The NIFTY® mono

The NIFTY® mono

Introduction

A non-invasive prenatal screening test for fetal single-gene conditions

SIMPLE Only one tube of blood from the mother is required

SAFE: High sensitivity and specificity, both greater than 99%

RELIABLE: No risk to the fetus or the mother

FAST: Turnaround time of 10-12 working days

Introduction

NIFTYmono screens for various clinically significant and life-altering genetic conditions in a fetus that are undetectable by means of current NIPT technology, allowing for a more complete picture of the associated risk when a pregnancy is being adversely affected by a genetic condition.

  • SUITABLE FOR:

    pregnant women from week 10 of pregnancy

  • TA TIME:

    10-12 working days

  • SAMPLE:

    Peripheral blood sample

  • TECHNOLOGY:

    UMI-adopted targeted sequencing

Why Choose the NIFTY® mono?

NIFTYmono identifies fetal conditions that may not otherwise be detected by traditional prenatal screening

  • Ultrasound findings are not fully reliable
  • Family history is typically not a good indicator of probability, as these conditions are typically caused by new, or “de novo,” genetic changes (mutations)
  • The cumulative rate of occurrence of the conditions detected by NIFTYsingle-gene screening is 1/1,500
  • Conditions screened for include those which are associated with advanced paternal age (men who are >40 years of age) [1], and are unrelated to the age of the mother

 

NIFTY mono is a screening test. Pregnancy decisions should not be based solely on the results of NIFTY mono. The purpose of NIFTY mono is to indicate if the baby is at increased risk for a genetic disorder allowing for follow-up invasive prenatal studies or newborn studies.
Performing this screening allows for an assessment for known pathogenic and likely pathogenic variants in select genes associated with select disorders. NIFTY mono should be offered in conjunction with genetic counseling, including a review of family history, to help determine the most appropriate prenatal studies for any pregnant woman.
 

Conditions Screened

This test screens for 27 severe dominant single-gene disorders that result from de novo mutations in 18 genes.

Workflow

Ordering The NIFTY® Test is easy.

  • STEP 1

    Physician orders test

  • STEP 2

    Blood sample collected

  • STEP 3

    Sample shipped to BGI and analyzed

  • STEP 4

    Results sent to physician

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