Table 4.
CNV for Cases of Death During the Perinatal Period or Prior to Hospital Discharge†
| Outcome | CNV Region | Size (Mb), Dup/Del | Genomic Coordinates | Anomalies/Diagnosis |
|---|---|---|---|---|
| Stillbirth (n=3) |
Pathogenic | |||
| 4p16.3p14 | 34.8 del | (249,494−35,018,295)×1 | Heart, 2-vessel cord; Wolf-Hirschhorn syndrome | |
| VUS | ||||
| 3q29 15q24.3 |
0.42 dup 0.56 del |
(196,892,569−197,317,103)×3 (76,659,792−77,220,569)×1 |
Heart, hydrops; MYH7 mutation (familial) | |
| 14q13.1q24.2 | 0 (UPD) | (34,635,871-70,754,507)×2 hmz | Multiple (limb body wall complex) | |
| Neonatal Death (n=7) |
Pathogenic | |||
| 22q11.2 | 2.83 dup | (18,636,748-21,465,659)×3 | Multiple (brain, heart, CDH, GU) | |
| VUS | ||||
| 1p36.11 | 0.25 del (mosaic) | (26,797,508-27,052,080)×1~2 | Multiple (brain, spine, CDH) | |
| 11p11.2 | 0.55 del | (46,862,035-47,414,071)×1 | Hydrops; PTPN11 mutation heterozygote - Noonan spectrum | |
| 15q25.2q25.3 | Del | CDH | ||
| 16q22.3q23.1 | 0.29 dup | (73,976,130-74,270,043)×3; 14.9% regions of hmz | Multiple (brain, GU); PEX1 mutation - peroxisome biogenesis disorder | |
| 16q23.1q23.2 | 2.7 del | Multiple (brain, neck, abdomen) | ||
| Yq11.223 Yq11.223q11.23 Yq11.23 |
0.49 dup 0.50 dup 0.39 dup (mosaic) |
(24,865,133-25,356,566)×1~2 (25,767,755-26,269,355)×1~2 (26,942,331-27,328,305)×1~2 |
Multiple (CDH, GU, musculoskeletal) | |
| Death After the Neonatal Period (n=5)‡ |
Pathogenic | |||
| 22q11.21 | 0.73 del | (20,728,956-21,461,659)×1 | Multiple (CDH, GU) | |
| 22q 15q (VUS) |
3.02 del 0.43 dup |
Heart (TOF, absent pulmonary valve); DiGeorge syndrome | ||
| VUS | ||||
| 10p11.21 | 0.26 dup | (35,099,799-35,362,977)×3 | Heart (TOF) | |
| Xq13.3 | 0.27 dup | (75,092,483-75,360,248)×3 | Heart (hypoplastic left heart syndrome) | |
| Xp22.33 Xq21.31q21.32 |
0.63 dup 0.28 dup |
(605,803-1,232,886)×3 (91,547,112-91,823,765)×3 |
CDH | |
CNV, copy number variant; Mb, megabases; dup, duplication; del, deletion; VUS, variant of uncertain significance; UPD, uniparental disomy; hmz, homozygosity; CDH, congenital diaphragmatic hernia; GU, genitourinary; TOF, Tetralogy of Fallot.
†
Data provided in as much detail as available. Additional CNV information for all other abnormal chromosomal microarray provided in Appendix A.
‡
Outcomes beyond the neonatal period not known for all cases. Missing discharge information for 6 abnormal chromosomal microarray cases.