D. Van Opstal

发表

Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta‐analysis

L. Arends, M. Knapen, M. Srebniak, 2017, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Social and medical need for whole genome high resolution NIPT

L. Hoefsloot, M. Knapen, L. V. van Zutven, 2019, Molecular genetics & genomic medicine.

0.5 Mb Array as a First‐Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice

R. Galjaard, M. Srebniak, D. Van Opstal, 2013, Human mutation.

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

D. Oepkes, E. Sistermans, M. Weiss, 2016, Prenatal diagnosis.

Application of fluorescent in situ hybridization for ‘de novo’ anomalies in prenatal diagnosis

D. Van Opstal, H. Eussen, J. Van Hemel, 1993, Prenatal diagnosis.

Prenatal and postnatal findings in small‐for‐gestational‐age fetuses without structural ultrasound anomalies at 18–24 weeks

D. Papatsonis, M. Knapen, F. D. de Vries, 2017, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Fluorescence in situ hybridization analysis of two blastomeres from day 3 frozen-thawed embryos followed by analysis of the remaining embryo on day 5.

B. Fauser, D. Van Opstal, E. Baart, 2004, Human reproduction.

TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.

D. Oepkes, D. Smeets, F. Jehee, 2019, American journal of human genetics.

Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue

S. Verhoef, A. V. D. van den Ouweland, D. Halley, 1998, Prenatal diagnosis.

The diagnostic performance of cytogenetic investigation in amniotic fluid cells and chorionic villi

E. M. Schoonderwaldt, D. Van Opstal, H. Brandenburg, 2001, Prenatal diagnosis.

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

A. Kremer, M. Knapen, L. V. van Zutven, 2016, Molecular Cytogenetics.

The fate of the mosaic embryo: chromosomal constitution and development of Day 4, 5 and 8 human embryos.

B. Fauser, D. Van Opstal, E. Baart, 2010, Human reproduction.

Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF.

B. Fauser, R. Galjaard, D. Van Opstal, 2006, Human reproduction.

The development of cytogenetically normal, abnormal and mosaic embryos: a theoretical model.

D. Van Opstal, F. Los, C. van den Berg, 2004, Human reproduction update.

Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases

D. Halley, W. Kleijer, D. Van Opstal, 1999, Prenatal diagnosis.

Phenotypic variability of atypical 22q11.2 deletions not including TBX1

G. Mancini, P. Willems, L. Hulsman, 2012, American journal of medical genetics. Part A.

Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature

E. M. Schoonderwaldt, D. Tibboel, B. Lee, 2007, American journal of medical genetics. Part A.

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences

M. Knapen, A. Tibben, R. Galjaard, 2016, Journal of Genetic Counseling.

Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?

L. Hoefsloot, M. Knapen, R. Galjaard, 2019, Prenatal diagnosis.

Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

D. Smeets, E. Sistermans, F. Sleutels, 2018, Genetics in Medicine.

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

D. Oepkes, E. Sistermans, M. Weiss, 2017, Genetics in Medicine.

Single-Cell Atlas of Patient-Derived Trophoblast Organoids in Ongoing Pregnancies

Jeroen A. A. Demmers, E. Bindels, B. V. van Rijn, 2022, Organoids.

The Use of Comparative Genomic Hybridization and Fluorescent in Situ Hybridization in Postmortem Pathology Investigation of Congenital Malformations

D. Tibboel, A. de Klein, R. D. de Krijger, 2010, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

The influence of SNP‐based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies

W. V. van IJcken, M. Knapen, J. Knijnenburg, 2017, Human mutation.

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

F. Jehee, E. Sistermans, B. Faas, 2022, American journal of human genetics.

Does confined placental mosaicism account for adverse perinatal outcomes in IVF pregnancies?

M. Eijkemans, J. Laven, K. Lichtenbelt, 2008, Human reproduction.

Milder ovarian stimulation for in-vitro fertilization reduces aneuploidy in the human preimplantation embryo: a randomized controlled trial.

