Rare autosomal trisomies: comparison of detection through cell‐free DNA analysis and direct chromosome preparation of chorionic villus samples
Author:
Affiliation:
1. Department of Genetics and Genome SciencesUniversity of Connecticut Health Center Farmington CT USA
2. Unit of Research and Development, Cytogenetics and Medical Genetics, TOMA, Advanced Biomedical Assays S.p.A. Busto Arsizio, Varese Italy
Publisher
Wiley
Subject
Obstetrics and Gynaecology,Radiology Nuclear Medicine and imaging,Reproductive Medicine,General Medicine,Radiological and Ultrasound Technology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/uog.20383
Reference52 articles.
1. Trophoblastic Oxidative Stress and the Release of Cell-Free Feto-Placental DNA
2. Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case report
3. 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
4. Validation of an Enhanced Version of a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Detection of Fetal Aneuploidies
5. Clinical performance of non‐invasive prenatal testing (NIPT) using targeted cell‐free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies
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