Abstract
Key content
• In the presence of a fetal structural anomaly, fetal DNA can be obtained through invasive testing (e.g. amniocentesis and chorionic villus sampling) in order to undertake genomic testing to attempt to uncover a unifying genetic diagnosis.
• There are number of traditional and more novel genomic tests available, which can identify aneuploidy, chromosomal structural variation and/or sequence variants within genes.
• The cumulative diagnostic yield of such technologies is approximately 25%, 6% and up to 80% in some cohorts for QF-PCR/G-banding karyotype, chromosome microarray and exome sequencing, respectively.
Learning objectives
• To understand the technical basis and clinical indications for QF-PCR, G-banding karyotype, chromosome microarray and exome sequencing.
• To appreciate the potential benefits and challenges associated with exome sequencing.
• To gain awareness of modern technologies that may be utilised to address recurrence risk, e.g. preimplantation genetic diagnosis and non-invasive prenatal diagnosis.
Ethical issues
• Not all technologies are currently available across all four nations of the UK, hence challenges are raised regarding healthcare equity.
• There can be uncertainty around the interpretation of prenatal genomic test results, which can have implications in counselling, particularly regarding termination of pregnancy.
• Incidental findings may be revealed, which can have implications for counselling and the future health of the fetus and the parents.
• In the presence of a fetal structural anomaly, fetal DNA can be obtained through invasive testing (e.g. amniocentesis and chorionic villus sampling) in order to undertake genomic testing to attempt to uncover a unifying genetic diagnosis.
• There are number of traditional and more novel genomic tests available, which can identify aneuploidy, chromosomal structural variation and/or sequence variants within genes.
• The cumulative diagnostic yield of such technologies is approximately 25%, 6% and up to 80% in some cohorts for QF-PCR/G-banding karyotype, chromosome microarray and exome sequencing, respectively.
Learning objectives
• To understand the technical basis and clinical indications for QF-PCR, G-banding karyotype, chromosome microarray and exome sequencing.
• To appreciate the potential benefits and challenges associated with exome sequencing.
• To gain awareness of modern technologies that may be utilised to address recurrence risk, e.g. preimplantation genetic diagnosis and non-invasive prenatal diagnosis.
Ethical issues
• Not all technologies are currently available across all four nations of the UK, hence challenges are raised regarding healthcare equity.
• There can be uncertainty around the interpretation of prenatal genomic test results, which can have implications in counselling, particularly regarding termination of pregnancy.
• Incidental findings may be revealed, which can have implications for counselling and the future health of the fetus and the parents.
| Original language | English |
|---|---|
| Pages (from-to) | 121-130 |
| Number of pages | 10 |
| Journal | The Obstetrician and Gynaecologist |
| Volume | 25 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Apr 2023 |
Keywords
- genomic
- Prenatal
- fetus
- Fetus/abnormalities
- Sequence Analysis, DNA
- exome sequencing
- Reviews
- fetal structural anomaly
- quantitative fluorescence polymerase chain reaction
- Review
- chromosome microarray