Chromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa Anomalies.

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Jun 2021
Historique:
received: 11 04 2020
accepted: 17 02 2021
entrez: 3 6 2021
pubmed: 4 6 2021
medline: 4 6 2021
Statut: epublish

Résumé

We 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). All 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. One 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 ( Our 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.

Identifiants

DOI: 10.1212/NXG.0000000000000585 PMID: 34079909 PMC: PMC8163489
pubmed: 34079909
doi: 10.1212/NXG.0000000000000585
pii: NG2020013870
pmc: PMC8163489
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e585

Informations de copyright

Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Lior Greenbaum (L)

The Danek Gertner Institute of Human Genetics (L.G., M.B., H.Y., S.R.), Sheba Medical Center, Tel Hashomer; The Joseph Sagol Neuroscience Center (L.G.), Sheba Medical Center, Tel Hashomer; Sackler Faculty of Medicine (L.G., I.M., R.S.-H., M.B., H.Y., E.K.), Tel Aviv University; Recanati Genetics Institute (I.M., R.S.-H.), Beilinson Hospital, Rabin Medical Center, Petach Tikva; Genetics Institute (L.S.-D.), Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa; Internal Medicine A (H.Y.), Sheba Medical Center, Tel Hashomer; The Simon Winter Institute for Human Genetics (A.S.), Bnai Zion Medical Center, Haifa; Department of Obstetrics and Gynecology (E.K.), Sheba Medical Center, Tel Hashomer; and Department of Community Genetics (A.S.), Public Health Services, Ministry of Health, Jerusalem, Israel.

Idit Maya (I)

The Danek Gertner Institute of Human Genetics (L.G., M.B., H.Y., S.R.), Sheba Medical Center, Tel Hashomer; The Joseph Sagol Neuroscience Center (L.G.), Sheba Medical Center, Tel Hashomer; Sackler Faculty of Medicine (L.G., I.M., R.S.-H., M.B., H.Y., E.K.), Tel Aviv University; Recanati Genetics Institute (I.M., R.S.-H.), Beilinson Hospital, Rabin Medical Center, Petach Tikva; Genetics Institute (L.S.-D.), Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa; Internal Medicine A (H.Y.), Sheba Medical Center, Tel Hashomer; The Simon Winter Institute for Human Genetics (A.S.), Bnai Zion Medical Center, Haifa; Department of Obstetrics and Gynecology (E.K.), Sheba Medical Center, Tel Hashomer; and Department of Community Genetics (A.S.), Public Health Services, Ministry of Health, Jerusalem, Israel.

Lena Sagi-Dain (L)

The Danek Gertner Institute of Human Genetics (L.G., M.B., H.Y., S.R.), Sheba Medical Center, Tel Hashomer; The Joseph Sagol Neuroscience Center (L.G.), Sheba Medical Center, Tel Hashomer; Sackler Faculty of Medicine (L.G., I.M., R.S.-H., M.B., H.Y., E.K.), Tel Aviv University; Recanati Genetics Institute (I.M., R.S.-H.), Beilinson Hospital, Rabin Medical Center, Petach Tikva; Genetics Institute (L.S.-D.), Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa; Internal Medicine A (H.Y.), Sheba Medical Center, Tel Hashomer; The Simon Winter Institute for Human Genetics (A.S.), Bnai Zion Medical Center, Haifa; Department of Obstetrics and Gynecology (E.K.), Sheba Medical Center, Tel Hashomer; and Department of Community Genetics (A.S.), Public Health Services, Ministry of Health, Jerusalem, Israel.

Rivka Sukenik-Halevy (R)

The Danek Gertner Institute of Human Genetics (L.G., M.B., H.Y., S.R.), Sheba Medical Center, Tel Hashomer; The Joseph Sagol Neuroscience Center (L.G.), Sheba Medical Center, Tel Hashomer; Sackler Faculty of Medicine (L.G., I.M., R.S.-H., M.B., H.Y., E.K.), Tel Aviv University; Recanati Genetics Institute (I.M., R.S.-H.), Beilinson Hospital, Rabin Medical Center, Petach Tikva; Genetics Institute (L.S.-D.), Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa; Internal Medicine A (H.Y.), Sheba Medical Center, Tel Hashomer; The Simon Winter Institute for Human Genetics (A.S.), Bnai Zion Medical Center, Haifa; Department of Obstetrics and Gynecology (E.K.), Sheba Medical Center, Tel Hashomer; and Department of Community Genetics (A.S.), Public Health Services, Ministry of Health, Jerusalem, Israel.

Michal Berkenstadt (M)

The Danek Gertner Institute of Human Genetics (L.G., M.B., H.Y., S.R.), Sheba Medical Center, Tel Hashomer; The Joseph Sagol Neuroscience Center (L.G.), Sheba Medical Center, Tel Hashomer; Sackler Faculty of Medicine (L.G., I.M., R.S.-H., M.B., H.Y., E.K.), Tel Aviv University; Recanati Genetics Institute (I.M., R.S.-H.), Beilinson Hospital, Rabin Medical Center, Petach Tikva; Genetics Institute (L.S.-D.), Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa; Internal Medicine A (H.Y.), Sheba Medical Center, Tel Hashomer; The Simon Winter Institute for Human Genetics (A.S.), Bnai Zion Medical Center, Haifa; Department of Obstetrics and Gynecology (E.K.), Sheba Medical Center, Tel Hashomer; and Department of Community Genetics (A.S.), Public Health Services, Ministry of Health, Jerusalem, Israel.

Hagith Yonath (H)

The Danek Gertner Institute of Human Genetics (L.G., M.B., H.Y., S.R.), Sheba Medical Center, Tel Hashomer; The Joseph Sagol Neuroscience Center (L.G.), Sheba Medical Center, Tel Hashomer; Sackler Faculty of Medicine (L.G., I.M., R.S.-H., M.B., H.Y., E.K.), Tel Aviv University; Recanati Genetics Institute (I.M., R.S.-H.), Beilinson Hospital, Rabin Medical Center, Petach Tikva; Genetics Institute (L.S.-D.), Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa; Internal Medicine A (H.Y.), Sheba Medical Center, Tel Hashomer; The Simon Winter Institute for Human Genetics (A.S.), Bnai Zion Medical Center, Haifa; Department of Obstetrics and Gynecology (E.K.), Sheba Medical Center, Tel Hashomer; and Department of Community Genetics (A.S.), Public Health Services, Ministry of Health, Jerusalem, Israel.

Shlomit Rienstein (S)

The Danek Gertner Institute of Human Genetics (L.G., M.B., H.Y., S.R.), Sheba Medical Center, Tel Hashomer; The Joseph Sagol Neuroscience Center (L.G.), Sheba Medical Center, Tel Hashomer; Sackler Faculty of Medicine (L.G., I.M., R.S.-H., M.B., H.Y., E.K.), Tel Aviv University; Recanati Genetics Institute (I.M., R.S.-H.), Beilinson Hospital, Rabin Medical Center, Petach Tikva; Genetics Institute (L.S.-D.), Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa; Internal Medicine A (H.Y.), Sheba Medical Center, Tel Hashomer; The Simon Winter Institute for Human Genetics (A.S.), Bnai Zion Medical Center, Haifa; Department of Obstetrics and Gynecology (E.K.), Sheba Medical Center, Tel Hashomer; and Department of Community Genetics (A.S.), Public Health Services, Ministry of Health, Jerusalem, Israel.

Adel Shalata (A)

The Danek Gertner Institute of Human Genetics (L.G., M.B., H.Y., S.R.), Sheba Medical Center, Tel Hashomer; The Joseph Sagol Neuroscience Center (L.G.), Sheba Medical Center, Tel Hashomer; Sackler Faculty of Medicine (L.G., I.M., R.S.-H., M.B., H.Y., E.K.), Tel Aviv University; Recanati Genetics Institute (I.M., R.S.-H.), Beilinson Hospital, Rabin Medical Center, Petach Tikva; Genetics Institute (L.S.-D.), Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa; Internal Medicine A (H.Y.), Sheba Medical Center, Tel Hashomer; The Simon Winter Institute for Human Genetics (A.S.), Bnai Zion Medical Center, Haifa; Department of Obstetrics and Gynecology (E.K.), Sheba Medical Center, Tel Hashomer; and Department of Community Genetics (A.S.), Public Health Services, Ministry of Health, Jerusalem, Israel.

Eldad Katorza (E)

The Danek Gertner Institute of Human Genetics (L.G., M.B., H.Y., S.R.), Sheba Medical Center, Tel Hashomer; The Joseph Sagol Neuroscience Center (L.G.), Sheba Medical Center, Tel Hashomer; Sackler Faculty of Medicine (L.G., I.M., R.S.-H., M.B., H.Y., E.K.), Tel Aviv University; Recanati Genetics Institute (I.M., R.S.-H.), Beilinson Hospital, Rabin Medical Center, Petach Tikva; Genetics Institute (L.S.-D.), Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa; Internal Medicine A (H.Y.), Sheba Medical Center, Tel Hashomer; The Simon Winter Institute for Human Genetics (A.S.), Bnai Zion Medical Center, Haifa; Department of Obstetrics and Gynecology (E.K.), Sheba Medical Center, Tel Hashomer; and Department of Community Genetics (A.S.), Public Health Services, Ministry of Health, Jerusalem, Israel.

Amihood Singer (A)

The Danek Gertner Institute of Human Genetics (L.G., M.B., H.Y., S.R.), Sheba Medical Center, Tel Hashomer; The Joseph Sagol Neuroscience Center (L.G.), Sheba Medical Center, Tel Hashomer; Sackler Faculty of Medicine (L.G., I.M., R.S.-H., M.B., H.Y., E.K.), Tel Aviv University; Recanati Genetics Institute (I.M., R.S.-H.), Beilinson Hospital, Rabin Medical Center, Petach Tikva; Genetics Institute (L.S.-D.), Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa; Internal Medicine A (H.Y.), Sheba Medical Center, Tel Hashomer; The Simon Winter Institute for Human Genetics (A.S.), Bnai Zion Medical Center, Haifa; Department of Obstetrics and Gynecology (E.K.), Sheba Medical Center, Tel Hashomer; and Department of Community Genetics (A.S.), Public Health Services, Ministry of Health, Jerusalem, Israel.

Classifications MeSH