• 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

Chromosomal Microarrays and Abnormal Prenatal Ultrasound Findings

image_pdfFavoriteLoadingFavorite

BACKGROUND AND PURPOSE:

  • Current professional guidelines recommend that chromosomal microarray be offered in the setting of a fetal structural abnormality
  • Sagi-Dain et al. (Obstetrics & Gynecology, 2018) assessed the chromosomal microarray analysis results in various ultrasonographic anomalies and characterized the copy number variants (CNV) in diverse fetal phenotypes

METHODS:

  • Retrospective cohort study
  • Chromosomal microarray analyses (amniocenteses) performed for the following fetal indications
    • Structural defects
    • Fetal growth restriction
    • Polyhydramnios
  • Rate of abnormal chromosomal microarray findings was compared based on phenotypes and compared to a historical control population (normal prenatal ultrasound)

RESULTS:

  • 5,750 pregnancies
    • 272 with chromosomal anomalies
    • Routine karyotype-detectable: 2%
    • Submicroscopic (only on microarray) :2.7%
    • 107 different aberrations | 157 submicroscopic abnormal variants
  • Most commonly detected copy number variants
    • 22q11.21 deletions: 0.4% (14.6% of CNVs)
    • 22q11.21 duplication: 0.2% (7.6% of CNVs)
  • CNVs were up to 20-fold more prevalent in fetuses with ultrasound anomalies compared to low-risk pregnancies
  • Some variants were associated with specific phenotypes
    • 22q11.21 microdeletions: Cardiovascular
    • 17q12 microdeletions: Genitourinary defects
    • 16p11.2 duplications: Gastrointestinal defects
  • The 22q11.22 deletion had the highest increased odds ratio in fetuses with anomalies compared with pregnancies with normal ultrasonographic findings
    • OR: 20.4 (95% CI 6.1–67.8)

CONCLUSION:

  • The results of this study demonstrated lower rates of CNVs in anomalous fetuses compared to previous studies (4.7% vs 16%), which may be due to
    • First trimester screening and earlier aneuploidy detection
    • Use of chromosomal microarray for all structural anomalies, not just severe findings
    • Inclusion of growth restriction and polyhydramnios
  • The authors note that the 6 most common variants only made up 42.7% of the 107 different CNVs and therefore testing for predefined CNVs/syndromes may not be effective
  • The authors also state that these data bring in to question

…the advisability of using noninvasive prenatal screening aimed at specific variants in pregnancies with structural anomalies

Learn More – Primary Sources:

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies

image_pdfFavoriteLoadingFavorite

< Previous
All Grand Rounds Posts
Next >

Related ObG Topics:

Microarrays and Microdeletions: Key Concepts Summarized
The Use of Microarrays in the Prenatal and Postnatal Setting – Current Professional Guidelines
Chromosomal Microarray Analysis for Congenital Heart Disease – Clinically Relevant Findings

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

Download Your ObG App
HERE!

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