Your browser doesn't support javascript.
loading
High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm.
Chu, Tianjiao; Yeniterzi, Suveyda; Rajkovic, Aleksandar; Hogge, W Allen; Dunkel, Mary; Shaw, Patricia; Bunce, Kimberly; Peters, David G.
Affiliation
  • Chu T; Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute, University of Pittsburgh, Pittsburgh, PA, USA; Center for Fetal Medicine, Magee-Womens Research Institute, Pittsburgh, PA, USA.
Prenat Diagn ; 34(5): 469-77, 2014 May.
Article in En | MEDLINE | ID: mdl-24452987
BACKGROUND/OBJECTIVE: The non-invasive prenatal detection of fetal microdeletions becomes increasingly challenging as the size of the mutation decreases, with current practical lower limits in the range of a few megabases. Our goals were to explore the lower limits of microdeletion size detection via non-invasive prenatal tests using Minimally Invasive Karyotyping (MINK) and introduce/evaluate a novel statistical approach we recently developed called the GC Content Random Effect Model (GCREM). METHODS: Maternal plasma was obtained from a pregnancy affected by a 4.2-Mb fetal microdeletion and three normal controls. Plasma DNA was subjected to capture an 8-Mb sequence spanning the breakpoint region and sequence. Data were analyzed with our published method, MINK, and a new method called GCREM. RESULTS: The 8-Mb capture segment was divided into either 38 or 76 non-overlapping regions of 200 and 100 Kb, respectively. At 200 Kb resolution, using GCREM (but not MINK), we obtained significant adjusted p-values for all 20 regions overlapping the deleted sequence, and non-significant p-values for all 18 reference regions. At 100 Kb resolution, GCREM identified significant adjusted p-values for all but one 100-Kb region located inside the deleted region. CONCLUSION: Targeted sequencing and GCREM analysis may enable cost effective detection of fetal microdeletions and microduplications at high resolution.
Subject(s)

Full text: 1 Database: MEDLINE Main subject: Prenatal Diagnosis / DNA / Sequence Analysis, DNA / Gene Duplication / Karyotyping / Aneuploidy Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Pregnancy Language: En Year: 2014 Type: Article

Full text: 1 Database: MEDLINE Main subject: Prenatal Diagnosis / DNA / Sequence Analysis, DNA / Gene Duplication / Karyotyping / Aneuploidy Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Pregnancy Language: En Year: 2014 Type: Article