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

Skeletal anomalies.

L Dugoff1, G Thieme, J C Hobbins

  • 1Departments of Obstetrics and Gynecology, University of Colorado Health Sciences Center, Denver, Colorado, USA.

Clinics in Perinatology
|January 31, 2002
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

Does Hypoxia Prompt Fetal Brain-Sparing in the Absence of Fetal Growth Restriction?

Physiological research·2024
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 author

CROWN initiative and preterm birth prevention: researchers and editors commit to implement core outcome sets.

BJOG : an international journal of obstetrics and gynaecology·2017
Same author

Prevention of preterm birth with pessary in singletons (PoPPS): randomized controlled trial.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2017
Same author

Reply.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2017
Same author

Right and left ventricular 24-segment sphericity index is abnormal in small-for-gestational-age fetuses.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2017
Same journal

Breathing Physiology into the Art of Neonatal Respiratory Care.

Clinics in perinatology·2026
Same journal

The Science and Art of Neonatal Respiratory Care.

Clinics in perinatology·2026
Same journal

Ex Utero Artificial Womb Support: Promising Future for Extremely Preterm Infants.

Clinics in perinatology·2026
Same journal

Advances in the Use of Cell-Based Therapies for Prevention of Bronchopulmonary Dysplasia.

Clinics in perinatology·2026
Same journal

Evaluation and Management of Genetic Respiratory Disorders Presenting as Hypoxemic Respiratory Failure in the Newborn Infant.

Clinics in perinatology·2026
Same journal

Modern Surfactant Delivery Methods with a Focus on Implementation of Surfactant Administration Through Laryngeal and Supraglottic Airways.

Clinics in perinatology·2026
See all related articles

Prenatal ultrasound can identify skeletal dysplasias and limb deformities. Future molecular genetics may enable first-trimester diagnosis for these complex conditions, often requiring a multidisciplinary approach.

Area of Science:

  • Medical Imaging
  • Prenatal Diagnosis
  • Medical Genetics

Background:

  • Skeletal dysplasias and limb deformities are identifiable prenatally via ultrasound.
  • Advancements in molecular genetics promise more specific prenatal diagnoses.
  • Complex cases often necessitate a collaborative approach.

Purpose of the Study:

  • To explore the current and future diagnostic capabilities for skeletal dysplasias and limb deformities.
  • To highlight the role of advanced imaging and genetic analysis in prenatal diagnosis.
  • To emphasize the importance of a multidisciplinary approach in managing these conditions.

Main Methods:

  • Prenatal ultrasound for initial identification.
  • Discussion of potential future molecular genetic analysis for specific mutations.

Related Experiment Videos

  • Consideration of in utero radiographs for diagnostic clarification.
  • Postpartum autopsy, imaging, and laboratory analyses for lethal cases.

    • Main Results:

    • Ultrasound is effective in identifying numerous skeletal dysplasias and limb deformities.
    • Molecular genetics holds potential for early, specific diagnoses.
    • Multidisciplinary collaboration aids in complex case management.
    • Postpartum investigations are crucial for unconfirmed lethal diagnoses.

    Conclusions:

    • Prenatal ultrasound is a key tool for detecting skeletal dysplasias and limb deformities.
    • Future molecular genetic testing will likely enhance first-trimester diagnostic accuracy.
    • A combined approach of imaging, genetics, and clinical expertise is vital for optimal patient care.