{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:46:39Z","timestamp":1790761599747,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,1,28]],"date-time":"2019-01-28T00:00:00Z","timestamp":1548633600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      This study summarizes the results of prenatal diagnosis due to a history of\n                      <jats:italic>de novo<\/jats:italic>\n                      mutation in a previous pregnancy, in a tertiary center in Israel, over a 10\u2010year period.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We sorted all cases of\n                      <jats:italic>de novo<\/jats:italic>\n                      mutations from a pool of 2,260 pregnancies for which prenatal molecular diagnosis was applied, between the years 2008 and 2017. We identified 122 molecular prenatal diagnosis performed for\n                      <jats:italic>de novo<\/jats:italic>\n                      mutations, in 90 women.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      While the total number of yearly prenatal diagnoses stayed stable, a linear increase was detected in the number of cases for which the procedure was done due to a previous\n                      <jats:italic>de novo<\/jats:italic>\n                      mutation: from 3 cases in 2008 to 24 cases in 2017. The most common diseases were Rett syndrome (19), neurofibromatosis Type\u20101 (12) and Tuberous sclerosis (5). Recurrence occurred in 3 of the 90 women (3.3%) and hotspot mutations were identified in two genes accounting for 11 cases. We did not find a difference in paternal age at first occurrence of the\n                      <jats:italic>de novo<\/jats:italic>\n                      mutation between the study group and the control group.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The large increase in the annual number of prenatal diagnoses performed due to a previous pregnancy with a\n                      <jats:italic>de novo<\/jats:italic>\n                      mutation reflects the growing understanding regarding the role of these mutations in the pathogenesis of genetic diseases.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.573","type":"journal-article","created":{"date-parts":[[2019,1,29]],"date-time":"2019-01-29T00:59:27Z","timestamp":1548723567000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Prenatal diagnosis for\n                    <i>de novo<\/i>\n                    mutations: Experience from a tertiary center over a 10\u2010year period"],"prefix":"10.1002","volume":"7","author":[{"given":"Ori","family":"Eyal","sequence":"first","affiliation":[{"name":"The Danek Gertner Institute of Human Genetics Sheba Medical Center, Tel Hashomer Ramat Gan Israel"},{"name":"Sackler Faculty of Medicine Tel\u2010Aviv University Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Berkenstadt","sequence":"additional","affiliation":[{"name":"The Danek Gertner Institute of Human Genetics Sheba Medical Center, Tel Hashomer Ramat Gan Israel"},{"name":"Sackler 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