M. Eijkemans, B. Fauser, D. Van Opstal, 2007, Human reproduction.

FULL MONOSOMY 21, PRENATALLY DIAGNOSED BY FLUORESCENT IN SITU HYBRIDIZATION

C. Vermeij-Keers, D. Van Opstal, H. Brandenburg, 1997, Prenatal diagnosis.

Nasopharyngeal teratoma and mosaic tetrasomy 1q detected at amniocentesis. A case report and review of the literature.

M. Baaij, J. Lind, G. Beverstock, 1999, Cancer genetics and cytogenetics.

Accuracy of abnormal karyotypes after the analysis of both short‐ and long‐term culture of chorionic villi

D. Van Opstal, H. Brandenburg, H. Wildschut, 2000, Prenatal diagnosis.

Increased incidence of cytogenetic abnormalities in chorionic villus samples from pregnancies established by in vitro fertilization and embryo transfer (IVF–ET)

T. Stijnen, D. Van Opstal, H. Brandenburg, 1995, Prenatal diagnosis.

Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection.

A. V. D. van den Ouweland, P. in’t Veld, S. Ramlakhan, 1997, Human reproduction.

Abnormal karyotypes in semi‐direct chorionic villus preparations of women with different cytogenetic risks

R. Galjaard, D. Van Opstal, T. Cohen-Overbeek, 1998, Prenatal diagnosis.

Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy

A. V. D. van den Ouweland, D. Halley, D. Van Opstal, 1998, Prenatal diagnosis.

A chromosome 21‐specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei

D. Van Opstal, J. Van Hemel, F. Los, 1995, Prenatal diagnosis.

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

L. Hoefsloot, J. Saris, D. Papatsonis, 2018, Prenatal diagnosis.

Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies

D. Halley, S. Ramlakhan, D. Van Opstal, 1997, Prenatal diagnosis.

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.

D. Van Opstal, M. Niermeijer, J. Van Hemel, 1995, Journal of medical genetics.

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A. V. D. van den Ouweland, D. Van Opstal, H. Brandenburg, 1995, Prenatal diagnosis.

A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.

R. Hochstenbach, A. de Klein, B. Eussen, 2007, European journal of medical genetics.

Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders – genetic counseling and pregnancy outcome in 57 cases

D. Papatsonis, M. Knapen, J. Knijnenburg, 2017, Prenatal diagnosis.

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

D. Tibboel, M. Lacher, P. Hoffmann, 2016, European Journal of Human Genetics.

Whole‐genome array as a first‐line cytogenetic test in prenatal diagnosis

M. Knapen, F. D. de Vries, R. Galjaard, 2015, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature

R. Galjaard, M. Srebniak, A. Go, 2014, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Prevalence of Tetraploid Metaphases in Semidirect and Cultured Chorionic Villi

D. Van Opstal, F. Los, C. van den Berg, 2001, Fetal Diagnosis and Therapy.

The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

E. Sistermans, M. Pertile, D. Van Opstal, 2019, Genetics in Medicine.

Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration

M. Srebniak, D. Van Opstal, 2016, Expert review of molecular diagnostics.

(Potential) false‐negative diagnoses in chorionic villi and a review of the literature

R. Galjaard, D. Van Opstal, C. van den Berg, 2006, Prenatal diagnosis.

Case of 45,X/46,XY mosaicism with non-mosaic discordance between short-term villi (45,X) and cultured villi (46,XY).

D. Van Opstal, D. Opstal, H. Brandenburg, 2000, American journal of medical genetics.

Screening for aneuploidies of ten different chromosomes in two rounds of FISH: a short and reliable protocol

D. Van Opstal, D. Opstal, E. Baart, 2004, Prenatal diagnosis.

Management of prenatally detected trisomy 8 mosaicism

D. Lindhout, M. Haelst, D. Van Opstal, 2001, Prenatal diagnosis.

Follow‐up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results

R. Galjaard, D. Van Opstal, F. Los, 2001, Prenatal diagnosis.

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing

M. Knapen, A. Tibben, F. D. de Vries, 2014, Journal of clinical medicine.

Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient

D. Tibboel, M. Lequin, A. de Klein, 2010, PloS one.

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

M. Knapen, F. D. de Vries, R. Galjaard, 2016, PloS one.

Retrospective study of trisomy 18 in chorionic villi with fluorescent in situ hybridization on archival direct preparations

