RT Book, Section
A1 Bianchi, Diana W.
A1 Crombleholme, Timothy M.
A1 D'Alton, Mary E.
A1 Malone, Fergal D.
SR Print(0)
ID 1106401825
T1 Trisomy 13
T2 Fetology: Diagnosis and Management of the Fetal Patient, 2e
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 978-0-07-144201-5
LK obgyn.mhmedical.com/content.aspx?aid=1106401825
RD 2024/04/19
AB Key  PointsThird  most  common  liveborn  autosomal  aneuploidy.  Incidence  is  approximately  1  in  5000  livebirths.Sonographic  findings  include  holoprosencephaly,  abnormal  midface,  congenital  heart  defects,  polydactyly,  and  echogenic  kidneys.  First  trimester  findings  include  increased  nuchal  translucency  measurement,  fetal  tachycardia,  and  early  onset  growth  restriction.Differential  diagnosis  includes  pseudotrisomy  13,  Meckel–Gruber  syndrome,  Bardet–Biedl  syndrome,  and  Smith–Lemli–Opitz  syndrome.Associated  with  increased  lethality  in  utero,  and  increased  incidence  of  preeclampsia.80%  of  patients  have  full  trisomy  13;  20%  have  mosaicism  or  a  translocation.  If  a  translocation  is  demonstrated,  parental  chromosomes  should  be  studied.Prognosis  is  uniformly  poor.  Median  survival  time  is  7  to  10  days.  Five  to  10%  of  patients  survive  up  to  one  year  of  age.