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

First trimester prenatal diagnosis: chorionic villus sampling.

T M Jenkins1, R J Wapner

  • 1Department of Obstetrics and Gynecology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107-5083, USA.

Seminars in Perinatology
|November 7, 1999
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

Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2023
Same author

Analysis of brain and spinal MRI measures in a common domain to investigate directional neurodegeneration in motor neuron disease.

Journal of neurology·2022
Same author

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

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

Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.

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

EAN consensus statement for management of patients with neurological diseases during the COVID-19 pandemic.

European journal of neurology·2020
Same author

Expanding our understanding of fetal genetic diseases: the beginning of in utero precision medicine.

BJOG : an international journal of obstetrics and gynaecology·2020
Same journal

Congenital cytomegalovirus: Screening strategies and diagnostic challenges.

Seminars in perinatology·2026
Same journal

The society for neonatal nutrition and lifelong health: Building science and translating research to inform neonatal nutritional care.

Seminars in perinatology·2026
Same journal

Enteral nutrition to optimize health and neurodevelopmental outcomes in very preterm infants.

Seminars in perinatology·2026
Same journal

Standardizing outcome measures in preterm infant nutrition research: Use of anthropometry and body composition in the neonatal intensive care unit.

Seminars in perinatology·2026
Same journal

A dilemma of parental inclusion? Parent perspectives of NICU feeding practices and neonatal nutritional research.

Seminars in perinatology·2026
Same journal

Maternal diet and nutritional status during pregnancy and lactation: a review of implications on milk composition and lactation outcomes.

Seminars in perinatology·2026
See all related articles

Chorionic villus sampling (CVS) is a safe and effective first-trimester diagnostic tool for fetal genetic disorders. Performed between 10-14 weeks, CVS offers reliable results with risks comparable to amniocentesis.

Area of Science:

  • Prenatal Diagnostics
  • Medical Genetics
  • Obstetrics

Background:

  • Chorionic villus sampling (CVS) has a 14-year history of successful use for first-trimester genetic disorder diagnosis.
  • It is performed between 10 and 14 weeks of gestation.

Purpose of the Study:

  • To evaluate the safety and effectiveness of CVS for diagnosing fetal genetic disorders in the first trimester.
  • To compare the risks of CVS with second-trimester amniocentesis.
  • To assess the reliability of cytogenetic results from CVS.

Main Methods:

  • Review of data on chorionic villus sampling procedures and outcomes.
  • Analysis of diagnostic accuracy for chromosomal, biochemical, and molecular disorders.
  • Evaluation of risks, including procedure-induced limb defects and confined placental mosaicism.

Related Experiment Videos

Main Results:

  • CVS is safe and effective for diagnosing fetal genetic disorders, with risks comparable to amniocentesis.
  • Cytogenetic results are reliable and accurate.
  • Concerns regarding limb defects are minimized when CVS is performed after 70 days gestation.
  • Confined placental mosaicism occurs in ~1% of cases, providing valuable perinatal outcome information.

Conclusions:

  • Chorionic villus sampling is the optimal choice for first-trimester genetic testing due to its safety and early diagnostic advantage.
  • It is a reliable method for diagnosing a range of fetal genetic conditions.
  • CVS is suitable for multiple gestations when performed by experienced practitioners.