Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Early genetic sonogram for Down syndrome detection.

Ray O Bahado-Singh1, Inanc Mendilcioglu, Minu Rowther

  • 1Department of Obstetrics, Yale University School of Medicine, New Haven, Conn, USA. bahandoro@ucmail.uc.edu

American Journal of Obstetrics and Gynecology
|November 20, 2002
PubMed
Summary

Early genetic sonography (14-16 weeks) offers superior Down syndrome detection compared to later mid-trimester scans. This method provides high sensitivity and accuracy, making it a valuable tool for early prenatal screening.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Study of comparative performance of general-purpose LLM-based systems in predicting IVF outcomes.

Journal of assisted reproduction and genetics·2026
Same author

Clinical utility of the PBAC score in quantifying treatment response to hysteroscopy: a retrospective observational study.

Frontiers in surgery·2025
Same author

Prenatal opioid exposure alters pain perception and increases long-term health risks in infants with neonatal opioid withdrawal syndrome.

Frontiers in pain research (Lausanne, Switzerland)·2025
Same author

Reducing Amniocentesis Anxiety: The Role of Pre-Procedural Video Information.

Medical science monitor : international medical journal of experimental and clinical research·2025
Same author

Untargeted Metabolomic Biomarker Discovery for the Detection of Ectopic Pregnancy.

International journal of molecular sciences·2024
Same author

Comparison of polymerase chain reaction method with culture method in antenatal Group B Streptococcus screening.

Ginekologia polska·2024

Area of Science:

  • Prenatal diagnosis
  • Fetal medicine
  • Genetics

Background:

  • Down syndrome screening is crucial for prenatal care.
  • Mid-trimester genetic sonography is a common diagnostic tool.
  • Evaluating earlier sonographic markers can improve detection rates.

Purpose of the Study:

  • To assess the sensitivity of early genetic sonography (14-16 weeks) for Down syndrome detection.
  • To compare the diagnostic accuracy of early versus later mid-trimester sonography.
  • To evaluate early genetic sonography against established first-trimester screening methods.

Main Methods:

  • Sonographic markers including nuchal thickness, limb lengths, and fetal anatomy were assessed.
  • Logistic regression and gaussian algorithms were used for risk assessment.

Related Experiment Videos

  • Sensitivity, false-positive rates, and ROC curves were calculated for comparison.

    • Main Results:

    • Early genetic sonography (14-16 weeks) demonstrated 100% detection of Down syndrome with a 21.2% false-positive rate.
    • At a 4.8% false-positive rate, early sonography had an 81.8% detection rate versus 61.6% for later scans.
    • Early sonography showed significantly higher diagnostic accuracy (AUC 0.962 vs 0.871).

    Conclusions:

    • Early genetic sonography (14-16 weeks) is highly sensitive and superior to later mid-trimester ultrasonography for Down syndrome detection.
    • This early screening method achieves diagnostic accuracy comparable to first-trimester nuchal translucency screening.
    • Genetic sonography in early mid-trimester offers a powerful tool for early Down syndrome diagnosis.