Atypicalfetalbraindevelopmentinfetuseswithnon- syndromicisolatedmusculoskeletalbirthdefects( niMSBDs)

Non-syndromic, isolatedmusculoskeletalbirthdefects(niMSBDs) areamongtheleadingcausesofpediatrichospitalization. However, littleisknownaboutbraindevelopmentinniMSBDs. OurstudyaimedtocharacterizeprenatalbraindevelopmentinfetuseswithniMSBDsandidentifyalteredbrainregionscomparedtocontrols. WeretrospectivelyanalyzedinvivostructuralT2-weightedMRIsof99fetuses( 48controlsand51niMSBDscases). Foreachgroup(19-31and>31gestationalweeks(GW)), weconductedrepeatedmeasuresregressionanalysiswithrelativeregionalvolume(% brainhemisphere) asadependentvariable(adjustedforage, side, andinteractions). Between19and31GW, fetuseswithniMSBDshadasignificantly(P< 0.001) smallerrelativevolumeoftheintermediatezone(22.9 +/- 3.2%) andcerebellum(-16.1 +/- 3.5%,) andalargerrelativevolumeofproliferativezones(38.3 +/- 7.2%), theganglioniceminence( 34.8 +/- 7.3%), andtheventricles(35.8 +/- 8.0%). Between32and37GW, comparedtothecontrols, niMSBDsshowedsignificantlysmallervolumesofcentralregions(9.1 +/- 2.1%) andlargervolumesofthecorticalplate. OurresultssuggestthereisalteredbraindevelopmentinfetuseswithniMSBDscomparedtocontrols( 13.1 +/- 4.2%). FurtherbasicandtranslationalneuroscienceresearchisneededtobettervisualizethesedifferencesandtocharacterizethealtereddevelopmentinfetuseswithspecificniMSBDs.