Table 1.
Study characteristics (n = 33).
| Studies Included | Count | % |
|---|---|---|
| 2020 | 8 | 24.2 |
| 2019 | 3 | 9.0 |
| 2018 | 7 | 21.2 |
| 2017 | 3 | 9.0 |
| 2016 | 12 | 36.4 |
| Characteristic | Count | |
| Country of Data Collection | ||
| USA | 18 | 54.5 |
| Europe | 6 | 18.2 |
| Australia | 5 | 15.2 |
| Canada | 3 | 9.1 |
| New Zealand | 1 | 3.0 |
| Population (Respondent Type) a | ||
| Parent/Caregiver of minor patient | 27 | 73.0 |
| Prospective Parent | 6 | 16.2 |
| Caregiver of adult patient | 3 | 8.1 |
| Adult sibling caregiver of minor patient | 1 | 2.7 |
| ICD-11 Disease Category a | ||
| Developmental anomalies | 20 | 60.6 |
| Mental, behavioural or neurodevelopmental disorders | 13 | 39.4 |
| Diseases of the nervous system | 7 | 21.2 |
| Prenatal or pre-implementation genetic testing b | 9 | 27.3 |
| Neoplasms | 2 | 6.1 |
| Diseases of the blood or blood-forming organs | 2 | 6.1 |
| Diseases of the respiratory system | 2 | 6.1 |
| Other c | 5 | 15.2 |
| Unreported | 9 | 27.3 |
| Genetic Test Type a | ||
| Karyotype, FISH, Fragile X, Single gene test | 12 | 36.4 |
| Chromosomal microarray | 16 | 48.5 |
| Multi-gene panel | 6 | 18.2 |
| Whole exome sequencing | 14 | 42.4 |
| Whole genome sequencing | 4 | 12.1 |
| Prenatal d | 4 | 12.1 |
| Newborn screening | 2 | 6.1 |
| Other e | 2 | 6.1 |
| Unreported | 1 | 3.0 |
| Study Type and Quality Scores | ||
| Qualitative | 20 | 60.6 |
| Average quality score (Range) | - | 81.0 (65.0–95.0) |
| Quantitative | 9 | 27.3 |
| Average quality score (Range) | - | 82.9 (64.0–95.5) |
| Mixed methods | 4 | 12.1 |
| Average quality score (Range) | - | 80.8 (75.0–92.3) |
| Total Primary Sample Size | 3606 | |
| Total Secondary Sample Size | 93 |
a Multiple characteristics may apply to a single paper; b the ICD-11 classification “Pregnancy, childbirth or the puerperium” was relabeled to “Prenatal or pre-implementation genetic testing” for the purpose of this review to more accurately describe the studies in this category; c other disease category = Endocrine, nutritional or metabolic diseases, diseases of the circulatory system, diseases of the visual system, visibly healthy, recessive and X-linked conditions in offspring; d prenatal genetic test type = Non-invasive prenatal testing (NIPT), pre-implantation genetic screening; e other genetic test type = Tumour sequencing or commercial publicly available. Abbreviations: FISH = fluorescence in situ hybridization.