TABLE 3.
Unsolicited findings reported to parents
| IF category | Gene | Variant | Transcript ID | Classification | Phenotype |
|---|---|---|---|---|---|
| Gene associated with developmental delay and/or intellectual disability | NAA15 |
c.1826_1830del, p.Glu609Glyfs*20 (fetal de novo) |
NM_057175.3 | P | Intellectual disability |
| Variant(s) matching inheritance pattern of the actionable disease | ABCC9 | c.4537G>A, p.Ala1513Thr (paternal) | NM_005691.2 | LP | Atrial fibrillation |
| MYH7 | c.976G>C, p.Ala326Pro (maternal) | NM_000257.2 | LP | Cardiomyopathy | |
| MYLK | c.493delA, p.Thr165Profs*72(maternal) | NM_053025.3 | LP ➔ LB* | Aortic aneurysm | |
| Autosomal recessive carrier (>1:60) or both parents carry a heterozygous variant in the same gene | PIGV | c.494C>A, p.Ala165Glu (maternal, paternal) | NM_001202554.1 | LP | Mabry syndrome |
| ATP7B | c.3207C>A, p.His1069Gln (maternal) | NM_000053.3 | P | Wilson disease | |
| CYP21A2 | c.949C>T, p.Arg317* (paternal) | NM_000500.5 | P | Congenital adrenal hyperplasia | |
| CEP290 a | c.3175dupA, p.Ile1059Asnfs*11 (paternal) | NM_025114.3 | P | Ciliopathy | |
| HFE b | c.845G>A, p.Cys282Tyr (maternal) | NM_000410.3 | P | Hereditary Hemochromatosis | |
| SERPIN1A | c.1096G>A, p.Glu366Lys (maternal) | NM_001127701.1 | P | Alfa‐1‐antitrypsin deficiency | |
| WNT10A | c.682T>A, p.Phe228Ile (paternal) | NM_025216.2 | P | Odontoonychodermal dysplasia | |
| WNT10A | c.383G>A, p.Arg128Gln (maternal) | NM_025216.2 | LP | Odontoonychodermal dysplasia |
a
Variant was reported because phenotype matched, even though carrier frequency was below 1:60. This is our postnatal standard operating procedure. Extensive screening did not identify any second variant in the WES data or SNP array affecting this gene. In a prenatal setting, this variant should not have been reported. An abnormal SNP array result was identified as the cause of the ultrasound anomalies in this case, excluding the CEP290 variant as the main cause.
b
High carrier frequency in the general population, and reporting policy was adjusted to non‐reporting during the study, because of low clinical impact.