scholarly journals Chorionic villus sampling in the cell-free DNA aneuploidy screening era: careful selection criteria can maximise the clinical utility of screening and invasive testing

2017 ◽  
Vol 37 (4) ◽  
pp. 399-408 ◽  
Author(s):  
Stefan C. Kane ◽  
Karen L. Reidy ◽  
Fiona Norris ◽  
Deborah L. Nisbet ◽  
Louise H. Kornman ◽  
...  
Keyword(s):  
Selection Criteria ◽  
Clinical Utility ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Careful Selection ◽  
Aneuploidy Screening ◽  
Cell Free Dna ◽  
Dna Aneuploidy ◽  
Free Dna

Prenatal Screening and Diagnosis

2018 ◽  
Author(s):  
Barbara O’Brien ◽  
Emily Willner
Keyword(s):  
Diagnostic Testing ◽  
Chorionic Villus ◽  
Clinical History ◽  
Maternal Serum ◽  
Specific Gene ◽  
Chorionic Villus Sampling ◽  
Genetic Syndromes ◽  
Cell Free Dna ◽  
Free Dna ◽  
Ultrasound Evaluation

Prenatal genetic testing offers patients and providers the opportunity to screen for aneuploidy, genetic syndromes, and congenital malformations during pregnancy. Screening options include taking a clinical history, evaluation of maternal serum markers or noninvasive cell-free DNA, and ultrasound evaluation during the first and second trimesters. Invasive diagnostic testing such as amniocentesis or chorionic villus sampling allows for further investigation of positive screening results and a directed test to identify aneuploidy as well as specific gene mutations and gain, loss, or rearrangement of genetic information. Laboratory methods for testing fetal samples differ by types of genetic abnormalities that can be detected and turnaround time for results; these methods include karyotype, fluorescence in situ hybridization, and microarray.   This review contains 5 figures, 5 tables and 43 references Key words: amniocentesis, aneuploidy, cell-free DNA, chorionic villus sampling, karyotype, microarray, prenatal genetic screening, ultrasonography  

scholarly journals Circulating cell-free DNA levels increase variably following chorionic villus sampling

2010 ◽  
Vol 30 (4) ◽  
pp. 325-328 ◽  
Author(s):  
Neeta L. Vora ◽  
Kirby L. Johnson ◽  
Inga Peter ◽  
Hocine Tighiouart ◽  
Steven J. Ralston ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Cell Free Dna ◽  
Free Dna ◽  
Circulating Cell Free Dna

Prenatal Screening and Diagnosis

2018 ◽  
Author(s):  
Barbara O’Brien ◽  
Emily Willner
Keyword(s):  
Diagnostic Testing ◽  
Chorionic Villus ◽  
Clinical History ◽  
Maternal Serum ◽  
Specific Gene ◽  
Chorionic Villus Sampling ◽  
Genetic Syndromes ◽  
Cell Free Dna ◽  
Free Dna ◽  
Ultrasound Evaluation

Prenatal genetic testing offers patients and providers the opportunity to screen for aneuploidy, genetic syndromes, and congenital malformations during pregnancy. Screening options include taking a clinical history, evaluation of maternal serum markers or noninvasive cell-free DNA, and ultrasound evaluation during the first and second trimesters. Invasive diagnostic testing such as amniocentesis or chorionic villus sampling allows for further investigation of positive screening results and a directed test to identify aneuploidy as well as specific gene mutations and gain, loss, or rearrangement of genetic information. Laboratory methods for testing fetal samples differ by types of genetic abnormalities that can be detected and turnaround time for results; these methods include karyotype, fluorescence in situ hybridization, and microarray.   This review contains 5 figures, 5 tables and 43 references Key words: amniocentesis, aneuploidy, cell-free DNA, chorionic villus sampling, karyotype, microarray, prenatal genetic screening, ultrasonography  

