However, the report only states the result for chromosomes 13, 18 and 21, unless an additional abnormality was found that is important for your own or your baby's health. NIPT analysis always involves a genome-wide analysis. Numerical abnormalities of the sex chromosomes (such as Turner syndrome or Klinefelter syndrome).Monogenic (single gene) disorders (such as cystic fibrosis or fragile X syndrome).Small chromosome abnormalities (microdeletions or microduplications), except for the few specific microdeletion syndromes mentioned above.Mosaic trisomy 21, 18 or 13 (not all the cells have a trisomy).Please note that NIPT is currently not able to detect all cases of these rare incidental chromosome abnormalities. In either one of these cases, one of our centers’ clinical geneticists will inform you and your physician accordingly and offer you the necessary multidisciplinary care. Specific small chromosome abnormalities in the baby, like.A chromosome abnormality in the mother that is important for her own health or for that of her baby.A trisomy of a chromosome other than 13, 18 or 21.Therefore, in rare cases, NIPT can also reveal other chromosomal abnormalities, for example: Using NIPT, all chromosomes are analyzed. For other specific genetic disorders, an alternative type of genetic testing may be more appropriate.

The NIPT also determines the sex of the baby.Īre you considering NIPT for other reasons? You should first discuss this with your physician. From the 12th week of pregnancy, a blood sample from the mother is used to determine the risk of the following diseases in the baby:

Harmony test gender accuracy 2015