RT Book, Section
A1 Gonçalves, Luís F.
A1 Yeo, Lami
A1 Ruano, Rodrigo
A1 Romero, Roberto J.
A1 Kim, Sun Kwon
A2 Fleischer, Arthur C.
A2 Abramowicz, Jacques S.
A2 Gonçalves, Luis F.
A2 Manning, Frank A.
A2 Monteagudo, Ana
A2 Timor, Ilan E.
A2 Toy, Eugene C.
SR Print(0)
ID 1151033063
T1 Fetal Anomalies: Overview
T2 Fleischer's Sonography in Obstetrics and Gynecology: Textbook and Teaching Cases, 8e
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9781259641367
LK obgyn.mhmedical.com/content.aspx?aid=1151033063
RD 2024/04/23
AB Key  TermsPhenotype:  all  morphologic  and  functional  attributes  of  an  individual.  The  term  may  also  refer  to  the  organs,  tissues,  or  cells  of  that  individual,  excluding  the  primary  genome  morphology.Genotype:  primary  DNA  sequence  of  an  individual.  It  may  also  refer  to  the  organs,  tissues,  or  cells  of  the  individual.  Includes  both  nuclear  and  mitochondrial  DNA.Morphologic  anomaly:  macroscopic  and/or  microscopic  anatomic  phenotype  representing  a  substantial  departure  from  the  population.  A  substantial  departure  implies  that  the  anomaly  is  seen  in  a  small  fraction  of  the  population,  generally  less  than  2.5%.  Malformations,  deformations,  disruptions,  dysplasias,  and  sequences  are  types  of  morphologic  anomalies.  Morphologic  anomalies  can  also  be  subdivided  into  major  and  minor.Major  morphologic  anomaly:  carries  a  significant  consequence  for  the  health  or  appearance  of  the  individual.Minor  morphologic  anomaly:  carries  minimal  or  no  health  consequence  for  the  individual.  However,  it  may  have  a  modest  impact  on  appearance.Malformation:  nonprogressive,  congenital  morphologic  anomaly  of  a  single  organ  or  body  part  caused  by  alteration  of  a  primary  developmental  process.  Malformations  typically  arise  during  embryogenesis  and  are  generally  caused  by  gene  mutation,  teratogen  exposure,  or  both.Deformation:  alteration  in  shape  or  position  of  a  body  part  caused  by  aberrant  mechanical  force(s)  distorting  a  normal  structure.  Deformations  are  causally  heterogeneous  and  may  occur  as  isolated  phenomena  or  be  a  part  of  a  broader  malformation  pattern,  such  as  a  syndrome.  Deformations  generally  occur  after  organogenesis  and  may  be  seen  at  any  time  during  pregnancy  or  postnatally.  Deformations  may  be  reversible.Disruption:  nonprogressive  morphologic  anomaly  caused  by  breakdown  of  a  body  structure  or  organ  with  normal  developmental  potential.Dysplasia:  dynamic  or  ongoing  alteration  of  cellular  constitution,  tissue  organization,  or  function  leading  to  a  morphologic  anomaly  within  a  specific  organ  or  tissue.Syndrome:  in  dysmorphology,  a  syndrome  represents  a  pattern  of  causally  related  anomalies,  at  least  one  of  which  is  morphologic.  These  anomalies  may  not  be  pathogenetically  related.  Syndromes  can  be  characterized  by  a  combination  of  malformations,  deformations,  disruptions,  sequences,  and  dysplasias.  The  multiple  anomalies  present  in  a  syndrome  are  caused  directly  and  independently  by  the  underlying  etiologic  abnormality.Sequence:  one  or  more  secondary  morphologic  anomalies  that  cascade  from  a  single  malformation,  disruption,  dysplasia,  or  deformation.  The  downstream  anomalies  are  not  necessarily  directly  attributable  to  the  primary  etiology.Association:  pattern  of  anomalies  that  occur  together  more  often  than  expected  by  chance.  At  least  two  morphologic  anomalies  must  be  present.  A  causal  relationship  is  not  known.Polytopic  field  defect:  group  of  anomalies  derived  from  disturbance  of  a  single  developmental  field.  A  developmental  field  is  a  region  or  part  of  an  embryo  that  responds  as  a  unit  to  embryonic  interactions,  and  results  in  complex  or  multiple  anatomic  structures.Morphologic  variant:  mild  anatomic  phenotype  that  represents  a  small  departure  from  the  appropriate  reference  population.  A  small  departure  implies  that  the  anomaly  is  found  in  approximately  2.5%  to  10%  of  the  appropriate  reference  population.Based  partially  on  work  by  the  Elements  of  Morphology  Consortium,  2013  revision.  Hennekam  RC,  Biesecker  LG,  Allanson  JE,  et  al.  Elements  of  morphology:  general  terms  for  congenital  anomalies.  Am  J  Med  Genet.  2013;161A(11):2726-2733.