Table 4. Clinically significant CNVs other than common aneuploidies detected in the first-tier test study with abnormalities detected by both aCGH and karyotyping.
| Case No. | Gest (w) | Sample type | Indication for study | Initial Karyotype | Array results | CNV size and type/syndrome or locus | Outcome | Phenotype and other information |
| 17 | 23+3 | Cultured AF | USS: diaphragmatic hernia, hyperextended right knee | 46,XX,der(15)t(4;15)(p15.2;q26.1)pat | arr 4p16.3p15.1(33,860-28,155,263)×3 dn, 15q26.1q26.3(87,502,509-100,208,480)×1 dn | 28.12 Mb gain at 4p, 12.71 Mb loss at 15q/Congenital diaphragmatic hernia | TOP at 23w | Postmortem: low set ears, receded chin, clenched fists, right knee dislocation, rocker-bottom feet, left diaphragmatic hernia, lung hypoplasia |
| 18 | 11+2 | CV | USS: cystic hygroma | 46,XX,der(7)t(7;11)(q35;p12)pat | arr 7q35q36.3(146,772,782-158,816,094)×1, 11p15.5p12(195,983-42,558,628)×3 | 12.04 Mb loss at 7q, 42.36 Mb gain at 11p | Miscarriage at 16w | Abortus: cleft lip |
| 19 | 13+1 | CV | USS: cardiomegaly, club feet at 13w. No obvious fetal abnormalities seen at 16w. Previous child with 46,XX,t(5;9)(p15.2;p21)mat | 46,XY,der(5)t(5;9)(p15.2;p21)mat | arr 5p15.33p15.2(108,467-13,978,254)×1, 9p24.3p21.1(199,254-29,362,821)×3 | 13.87 Mb loss in 5p, 29.16 Mb gain in 9p | TOP at 16w | Postmortem: no anatomical abnormality |
| 20 | 21+6 | AF | USS: bilateral complete cleft lip and bilateral cleft palate | 46,XX,4p- | arr 4p16.3p16.1(33,860-8,772,114)×1,8p23.3p23.1(192,262-6,907,722)×3 | 8.74 Mb loss in 4p/Wolf Hirschhorn syndrome, 6.72 Mb gain in 8p | TOP | Postmortem: bilateral cleft lip and palate. Updated karyotype: 46,XY,der(4)t(4;8)(p16;p23)dn |
| 21 | 12+6 | CV | Maternal age, DS +ve | 47,XX,+7 | arr 7p22.3q36.3(136,363-158,816,094)×2∼3 | mos +7 (60%) | Cervical incompetence; spontaneous miscarriage at 21w | Postmortem: single umbilical artery |
| 22 | 14+2 | Placental tissue | DS +ve, USS: mild cardiomegaly, pericardial effusion, increased placental thickness | mos 47,XX,+16 [8]/46,XX [14] | arr 12q22q23.1(93,607,866-95,066,901)×3 Trisomy 16 | +16 | PPROM at 14w and TOP performed | No information |
| 23 | 22+5 | AF | USS: abnormal brain with echoic shadow 3.9 cm, ? absent corpus callosum, holoprosencephaly | 46,XY,13q- | arr 13q32.1q34(96,486,944-114,109,838)×1 | 17.62 Mb loss in 13q32.1-13q34 | TOP at 23w | Postmortem: holoprosencephaly, ASD. Updated karyotype: 46,XY,del(13)(q32)dn |
AF: amniotic fluid; ASD: atrial septal defect; CV: chorionic villi; DCDA: dichorionic diamniotic; DS: Down syndrome screening; FB: fetal blood; Gest: Gestation; IUGR: intrauterine growth restriction; PPROM: preterm premature rupture of membranes; TOP: termination of pregnancy; USS: ultrasound scan findings; w: weeks; +ve: positive.