• About Us
    • Contact Us
    • Login
    • ObGFirst
  • COVID-19
  • Alerts
  • OB
  • 2T US Atlas
  • The Genome
  • GYN
    • GYN
    • Sexual Health
  • Primary Care
  • Your Practice
  • GrandRounds
  • My Bookshelf
  • Now@ObG
  • Media
About Us Contact Us Login ObGFirst
  • COVID-19
  • Alerts
  • OB
  • 2T US Atlas
  • The Genome
  • GYN
    • GYN
    • Sexual Health
  • Primary Care
  • Your Practice
  • GrandRounds
  • My Bookshelf
  • Now@ObG
  • Media
Grand Rounds

How Does NIPT Compare to Invasive Testing in the Setting of Ultrasound Abnormalities?

image_pdfFavoriteLoadingFavorite

BACKGROUND AND PURPOSE:

  • Current guidelines recommend invasive prenatal diagnosis using microarray analysis in the setting of fetal ultrasound anomalies
  • Many women will decline invasive testing even if offered and will opt for NIPT, even though only a screening tool limited to common aneuploidies
  • Beulen et al. (Ultrasound Obstet Gynecol., 2017) evaluated NIPT as an alternative to invasive diagnostic prenatal testing in pregnancies with abnormal ultrasound findings

METHODS:

  • Retrospective analysis of 251 pregnancies (2014-2015)
  • Included patients who received NIPT following abnormal ultrasound
  • Women were counseled and offered prenatal invasive diagnosis (rapid testing for common aneuploidies and microarray)
  • Sex chromosomes were not analyzed, according to the current protocol in Dutch laboratories

RESULTS:

  • NIPT was performed at a median gestational age of 20 weeks
  • Ultrasound findings
    • Multiple congenital anomalies (n= 13)
    • Isolated structural anomalies (n=57)
    • Increased nuchal translucency ≥ 3.5 mm (n = 58)
    • Soft markers (n = 73)
    • Growth restriction (n = 40)
    • Other anomalies (n = 10)
  • NIPT results: Normal in 89% of pregnancies; inclusive in 0.4%; abnormal in 10.4%
  • Analysis of discordant results (Normal NIPT results/abnormal outcome) identified the following genetic anomalies missed by NIPT in 3.1% of pregnancies
    • Trisomy 13 and monosomy X
    • 2 Subchromosomal aberrations detectable on microarray
    • 3 Monogenic aberrations (cannot be detected with microarray)
  • Genetic abnormalities would have been detected in 12.7% pregnancies based on invasive testing

CONCLUSION:

  • NIPT should not be recommended to determine genetic abnormalities when ultrasound anomalies are found
    • 2/5 cases of trisomy 13 were not detected with NIPT
  • NIPT sensitivity and therefore negative predictive value, are inferior to conventional karyotyping and microarray analysis
  • Massive Parallel Sequencing NIPT technique used in this study could detect subchromosomal changes but resolution is limited compared to microarray
  • Some women despite counseling will still choose NIPT over invasive prenatal diagnosis

Learn More – Primary Sources:

Clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies.

image_pdfFavoriteLoadingFavorite

< Previous
All Grand Rounds Posts
Next >

Related ObG Topics:

How Accurate is NIPT as a Screening Test for Chromosomal Aneuploidies?
SMFM Guidance – The Role of Prenatal Ultrasound and NIPT 
What Is the Best Follow-Up Diagnostic Test After a High-Risk NIPT Result?

Sections

  • COVID-19
  • Alerts
  • OB
  • GYN
    • GYN
    • Sexual Health
  • 2T US Atlas
  • The Genome
  • Primary Care
  • Your Practice
  • Grand Rounds
  • My Bookshelf
  • Now@ObG
  • Media

Are you an
ObG Insider?

Get specially curated clinical summaries delivered to your inbox every week for free

  • Site Map/
  • © ObG Project/
  • Terms and Conditions/
  • Privacy/
  • Contact Us/
© ObG Project
SSL Certificate


  • Already an ObGFirst Member?
    Welcome back

    Log In

    Want to sign up?
    Get guideline notifications
    CME Included

    Sign Up

Get Guideline Alerts Direct to Your Phone
Try ObGFirst Free!

Sign In

Lost your password?

Sign Up for ObGFirst and Stay Ahead

  • - Professional guideline notifications
  • - Daily summary of a clinically relevant
    research paper
  • - Includes 1 hour of CME every month

ObGFirst Free Trial

Already a Member of ObGFirst®?

Please log in to ObGFirst to access the 2T US Atlas

Password Trouble?

Not an ObGFirst® Member Yet?

  • - Access 2T US Atlas
  • - Guideline notifications
  • - Daily research paper summaries
  • - And lots more!
ObGFirst Free Trial

Media - Internet

Computer System Requirements

OBG Project CME requires a modern web browser (Internet Explorer 10+, Mozilla Firefox, Apple Safari, Google Chrome, Microsoft Edge). Certain educational activities may require additional software to view multimedia, presentation, or printable versions of their content. These activities will be marked as such and will provide links to the required software. That software may be: Adobe Flash, Apple QuickTime, Adobe Acrobat, Microsoft PowerPoint, Windows Media Player, or Real Networks Real One Player.

Disclosure of Unlabeled Use

This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications.

The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.

Disclaimer

Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information
presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications and/or dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.

Jointly provided by

NOT ENOUGH CME HOURS

It appears you don't have enough CME Hours to take this Post-Test. Feel free to buy additional CME hours or upgrade your current CME subscription plan

Subscribe

JOIN OBGFIRST AND GET CME/CE CREDITS

One of the benefits of an ObGFirst subscription is the ability to earn CME/CE credits from the ObG entries you read. Tap the button to learn more about ObGFirst

Learn More
Leaving ObG Website

You are now leaving the ObG website and on your way to PRIORITY at UCSF, an independent website. Therefore, we are not responsible for the content or availability of this site