CentoNIPT^® – Non-Invasive Prenatal Testing at CENTOGENE

• Fetal chromosomal abnormalities are causing physical disability and/or mental retardation
• 70% of syndromic congenital abnormalities are contributed by Trisomy T21, T18 or T13 and 10% by Turner syndrome (Monosomy X)
• The risk of trisomy increases significantly with maternal age

Trisomies

CentoNIPT is a screening test, designed to analyze chromosome aneuploidies of the fetus after 10 weeks of gestation. Reported are overrepresentations of chromosomes 13, 18 and 21, and optionally sex chromosome aneuploidies XO, XXX, XXY and XYY. Gender reporting can also be proactively selected.

Chromosome aneuploidies for a twin gestation can in general be detected by this test. However, the test cannot be attributed to individual twin fetuses. In twin pregnancies, sex chromosome aneuploidy reporting is not available and the test can only determine the presence of a Y chromosome; hence gender cannot be assigned to a specific twin.

Although CentoNIPT is a high accuracy screening test for the chromosome aneuploidies mentioned above, it cannot completely exclude the risk for these or aneuploidies in other chromosomes or other birth defects.

CENTOGENE Reports NIPT Results As Follows:

High risk for aneuploidy – if CentoNIPT identifies an aneuploidy (chromosome 13,18 or 21 or gonosomal chromosomes), CENTOGENE reports high risk for aneuploidy and provides data on fetal DNA fraction in the sample of mother´s peripheral blood (in percentages) and the data on fetal gender if requested. We urgently recommend to the referring physician or the genetic counselor to determine wether invasive testing and subsequent genetic analyses are needed.

Low risk for aneuploidy – if CentoNIPT did not indicate a trisomy of chromosome 13, 18, or 21 or gonosomal abnormalities, CENTOGENE reports low risk for aneuploidy together with the data on fetal DNA fraction and the data on fetal gender if requested. A negative result cannot entirely exclude the possibility of fetoplacental mosaicism. Thus, CENTOGENE is giving negative results of NIPT together with the suggestion: if the fetus shows abnormalities on ultrasound investigation, or if a family history of fetal abnormalities or other genetic disorders exists, we urgently recommend to the referring physician or the genetic counselor to consider whether invasive testing and subsequent genetic analyses are needed.

In the very unlikely case of unclear results of the non-invasive prenatal testing due to the limitation of the system, we recommend further follow-up of the fetal growth using ultrasound as well as 2nd trimester screens. In case of any abnormalities observed on the ultrasound examination or if there is a positive family history of fetal abnormalities or other genetic disorders, we urgently recommend to the referring physician or the genetic counselor to consider whether invasive testing and subsequent analyses are needed.