Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

Autor: Karin Huijsdens-van Amsterdam, Dominique Smeets, Erik A. Sistermans, Diane Van Opstal, Alida C. Knegt, Merel C. van Maarle, Roy Straver, Frank Sleutels
Přispěvatelé: Clinical Genetics, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics
Rok vydání: 2018
Předmět:
Adult
0301 basic medicine
Trisomy
Biology
Genome
03 medical and health sciences
chemistry.chemical_compound
All institutes and research themes of the Radboud University Medical Center
Fetus
0302 clinical medicine
Pregnancy
Prenatal Diagnosis
noninvasive prenatal screening
medicine
Humans
Genetics(clinical)
Genetic Testing
false-positive results
FRA10B
In Situ Hybridization
Fluorescence
Genetics (clinical)
Sequence Deletion
Genetics
030219 obstetrics & reproductive medicine
Autosome
medicine.diagnostic_test
Chromosomes
Human
Pair 10
Genome
Human
Chromosome Fragile Sites
Chromosomal fragile site
Other Research Radboud Institute for Health Sciences [Radboudumc 0]
NIPS
030104 developmental biology
Prenatal screening
chemistry
Female
fragile sites
Chromosome Deletion
Bromodeoxyuridine
Fluorescence in situ hybridization
Zdroj: Genetics in Medicine, 20(11), 1472-1476. Lippincott Williams & Wilkins
Genetics in Medicine, 20(11), 1472-1476. Lippincott Williams and Wilkins
Genetics in Medicine, 20, 1472-1476
Genetics in medicine, 20(11), 1472-1476. Lippincott Williams and Wilkins
Huijsdens–van Amsterdam, K, Straver, R, van Maarle, M C, Knegt, A C, Van Opstal, D, Sleutels, F, Smeets, D & Sistermans, E A 2018, ' Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results ', Genetics in Medicine, vol. 20, no. 11, pp. 1472-1476 . https://doi.org/10.1038/gim.2018.32
Genetics in Medicine, 20, 11, pp. 1472-1476
Genetics in Medicine, 20(11), 1472. Lippincott Williams and Wilkins
ISSN: 1098-3600
DOI: 10.1038/gim.2018.32
Popis: Purpose: Using genome-wide noninvasive prenatal screening (NIPS), we detected a 20-megabase specific deletion starting at 10q25 in eight pregnancies. The deletion could not be confirmed by invasive testing. Since all 10(q25→qter) deletions started close to the FRA10B fragile site in 10q25, we investigated whether the pregnant women were indeed carriers of FRA10B. Methods: We performed NIPS analysis for all autosomes using single-read sequencing. Analysis was done with the WISECONDOR algorithm. Culture of blood lymphocytes with bromodeoxyuridine was used to detect FRA10B expansions. Fluorescence in situ hybridization and array analysis were used to find maternal and/or fetal deletions. Results: We confirmed the presence of a FRA10B expansion in all four tested mothers. Fluorescence in situ hybridization and array analysis confirmed the presence of a maternal mosaic deletion of 10(q25→qter). Conclusion: The recurring 10(q25→qter) deletion detected with NIPS is a false-positive result caused by a maternal low-level mosaic deletion associated with FRA10B expansions. This has important consequences for clinical follow-up, as invasive procedures are unnecessary. Expanded maternal FRA10B repeats should be added to the growing group of variants in the maternal genome that may cause false-positive NIPS results.
Databáze: OpenAIRE
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