Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
Abnormal Karyotype
Adolescent
Adult
Aneuploidy
Chromosome Disorders
/ diagnostic imaging
Congenital Abnormalities
/ diagnostic imaging
DiGeorge Syndrome
/ diagnostic imaging
Down Syndrome
/ diagnostic imaging
Ectodermal Dysplasia
/ diagnostic imaging
Facies
Failure to Thrive
/ diagnostic imaging
Female
Heart Defects, Congenital
/ diagnostic imaging
Humans
LEOPARD Syndrome
/ diagnostic imaging
Middle Aged
Netherlands
Noninvasive Prenatal Testing
Noonan Syndrome
/ diagnostic imaging
Nuchal Translucency Measurement
Pregnancy
Pregnancy Trimester, First
Trisomy 13 Syndrome
/ diagnostic imaging
Trisomy 18 Syndrome
/ diagnostic imaging
Ultrasonography, Prenatal
Young Adult
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
01 2020
01 2020
Historique:
received:
09
05
2019
revised:
05
08
2019
accepted:
30
09
2019
pubmed:
8
11
2019
medline:
9
2
2021
entrez:
8
11
2019
Statut:
ppublish
Résumé
To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities. This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected. In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95 Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement.
Identifiants
pubmed: 31697852
doi: 10.1002/pd.5590
pmc: PMC7027496
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
197-205Informations de copyright
© 2019 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
Références
BMJ. 1992 Apr 4;304(6831):867-9
pubmed: 1392745
Prenat Diagn. 2016 Mar;36(3):232-6
pubmed: 26749576
Ultrasound Obstet Gynecol. 2015 Dec;46(6):650-8
pubmed: 25900824
Prenat Diagn. 2011 Jan;31(1):90-102
pubmed: 21210483
Mol Cytogenet. 2016 Sep 07;9(1):69
pubmed: 27610202
Ultrasound Obstet Gynecol. 2017 Oct;50(4):429-441
pubmed: 27546497
Am J Obstet Gynecol. 2014 Dec;211(6):675.e1-19
pubmed: 24949541
J Med Genet. 2019 Oct;56(10):654-661
pubmed: 31040167
Ultrasound Obstet Gynecol. 2017 Sep;50(3):332-335
pubmed: 28133835
Am J Obstet Gynecol. 2019 Jun;220(6):537-542
pubmed: 30639383
Obstet Gynecol. 2006 Jan;107(1):6-10
pubmed: 16394033
Ultrasound Obstet Gynecol. 2013 May;41(5):500-7
pubmed: 23401365
Lancet. 1998 Aug 1;352(9125):343-6
pubmed: 9717920
Prenat Diagn. 2015 Jul;35(7):663-8
pubmed: 25754604
Prenat Diagn. 2012 Oct;32(10):986-95
pubmed: 22847778
Ultraschall Med. 2010 Apr;31(2):144-50
pubmed: 20094976
Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11
pubmed: 21310373
Ultrasound Obstet Gynecol. 2016 Jan;47(1):45-52
pubmed: 26498918
Ultrasound Obstet Gynecol. 2016 Oct;48(4):415-423
pubmed: 27240559
Ultrasound Obstet Gynecol. 2018 Apr;51(4):470-479
pubmed: 28640470
Ultrasound Obstet Gynecol. 2007 Jul;30(1):11-8
pubmed: 17559183
Am J Obstet Gynecol. 2005 Apr;192(4):1005-21
pubmed: 15846173
Prenat Diagn. 2020 Jan;40(2):197-205
pubmed: 31697852
Ultrasound Obstet Gynecol. 2013 Jun;41(6):610-20
pubmed: 23512800
Ultrasound Obstet Gynecol. 2014 Jun;43(6):620-4
pubmed: 24719361
Genet Med. 2011 Nov;13(11):913-20
pubmed: 22005709
J Genet Couns. 2017 Dec;26(6):1348-1356
pubmed: 28667567
Ultrasound Obstet Gynecol. 1998 Jun;11(6):391-400
pubmed: 9674084
Genet Med. 2012 Mar;14(3):296-305
pubmed: 22281937
Ultrasound Obstet Gynecol. 2018 Apr;51(4):429-433
pubmed: 29363829
Ultrasound Obstet Gynecol. 2013 Jul;42(1):34-40
pubmed: 23744609
Prenat Diagn. 2017 Oct;37(10):1017-1027
pubmed: 28801976
Prenat Diagn. 2012 Nov;32(11):1114-6
pubmed: 22903289
Ultrasound Obstet Gynecol. 2012 Feb;39(2):157-63
pubmed: 21845742
BMJ. 2016 Jul 04;354:i3426
pubmed: 27378786
Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8
pubmed: 22742782
Ultrasound Obstet Gynecol. 2018 Apr;51(4):463-469
pubmed: 28397377
Ultrasound Obstet Gynecol. 2008 Apr;31(4):376-83
pubmed: 18383462
Prenat Diagn. 2008 Apr;28(4):347-54
pubmed: 18382996