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List of works by Brigitte H. W. Faas

2010 Report from the ISPD Special Interest Groups ⬇️

scientific article published on 04 January 2011

All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience

scientific article published in 2023

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

scientific article published on 04 November 2019

Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies ⬇️

scientific article published on June 1, 2013

Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis

scientific article published on 16 January 2014

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination

scientific article published on 14 October 2015

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

scientific article published in June 2008

Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations

scientific article

Comment on 'confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization'

scientific article published on 01 August 2014

Current controversies in prenatal diagnosis 1: NIPT for chromosome abnormalities should be offered to women with low a priori risk

scientific article published in January 2015

Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA

scientific article published on 06 February 2014

Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification

scientific article published on 12 December 2008

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities

scientific article published on 19 July 2008

Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects

scientific article published on January 2007

Further refinement of the candidate region for monosomy 9p syndrome

scientific article published on 01 October 2007

Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories

scientific article

In case you missed it: thePrenatal Diagnosiseditors bring you the most significant advances of 2014

scientific article published on 01 January 2015

In case you missed it: thePrenatal Diagnosiseditors bring you the most significant advances of 2015

scientific article published on 01 January 2016

In case you missed it: thePrenatal Diagnosissection editors bring you the most significant advances of 2013

scientific article published on 01 January 2014

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral? ⬇️

scientific article published on January 27, 2012

Maternal Malignancies Detected With Noninvasive Prenatal Testing

scientific article published on 01 November 2015

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells

scientific article published on 01 November 2008

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

article

Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience

scientific article published on 01 April 2012

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

scientific article published on 2 October 2017

Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis ⬇️

scientific article published on May 21, 2013

Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis.

scientific article published on 4 June 2015

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

scientific article published on 16 January 2013

Prenatal genetic care: debates and considerations of the past, present and future

scientific article published on 10 May 2015

Rapid methods for targeted prenatal diagnosis of common chromosome aneuploidies ⬇️

scientific article published on April 1, 2011

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

scientific article published on 25 April 2020

Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture

scientific article published on 8 August 2013

Response to "On gestational weeks and maths".

scientific article published in December 2013

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

scientific article published on 01 June 2012

Summary of the ISPD Preconference Day, June 3, 2012, Miami Beach ⬇️

scientific article published on November 7, 2012

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

scientific article published on 07 November 2019

The 2013 Malcolm Ferguson-Smith Young Investigator Award

scientific article published in August 2014

The 2014 Malcolm Ferguson-Smith Young Investigator Award.

scientific article published in June 2015

The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis.

scientific article

The effect of a decision aid on informed decision-making in the era of non-invasive prenatal testing: a randomised controlled trial

scientific article published on 18 May 2016

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

scientific article published on 17 October 2016

Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives

scientific article published on 14 October 2016

Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations

scientific article published on 15 January 2016

Women's Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results.

scientific article published on 30 June 2017

Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment

scientific article

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