Non-invasive Prenatal Testing

What Abnormalities Can Be Detected?

Non-invasive Prenatal Testing

What Abnormalities Can Be Detected?

Non-invasive prenatal testing (NIPT) is a screening test to determine the common chromosomal abnormalities of the fetus, which can lead to various complications during pregnancy, such as malformations, delayed psychomotor development, and social maladjustment of the child.

How Is NIPT Carried Out?

non-invasive prenatal testing
non-invasive prenatal testing

What Anomalies Are Diagnosed?

Each chromosome has a pair. Healthy people have 23 pairs, one pair of which is sex. Men have sex chromosomes XY, women have XX. Non-invasive prenatal testing identifies a missing or an extra chromosome, i.e., “aneuploidy”, which leads to congenital malformations, as well as disorders of psychomotor development of varying severity. The NIPT provides an opportunity to diagnose abnormalities of all chromosomes without exception.

Why Aneuploidies Are Studied?

Non-invasive prenatal testing provides the most accurate information about possible chromosomal abnormalities. It is not limited to risk assessment and can not provoke complications associated with invasive methods. In addition, the NIPT makes it possible to definitely diagnose abnormalities of all chromosomes; determines the genetic sex of the child; has the lowest incidence among similar tests; guarantees a short time to get a result.

non-invasive prenatal testing

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non-invasive prenatal testing

What Do My NIPT Results Mean?

Non-invasive prenatal testing results make it possible to assess the possible presence of abnormalities of chromosomes 21, 18, 16, 13, 9, sex (X and Y), as well as microdeletions. In case of a positive result, a genetic consultant will discuss with you the significance of the data obtained and determine the optimal strategy for further pregnancy management. The decision to terminate the pregnancy can not be based solely on the NIPT results.

Can I Trust the NIPT Result?

No test can give an absolute guarantee that your child will not have any genetic health problems. The effectiveness and accuracy of the NIPT has been confirmed by several broad clinical studies worldwide. The results obtained have been independently reviewed and verified. For chromosome 21, the accuracy of determining aneuploidies is 99.49%.For other chromosomes – not less than 97.23%. For microdeletions – 91.6%.

non-invasive prenatal testing

Do I Need the NIPT?

Non-invasive prenatal testing (NIPT) is a new way to easily, quickly and accurately provide the Intended Parents with important information about the health of their unborn child even in the first trimester of pregnancy. Moreover, it is absolutely safe for both the mother and the child. A screening test is recommended in case of an increased risk of fetal chromosomal abnormalities as an additional research tool for the following indications:

  • A pregnant woman is 35 years old and older for singleton pregnancies or 32 years and older for twin pregnancies,
  • The presence in the family of a child (fetus) with a chromosomal disease or multiple defects,
  • Increased (≥ 1/100) or intermediate (1/100-1/1,000) individual risk of fetal chromosomal abnormalities based on the results of combined screening of the first and/or second trimester without ultrasound signs of fetal malformations,
  • A pregnant woman with a low individual risk (< 1/1,000) has concerns about possible fetal chromosomal abnormalities,
  • Detection of delay or deviation of fetal development during ultrasound examination,
  • Increased risk of chromosomal abnormalities in family history (child/fetus with chromosomal disease or multiple developmental defects).