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

Congenital malformations and chromosomal aberrations.

J Battin1

  • 1Clinique de Pédiatrie et Génétique médicale, Hôpital des Enfants, Bordeaux, France.

Fetal Therapy
|January 1, 1986
PubMed
Summary

Fetal echography may appear normal despite chromosomal aberrations like trisomy, potentially masking conditions such as trisomy 13 and 18. Specific brain anomalies in trisomic fetuses are not always present, complicating prenatal diagnosis.

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

Bulletin de l'Academie nationale de medecine·2020
Same author

[Pandemics: Lessons from the past].

Bulletin de l'Academie nationale de medecine·2020
Same author

[Return of ancestral fears with coronavirus, COVID-19].

Bulletin de l'Academie nationale de medecine·2020
Same author

Potential responses to climate change in organisms with complex life histories: evolution and plasticity in Pacific salmon.

Evolutionary applications·2015
Same author

[Hospitals for children in Bordeaux: three centuries of history].

Revue de la Societe francaise d'histoire des hopitaux·2003
Same author

Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.

Prenatal diagnosis·2002

Area of Science:

  • Prenatal Diagnosis
  • Genetics
  • Neurology

Background:

  • Chromosomal aberrations can cause intellectual disability without obvious fetal malformations.
  • Fetal ultrasound may not detect all cases of trisomy, leading to misinterpretation of normal scans.
  • Trisomic brain anomalies are inconsistent, posing challenges for accurate prenatal assessment.

Purpose of the Study:

  • To investigate the relationship between chromosomal aberrations and fetal brain development.
  • To evaluate the diagnostic utility of specific brain anomalies in identifying trisomies.
  • To address the limitations of current prenatal screening for fetal integrity.

Main Methods:

  • Review of literature on chromosomal aberrations and associated fetal brain anomalies.
  • Analysis of specific brain malformations (holoprosencephaly, agenesis of corpus callosum) in trisomy 13 and 18.
  • Distinguishing true malformations from signs of fetal immaturity (heterotopias).

Main Results:

  • Absence of cerebral malformations on echography does not rule out intellectual disability due to trisomy.
  • Holoprosencephaly (61%) and agenesis of corpus callosum (8%) show some specificity for trisomy 13 and 18, respectively.
  • Cerebral and cerebellar heterotopias are indicators of immaturity, not definitive malformations.

Conclusions:

  • Current prenatal diagnostic methods have limitations in detecting all chromosomal abnormalities.
  • Further research is needed to improve the detection of fetal conditions and meet parental expectations for fetal integrity.
  • Accurate interpretation of fetal neuroimaging requires understanding the variable presentation of trisomic brain anomalies.

Related Experiment Videos