NIPTIFY Plus (trisomy 21, 18 and 13 + X, Y aneuploidies + 8 microdeletions + fetal sex)

The test includes: trisomy of chromosomes 21, 18, and 13 and accurate determination of fetal sex, analysis of changes in the number of sex chromosomes, and examination for 21 microdeletion syndromes (DiGeorge syndrome (22q11.2), Angelman/Prader-Willi syndromes, 15q11-q13 duplication syndrome, Williams-Beuren syndrome, 1p36 deletion syndrome, Cri-du-chat syndrome, Wolf-Hirschhorn syndrome, Jacobsen syndrome, Langer-Giedion syndrome, Duchenne muscular dystrophy, 7q11.23 duplication syndrome, 17q12 deletion syndrome, Smith-Magenis syndrome, Koolen-De Vries syndrome, Phelan-McDermid syndrome, 15q24 deletion syndrome, Neurofibromatosis (type 1), 3q29 microdeletion syndrome, 2q31.2 deletion syndrome, Miller-Dieker syndrome, Pallister-Killian syndrome.). The test is not applicable in case of multiple pregnancies.

NIPTIFY is performed using the modern DNA sequencing technology Focus Plus. Before sequencing, the fetal DNA fraction is amplified, so during the test, 3.6 times more fetal genetic material is analyzed compared to conventional NIPT tests. This significantly increases the sensitivity and accuracy of the test, so the number of repeat tests is close to zero, and the test is suitable for patients with overweight (in case of overweight, the amount of fetal DNA in the blood of the pregnant woman is lower).

Recommendation from when to perform the test: singleton - from the 10th week of pregnancy.

Sample: blood.

Completion time after arrival in the laboratory: 5 - 10 working days.