Detalhe da pesquisa
1.
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
Am J Hum Genet
; 105(6): 1091-1101, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708118
2.
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.
Prenat Diagn
; 41(10): 1351-1359, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176145
3.
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Genet Med
; 20(5): 480-485, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29121006
4.
Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere.
Mol Cytogenet
; 16(1): 34, 2023 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38031124
5.
Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience.
Prenat Diagn
; 32(4): 362-70, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22467167
6.
Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.
J Mol Diagn
; 11(1): 17-24, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19074591
7.
Comment on 'confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization'.
Prenat Diagn
; 34(8): 815-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087737
8.
Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study.
BMC Pregnancy Childbirth
; 8: 18, 2008 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-18492228
9.
Considering factors affecting the parental decision to abort after a prenatal diagnosis of a sex chromosome abnormality.
Genet Med
; 14(5): 558-9; author reply 559, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22555768
10.
Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.
Clin Chim Acta
; 371(1-2): 176-82, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16674934
11.
Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy.
Obstet Gynecol Int
; 2013: 636459, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23737796
12.
Why do parents prefer to know the fetal sex as part of invasive prenatal testing?
ISRN Obstet Gynecol
; 2012: 524537, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23304540
13.
Parent's attitudes towards full-scale prenatal testing for genetic disorders.
J Psychosom Obstet Gynaecol
; 30(1): 42-7, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19308782
14.
Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells.
Prenat Diagn
; 28(11): 1004-10, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18925610
15.
Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects.
Prenat Diagn
; 27(1): 29-33, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17154227