Prenatal Screening and Diagnosis

2018 ◽  
Author(s):  
Barbara O’Brien ◽  
Emily Willner
Keyword(s):  
Diagnostic Testing ◽  
Chorionic Villus ◽  
Clinical History ◽  
Maternal Serum ◽  
Specific Gene ◽  
Chorionic Villus Sampling ◽  
Genetic Syndromes ◽  
Cell Free Dna ◽  
Free Dna ◽  
Ultrasound Evaluation

Prenatal genetic testing offers patients and providers the opportunity to screen for aneuploidy, genetic syndromes, and congenital malformations during pregnancy. Screening options include taking a clinical history, evaluation of maternal serum markers or noninvasive cell-free DNA, and ultrasound evaluation during the first and second trimesters. Invasive diagnostic testing such as amniocentesis or chorionic villus sampling allows for further investigation of positive screening results and a directed test to identify aneuploidy as well as specific gene mutations and gain, loss, or rearrangement of genetic information. Laboratory methods for testing fetal samples differ by types of genetic abnormalities that can be detected and turnaround time for results; these methods include karyotype, fluorescence in situ hybridization, and microarray.   This review contains 5 figures, 5 tables and 43 references Key words: amniocentesis, aneuploidy, cell-free DNA, chorionic villus sampling, karyotype, microarray, prenatal genetic screening, ultrasonography  

Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA

2017 ◽  
Vol 37 (3) ◽  
pp. 296-298 ◽  
Author(s):  
Kristen Uquillas ◽  
Yen Chan ◽  
Jennifer R. King ◽  
Linda M. Randolph ◽  
Marc Incerpi
Keyword(s):  
Trisomy 21 ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Cell Free Dna ◽  
Free Dna ◽  
Mosaic Trisomy

scholarly journals A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Robert Wallerstein ◽  
Andrea Jelks ◽  
Matthew J. Garabedian
Keyword(s):  
Risk Assessment ◽  
Genetic Counseling ◽  
Patient Education ◽  
Chorionic Villus ◽  
First Trimester ◽  
Chorionic Villus Sampling ◽  
Cell Free Dna ◽  
Free Dna ◽  
Integrated Screening ◽  
Cfdna Screening

Objective. Cell-free DNA (cfDNA) offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management.Study Design. Beginning in January 2013, we initiated a new patient care model in which high-risk patients for aneuploidy received genetic counseling at 12 weeks of gestation. Patients were presented with four pathways for aneuploidy risk assessment and diagnosis: (1) cfDNA; (2) integrated screening; (3) direct-to-invasive testing (chorionic villus sampling or amniocentesis); or (4) no first trimester diagnostic testing/screening. Patients underwent follow-up genetic counseling and detailed ultrasound at 18–20 weeks to review first trimester testing and finalize decision for amniocentesis.Results. Counseling and second trimester detailed ultrasound were provided to 163 women. Most selected cfDNA screening (69%) over integrated screening (0.6%), direct-to-invasive testing (14.1%), or no screening (16.6%). Amniocentesis rates decreased following implementation of cfDNA screening (19.0% versus 13.0%,P<0.05).Conclusion. When counseled about screening options, women often chose cfDNA over integrated screening. This program is a model for patient-directed, efficient delivery of a newly available high-level technology in a public health setting. Genetic counseling is an integral part of patient education and determination of plan of care.

scholarly journals Advanced ovarian cancer treated in pregnancy and detected by cell-free DNA aneuploidy screening

2018 ◽  
Vol 24 ◽  
pp. 48-50
Author(s):  
Christina N. Cordeiro Mitchell ◽  
Tricia Murdock ◽  
Amanda N. Fader ◽  
Rebecca L. Stone
Keyword(s):  
Ovarian Cancer ◽  
Advanced Ovarian Cancer ◽  
Aneuploidy Screening ◽  
Cell Free Dna ◽  
Dna Aneuploidy ◽  
Free Dna ◽  
In Pregnancy
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