Detalhe da pesquisa
1.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(6): 1140-1152, 2022 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35659929
2.
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results.
Prenat Diagn
; 44(4): 401-408, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38141050
3.
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study.
Prenat Diagn
; 44(3): 289-296, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38342960
4.
Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes: a nationwide retrospective cohort study of 56,110 pregnant women.
Am J Obstet Gynecol
; 2023 Dec 12.
Artigo
Inglês
| MEDLINE | ID: mdl-38097030
5.
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
Inglês
| MEDLINE | ID: mdl-31708118
6.
Chromosomal mosaicism in human blastocysts: a cytogenetic comparison of trophectoderm and inner cell mass after next-generation sequencing.
Reprod Biomed Online
; 45(5): 867-877, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35963754
7.
Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?
Acta Obstet Gynecol Scand
; 100(11): 2036-2043, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34472080
8.
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Acta Obstet Gynecol Scand
; 100(6): 1106-1115, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33249554
9.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(7): 1344, 2022 Jul 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35803237
10.
Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review.
Acta Obstet Gynecol Scand
; 99(6): 765-774, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32306377
11.
Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
Prenat Diagn
; 39(11): 1016-1025, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31321790
12.
Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results.
Genet Med
; 20(11): 1472-1476, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29493577
13.
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
Inglês
| MEDLINE | ID: mdl-29121006
14.
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Prenat Diagn
; 38(12): 911-919, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30187503
15.
The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
Hum Mutat
; 38(7): 880-888, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28409863
16.
Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.
Prenat Diagn
; 37(1): 73-80, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27931090
17.
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.
Prenat Diagn
; 36(12): 1083-1090, 2016 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-27750376
18.
Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies.
Hum Mutat
; 36(3): 319-26, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25504762
19.
The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data.
Genet Med
; 22(3): 657-658, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31690836
20.
Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast.
Prenat Diagn
; 40(10): 1338-1342, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32533714