NIPT Tests for All Chromosomal Anomalies

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The expectant woman, who was 36 years old, was around 12 weeks along when she arrived for the NT scan. This was her first pregnancy. Her NT scan came out clear. She underwent a dual marker test, and her combined Down syndrome screening risk was 1:1020. She was concerned about the possibility of having Down syndrome and was aware that this risk rises with age. She sought counseling, but nothing could calm her worry and anxiety about that private blood test in the UK. Her main concern was whether the infant was normal. She was quite curious about the non-invasive prenatal screening test. So, this article will help her to clear all her doubts, including yours.

Screening for Down Syndrome | Penn Medicine

What do chromosomes and aberrant chromosomal conditions mean?

The structure and operation of our bodies are determined by the genetic material present in each cell through a non-invasive screening test in the UK. 46 chromosomes make up the organization of this genetic material. Of the 46, 23 are from the mother's egg and 23 are from the father's sperm.

Sometimes there might be extra chromosomes for a variety of reasons. The 21st, 18th, or 13th chromosomes are most frequently the extra chromosomes. Trisomy is the term for the addition of an additional chromosome. As a result, the newborn has 47 chromosomes rather than 46. The result is aberrant bodily structure and function.

Can a NIPT be used in place of a combination screening?

No is the response. The 21st, 18th, and 13th chromosomes are the only common chromosomes that the NIPT tests for. While some structural abnormalities are caused by genetic abnormalities that are undetectable by NIPT, others are caused by chromosomal abnormalities. Consequently, a scan at 11–13 weeks is crucial because it can identify structural problems in the developing infant. The scan offers a chance to determine the likelihood that elevated blood pressure may manifest in the remaining weeks of pregnancy. So, who needs to have the NIPT test in the UK?

· When the scan is normal with an intermediate risk for chromosomal abnormalities and if one is not adequately comforted about the danger, one can get the NIPT test done in addition to the scan. With combination screening, the detection rate for Down's syndrome is around 90–92%, and with NIPT, it is 99%.

· When there are no anatomical defects in the fetus but a significant chance for Down syndrome.

Can NIPT be used to confirm a structural anomaly found on a scan that is presumed to be caused by a chromosomal defect?

Karyotyping of the chromosomes, which examines all 46 chromosomes instead of just the three common ones, is advised when a structural aberration is found. Additionally, a chromosomal microarray test might be used to find minute chromosomal alterations. Therefore, further therapeutically important genetic information about these babies might be added by doing intricate genetic testing or a non-invasive prenatal screening test such as a chromosomal microarray following amniocentesis.

I hope you enjoyed this article. If you have any queries related to this, do contact the experts at Concepto Diagnostics, who provide the best healthcare solutions in the UK.

Also Read: 10 Essential Blood Tests Everyone Should Get Regularly