Table 3.
The list of pathogenic CNVs identified in the normal NT and enlarged NT groups.
| Group | Sample ID | Fetus sex | CNV position† | Size (Mb) | Chromosomal disorder‡ | Source of evidence | Reported cases with CHD and neurodevelopmental disorders§ |
|---|---|---|---|---|---|---|---|
| NNT | 00433 | F | chr2:g.10001_24135000dup | 24.13 | Partial trisomy 2p | Lurie et al.43 | CHD, ID |
| NNT | 00376 | F | chr3:g.196965295_197415294dup | 0.50 | 3q29 duplication syndrome | #611936 | ID |
| NNT | 00745 | F | chr4:g.10001_4015500del | 4.00 | Wolf-Hirschhorn syndrome | #194190 | CHD, ID |
| NNT | 00806 | M | chr5:g.10001_11160000del | 11.15 | Cri du Chat Syndrome | #123450 | ID, rare CHD |
| NNT | 00117 | F | chr5:g.60001_6560000del | 6.50 | Cri du Chat Syndrome | #123450 | ID, rare CHD |
| NNT | 00925 | M | chr8:g.12510001_23560000dup | 11.05 | 8p23.1 duplication syndrome | ORPHA:251076 | CHD, ID |
| NNT | 00324 | M | chr12:g.60001_34810001dup | 34.75 | Trisomy 12p | ORPHA:1699 | CHD, ID |
| NNT | 00823 | M | chr15:g.31976624_32526623del | 0.55 | 15q13.3 deletion syndrome | #612001 | ID, rare CHD |
| NNT | 01229 | M | chr16:g.15460001_16310000dup | 0.85 | 16p13.11 microduplication syndrome | ORPHA:261243 | ID, rare CHD |
| NNT | 00271 | M | chr16:g.25160001_26560000dup | 1.40 | 16p11.2p12.2 microduplication syndrome | ORPHA:261204 | rare ID, rare Schizophrenia |
| NNT | 00702 | F | chr16:g.29460001_30210000dup | 0.75 | 16p11.2 duplication syndrome | #614671 | ID; Schizophrenia |
| NNT | 00692 | F | chr16:g.29610001_30210000dup | 0.60 | 16p11.2 duplication syndrome | #614671 | ID, Schizophrenia |
| NNT | 00319 | M | chr16:g.29610001_30160000del | 0.60 | 16p11.2 deletion syndrome | #611913 | ID, ASD |
| NNT | 00234 | M | chr17:g.1_25400000dup | 25.40 | Trisomy 17p | ORPHA:261290 | ID, rare CHD |
| NNT | 00300 | M | chr17:g.14050001_15500000dup | 1.45 | Charcot-Marie-Tooth syndrome type 1A | #118220 | HMSNs |
| NNT | 00457 | M | chr17:g.14100001_15500000dup | 1.40 | Charcot-Marie-Tooth syndrome type 1A | #118220 | HMSNs |
| NNT | 01424 | M | chr17:g.16250001_22750000dup | 6.50 | Potocki-Lupski syndrome | #610883 | Autism, CHD, ID |
| NNT | 01532 | M | chr17:g.34800001_36250000del | 1.45 | Renal cysts and diabetes syndrome | #137920 | rare ID |
| NNT | 00837 | F | chr22:g.18600001_21900004dup | 3.30 | 22q11 duplication syndrome | #608363 | ID, rare CHD |
| NNT | 01069 | F | chr22:g.18900001_21500004dup | 2.60 | 22q11 duplication syndrome | #608363 | ID, rare CHD |
| NNT | 00593 | M | chr22:g.18900001_25150004dup | 6.25 | 22q11 duplication syndrome | #608363 | ID, rare CHD |
| NNT | 00317 | F | chr22:g.18950001_2145000dup | 2.50 | 22q11 duplication syndrome | #608363 | ID, rare CHD |
| NNT | 00952 | F | chr22:g.20700005_21500004dup | 0.80 | 22q11 duplication syndrome | #608363 | ID, rare CHD |
| NNT | 00042 | F | chr22:g.18850001_21600004del | 2.75 | DiGeorge syndrome | #188400 | ADHD, CHD, rare Autism |
| NNT | 00395 | M | chr22:g.45700005_51150004del | 5.45 | Phelan-McDermid syndrome | #606232 | rare ID |
| INT | 10003 | M | chr2:g.61087852_61537851del | 0.45 | 2p16.1-p15 deletion syndrome | #612513 | ADHD, Autism, ID |
| INT | 00608 | M | chr2:g.178879852_184979851del | 6.09 | 2q31.2 deletion syndrome | #612345 | ID, rare CHD |
| INT | 00178 | M | chr6:g.88610001_100310000del | 11.7 | Interstitial 6q microdeletion syndrome | Vignoli et al.44 | Autism, CHD, ID |
| INT | 00305 | F | chr6:g.128060001_171010000dup | 42.95 | Partial duplication of 6q | Conrad et al.45 | CHD, ID |
| INT | 00523 | F | chr16:g.14860001_16660000dup | 1.80 | 16p13.11 microduplication syndrome | ORPHA:261243 | ADHD, CHD, ID |
| INT | 00218 | F | chr18:g.41460001_77210000dup | 35.75 | Partial trisomy 18q | Cereda et al.46 | CHD. ID |
| INT | 00136 | F | chr22:g.18900001_21700004del | 2.80 | DiGeorge syndrome | #188400 | ADHD, CHD, rare Autism |
| INT | 00936 | M | chr22:g.18900001_21500004del | 2.60 | DiGeorge syndrome | #188400 | ADHD, CHD, rare Autism |
| INT | 00451 | M | chr22:g.18800001_21700004del | 2.90 | DiGeorge syndrome | #188400 | ADHD, CHD, rare Autism |
Abbreviations: NNT, normal NT; INT, increased NT; M, male; F, female; CNV, copy-number variation; ORPHA, Orphanet database; ADHD, attention deficit hyperactivity disorder; ASD, autism spectrum disorder; CHD, congenital heart disease; HMSNs, hereditary motor and sensory neuropathies; ID, intellectual disability.
†The positions of CNV are written in accordance with the International System for Human Cytogenomic Nomenclature (ISCN, 2016).
‡The name of the disorder is written as the entry name of OMIM (Online Mendelian Inheritance in Man) database, Orphanet database or descriptions in the cited articles.
§Symptom description of the corresponding pathogenic CNV was obtained from OMIM database, Orphanet database or cited articles.