PRENATAL DIAGNOSIS AND FETAL THERAPY

Non-invasive prenatal diagnosis (NIPD)

This test is recommended upon suspicion of congenital genetic abnormalities of the fetus in patients for whom invasive diagnostic procedures are contraindicated.

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In cases where routine investigations in the first trimester of pregnancy (biochemical screening, foetal morphology) raise suspicions about the presence of any congenital genetic abnormalities of the foetus, a screening DNA test is recommended for patients for whom invasive diagnostic procedures are not recommended.

The test is used for prenatal diagnosis in the first trimester in respect of Down syndrome, Edwards syndrome, Patau syndrome (trisomies 21, 18 and 13) and the most common sex chromosome defects (Turner syndrome, Kleinfelter syndrome, trisomy X and trisomy XYY).

See also

Fetal anomaly scan
Fetal surgery
First trimester combined screening
Fetal echocardiography
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