Featured Research

from universities, journals, and other organizations

ACMG releases statement on noninvasive prenatal screening

Date:
April 8, 2013
Source:
American College of Medical Genetics
Summary:
The new ACMG statement on "Noninvasive Prenatal Screening" addresses: The current limitations of NIPS; the advantages of NIPS compared with current screening approaches; pretest and posttest genetic counseling; the reporting of results by laboratories performing NIPS; and the oversight of analytical and bioinformatic components by testing of the laboratories performing NIPS.

The American College of Medical Genetics and Genomics (ACMG) has just released an important new Policy Statement on "Noninvasive Prenatal Screening for Fetal Aneuploidy."

As background, in recent decades there have been many changes and improvements in prenatal genetic screening and diagnosis. The risk, however, of testing with specimens obtained by invasive procedures such as amniocentesis and chorionic villus sampling (CVS) has led to the search for new methods using mother's blood specimens obtained noninvasively. The most recent advances in genomics and genomic technologies have resulted in such noninvasive prenatal screenings (NIPS). The acronym NIPS is used to emphasize the screening nature (false positives and false negatives do occur) of tests currently on the market.

The new ACMG Statement on Noninvasive Prenatal Screening addresses:

  • The current limitations of NIPS
  • The advantages of NIPS compared with current screening approaches
  • Pretest and posttest genetic counseling
  • The reporting of results by laboratories performing NIPS
  • Oversight of analytical and bioinformatic components by testing of the laboratories performing NIPS

The Statement says that while studies are promising and demonstrate high sensitivity with low false-positive rates, there are limitations to NIPS, "NIPS for fetal aneuploidy has arrived; however, as with most new technologies, there is room for refinement." The report strongly states that positive results should be followed-up with an invasive diagnostic test before any decision is made regarding pregnancy termination.

Lead author of the ACMG Statement Anthony R. Gregg, MD, FACOG, FACMG and high- risk pregnancy physician said, "Obstetric care providers must become familiar with the advantages and disadvantages of the use of this approach. Clinicians should provide patients with both pretest and posttest counseling with the goal of avoiding patient harm or confusion -- I can't stress this enough."

Gregg added, "Most of the companies that are developing these tests have referred to it as NIPDiagnosis or NIPTest. In our view, it is NOT a diagnostic test such as chorionic villus sampling [CVS] or amniocentesis; hence, we coined the term Noninvasive Prenatal SCREENING (NIPS)."

NIPS was initially validated for Down syndrome screening and has been applied to other trisomies including 13 and 18 with sex chromosomes being added now.

ACMG Medical Director Barry Thompson, MD, FACMG, another author of the Statement added, "NIPS is now one of many approaches available to women who desire Down syndrome screening. Unlike other methods, it is minimally invasive in that it only requires a blood sample from the pregnant mother rather than the more invasive amniocentesis or CVS that have associated risks of miscarriage."

"NIPS is a very accurate screening test, " said Michael S. Watson, PhD, Executive Director of the American College of Medical Genetics and Genomics. However, it is well known that the cells originate from 'extraembryonic tissues' around the fetus so aneuploidy status may not always be identical to the genetics of the fetus. The advantages include that the detection rate is higher, the negative predictive value is greater, and the false positive rate is lower, than any other current screening approaches for Down syndrome. It must be followed up, however, by a diagnostic test since NIPS is a screening test."

"Finally, NIPS does not replace a first trimester ultrasound (12-14 weeks); rather, it complements it," Watson added.

The Statement can be found in the Publications section of the ACMG website at http://www.acmg.net and will soon be published in the peer-reviewed medical journal, Genetics in Medicine.


Story Source:

The above story is based on materials provided by American College of Medical Genetics. Note: Materials may be edited for content and length.


Cite This Page:

American College of Medical Genetics. "ACMG releases statement on noninvasive prenatal screening." ScienceDaily. ScienceDaily, 8 April 2013. <www.sciencedaily.com/releases/2013/04/130408133754.htm>.
American College of Medical Genetics. (2013, April 8). ACMG releases statement on noninvasive prenatal screening. ScienceDaily. Retrieved October 21, 2014 from www.sciencedaily.com/releases/2013/04/130408133754.htm
American College of Medical Genetics. "ACMG releases statement on noninvasive prenatal screening." ScienceDaily. www.sciencedaily.com/releases/2013/04/130408133754.htm (accessed October 21, 2014).

Share This



More Health & Medicine News

Tuesday, October 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

How Nigeria Beat Its Ebola Outbreak

How Nigeria Beat Its Ebola Outbreak

Newsy (Oct. 20, 2014) The World Health Organization has declared Nigeria free of Ebola. Health experts credit a bit of luck and the government's initial response. Video provided by Newsy
Powered by NewsLook.com
Another Study Suggests Viagra Is Good For The Heart

Another Study Suggests Viagra Is Good For The Heart

Newsy (Oct. 20, 2014) An ingredient in erectile-dysfunction medications such as Viagra could improve heart function. Perhaps not surprising, given Viagra's history. Video provided by Newsy
Powered by NewsLook.com
Ebola Worries End for Dozens on U.S. Watch Lists

Ebola Worries End for Dozens on U.S. Watch Lists

Reuters - US Online Video (Oct. 20, 2014) Forty-three people who had contact with Thomas Eric Duncan, the first person diagnosed with Ebola in the U.S., were cleared overnight of twice-daily monitoring after 21 days of showing no symptoms. Rough Cut (no reporter narration). Video provided by Reuters
Powered by NewsLook.com
CDC Calls for New Ebola Safety Guidelines

CDC Calls for New Ebola Safety Guidelines

AP (Oct. 20, 2014) Centers for Disease Control and Prevention Director Dr. Tom Frieden laid out new guidelines for health care workers when dealing with the deadly Ebola virus including new precautions when taking off personal protective equipment. (Oct. 20) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins