Reproductive Genetics

Non-Invasive Prenatal Testing (NIPT)

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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.

Suitable for

All pregnant women beginning at 10 weeks of pregnancy

Sample

Peripheral blood, Plasma

Test options

96 Genetic Conditions

Technology

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.

Why Choose NIFTY® ?

NIFTY® provides a significantly stronger risk indication than traditional screening procedures and serves as one of the most comprehensive NIPTs on the market.

Advantages

Vector

Safe

Non-invasive with no risk of miscarriage

Group 30586

Accurate

Proven >99% sensitivity for T21, 18 & 13, based on a study of nearly 147,000 pregnancies

Vector (7)

Trusted

Over 10,420,000 NIFTY® tests carried out to date by clinicians in more than 80 countries

Group (10)

Simple

Test from a small >5ml maternal blood sample as early as week 10 of pregnancy

Group (14)

Comprehensive

Screening options for 96 different genetic conditions

Testing is not suitable for patients with the following indications

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)

TAT

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.

Genalive offers the following NIFTY® tests:

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.