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

Repeat maternal serum testing in multiple marker Down's syndrome screening programmes

H Cuckle1, J Densem, N Wald

  • 1Department of Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, Medical College of St Bartholomew's Hospital, London, U.K.

Prenatal Diagnosis
|July 1, 1994
PubMed
Summary
This summary is machine-generated.

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

Change in prevalence of preterm birth in Israel following publication of national guidelines recommending routine sonographic cervical-length measurement at 19-25 weeks' gestation.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2022
Same author

Quality assessment of first-trimester screening for preterm pre-eclampsia.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2022
Same author

Re: Routine first-trimester combined screening for pre-eclampsia: pregnancy-associated plasma protein-A or placental growth factor?

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2022
Same author

Linking a European cohort of children born with congenital anomalies to vital statistics and mortality records: A EUROlinkCAT study.

PloS one·2021
Same author

Early pregnancy prediction of spontaneous preterm birth before 32 completed weeks of pregnancy using plasma RNA: transcriptome discovery and initial validation of an RNA panel of markers.

BJOG : an international journal of obstetrics and gynaecology·2021
Same author

United States' experience in nuchal translucency measurement: variation according to provider characteristics in over five million ultrasound examinations.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2021
Same journal

Genomic Landscape and Perinatal Outcomes of Fetal Polydactyly: A Retrospective Cohort Study Integrating CNV-seq and Trio-ES.

Prenatal diagnosis·2026
Same journal

Detecting Androgenetic Origin of the Genome via Single-Nucleotide Polymorphism-Based Cell-Free DNA Screening in Dichorionic Diamniotic Twin Pregnancies With Complete Hydatidiform Moles and a Coexisting Normal Fetus: A Three-Case Report.

Prenatal diagnosis·2026
Same journal

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow-Up of the Fetuses.

Prenatal diagnosis·2026
Same journal

Prenatal Spectrum of COL2A1-Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports.

Prenatal diagnosis·2026
Same journal

Association of Fetal Cerebrovascular Resistance and Neurodevelopment in Congenital Heart Disease: A Physiology-Based Analysis.

Prenatal diagnosis·2026
Same journal

Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study).

Prenatal diagnosis·2026
See all related articles

Repeat testing maternal serum markers for Down syndrome shows limited efficiency gains. While some policies reduce false positives, they also decrease detection rates, making selective repeat testing not recommended.

Area of Science:

  • Prenatal diagnostics
  • Biochemical screening
  • Maternal serum screening

Background:

  • Maternal serum screening is crucial for Down syndrome detection.
  • Repeat testing policies require evaluation for efficiency.
  • Assessing the impact of repeat testing on screening accuracy is needed.

Purpose of the Study:

  • To evaluate the effect of repeat testing on maternal serum multiple marker screening for Down syndrome.
  • To estimate detection and false-positive rates for various repeat testing strategies.
  • To determine if selective repeat testing improves overall screening efficiency.

Main Methods:

  • Utilized stored maternal serum samples from an antenatal serum bank.
  • Measured human chorionic gonadotropin (hCG) and unconjugated oestriol (uE3) levels in 142 sample pairs previously tested for alpha-fetoprotein (AFP).

Related Experiment Videos

  • Applied a multivariate Gaussian model to estimate detection and false-positive rates under different repeat testing policies.

    • Main Results:

    • Repeat testing showed variability; two-thirds of marker pairs were within 20% and most within 40%.
    • Repeat testing high-risk cases reduced false positives (5.3% to 3.8%) but also detection rates (58% to 55%).
    • Repeating high or borderline risk cases offered modest efficiency improvements, with a 1 in 500 cut-off yielding a 5.0% false-positive rate and 60% detection rate.

    Conclusions:

    • Selective repeat testing in maternal serum screening for Down syndrome does not substantially improve overall screening efficiency.
    • While repeat testing can provide unbiased risk estimates for individual women, its impact on population-level screening efficiency is limited.
    • Careful consideration of repeat testing policies is necessary to balance detection and false-positive rates in prenatal screening.