title: Fetal brain anomalies detection during the first trimester: expanding the scope of antenatal sonography.
abstract: OBJECTIVE
  The purpose of this study was to describe fetal brain anomalies identified during nuchal translucency (NT) examination and their clinical management.
  
  
  METHODS
  In this retrospective study, we evaluated charts of pregnant women performed the first trimester scan (FTS) between 1.1.2011 and 31.12.14 in a tertiary referral center. Study population consisted of 952 patients scheduled for routine NT scan for aneuploidy screening between 11.0 and 13.6 gestational weeks, and 32 referred patients due to suspicious CNS finding during previous NT scan. Targeted brain assessment was performed according to clinical judgment during routine scans and in all referred cases. Patients with suspicious CNS findings were referred to pregnancy termination or further evaluation including genetic consultation and second trimester anatomical scan.
  
  
  RESULTS
  Thirty-one fetuses were diagnosed with variable brain anomalies. Acrania/anencephaly was the most common defect (nine cases) while the rarest findings were inter-hemispheric cyst, microcephaly, and Walker-Warburg Syndrome (one case each). Genetic testing revealed variable results. Twenty-six (83.9%) couples decided to terminate their pregnancies.
  
  
  CONCLUSIONS
  The current report highlights the evolving ability to detect CNS malformation during NT scan. FTS novel findings expand our embryological understanding of early fetal development. While severe anomalies can be managed by early termination, other defects necessitate comprehensive evaluation and repetitive imaging.
authors.affiliation: a Antenatal Diagnostic Unit, Department of Obstetrics and Gynecology , Sheba Medical Center , Tel HaShomer , Ramat Gan , Israel.|b Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.
authors.forename: Eldad
authors.initials: E
authors.lastname: Katorza
authors.affiliation: a Antenatal Diagnostic Unit, Department of Obstetrics and Gynecology , Sheba Medical Center , Tel HaShomer , Ramat Gan , Israel.|b Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.|c Pinchas Borenstein Talpiot Medical Leadership Program , Sheba Medical Center , Tel HaShomer , Ramat Gan , Israel.
authors.forename: Itai
authors.initials: I
authors.lastname: Gat
authors.affiliation: a Antenatal Diagnostic Unit, Department of Obstetrics and Gynecology , Sheba Medical Center , Tel HaShomer , Ramat Gan , Israel.|b Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.
authors.forename: Nir
authors.initials: N
authors.lastname: Duvdevani
authors.affiliation: a Antenatal Diagnostic Unit, Department of Obstetrics and Gynecology , Sheba Medical Center , Tel HaShomer , Ramat Gan , Israel.|b Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.
authors.forename: Nir
authors.initials: N
authors.lastname: Meller
authors.affiliation: a Antenatal Diagnostic Unit, Department of Obstetrics and Gynecology , Sheba Medical Center , Tel HaShomer , Ramat Gan , Israel.|b Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.
authors.forename: Noam
authors.initials: N
authors.lastname: Pardo
authors.affiliation: a Antenatal Diagnostic Unit, Department of Obstetrics and Gynecology , Sheba Medical Center , Tel HaShomer , Ramat Gan , Israel.|b Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.
authors.forename: Eran
authors.identifier: http://orcid.org/0000-0001-5496-4866
authors.initials: E
authors.lastname: Barzilay
authors.affiliation: a Antenatal Diagnostic Unit, Department of Obstetrics and Gynecology , Sheba Medical Center , Tel HaShomer , Ramat Gan , Israel.|b Sackler School of Medicine , Tel Aviv University , Tel Aviv , Israel.
authors.forename: Reuven
authors.initials: R
authors.lastname: Achiron
mesh_terms: D000782:Aneuploidy; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005333:Fetus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012189:Retrospective Studies
keywords: First trimester scan; fetal brain anomalies; prenatal care