NACE Non-invasive prenatal test

Overview

What is NACE?
Benefits
Indications

What is NACE?

NACE is a non-invasive prenatal screening test for the most frequent chromosomal abnormalities. The test is non-invasive, meaning that there is no risk to the foetus.
A simple blood draw from the mother allows free fetal DNA circulating in the maternal bloodstream to be detected via next-generation sequencing (NGS) technology and our proprietary bioinformatic analysis tool.

NACE: Detects abnormalities in chromosomes 21, 18, 13 and the most common anomalies in the sex chromosomes (X and Y).
NACE 24: Analyzes the full set of chromosomes at the resolution of a standard karyotype. It identifies deletions and duplications that are associated with clinically relevant genetic syndromes.

Methodology

NACE can be used for:

Single pregnancies
Twin pregnancies
Can give results with fetal fraction under 4%
Natural conception
IVF

Egg donation
Women of all ages
Women of all ethnicities
Women of all body mass index
Suitable for cases of consanguinity

Why use a non-invasive prenatal test?

Prevent the need for 98% of invasive tests in patients at risk for trisomy 21 (Down syndrome)
Reduces the number of miscarriages caused by amniocentesis or chorionic villus sampling (CVS)
Can give results with foetal fraction under 4%
NACE has the highest informativity rate in the market: we obtain results for 99.9% of the analysed samples
More reliable than 1st trimester combined screening. The false positive rates of conventional tests, including biochemical screening, mean that 1 in every 20 women who test positive for Down syndrome will actually be carrying a healthy baby.
Avoid a false sense of security: Of every 20 women carrying a baby with Down syndrome, 3 will test negative by biochemical screening.
The new NACE 24 technology allows analysis of aneuploidies (mainly trisomies) as well as deletions and duplications greater than 7Mb. This allows a more detailed investigation of high-risk pregnancies, to identify potentially clinically relevant conditions such as true foetal mosaicism, uniparental disomy and chromosomal imbalances (when the parents are carriers of balanced translocations).

Who is NACE suitable for?

Several scientific studies support the use of non-invasive prenatal testing for all pregnant women.

An abnormal result in their first-trimester screen.
A previous Down´s syndrome pregnancy.
A suspicious ultrasound finding.

(Gregg, et al. Genet Med. 2016)

Test Limitations

cfDNA screening is considered a screening test and not a diagnostic test.
False non-invasive prenatal screening (NIPT) results: foetoplacental mosaicism, maternal chromosomal abnormalities, vanishing twin syndrome and/or errors associated with the procedures.
Low-molecular-weight heparin can interfere with the analysis. If the patient is taking heparin during pregnancy, the recommendation is to perform the blood draw before heparin administration.

Documentation

Authors: Milan M, Mateu E, Blesa D, Clemente-Ciscar M, Simon C

Publication: Prenat Diagn. 2018 Apr 23. doi: 10.1002/pd.5274.

PMID: 29683524

Title: Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Authors: Gregg A R, Skotko B G, Benkendorf J L, Monaghan K G, Bajaj K, Best R G, Klugman S, Watson M S

Publication: Genet Med. 2016 Oct;18(10):1056-65. doi: 10.1038/gim.2016.97. Epub 2016 Jul 28.

PMID: 27467454

Title: DNA sequencing versus standard prenatal aneuploidy screening

Authors: Bianchi D W, Parker R L, Wentworth J, Madankumar R, Saffer C, Das A F, Craig J A, Chudova D I, Devers P L, Jones K W, Oliver K, Rava R P, Sehnert A J, CARE Study Group

Publication: N Engl J Med. 2014 Feb 27;370(9):799-808. doi: 10.1056/NEJMoa1311037.

PMID: 24571752

Title: Screening for fetal aneuploidies at 11 to 13 weeks

Author: Nicolaides K H

Publication: Prenat Diagn. 2011 Jan;31(1):7-15. doi: 10.1002/pd.2637.

PMID: 21210475

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