Reproductive Genetics
Preimplantation Genetic Testing for Aneuploidy (PGT-A)
Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)
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During the last decade, developments in the science of genetics and enormous advances in genetic technologies have altered our capability to understand diseases, make diagnoses, and provide effective treatments.
All pregnant women beginning at 10 weeks of pregnancy
Peripheral blood, Plasma
96 Genetic Conditions
Low coverage WGS
Transforming the world of prenatal testing, the advent of new DNA-based non-invasive prenatal testing (NIPT) has introduced a highly accurate screening strategy for fetal aneuploidy.
BGI’s NIFTY® test (Non-Invasive Fetal Trisomy Test) was the first NIPT to enter clinical testing in 2010 and has been validated by a study on nearly 147,000 pregnancies. Up to now, more than 11,520,000 NIFTY® tests have been carried out worldwide.
Conditions Screened
NIFTY® offers screening for some of the most common trisomies present at birth, including trisomy 21 (Down’s Syndrome), trisomy 18 (Edward’s Syndrome) and trisomy 13 (Patau Syndrome), as well as testing options for sex chromosomal aneuploidies, other chromosomal aneuploidies, certain chromosomal deletions or duplications, and gender.
NIFTY® provides a significantly stronger risk indication than traditional screening procedures and serves as one of the most comprehensive NIPTs on the market.
Non-invasive with no risk of miscarriage
Proven >99% sensitivity for T21, 18 & 13, based on a study of nearly 147,000 pregnancies
Over 10,420,000 NIFTY® tests carried out to date by clinicians in more than 80 countries
Test from a small >5ml maternal blood sample as early as week 10 of pregnancy
Screening options for 96 different genetic conditions
Maternal, fetal and/or placental mosaicism (mixtures of chromosomally normal and abnormal cells in the pregnancy)
Balanced or unbalanced translocation and chromosomal inversion
Patients who have received a blood transfusion within one year before the testing date
Patients who have had transplant surgery
Patients who have had stem cell therapy
Vanishing twin syndrome (with developmental arrest identified as having occurred after week 8 of pregnancy and/or within 8 weeks of NIFTY® testing)
Turnaround times for specific tests vary as per the table below. TATs are calculated from the time the sample is received and accepted at the laboratory.
Product Name | Product Code | TAT |
---|---|---|
NIFTY® Singleton (Chromosomal Aneuploidies of 21, 18, 13, X, Y, Gender) | SDX0001 | 5-7 days |
NIFTY® Twin (Chromosomal Aneuploidies of 21, 18, 13, Gender) | SDX0002 | 5-7 days |
NIFTY® Pro (Chromosomal Aneuploidies of 21, 18, 13, X, Y, 9, 16, 22, 84 Microdeletions/duplications, Gender) | SDX0003 | 5-7 days |
NIFTY® Gender | SDX0004 | 5-7 days |
Genalive Genetic Counselors are available to Healthcare providers to help navigate which test is best for their patient.