Table 3.
Descriptive Statistics of Genetic Diagnosis Identified Across Relevant Variables.
| Genetic Diagnosis Identified | |||
|---|---|---|---|
| Variable | No | Yes | X2/Exact or Kruskal-Wallis Test p-Value |
| Sex | |||
| Female | 321/443 (72.5% | 122/442 (27.5%) | p = 0.0235 |
| Male | 448/570 (78.6%) | 122/570 (21.4%) | |
| Age at Consultation (Days) | Mean = 17.0 (SD = 43.5) Median = 3.0 (IQR: [1.0, 10.0]) |
Mean = 21.6 (SD = 56.6) Median = 2.0 (IQR: [1.0, 10.0]) |
p = 0.0586 |
| Age Group | |||
| Neonate (0–28 days) | 671/880 (76.3%) | 209/880 (23.8%) | p = 0.5190 |
| Infant (29 days-1 year) | 98/133 (73.7%) | 35/133 (26.3%) | |
|
Race/Ethnicity Group
(Self-Reported) | |||
| Asian/Pacific Island | 19/25 (76.0%) | 6/25 (24.0%) | p = 0.8930 |
| Black/African American | 97/126 (77.0%) | 29/126 (23.0%) | |
| Hispanic/Latino | 84/110 (76.4%) | 26/110 (23.6%) | |
| Other | 2/3 (66.7%) | 1/3 (33.3%) | |
| White | 532/707 (75.3%) | 175/707 (24.8%) | |
| Unknown/Declined | 35/42 (83.3%) | 7/42 (16.7%) | |
| CHD Class | |||
| APVR | 24/28 (85.7%) | 4/28 (14.3%) | p < 0.0001 * |
| AVSD | 17/37 (45.9%) | 20/37 (54.1%) | |
| Complex | 99/132 (75.0%) | 33/132 (25.0%) | |
| Conotruncal | 186/249 (74.7%) | 63/249 (25.3%) | |
| Heterotaxy/Laterality Spectrum | 64/73 (87.7%) | 9/73 (12.3%) | |
| LVOTO | 212/260 (81.5%) | 48/260 (18.5%) | |
| RVOTO | 77/98 (78.6%) | 21/98 (21.4%) | |
| Septal | 90/136 (66.2%) | 46/136 (33.8%) | |
| ECA Status | |||
| No | 502/580 (86.6%) | 78/580 (13.5%) | p < 0.0001 |
| Yes | 267/433 (61.7%) | 166/433 (38.3%) | |
|
Maternal Diabetes Status
(Gestational & Pregestational) | |||
| No/Unknown | 694/925 (75.0%) | 231/925 (25.0%) | p = 0.0247 |
| Yes | 73/85 (85.9%) | 12/85 (14.1%) | |
| Clinical Description at Evaluation | |||
| Apparently Isolated/Non-Syndromic | 613/667 (91.9%) | 54/667 (8.1%) | p < 0.0001 |
| Possibly Syndromic CHD | 155/242 (64.1%) | 87/242 (36.0%) | |
| Confirmed Syndrome at Evaluation | 1/104 (0.96%) † | 103/104 (99.04%) | |
| Consultation Time Period | |||
| 2014–2018 | 256/313 (81.8%) | 57/313 (18.2%) | p = 0.0084 |
| 2019–2022 | 407/549 (74.1%) | 142/549 (25.9%) | |
| 2023 | 106/151 (70.2%) | 45/151 (29.8%) | |
| Genetic Testing Ordering Strategy | |||
| None | 21/22 (95.5%) | 1/22 (4.5%) | p < 0.0001 ** |
| Prenatal Genetic Testing Only | 11/32 (34.4%) | 21/32 (65.6%) | |
| Outside Hospital Genetic Testing | 5/20 (25.0%) | 15/20 (75.0%) | |
| Targeted Cytogenetic Testing Only (FISH, karyotype) | 7/45 (15.6%) | 38/45 (84.4%) | |
| Chromosomal Microarray (postnatal) | 231/292 (79.1%) | 61/292 (20.9%) | |
| Targeted Molecular Genetic Testing Only (phenotype-specific/single-gene) | 4/12 (33.3%) | 8/12 (66.7%) | |
| Chromosome Microarray + Exome-Based Gene Panel/Exome Sequencing | 323/380 (85.0%) | 57/380 (15.0%) | |
| Genome Sequencing | 167/210 (79.5%) | 43/210 (20.5%) | |
| Number of Genetic Tests Completed | Mean = 1.5 (SD = 0.7) Median = 1.0 (IQR: [1.0, 2.0]) Mode = 1.0 Range = 4.0 |
Mean = 1.5 (SD = 0.7) Median = 1.0 (IQR: [1.0, 2.0]) Mode = 1.0 Range = 3.0 |
p = 0.2799 |
* When excluding trisomy 21, AVSD remained the class with largest proportion with a genetic diagnosis identified (n = 11/28, 39.3%); there remained a difference across all CHD classes (p = 0.0030). † This was a primary ciliary dyskinesia (PCD) clinical diagnosis case confirmed by nasal ciliary biopsy who otherwise had negative genetic testing. A specific genetic diagnosis was not made using genetic testing. The other case of PCD (see footnote in Table 1) was found to have a heterozygous variant and the clinical genetics team considered this diagnostic (while the other allele was assumed to be deeply intronic). ** When limiting genetic testing to CMA-only, CMA plus ES-based panel/ ES, and GS, there was no major difference in diagnostic yields. Proportions of those with diagnostic results include CMA-only (20.9%) CMA plus ES-based panel/ES (15.0%), and GS (20.5%), with p = 0.0929.