Table 3.
Results of Indication-Based Analyses
| Sex | Ethnicity/Race | Indication | Day IBA Ordereda(DOL) | Number of Genes Analyzed | Result | Gene (Transcript) | Variant(s) (Classification) (Zygosity) | Disease (Inheritance) | Penetrance |
|---|---|---|---|---|---|---|---|---|---|
| Well-Baby Cohort | |||||||||
| f | white | bilateral hip dysplasia | 47 | 52 | neg | – | – | – | – |
| f | white | atrial septal defect (PDA) | 4 | 94 | neg | – | – | – | – |
| m | multi-racial | hyperbilirubinemia (DOL 4–6) | 90 | 103 | neg | – | – | – | – |
| f | white | ventricular septal defect | 7 | 97 | neg | – | – | – | – |
| f | multi-racial | cavernous malformation | 400 | 102 | neg | – | – | – | – |
| f | white | liver disease | 212 | 758 | neg | – | – | – | – |
| NICU Cohort | |||||||||
| f | white | hypoplastic left heart | – | 93 | VUS | NKX2-5 (GenBank: NM_004387) | c.111G>A p.Leu37Leu (VUS) (het) | congenital heart disease (AD) | unknown |
| m | white | multiple congenital anomalies with possible diagnosis of VACTERL w/ hydrocephalus | – | 148 | VUS | FANCE (GenBank: NM_021922) | c.1331T>C p.Leu444Pro (VUS) (het) | Fanconi anemia (AR) | high |
| m | native Hawaiian or other Pacific Islander | aortic coarctation | – | 93 | VUS | NOTCH1 (GenBank: NM_017617) | c.4880G>A p.Arg1627His (VUS) (het) | congenital heart disease (AD) | unknown |
| m | white | tetralogy of Fallot, pulmonic stenosis, and cryptorchidism | – | 356 | VUS | NOTCH1 (GenBank; NM_017617) | c.4168C>A p.Pro1390Thr (VUS) (het) | congenital heart disease (AD) | unknown |
| m | white | encephalopathy | – | 459 | incb | GLDC (GenBank: NM_000170) | c.128delA p.Asp43Alafs∗48 (P) (het) | glycine encephalopathy (AR) | high |
| f | white | multiple congenital anomalies including TOF, pulmonary stenosis, TET spells, duodenal atresia, anteriorly displaced anus, and failure to thrive | – | 142 | neg | – | – | – | – |
| f | white | Pierre Robin sequence (micrognathia, cleft palate, glossoptosis), hooded eyes, tubular nose | – | 266 | neg | – | – | – | – |
| f | white | hemivertebrae | – | 1 | neg | – | – | – | – |
| m | white | double outlet right ventricle, atrioventricular canal defect, recurrent respiratory infections, laryngomalacia, enterocolitis, hypocal–cemia, short stature | – | 0 | neg | – | – | – | – |
| m | white | hypoplastic left heart | – | 94 | neg | – | – | – | – |
| f | white | tetralogy of Fallot with absent pulmonary valve | – | 94 | neg | – | – | – | – |
| f | white | anteriorly displaced anus (anorectal malformations) | – | 45 | neg | – | – | – | – |
| m | white | hypoplastic left heart | – | 93 | neg | – | – | – | – |
| f | white | dextrotransposition of the great arteries | – | 93 | neg | – | – | – | – |
| f | white | tricuspid atresia and ventricular septal defect | – | 93 | neg | – | – | – | – |
| f | multi-racial | respiratory distress (surfactant deficiency) and hypoglycemia | – | 169 | neg | – | – | – | – |
| m | white | hypoplastic left heart | – | 93 | neg | – | – | – | – |
| m | white | transposition of great arteries | – | 106 | neg | – | – | – | – |
| f | white | interstitial lung disease and facial dysmorphia | – | 366 | neg | – | – | – | – |
| m | white | liver disease, thrombocytopenia/anemia, hyperbilirubinemia, and hypoglycemia | – | 224 | neg | – | – | – | – |
| f | unspecified | congenital severe chronic lung disease | – | 387 | neg | – | – | – | – |
| f | white | aortic coarctation and ventricular septal defect | – | 93 | neg | – | – | – | – |
| f | unspecified | flat facial profile, preauricular pits, macroglossia, and hemangioma | – | 109 | neg | – | – | – | – |
| m | white | encephalopathy and hemangioma | – | 247 | neg | – | – | – | – |
| m | multi-racial | single ventricle, double inlet left ventricle with normally related great arteries | – | 186 | neg | – | – | – | – |
| m | white | laryngomalacia | – | 79 | neg | – | – | – | – |
| f | white | hypoglycemia and large for gestational age | – | 110 | neg | – | – | – | – |
| f | white | congenital anemia | – | 400 | neg | – | – | – | – |
| f | white | esophageal atresia with tracheoesophageal fistula | – | 251 | neg | – | – | – | – |
Abbreviations are as follows: m = male; f = female; DOL = day of life; neg = negative; VUS = variant of uncertain significance; inc = inconclusive; P = pathogenic; het = heterozygous; inh = inheritance; AD = autosomal dominant; and AR = autosomal recessive. aDay IBA ordered in the well-baby cohort.bSingle pathogenic variant associated with AR disease.