Table 6. Overview of the clinical aspects of the fetuses with CNVs of unclear clinical significance.
| Category | Case No. | Gest (w) | Sample type | DS +ve | Ultrasound abnormalities | Karyo-type | Array results | CNV size and type | OMIM Genes/Locus | Outcome | Phenotype and other information |
| First-tier test | 1 | 19+2 | AF | Y | DS+ve risk 1∶105 | 46,XX | arr 1q21.1(144,998,070-146,193,043)×1 mat | 1.19 Mb loss | 1q21.1 microdeletion | Live birth at 37+6w, 3.14 kg | No abnormality at birth. FU paediatricians for failure to thrive. Growth parameters below 3rd centile. |
| 2 | 20 | AF | N | USS: early onset IUGR | 46,XX | arr 16p11.2(29,564,890-30,100,123)×1 dn | 535.23 kb loss | 16p11.2 microdeletion | TOP at 24w | No information | |
| 3 | 13+5 | CV | Y | DS +ve 1st tri, risk 1∶190, USS: increased NT 4.1 mm | 46,XY | arr 3p26.3(76,277-3,092,911)×1 pat,9p24.3(485,809-551,031)×1 pat | 3.02 Mb loss at 3p, 65.22 kb loss at 9p | CHL1, CNTN6, CNTN4, IL5RA, KANK1 | Live birth at 39+5w, 3.92 kg | No abnormality at birth. Last update of baby normal. | |
| Further test | 4 | 12+3 | Cultured CV | Y | USS: 12wk scan showed cystic hygroma, NT 5.6 mm, 18wk scan showed TOF | 46,XY | arr 16p12.1(21,857,845-22,336,067)×1 dn | 478.22 kb loss | 16p12.1 microdeletion | TOP at 20w | Postmortem: TOF |
| 5 | 22+1 | Cultured AF | N | USS: increased cisterna magnum 1.03 cm | 46,XY | arr 16p13.11p12.3(15,419,888-18,054,322)×3 mat | 2.63 Mb gain | 16p13.11 microduplication | Live birth at 38+6w, 3.32 kg | No abnormality at birth. | |
| 6 | 17+2 | Cultured AF | N | USS: Increase NT 5.2 mm in 1st trimester. Previous child with bilateral SVC, dysmorphism, global developmental delay | 46,XY | arr 15q11.2(20,372,901-20,636,841)×1 pat | 263.94 kb loss | 15q11.2 microdeletion | Live birth at 40+6w, 2.84 kg | Noted bilateral preauricular sinuses at birth. FU paediatricians for 15q11.2 microdeletion from paternal origin (tested at another unit). Last update of baby normal. | |
| 7 | 22+5 | Cultured AF | N | USS: TOF, small thymus | 46,XX | arr 1q21.1(144,100,334-144,458,066)×1 dn | 357.73 kb loss | 1q21.1 microdeletion with susceptibility for thrombocytopenia-absent radius (TAR) | Live birth at 38w, 2.22 kg. | Last FU at 9 months: 6 kg. TOF with surgical correction done; left indirect inguinal hernia with herniotomy done; clefting of soft palate; poor feeding with recurrent projectile vomiting; failure to thrive with short stature; insucking of chest since birth | |
| 8 | 21+6 | Cultured AF | N | USS: TGA | 46,XX | arr 2q13(111,114,738-112,817,963)×1 mat | 1.7 Mb loss | BUB1, BCL2L11, ANAPC1, MERTK, FBLN7 | TOP at 23+6w | Postmortem: TGA | |
| 9 | 19 | Cultured AF | N | USS: large omphalocoele with liver herniation, TOF | 46,XY | arr 2q21.1(130,769,854-131,199,432)×3 pat | 429.6 kb gain | CCDC115, IMP4, PTPN18, CFC1 | TOP at 23+2w | Postmortem: omphalocoele, TOF, single umbilical artery | |
| 10 | 22 | Cultured AF | N | USS: bilateral club feet. Right hand held in fixed flexion position with overlapping finger | 46,XX | arr 2p21(45,025,361-45,129,076)×3 pat,15q13.3q14(30,846,564-31,432,930)×3 mat | 98.46 kb gain, 586.4 kb gain | SIX3, SIX2, FMN1, RYR3 | TOP at 23+4w | Postmortem: low set ears, multiple joint contractures, compatible with arthrogryposis multiplex congenita |
AF: amniotic fluid; CM: cisterna magna; CV: chorionic villi; DS: Down syndrome screening; FU: follow up; Gest: Gestation; IUGR: intrauterine growth restriction; N: not DS +ve or not mentioned; NT: nuchal translucency; SVC: superior vena cava; TGA: transposition of great arteries; TOF: Tetralogy of Fallot; TOP: termination of pregnancy; USS: ultrasound; Y: yes; +ve: positive.