D. Van Opstal, H. Brandenburg, F. Los, 1995, Prenatal diagnosis.

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

R. Galjaard, M. Srebniak, D. Van Opstal, 2011, Molecular Cytogenetics.

Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

M. Knapen, R. Galjaard, M. Srebniak, 2016, Molecular Cytogenetics.

False positive FISH diagnosis of monosomy X in uncultured amniotic fluid cells due to a chromosome Y deletion

D. Papatsonis, R. Galjaard, D. Van Opstal, 2008, Prenatal diagnosis.

Ring chromosome 18 in a fetus with only facial anomalies.

J. Kros, D. Van Opstal, D. Opstal, 1996, American journal of medical genetics.

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

R. Galjaard, M. Srebniak, D. Van Opstal, 2011, Molecular Cytogenetics.

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

M. Knapen, R. Galjaard, M. Srebniak, 2012, Molecular Cytogenetics.

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): A patient report and review

D. Tibboel, L. V. van Zutven, D. Van Opstal, 2009, American journal of medical genetics. Part A.

Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?

F. Jehee, E. Sistermans, M. Srebniak, 2021, Acta obstetricia et gynecologica Scandinavica.

Is carriership of a balanced translocation or inversion an indication for non-invasive prenatal testing?

I. Vogel, M. Srebniak, D. Van Opstal, 2018, Expert review of molecular diagnostics.

An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)—difficulties in interpretation

D. Halley, R. Galjaard, M. Srebniak, 2008, Prenatal diagnosis.

Abnormal non‐invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype

F. D. de Vries, M. Srebniak, D. Van Opstal, 2014, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review

L. Arends, M. Knapen, I. Vogel, 2020, Acta obstetricia et gynecologica Scandinavica.

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

L. Hoefsloot, D. Papatsonis, M. Srebniak, 2019, Prenatal diagnosis.

Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast

L. Hoefsloot, F. Jehee, M. Knapen, 2020, Prenatal diagnosis.

Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan

M. Knapen, M. Srebniak, M. Joosten, 2021, Molecular cytogenetics.

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

L. Hoefsloot, G. Mancini, M. Wilke, 2020, Acta obstetricia et gynecologica Scandinavica.

Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?

F. D. de Vries, R. Galjaard, M. Srebniak, 2015, Genetics in Medicine.

Another Rare Prenatal Case of Post‐Zygotic Mosaic Trisomy 17

M. Knapen, J. Knijnenburg, F. D. de Vries, 2013, American journal of medical genetics. Part A.

Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?

M. Knapen, A. Tibben, R. Galjaard, 2017, Journal of Genetic Counseling.

SNP array detects chromosome aberrations that we thought do not exist: the first case of an isochromosome Xp (i(X)(p10))

M. Srebniak, D. Van Opstal, F. Vries, 2014, Prenatal diagnosis.

Clinical experience of unexpected findings in prenatal array testing.

F. D. de Vries, R. Galjaard, M. Srebniak, 2016, Biomarkers in medicine.

Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

D. Smeets, E. Sistermans, F. Sleutels, 2018, Genetics in Medicine.

Chromosomal mosaicism in human blastocysts: a cytogenetic comparison of trophectoderm and inner cell mass after next-generation sequencing.

L. Hoefsloot, Myrthe van den Born, R. van Marion, 2022, Reproductive Biomedicine Online.

Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing

M. Knapen, A. Tibben, R. Galjaard, 2015, Clinical genetics.

Accuracy of abnormal karyotypes after the analysis of both short‐ and long‐term culture of chorionic villi

D. Van Opstal, H. Brandenburg, H. Wildschut, 2000, Prenatal Diagnosis.

Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue

S. Verhoef, A. V. D. van den Ouweland, D. Halley, 1998, Prenatal diagnosis.

False‐negative findings in chorionic villi

D. Van Opstal, F. Los, 1999, Prenatal Diagnosis.

The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.

L. Hoefsloot, Myrthe van den Born, K. Stuurman, 2023, European journal of medical genetics.

Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature

R. Galjaard, M. Srebniak, A. Go, 2014, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.