title: Dilated cavum septi pellucidi in fetuses with microdeletion 22q11.
abstract: OBJECTIVE
  The cavum septi pellucidi (CSP) is an easily recognizable landmark in the fetal brain. CSP disappears after birth to form the septum pellucidum. Children with microdeletion 22q11 (del. 22q11) were, however, reported to have a persistent dilated CSP. This study was designed to examine whether the CSP is dilated in fetuses with del.22q11.
  
  
  METHODS
  This was a case-control study where the CSP width was measured in normal fetuses from 16 to 34 weeks and in fetuses with del. 22q11. CSP width was correlated to the biparietal diameter (BPD). Reference curves were constructed, and z-scores calculated.
  
  
  RESULTS
  Cavum septi pellucidi width in 260 normal fetuses showed a linear correlation with BPD. The study group consisted of 37 fetuses with del. 22q11. In 25/37 (67.5%) of fetuses with del. 22q11, the CSP was enlarged with a mean z-score of 2.64 (p < 0.0001). Fetuses with a BPD > 50 mm (>22 weeks of gestation) had a dilated CSP in 85.7% (24/28).
  
  
  CONCLUSIONS
  The CSP is a structure routinely evaluated in screening ultrasound. A wide CSP is found in second trimester fetuses with del. 22q11. A dilated CSP may be an important sonographic marker for the presence of del. 22q11 along with conotruncal malformations and thymic hypoplasia. © 2016 John Wiley & Sons, Ltd.
authors: Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany. chaoui@feindiagnostik.de.
authors: Rabih
authors: R
authors: Chaoui
authors: Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany.
authors: Kai-Sven
authors: KS
authors: Heling
authors: Division of Maternal-Fetal Medicine of the Department of Obstetrics & Gynecology, Eastern Virginia Medical School, Norfolk, VA, USA.
authors: Yili
authors: Y
authors: Zhao
authors: Division of Maternal-Fetal Medicine of the Department of Obstetrics & Gynecology, Eastern Virginia Medical School, Norfolk, VA, USA.
authors: Elena
authors: E
authors: Sinkovskaya
authors: Division of Maternal-Fetal Medicine of the Department of Obstetrics & Gynecology, Eastern Virginia Medical School, Norfolk, VA, USA.
authors: Alfred
authors: A
authors: Abuhamad
authors: Center for Prenatal Diagnosis, Munich, Germany.
authors: Katrin
authors: K
authors: Karl
mesh_terms: D058165:22q11 Deletion Syndrome / Q000000981:diagnostic imaging*; D016022:Case-Control Studies; D004108:Dilatation, Pathologic / Q000000981:diagnostic imaging; D005260:Female; D005333:Fetus / Q000000981:diagnostic imaging*; D006257:Head / Q000000981:diagnostic imaging*; D006330:Heart Defects, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006801:Humans; D016014:Linear Models; D009421:Nervous System Malformations / Q000150:complications / Q000000981:diagnostic imaging*; D009929:Organ Size; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011263:Pregnancy Trimester, Third; D012189:Retrospective Studies; D012688:Septum Pellucidum / Q000002:abnormalities / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal