Placenta Safe™ Full Risk

Placenta Safe™ Full Risk – 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 changes in the number of copies of genetic material fragments within certain chromosomes, i.e., large deletions and duplications (CNVs, copy number variants) greater 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 screen 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, conducted for both partners, determines if the expecting couple are carriers of 31 autosomal recessive genetic diseases and assesses the risk of passing them on to 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). The probability of the fetus having the tested chromosomal and genetic anomalies is determined.

In the case of dichorionic twins, microdeletions and sex chromosome aneuploidies are not determined.
For the recessive diseases 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 pregnancies - from 10 weeks of pregnancy.

Sample: blood.

Execution time after submission to the laboratory: 1st report: 5-8 business days, 2nd report: 10-20 business days, 3rd report: 15-25 business days.