RT Book, Section
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.
SR Print(0)
ID 1151035299
T1 Ultrasound Detection of Chromosomal Anomalies, Congenital Infections, and Syndromes
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=1151035299
RD 2024/04/19
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.