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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Holland, O; Kroneis, T; El-Heliebi, A; McDowell-Hook, M; Stone, P; Sedlmayr, P; Chamley, L.
Detection of Fetal Sex, Aneuploidy and a Microdeletion from Single Placental Syncytial Nuclear Aggregates.
Fetal Diagn Ther. 2017; 41(1):32-40
Doi: 10.1159/000445112
Web of Science
PubMed
FullText
FullText_MUG
- Leading authors Med Uni Graz
- Kroneis Thomas
- Co-authors Med Uni Graz
- El-Heliebi Amin
- Sedlmayr Peter
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- Abstract:
- A key problem in prenatal screening using extra-embryonic cells is the feasibility of extracting usable DNA from a small number of cells. Syncytial nuclear aggregates (SNAs) are multinucleated structures shed from the placenta. This study assesses the potential of SNAs as a source of fetal DNA for the detection of genetic abnormalities. SNAs were collected in vitro. Whole-genome amplification was used to amplify DNA from single SNAs, and DNA quality and quantity was assessed by spectrophotometry and PCR. Confocal microscopy was used to count nuclei within SNAs, determine metabolic activity and investigate DNA damage. Fetal sex and chromosomal/genetic abnormalities were investigated with array-comparative genomic hybridization (aCGH). DNA was amplified from 81% of the individual SNAs. A mean of 61 ± 43 nuclei were found per SNA. DNA strand breaks were found in 76% of the SNAs. Seventy-five percent of SNAs yielded whole-genome-amplified DNA of sufficient quality for aCGH after storage and shipping. Individual SNAs from the same pregnancy reliably gave the same chromosomal profile, and fetal sex and trisomies could be detected. A microdeletion was detected in one pregnancy. SNAs could provide a source of extra-embryonic DNA for the prenatal screening/diagnosis of fetal sex and chromosomal and sub-chromosomal genetic abnormalities. © 2016 S. Karger AG, Basel.
- Find related publications in this database (using NLM MeSH Indexing)
- Aneuploidy -
- Chromosome Aberrations -
- Chromosome Disorders - diagnosis
- Comparative Genomic Hybridization -
- DNA - chemistry
- Female -
- Humans -
- In Situ Nick-End Labeling -
- Placenta - cytology
- Pregnancy -
- Prenatal Diagnosis - methods
- Sex Determination Analysis -
- Find related publications in this database (Keywords)
- Array-comparative genomic hybridization
- Whole-genome amplification
- Syncytial nuclear aggregates
- Non-invasive prenatal screening/diagnosis