the foetus enter the blood circulation of the mother and remain there for the entire duration of the pregnancy, thus resulting in genetic material of the baby in the mother (DNA).

It is possible to determine the structure of the baby relating to some chromosomes (starting from the 10th week) by conducting Non-Invasive Prenatal Diagnosis.

Most Common Anomalies in Non-Invasive Prenatal Diagnosis (NIPT):
Trisomy 21 – Down Syndrome
Trisomy 18 – Edwards Syndrome
Trisomy 13 – Patau Syndrome

Gender Chromosome Related Anomalies:
Klinefelter Syndrome (XXY)
Turner Syndrome and some micro-deletion related to some diseases (Cri-du-chat etc.) can be detected at early stages without any invasive risks.

How is Non-Invasive Prenatal Diagnosis performed?
The only thing required for the test is 18-20 cc blood taken from the mother, which is collected in specially made tubes. At the end of the 2-3 week testing period, any genetic diseases in the current pregnancy can be reported with 98% accuracy. It is very important to perform the test in the first few weeks. This is because it is best to leave time for amniocentesis in case the physician decides it is necessary after NIPT.

Within the scope of NIPT, tests with similar names (NIFTY, Harmony, Panorama, Veracity etc.) have become increasingly common. Some of these tests claim that in addition to identifying high risk chromosomes, they can also detect some of the micro-deletions that cause severe illnesses after pregnancy and birth.
Detailed information regarding the accuracy/certainty of previously mentioned tests and their results can be obtained from your monitoring specialist or testing expert.

An NIPT test showing low risk does not necessarily mean that the baby will be completely genetically healthy. This is because this test is only effective for testing particular chromosomes or DNA regions. However, it is vital to be able to evaluate severe chromosomal anomalies (like down syndrome), which begin at the very early stages of pregnancy.

NIPT tests are yet to be considered as diagnostic tests. This is why in cases where the results indicate high risk, the physician may request an amniocentesis to clarify the results. Due to NIPT being used in clinics, the number of amniocenteses performed in low risk pregnancies and the complications related to these procedures have decreased drastically in recent years. The NIPT test is not just for one baby pregnancies, but can also be used for twins.