Non‐Invasive Prenatal Testing (NIPT) for Fetal Sex Determination. Health Technology Assessment [Internet].

X-linked recessive diseases are severe hereditary diseases that are manifested solely in males. If the mother is a carrier of an X-linked recessive disease, she can either have a healthy girl, a healthy girl who is a carrier like the mother, a healthy boy, or a boy that becomes ill with the X-linked disease. Current practice in Norway is that all pregnant women at increased risk of having a child with an X-linked recessive disease, are eligible for an invasive test (chorionic villus sampling or amniocentesis), without any determination of the fetal sex beforehand. Annually, 40-60 invasive tests are performed in this group of pregnant women in Norway.

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