New ACMG guidelines recommend NIPT for all pregnancies

September 15, 2016

On July 28, 2016, ACMG issued an updated position statement on noninvasive prenatal screening (NIPS, also called noninvasive prenatal testing, or NIPT). In part, it states:

New evidence strongly suggests that NIPS can replace conventional screening for Patau, Edwards, and Down syndromes across the maternal age spectrum, for a continuum of gestational age beginning at 9–10 weeks, and for patients who are not significantly obese.1

This means all patients—regardless of risk-level—can benefit from NIPT, such as the MaterniT® 21 PLUS laboratory-developed test, which can be used as early as nine weeks gestation.

It also means it’s now more important to make distinctions among NIPTs.

The ACMG statement was careful around weight, stating that in cases of significant obesity, a “no call” or non-reportable result due to low fetal fraction can be common. But not all NIPTs have equal no-call rates. For women over 200 lbs., the MaterniT 21 PLUS test showed a no-call rate of < 5%,2 whereas Panorama had a no-call rate of 27.5%.3

ACMG also states that a high PPV (positive predictive value), an indicator of clinical utility, can help patients more easily weigh the ramifications of diagnostic testing following NIPT. And in a high-risk cohort, MaterniT 21 PLUS showed a PPV greater than 97.9% for trisomy 21 (Down syndrome).4

Learn more about MaterniT 21 PLUS or NIPT in general by contacting Sequenom Laboratories at 877.821.7266, and view the ACMG statement at

1. Gregg A., et al. “Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics,” Genetics in Medicine (2016), Published online 28 July 2016,

2. J Wardrop et al. Maternal weight – impact on noninvasive prenatal testing (NIPT). Poster session presented at: American College of Medical Genetics Annual Meeting; 2016 Mar 8-12; Tampa, FL.

3. Dar P, et al. Am J Obstet Gynecol. 2014 Nov;211(5):527.e1-527.e17.

4. Porreco RP, et al. Am J Obstet Gynecol. 2014 Oct;211(4):365.e1-128.

MaterniT 21 PLUS is a laboratory-developed test developed, validated and performed exclusively by 

Sequenom Laboratories. Sequenom®, Sequenom Laboratories™, and MaterniT® are trademarks of Sequenom, Inc. All other trademarks are the property of their respective owners. 2016 Sequenom Laboratories. All rights reserved.