TY  - CHAP
M1  - Book, Section
TI  - Fetal Anomalies: Overview
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.
PY  - 2017
T2  - Fleischer's Sonography in Obstetrics and Gynecology: Textbook and Teaching Cases, 8e
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.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - obgyn.mhmedical.com/content.aspx?aid=1151033063
ER  -