What can be investigated with NIPT?

NIPT - what can be investigated?

1) Abnormalities in chromosome number: ANEUPLOIDIES

1. Trisomy: Presence of three copies of a chromosome
2. Monosomy: Presence of only one copy of a chromosome

The most common ones:

1. Trisomy of chromosome 21 (Down Syndrome): 1 in every 700 births
2. Trisomy of chromosome 18 (Edwards Syndrome): 1 in every 3000 births
3. Trisomy of chromosome 13 (Patau Syndrome): 1 in every 6000 births

The incidence increases with maternal age.

2) Chromosome Structural Abnormalities

1. Deletion: Loss of a part of a chromosome
2. Duplication: Doubling of a part of a chromosome

If these rearrangements are very small, they are called microdeletions and microduplications.

*22q11.2 Microdeletion is the most common microdeletion and is associated with DiGeorge Syndrome. Its incidence is 1 in every 2,000-4,000 people and it is not related to maternal age.

3) Genetic Diseases

1. De novo (newly arising) mutations: DNA changes occurring for the first time in the fetus
2. Inherited mutations: DNA changes passed down from the parents

In particular, whether an individual is a healthy carrier should be investigated.
(Healthy carrier: Carries the disease but shows no symptoms.)

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