ArticleNeurology. Genetics2021
Chromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa Anomalies.
Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- Prenatal characteristics and clinical outcomes in 82 cases with agenesis of corpus callosum: single tertiary center experience.BMC pregnancy and childbirth · 2026Article
- Partial agenesis of the corpus callosum: Prenatal ultrasound characteristics, associations, and outcome.Acta obstetricia et gynecologica Scandinavica · 2025Article
- Fetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options.Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2025Review
- Assessing the Agreement Between Diffusion Tension Imaging (DTI) and T2-Weighted MRI Sequence for Biometry of the Fetal Corpus Callosum.Diagnostics (Basel, Switzerland) · 2024Article
- Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.medRxiv : the preprint server for health sciences · 2024Article
- Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.Orphanet journal of rare diseases · 2024Review
- Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities.International journal of general medicine · 2024Article
- Genetic heterogeneity in corpus callosum agenesis.Frontiers in genetics · 2022Review
- Anomalies of the Corpus Callosum in Prenatal Ultrasound: A Narrative Review for Diagnosis and Further Counseling.Journal of medical ultrasoundReview
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveWe investigated the detection rate of clinically significant chromosomal microarray analysis (CMA) results in pregnancies with sonographic diagnosis of fetal corpus callosum anomalies (CCA) or posterior fossa anomalies (PFA).
methodsAll CMA tests in pregnancies with CCA or PFA performed between January 2015 and June 2020 were retrospectively evaluated from the Israeli Ministry of Health database. The rate of CMA with clinically significant (pathogenic or likely pathogenic) findings was calculated and compared to a local Israeli cohort of 5,541 pregnancies with normal ultrasound.
resultsOne hundred eighty-two pregnancies were enrolled: 102 cases with CCA and 89 with PFA (9 cases had both). Clinically significant CMA results were found in 7/102 of CCA (6.9%) and in 7/89 of PFA (7.9%) cases. The CMA detection rate in pregnancies with isolated CCA (2/57, 3.5%) or PFA (2/50, 4.0%) was lower than in nonisolated cases, including additional CNS and/or extra-CNS sonographic anomalies (CCA-5/45, 11.1%; PFA-5/39, 12.8%), but this was not statistically significant. However, the rate among pregnancies that had extra-CNS anomalies, with or without additional CNS involvement (CCA-5/24, 20.8%; PFA-5/29, 17.2%), was significantly higher compared to all other cases (
conclusionsOur findings suggest that CMA testing is beneficial for the genetic workup of pregnancies with CCA or PFA, and is probably most informative when additional extra-CNS anomalies are observed.
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Registered trials
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