Cargando…

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

Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This study shows how a patient-friendly first trimester screening for both chromosomal and struct...

Descripción completa

Detalles Bibliográficos
Autores principales:	Srebniak, Malgorzata Ilona, Knapen, Maarten F. C. M., Joosten, Marieke, Diderich, Karin E. M., Galjaard, Sander, Van Opstal, Diane
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Hypothesis
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7797124/ https://www.ncbi.nlm.nih.gov/pubmed/33422094 http://dx.doi.org/10.1186/s13039-020-00525-y

Ejemplares similares

Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT
por: Srebniak, Malgorzata I., et al.
Publicado: (2016)

Social and medical need for whole genome high resolution NIPT
por: Srebniak, Malgorzata I., et al.
Publicado: (2019)

Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?
por: Diderich, Karin, et al.
Publicado: (2019)

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review
por: Van Opstal, Diane, et al.
Publicado: (2016)

Nuchal translucency of 3.0‐3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review
por: Petersen, Olav B., et al.
Publicado: (2020)

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype
por: Van Opstal, Diane, et al.
Publicado: (2019)

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
por: Diderich, Karin E. M., et al.
Publicado: (2020)

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
por: Srebniak, Malgorzata I, et al.
Publicado: (2012)

Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast
por: Van Opstal, Diane, et al.
Publicado: (2020)

What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
por: van Zutven, Laura J. C. M., et al.
Publicado: (2023)

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing
por: Riedijk, Sam, et al.
Publicado: (2014)

Why NIPT should be publicly funded
por: Bunnik, Eline Maria, et al.
Publicado: (2020)

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences
por: van der Steen, S. L., et al.
Publicado: (2016)

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis
por: Van Opstal, Diane, et al.
Publicado: (2011)

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
por: Van Opstal, Diane, et al.
Publicado: (2018)

Why does second trimester demise of a monochorionic twin not result in acardiac twinning?
por: van Gemert, Martin J. C., et al.
Publicado: (2021)

Informed choice and routinization of the second-trimester anomaly scan: a national cohort study in the Netherlands
por: Lust, Eline E.R., et al.
Publicado: (2023)

Prenatal Diagnosis of Alobar Holoprosencephaly, Cyclopia, Proboscis, and Isochromosome 18q in the Second Trimester
por: Bangma, Meike, et al.
Publicado: (2011)

Application value of NIPT for uncommon fetal chromosomal abnormalities
por: Yin, Lianli, et al.
Publicado: (2020)

Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
por: Diderich, Karin E M, et al.
Publicado: (2023)

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?
por: Srebniak, Malgorzata I., et al.
Publicado: (2016)

How to do a second trimester anomaly scan
por: Carmen Prodan, Natalia, et al.
Publicado: (2022)

Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han’s taxonomy of uncertainty
por: Hammond, Jennifer, et al.
Publicado: (2020)

Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?
por: van der Steen, S. L., et al.
Publicado: (2017)

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect
por: Srebniak, Malgorzata I, et al.
Publicado: (2011)

Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT
por: Jeppesen, Line Dahl, et al.
Publicado: (2021)

Comparing methods for fetal fraction determination and quality control of NIPT samples
por: van Beek, Daphne M., et al.
Publicado: (2017)

Total number of reads affects the accuracy of fetal fraction estimates in NIPT
por: Miceikaitė, Ieva, et al.
Publicado: (2021)

Regulating non-invasive prenatal testing (NIPT) for fetal sex determination
por: Taylor-Sands, Michelle, et al.
Publicado: (2023)

First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies
por: Ungureanu, Delia Roxana, et al.
Publicado: (2023)

Pain and Reorganization after Amputation: Is Interoceptive Prediction a Key?
por: Weiss, Thomas, et al.
Publicado: (2022)

Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non‐invasive prenatal testing (NIPT)
por: Kater‐Kuipers, Adriana, et al.
Publicado: (2020)

Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model: “When the wine goes in, strange things come out” – S.T. Coleridge, The Piccolomini
por: Binkhorst, M., et al.
Publicado: (2011)

Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples
por: Paluoja, Priit, et al.
Publicado: (2021)

First‐trimester ultrasound detection of fetal heart anomalies: systematic review and meta‐analysis
por: Karim, J. N., et al.
Publicado: (2022)

NIPT and the concerns regarding ‘routinisation’
por: Horn, Ruth
Publicado: (2022)

Fetal Hand Abnormalities in the First-Trimester Scan: A Report of Two Cases
por: Katsanevakis, Emmanouil, et al.
Publicado: (2022)

Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals
por: Kater-Kuipers, A., et al.
Publicado: (2018)

Society of Obstetricians and Gynecologists Pakistan Guideline on Second Trimester Anomaly Scan Published in year 2022
por: Zohra, Nishat, et al.
Publicado: (2022)

More than an Incidentaloma: The Nonreportable NIPT
por: Jay, Allison M., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_279dsscpi2885d17jab8q9490b