Table 1.
Patient Cohort Description.
| Variable | Cohort Descriptive Statistics |
|---|---|
| Sex | |
| Female | 443/1013 (43.7%) |
| Male | 570/1013 (56.3%) |
| Age at Consultation (Days) | Mean = 18.1 (SD = 47.0) Median = 3.0 (IQR: [1.0, 10.0]) |
| Age Group | |
| Neonate (0–28 days) | 880/1013 (86.9%) |
| Infant (29 days–1 year) | 133/1013 (13.1%) |
|
Race/Ethnicity Group
(Parent-Reported) |
|
| Asian/Pacific Island | 25/1013 (2.5%) |
| Black/African American | 126/1013 (12.4%) |
| Hispanic/Latino | 110/1013 (10.9%) |
| Other | 3/1013 (0.3%) |
| White | 707/1013 (69.8%) |
| Unknown/Declined | 42/1013 (4.2%) |
| CHD Class | |
| APVR | 28/1013 (2.8%) |
| AVSD | 37/1013 (3.7%) |
| Complex | 132/1013 (13.0%) |
| Conotruncal | 249/1013 (24.6%) |
| Heterotaxy/Laterality Spectrum | 73/1013 (7.2%) |
| LVOTO | 260/1013 (25.7%) |
| RVOTO | 98/1013 (9.7%) |
| Septal | 136/1013 (13.4%) |
| ECA Status | |
| No | 580/1013 (57.3%) |
| Yes | 433/1013 (42.7%) |
| ECA Number | Mean = 1.0 (SD = 1.6) Median = 0 ([IQR: [0, 1.0]) Mode = 0 |
| Maternal Diabetes Status (Gestational & Pregestational) | |
| No/Unknown | 928/1013 (91.6%) |
| Yes | 85/1013 (8.4%) |
| Clinical Description at Evaluation | |
| Apparently Isolated/Non-Syndromic | 667/1013 (65.8%) |
| Possibly Syndromic CHD | 242/1013 (23.9%) |
| Confirmed Syndrome at Evaluation | 104/1013 (10.3%) |
| Consultation Time Period | |
| 2014–2018 | 313/1013 (50.9%) |
| 2019–2022 | 549/1013 (54.2%) |
| 2023 | 151/1013 (14.9%) |
| Genetic Testing Ordering Strategy | |
| None | 22/1013 (2.2%) |
| Prenatal Genetic Testing Only | 32/1013 (3.2%) |
| Outside Hospital Genetic Testing | 20/1013 (2.0%) |
| Targeted Cytogenetic Testing Only (FISH, karyotype) | 45/1013 (4.4%) |
| Chromosomal Microarray (postnatal) | 292/1013 (28.8%) |
| Targeted Molecular Genetic Testing Only (phenotype-specific/single-gene) | 12/1013 (1.2%) |
| Chromosome Microarray + Exome-Based Gene Panel/Exome Sequencing | 380/1013 (37.5%) |
| Genome Sequencing | 210/1013 (20.7%) |
| Number of Genetic Tests Completed | Mean = 1.5 Median = 1.0 (IQR: [1.0, 2.0]) Mode = 1.0 Range = 4.0 |
| Genetic Diagnosis Identified/Confirmed | |
| No | 769/1013 (75.9%) |
| Yes | 244/1013 (24.1%) |
| Genetic Testing Result Types | |
| Normal/Negative | 451/1013 (44.5%) |
| Inconclusive with ≥1 Variant(s) of Uncertain Significance | 319/1013 (31.5%) |
| Diagnostic | 243/1013 (24.0%) |
| Genetic Diagnosis Type(s) | |
| None/Unclear | 768/1013 (75.8%) |
| Cytogenetic | 168/1013 (16.6%) |
| Molecular Genetic | 70/1013 (6.9%) |
| Cytogenetic & Molecular (>1 Diagnosis) |
5/1013 (0.5%) |
| Clinical Diagnosis, with Uninformative Genetic Testing | 2/1013 (0.2%) ‡ |
‡ Both of these cases were primary ciliary dyskinesia diagnosed based on abnormal ciliary biopsies; one case had completely negative/normal genetic testing, and another case had a single pathogenic variant in an autosomal recessive gene with assumption by the clinical team that a gene-specific genetic diagnosis was made but the other allele was undetectable by the genetic testing at that time. Acronyms: APVR = anomalous pulmonary venous return; AVSD = atrioventricular septal defect; CHD = congenital heart defect; ECA = Extracardiac anomalies; FISH = fluorescence in situ hybridization; IQR = Interquartile Range, LVOTO = left ventricular outflow track obstructive defect; RVOTO = right ventricular outflow tract obstructive defect; SD = standard deviation.