TY  - CHAP
M1  - Book, Section
TI  - Ultrasound Detection of Chromosomal Anomalies, Congenital Infections, and Syndromes
A1  - Gonçalves, Luis F.
A1  - Berger, Julie
A1  - Jeanty, Philippe
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  TermsScreening  test:  usually  non-invasive  tests  that  are  designed  to  identify  people  with  an  increased  risk  for  a  certain  condition  before  they  realize  they  have  it.  Nuchal  translucency  thickness,  first  trimester  screening,  quad  screening,  sequential  screening,  integrated  screening,  and  maternal  cell-free  DNA  provide  risk  estimates  for  trisomy  21  for  low  risk  patients.Diagnostic  test:  test  aimed  at  providing  certainty  about  a  specific  diagnosis  in  an  individual  suspected  to  have  the  condition.  Example:  a  fetal  karyotype  obtained  by  amniocentesis  conclusively  diagnoses  or  excludes  trisomy  21  in  a  patient  at  risk  based  on  screening  tests  (e.g.  nuchal  translucency  thickness  or  cell-free  DNA  screening).Phenotype:  constellation  of  observable  characteristics  or  traits  of  an  individual.Karyotype:  number  and  appearance  of  chromosomes  in  the  cell  nucleus  displayed  as  a  systematized  arrangement  of  chromosome  pairs  in  descending  order  of  size.Fluorescent  in  situ  hybridization  (FISH):  molecular  cytogenetic  technique  that  uses  fluorescent  probes  that  identify  specific  DNA  sequences  on  chromosomes.  The  test  provides  a  quick  method  to  determine  the  number  of  copies  of  a  particular  chromosome  without  the  need  to  produce  a  karyotype.Chromosomal  microarray:  method  to  identify  submicroscopic  deletions  and  duplications  (copy  number  variants  or  CNVs)  across  the  genome  via  molecular  methods.Variant  of  uncertain  significance  (VOUS):  allele  or  variant  of  a  gene  whose  significance  to  health  is  unknown.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - obgyn.mhmedical.com/content.aspx?aid=1151035299
ER  -