New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

Natera, Inc. (NASDAQ: NTRA), (NTRA), a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, applauds the new guidelines just released by the American College of Medical Genetics and Genomics (ACMG), supporting the use of non-invasive prenatal tests (NIPT/NIPS) as an optimal, initial option to screen for specific genetic conditions, such as Trisomy 21 (Down syndrome) during pregnancy.

ACMG is the most recent medical society to advocate for broader adoption of NIPT, including recommendations that encourage NIPT as the optimal initial screening test for all pregnant women, regardless of age or other risk factors. These latest guidelines reflect the growing consensus among genetic experts that the clinical benefits of NIPT are superior to the existing conventional screening options, including Maternal Serum Screening (MSS).

ACMG recommends "informing all pregnant women that NIPS is the most sensitive screening option for traditionally screened aneuploidies (i.e., Patau, Edwards, and Down syndromes)."

"We are pleased that ACMG recognizes that every woman should be offered NIPT/NIPS, like Panorama®, despite their risk status, providing families with critical insight into the genetic health of an unborn child. This insight allows families to make informed decisions about their baby's future, decisions which may include identifying hospitals equipped to deliver a baby that may require special care, or finding a specialist who can provide appropriate medical care to improve long-term outcomes for the child," said Kimberly Martin, MD, FRCSC, FCCMG, FACOG, FASMG, Senior Global Medical Director, Women's Health at Natera. "Since all high risk screening results should be confirmed with diagnostic testing, the higher sensitivity and lower false positive rates with NIPT provide women and their doctors with more accurate information and result in far fewer women proceeding to invasive testing compared to MSS. We applaud this organization for acknowledging the considerable depth of clinical data supporting NIPT as a first line screen for any woman who wants this information, and educating their members about the clinical benefits of this important prenatal screening test."

These latest guidelines align with other recently released medical guidelines supporting the use of NIPT as an optimal, initial screening option for all singleton pregnancies, including those issued by the International Society for Prenatal Diagnosis (ISPD) and the American Society of Human Genetics and The European Society of Human Genetics (ASHG/ESHG).

"I'm delighted that the recent ACMG guidelines now encourage all pregnant women to speak to their doctors about potentially using NIPTs to screen for chromosomal abnormalities in their developing babies," said Joe Leigh Simpson, professor of Obstetrics and Gynecology at Florida International University.

Long involved in prenatal genetic diagnosis, he also stated, "It is rewarding to see yet another highly-regarded, scientific organization update their guidelines so the benefits of NIPT are not just limited to those who are considered high-risk."

The recent ACMG guidelines are supported by peer-reviewed data; since 2012 more than 68,600 patients (<35 years of age) at delivery have been evaluated in eight studies, providing further clarity around the clinical benefits of prenatal screening. Insurance plans are also recognizing the benefits and an increasing number of them have updated their medical policies to cover NIPT as "medically necessary" for all women. Currently, plans representing more than 75 million insured lives cover NIPT for all singleton pregnancies.

"As a practicing physician, I'm encouraged by the ACMG's updated guidelines recognizing that NIPT could benefit a patient at any risk status, so that all patients have the option to learn critical information about the genetic health of their developing child," said Damla Karsan, MD, at The Women's Specialists of Houston and clinical faculty member specializing in Obstetrics and Gynecology at Texas Medical Center. "I've seen instances where patients have been considered low-risk, yet delivered babies with serious genetic diseases, so knowing they'll now have the opportunity to use this non-invasive screening tool, that could arm them with knowledge about the genetic health status of their baby, is a positive step for their pregnancy journey."

In addition to the recommendation surrounding average risk women, ACMG has also commented on several other areas of NIPT including select CNVs (microdeletions), rare trisomies, and genome-wide CNVs.


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