Table 2.
Descriptive Statistics of Extracardiac Anomalies Status Across Relevant Variables.
| Extracardiac Anomalies Status | |||
|---|---|---|---|
| Variable | No | Yes | X2/Exact or Kruskal-Wallis Test p-Value |
| Sex | |||
| Female | 247/443 (55.8%) | 195/443 (44.2%) | p = 0.3951 |
| Male | 333/570 (58.4%) | 237/570 (41.6%) | |
| Age at Consultation (Days) | Mean = 13.4 (SD = 36.0) Median = 3.0 (IQR: [1.0, 8.0]) |
Mean = 24.2 (SD = 58.0) Median = 2.0 (IQR: [1.0, 14.0]) |
p = 0.5462 |
| Age Group | |||
| Neonate (0–28 days) | 520/880 (59.1%) | 360/880 (40.9%) | p = 0.0024 |
| Infant (29 days-1 year) | 60/133 (45.1%) | 73/133 (54.9%) | |
|
Race/Ethnicity Group
(Self-Reported) | |||
| Asian/Pacific Island | 13/25 (52.0%) | 12/25 (48.0%) | p = 0.2229 |
| Black/African American | 61/126 (48.4%) | 65/126 (51.6%) | |
| Hispanic/Latino | 62/110 (56.4%) | 48/110 (43.6%) | |
| Other | 1/3 (33.3%) | 2/3 (66.7%) | |
| White | 421/707 (59.6%) | 286/707 (40.5%) | |
| Unknown/Declined | 22/42 (52.4%) | 20/42 (47.6%) | |
| CHD Class | |||
| APVR | 23/28 (82.1%) | 5/28 (17.9%) | p < 0.0001 |
| AVSD | 17/37 (45.9%) | 20/37 (54.1%) | |
| Complex | 71/132 (53.8%) | 61/132 (46.2%) | |
| Conotruncal | 168/249 (67.5%) | 81/249 (32.5%) | |
| Heterotaxy/Laterality Spectrum | 8/73 (11.0%) | 65/73 (89.0%) | |
| LVOTO | 187/260 (71.9%) | 73/260 (28.1%) | |
| RVOTO | 71/98 (72.5%) | 27/98 (27.6%) | |
| Septal | 35/136 (25.7%) | 101/136 (74.3%) | |
|
Maternal Diabetes Status
(Gestational & Pregestational) | |||
| No/Unknown | 533/925 (57.6%) | 392/925 (42.4%) | p = 0.2850 |
| Yes | 44/85 (51.8%) | 41/85 (48.2%) | |
| Clinical Description at Evaluation | |||
| Apparently Isolated/Non-Syndromic | 526/667 (78.9%) | 141/667 (21.1%) | p < 0.0001 |
| Possibly Syndromic CHD | 27/242 (11.2%) | 215/242 (88.8%) | |
| Confirmed Syndrome at Evaluation | 27/104 (26.0%) | 77/104 (74.0%) | |
| Consultation Time Period | |||
| 2014–2018 | 195/313 (62.3%) | 118/313 (37.7%) | p = 0.0078 |
| 2019–2022 | 314/549 (57.2%) | 235/549 (42.8%) | |
| 2023 | 71/151 (47.0%) | 80/151 (53.0%) | |
| Genetic Testing Ordering Strategy | |||
| None | 19/22 (86.4%) | 3/22 (13.6%) | p < 0.0001 |
| Prenatal Genetic Testing Only | 6/32 (18.8%) | 26/32 (81.3%) | |
| Outside Hospital Genetic Testing | 2/20 (10.0%) | 18/20 (90.0%) | |
| Targeted Cytogenetic Testing Only (FISH, karyotype) | 17/45 (37.8%) | 28/45 (62.2%) | |
| Chromosomal Microarray (postnatal) | 203/292 (69.5%) | 89/292 (30.5%) | |
| 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 | 217/380 (57.1%) | 163/380 (42.9%) | |
| Genome Sequencing | 112/210 (53.3%) | 98/210 (46.7%) | |
| Number of Genetic Tests Completed | Mean = 1.4 (SD = 0.6) Median = 1.0 (IQR: [1.0, 2.0]) Mode = 1.0 Range = 3.0 |
Mean = 1.6 (SD = 0.7) Median = 2.0 (IQR: [1.0, 2.0]) Mode = 1.0 Range = 4.0 |
p = 0.0001 |
| Genetic Diagnosis Identified/Confirmed | |||
| No | 502/769 (65.3%) | 267/769 (34.7%) | p < 0.0001 |
| Yes | 78/244 (32.0%) | 166/244 (68.0%) | |
| Genetic Testing Result Types | |||
| Normal/Negative | 296/451 (65.6%) | 155/451 (34.4%) | p < 0.0001 |
| Inconclusive with ≥1 Variant(s) of Uncertain Significance | 206/319 (64.6%) | 113/319 (35.4%) | |
| Diagnostic | 78/243 (32.1%) | 165/243 (67.9%) | |
| Genetic Diagnosis Type(s) | |||
| None/Unclear | 502/768 (65.4%) | 266/768 (34.6%) | Exact p < 0.0001 |
| Cytogenetic | 57/168 (33.9%) | 111/168 (66.1%) | |
| Molecular Genetic | 20/70 (28.6%) | 50/70 (71.4%) | |
| Cytogenetic & Molecular (>1 Diagnosis) |
1/5 (20.0%) | 4/5 (80.0%) | |
| Clinical Diagnosis, with Uninformative Genetic Testing | 0/2 (0.0%) | 2/2 (100.0%) | |