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

Third-trimester hyperechogenic bowel in Down syndrome

W Sepulveda1, S Bower, N M Fisk

  • 1Centre for Fetal Care, Royal Postgraduate Medical School, Queen Charlotte's and Chelsea Hospital.

American Journal of Obstetrics and Gynecology
|January 1, 1995
PubMed
Summary

This case report describes a Down syndrome fetus where hyperechogenic bowel was not seen in the second trimester but was detected in the third trimester. The authors suggest that this finding could be a late manifestation of Down syndrome. The report highlights the importance of late-trimester ultrasounds in Down syndrome diagnosis. It does not claim this is a new marker but adds to the existing literature on Down syndrome's variable ultrasound features. The absence of hyperechogenic bowel in the second trimester does not rule out Down syndrome. The authors emphasize the need for continued monitoring in high-risk pregnancies. This case may influence future diagnostic approaches in late gestation. The findings underscore the variability of Down syndrome's ultrasound markers.

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

Search for Light Pseudoscalar Bosons, Pair-Produced in Higgs Boson Decays in the Four-Electron Final State in Proton-Proton Collisions at sqrt[s]=13  TeV.

Physical review letters·2026
Same author

First Evidence for Mixing-Induced CP Violation in B_{s}^{0}→J/ψϕ(1020) Decays in pp Collisions at sqrt[s]=13  TeV.

Physical review letters·2026
Same author

Observation of Suppressed Charged-Particle Production in Ultrarelativistic Oxygen-Oxygen Collisions.

Physical review letters·2026
Same author

Measurement of D^{0} Meson Photoproduction in Ultraperipheral Heavy Ion Collisions.

Physical review letters·2026
Same author

Observation of tWZ Production at the CMS Experiment.

Physical review letters·2026
Same author

First Exclusive Reconstruction of the B^{*+}, B^{*0}, and B_{s}^{*0} Mesons and Precise Measurement of Their Masses.

Physical review letters·2026

Area of Science:

  • Prenatal ultrasound imaging in obstetrics
  • Genetic disorders in fetal medicine
  • Developmental anomalies in Down syndrome

Background:

Down syndrome is a well-known chromosomal disorder associated with various prenatal ultrasound markers. One such marker is hyperechogenic bowel, typically observed in the second trimester. Prior research has shown that this finding correlates with an increased risk of Down syndrome. However, the timing of this marker's appearance remains unclear. No prior work had resolved whether hyperechogenic bowel could appear later in gestation. This uncertainty drives the need to examine cases where the marker is absent in the second trimester but present in the third. Understanding the temporal variability of ultrasound findings in Down syndrome could improve diagnostic accuracy. The absence of hyperechogenic bowel in early scans does not rule out Down syndrome. This gap motivated the presentation of a case where hyperechogenic bowel was detected only in the third trimester.

Purpose Of The Study:

This case report aimed to highlight a rare scenario where hyperechogenic bowel was not observed in the second trimester but was detected in the third trimester in a fetus with Down syndrome. The goal was to expand the understanding of Down syndrome's ultrasound manifestations. The motivation stemmed from the need to recognize that ultrasound markers can appear at different gestational stages. This case may suggest that hyperechogenic bowel can manifest later in pregnancy. The study sought to contribute to the literature on Down syndrome's variable ultrasound findings. It aimed to emphasize the importance of late-trimester scans in Down syndrome diagnosis. The authors proposed that hyperechogenic bowel may be a late sign in some cases. This report does not claim to redefine diagnostic criteria but adds to the existing evidence base.

Keywords:
hyperechogenic bowelDown syndrome diagnosisprenatal ultrasoundthird-trimester findings

Frequently Asked Questions

Yes, this case report suggests hyperechogenic bowel may be a late manifestation of Down syndrome.

This case shows that Down syndrome can be diagnosed even if hyperechogenic bowel is absent in the second trimester.

The authors suggest that late ultrasound findings like hyperechogenic bowel may be relevant for Down syndrome diagnosis.

Postnatal karyotype is essential to confirm Down syndrome after prenatal ultrasound findings.

Related Experiment Videos

Main Methods:

The authors described a single case of Down syndrome diagnosed postnatally. The prenatal ultrasound findings were reviewed, focusing on bowel echogenicity in both the second and third trimesters. The second-trimester scan showed normal bowel echogenicity. The third-trimester scan revealed hyperechogenic bowel. The case was compared to prior literature on Down syndrome and ultrasound markers. No additional diagnostic tests were performed in this case. The authors relied on standard ultrasound imaging protocols. The report does not include statistical analysis or comparative data from multiple cases.

Main Results:

The second-trimester ultrasound showed normal bowel echogenicity. The third-trimester scan revealed hyperechogenic bowel. Postnatal karyotype confirmed Down syndrome. This finding suggests hyperechogenic bowel may appear later in gestation. The authors propose that this could be a late manifestation of Down syndrome. No other ultrasound abnormalities were reported in the second trimester. The case adds to the limited literature on late-onset ultrasound markers. The report does not claim this is a common occurrence but highlights its possibility.

Conclusions:

The authors suggest that hyperechogenic bowel may be a late ultrasound finding in Down syndrome. This case indicates that the marker can appear in the third trimester. The absence of hyperechogenic bowel in the second trimester does not exclude Down syndrome. The authors do not propose that this is a new diagnostic marker but a possible late sign. This report contributes to the understanding of Down syndrome's variable ultrasound features. The findings may influence future diagnostic approaches in late gestation. The authors do not generalize this to all Down syndrome cases but highlight its relevance in this specific instance. This case underscores the need for continued ultrasound monitoring in high-risk pregnancies.

This case is unique because hyperechogenic bowel was detected only in the third trimester, not in the second.

The authors propose that hyperechogenic bowel may be a late sign of Down syndrome in some cases.