Placenta Safe™ Full Risk

Placenta Safe™ Full Risk – this is a non-invasive prenatal test (NIPT) that includes three tests: Placenta Safe™ Karyo Plus, Placenta Safe™ Gene Complete, and GeneScreen Focus. The purpose of the test is to detect aneuploidies of all chromosomes and to identify certain changes in the number of copies of genetic material fragments within chromosomes, i.e., large deletions and duplications (CNVs, copy number variants) larger than 7 Mb, and 9 syndromes associated with microdeletions: DiGeorge (22q11.2 del), Cri-du-chat (5p15.2 del), Angelman/Prader-Willi (15q11.2-q13.1 del), 1p36 deletions, Wolf-Hirschhorn (4p16.3 del), Jacobsen (11q23.3-q25 del), Langer-Giedion (8q24.11-q24.13 del), Smith-Magenis (17p11.2 del), and to perform screening for 44 autosomal dominant inherited monogenic diseases (genes ASXL1, BRAF, CBL, CHD7, COL1A1, COL1A2, COL2A1, FGFR2, FGFR3, HDAC8, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NIPBL, NSD1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SETBP1, SIX3), and 5 autosomal recessive inherited diseases: cystic fibrosis (CFTR), beta thalassemia (HBB), sickle cell anemia (HBB), type 1A deafness (CX26 (GJB2)), and type 1B deafness (CX30 (GJB6)). The fetal sex is indicated. The GeneScreen Focus test performed on both partners determines whether the pregnant couple are carriers of 31 recessively inherited genetic diseases and assesses the risk of them being inherited by offspring (genes tested ACADM, AGXT, ARSA, ATP7B, BTD, CBS, CFTR, DHCR7, EMD, FMR1, GAA, GALC, GALT, GBA, GJB1, GJB2, GJB6, GLA, HADHA, HBA1, HBA2, HBB, HEXA, MEFV, MMACHC, PAH, PMM2, SERPINA1, SLC26A2, SMN1). It determines the probability that the fetus may have the tested chromosomal and genetic anomalies.

In the case of a dichorionic twin pregnancy, microdeletions and sex chromosome aneuploidies are not determined.
For the recessive disease test, a DNA sample from the fetus's father is taken from the inner cheek or venous blood.

Recommendation for when to perform the test: Single and twin pregnancy - from 10 weeks of pregnancy.

Sample: blood.

Time to completion after entering the laboratory: 1st report: 5-8 working days, 2nd report: 10-20 working days, 3rd report: 15-25 working days.