Related Papers
Acta Obstetricia et Gynecologica Scandinavica
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
2020 •
Yolande Van Bever
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Whole genome array as a first-line cytogenetic test in prenatal diagnosis
2014 •
Diane Van Opstal
Since the seventies genome wide cytogenetic testing by using karyotyping has been a basic genetic examination. Recently a higher resolution DNA microarray technology was developed. Based on a literature review we give an overview of the current status and the advantages of the use of whole genome array diagnostics for routine prenatal cytogenetic diagnosis. Array testing is now commonly used for cytogenetic prenatal diagnosis in cases of ultrasound anomalies, but is not routinely implemented for all indications due to the absence of an internationally accepted policy how to deal with problematic copy number variants (CNVs) such as variants of unknown clinical significance (VOUS), susceptibility loci for neurodevelopmental disorders (SL) and unexpected diagnoses. There is also no consensus about offering patients choices on predefined outcome categories during pre-test counseling. If the patient wishes genome wide testing and is willing to take the risk of an invasive procedure, whol...
Clinical Genetics
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies
2021 •
Karin Diderich
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after a fetal abnormality is detected through ultrasound. It is important to know how to handle uncertainty in this particularly stressful period. This systematic review aimed to provide a comprehensive overview of guidelines available for addressing uncertainty related to prenatal chromosomal microarray (CMA) and ES. Ten uncertainty types associated with prenatal ES and CMA were identified and defined by an international multidisciplinary team. Medline (all) and Embase were systematically searched. Laboratory scientists, clinical geneticists, psychologists, and a fetal medicine specialist screened the papers and performed the data extraction. Nineteen papers were included. Recommendations generally emphasized the importance of trio analysis, clinical information, data sharing, validation and re‐analysis, prot...
Obstetrics & Gynecology
Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis
2020 •
Ayala Frumkin
Prenatal Diagnosis
Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study
2020 •
Yves Sznajer
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
The impact of late amniocentesis in the modern genomic technologies era
2018 •
N. Yanai
The traditional timing for amniocentesis is between 17-23 weeks of pregnancy. This timing enables pregnancy associated decisions to be made before viability. Less frequently, third trimester amniocentesis is performed. Advanced genomic technologies such as chromosomal microarray analysis (CMA) introduce far more detailed information about the fetus compared to traditional G-banded chromosomal analysis. Not much is known about the indications, safety and CMA yield for late amniocentesis. To assess the indications for late amniocentesis, safety, genetic test results (especially in the context of CMA technology) and pregnancy outcomes. We retrospectively analyzed medical records of all women that performed amniocentesis at gestational age of 24 to 38 weeks, between June 2013 and March 2017. Parameters investigated included indications for late amniocentesis, complications, CMA results and pregnancy outcomes. 291 women (303 fetuses, 277 singleton pregnancies, 10 twin pregnancies) underw...
Genes
Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience
Oana Caluseriu
The introduction of next generation sequencing (NGS) technologies has revolutionized the practice of Medical Genetics, and despite initial reticence in its application to prenatal genetics (PG), it is becoming gradually routine, subject to availability. Guidance for the clinical implementation of NGS in PG, in particular whole exome sequencing (ES), has been provided by several professional societies with multiple clinical studies quoting a wide range of testing yields. ES was introduced in our tertiary care center in 2017; however, its use in relation to prenatally assessed cases has been limited to the postnatal period. In this study, we review our approach to prenatal testing including the use of microarray (CMA), and NGS technology (gene panels, ES) over a period of three years. The overall diagnostic yield was 30.4%, with 43.2% of those diagnoses being obtained through CMA, and the majority by using NGS technology (42% through gene panels and 16.6% by ES testing, respectively)....
PLOS ONE
Assessing women’s preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice experiment, using a mixed-methods design
2022 •
Ida Vogel
Prenatal DNA tests, such as chromosomal microarray analysis or exome sequencing, increase the likelihood of receiving a diagnosis when fetal structural anomalies are identified. However, some parents will receive uncertain results such as variants of uncertain significance and secondary findings. We aimed to develop a set of attributes and associated levels for a discrete-choice experiment (DCE) that will examine parents’ preferences for tests that may reveal uncertain test results. A two phase mixed-methods approach was used to develop attributes for the DCE. In Phase 1, a “long list” of candidate attributes were identified via two approaches: 1) a systematic review of the literature around parental experiences of uncertainty following prenatal testing; 2) 16 semi-structured interviews with parents who had experienced uncertainty during pregnancy and 25 health professionals who return uncertain prenatal results. In Phase 2, a quantitative scoring exercise with parents prioritised t...
Human Mutation
Benefits and Burdens of Using a SNP Array in Pregnancies at Increased Risk for the Common Aneuploidies
2014 •
Karin Diderich, Diane Van Opstal
Genetics in Medicine
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
2020 •
lukas rammeloo
