Rare autosomal trisomies: comparison of detection through cell-free DNA analysis and direct chromosome preparation of chorionic villus samples.

Benn, P; Malvestiti, F; Grimi, B; Maggi, F; Simoni, G; Grati, F R

Benn, P; Malvestiti, F; Grimi, B; Maggi, F; Simoni, G; Grati, F R.

Affiliation

Benn P; Department of Genetics and Genome Sciences, University of Connecticut Health Center, Farmington, CT, USA.
Malvestiti F; Unit of Research and Development, Cytogenetics and Medical Genetics, TOMA, Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy.
Grimi B; Unit of Research and Development, Cytogenetics and Medical Genetics, TOMA, Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy.
Maggi F; Unit of Research and Development, Cytogenetics and Medical Genetics, TOMA, Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy.
Simoni G; Unit of Research and Development, Cytogenetics and Medical Genetics, TOMA, Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy.
Grati FR; Unit of Research and Development, Cytogenetics and Medical Genetics, TOMA, Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy.

Ultrasound Obstet Gynecol ; 54(4): 458-467, 2019 Oct.

Article in En | MEDLINE | ID: mdl-31237735

Subject(s)

Cell-Free Nucleic Acids/genetics; Chorionic Villi Sampling/methods; Pregnancy Outcome/genetics; Trisomy/genetics; Uniparental Disomy/genetics; Adult; Amniocentesis/methods; Amniotic Fluid/cytology; Amniotic Fluid/metabolism; Chorionic Villi/metabolism; Chromosome Disorders/genetics; Embryo Loss/etiology; Female; Fetal Growth Retardation/epidemiology; Genome-Wide Association Study/instrumentation; Humans; Mosaicism; Placenta/pathology; Pregnancy; Pregnancy Outcome/epidemiology; Trophoblasts/pathology

Key words

cfDNA; chorionic villi; confined placental mosaicism; cytogenetic abnormalities; cytotrophoblasts; intrauterine growth restriction; miscarriage; non-invasive prenatal testing; trisomy; uniparental disomy

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Trisomy / Pregnancy Outcome / Chorionic Villi Sampling / Uniparental Disomy / Cell-Free Nucleic Acids Type of study: Diagnostic_studies / Etiology_studies Limits: Adult / Female / Humans / Pregnancy Language: En Journal: Ultrasound Obstet Gynecol Journal subject: DIAGNOSTICO POR IMAGEM / GINECOLOGIA / OBSTETRICIA Year: 2019 Type: Article Affiliation country: United States

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