Table 1.
List of diagnostic findings
| Case ID | NTD type | Variant | Nomenclature | Gene(s) | Region(s) | Size (bp) | Variant confirmation | Inheritance | Evidence (literature/internal database) | Evidence for association with NTDs |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Anencephaly | Trisomy | ogm[GRCh38] 18(p11.32q23)(1–80,373,285) × 3 | _ | Whole Chromosome 18 | _ | Karyotype | de novo | Dean et al. (2020) | S |
| 2 | Spina bifida | Trisomy | ogm[GRCh38] 18(p11.32q23)(1–80,373,285) × 3 | _ | Whole Chromosome 18 | _ | Karyotype | de novo | S | |
| 3 | Spina bifida | Trisomy | ogm[GRCh38] 18(p11.32q23)(1–80,373,285) × 3 | _ | Whole Chromosome 18 | _ | Karyotype | de novo | S | |
| 4 | Spina bifida | Trisomy | ogm[GRCh38] 18(p11.32q23)(1–80,373,285) × 3 | _ | Whole Chromosome 18 | _ | Karyotype | de novo | S | |
| 5 | Anencephaly | Unbalanced translocation | ogm[GRCh38] t(10;13)(p15.2;q22.2)(3,519,095;75,729,511), 13q22.2q34(75,729,511_114,352,102) × 1, 10p15.3p15.2(18,514_3,463,629) × 3 |
_ | Partial loss of Chr 13 and gain of Chr 10 | 38,622,592 (Chr 13), 3,445,116 (Chr 10) | Karyotype, CMA | Paternal (balanced carrier) | Lou et al. (2000); Lurie et al. (2016) | S |
| 6 | Spina bifida | Deletion | ogm[GRCh38] 15q24.1q24.2(72,656,367_75,788,985) × 1 |
_ | Partial loss of Chr 15 | 3,120,511 | CMA | de novo | El-Hattab et al. (2009) | S |
| 7 | Anencephaly | Deletion | ogm[GRCh38] 1q23.2(160,457,896_160,469,769) × 1mat |
VANGL2 | Promoter | 3042 | qPCR | Maternal | MIM# 182940 | S |
| 8 | Anencephaly and cervical rachischisis (OS-CS) | Deletion | ogm[GRCh38] Xq11.2(64,180,374_64,197,924) × 1 |
AMER1 | Exon 2 | 7665 | X-Array | Maternal (affected with OS-CS) | MIM# 300373; Winter et al. (1980) | S |
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(S) Strong, (OS-CS) osteopathia striata with cranial sclerosis.
