Chapter title |
Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.
|
---|---|
Chapter number | 14 |
Book title |
Circulating Nucleic Acids in Serum and Plasma – CNAPS IX
|
Published in |
Advances in experimental medicine and biology, January 2016
|
DOI | 10.1007/978-3-319-42044-8_14 |
Pubmed ID | |
Book ISBNs |
978-3-31-942042-4, 978-3-31-942044-8
|
Authors |
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S. Chitty |
Editors |
Peter B. Gahan, Michael Fleischhacker, Bernd Schmidt |
Abstract |
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches. Validation and diagnostic implementation for NIPD of congenital adrenal hyperplasia (CAH) is further complicated by presence of a pseudogene that requires a different approach. We have used an assay targeting approximately 6700 heterozygous SNPs around the CAH gene (CYP21A2) to construct the high-risk parental haplotypes and tested this approach in five cases, showing that inheritance of the parental alleles can be correctly identified using NIPD. We are evaluating various measures of the fetal fraction to help determine inheritance of parental mutations. We are currently exploring the utility of an NIPD multi-disorder panel for autosomal recessive disease, to make testing more widely applicable to families with a variety of serious genetic conditions. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Ireland | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 42 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 8 | 19% |
Student > Ph. D. Student | 6 | 14% |
Student > Bachelor | 4 | 10% |
Other | 4 | 10% |
Lecturer | 2 | 5% |
Other | 3 | 7% |
Unknown | 15 | 36% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 11 | 26% |
Agricultural and Biological Sciences | 5 | 12% |
Biochemistry, Genetics and Molecular Biology | 5 | 12% |
Psychology | 2 | 5% |
Nursing and Health Professions | 1 | 2% |
Other | 3 | 7% |
Unknown | 15 | 36% |