Table 1 Results of different indications for prenatal diagnosis
From: Application of chromosome microarray analysis in prenatal diagnosis
Prenatal diagnostic indications | n | Abnormal karyotype | Detection rate (%) | PCNVS | Detection rate (%) | VOUS | Detection rate (%) |
|---|---|---|---|---|---|---|---|
NIPT abnormal | 25 | 8 | 32 | 1 | 4 | 4 | 16 |
Heart malformation | 63 | 3 | 4.76 | 2 | 3.17 | 5 | 7.94 |
Urinary system abnormalities | 56 | 0 | 3 | 5.35 | 1 | 1.78 | |
Multiple malformations | 9 | 3 | 33.33 | 0 | 0 | ||
Lateral ventricle dilatation | 38 | 1 | 2.63 | 2 | 5.26 | 1 | 2.63 |
Digestive disorders | 22 | 0 | 1 | 4.55 | 2 | 9.09 | |
NT > 3 mm | 31 | 1 | 3.23 | 0 | 1 | 3.23 | |
Hydrocyst of the neck | 8 | 1 | 12.5 | 0 | 0 | ||
Foot inversion | 4 | 1 | 25 | 0 | 0 | ||
Abnormal karyotypeof couple | 8 | 1 | 12.5 | 0 | 1 | 12.5 | |
Abnormal Karyotype | 11 | 1 | 9.09 | 1 | 9.09 | 1 | 9.09 |
High-riskscreening | 3 | 0 | 1 | 1 | |||
Fetal growth restriction | 30 | 1 | 1 | 1 | |||
Oligohydramnios | 2 | 0 | 1 | 0 | |||
advanced maternal age | 3 | 2 | |||||
Nervous system abnormalities | 15 | 0 | 2 | 5 | |||
Cleft lip and palate | 5 | 2 | |||||
Polyhydramnios | 22 | 3 | |||||
stillbirth | 9 | 2 | |||||
Adverse pregnancy history | 3 | 1 | |||||
FISH does not match karyotype | 2 | 1 | |||||
Short nasal bone | 12 | 1 | |||||
Left ventricular strong echo | 13 | ||||||
Choroid plexus cyst | 11 | ||||||
Strong echo of bowel | 13 | ||||||
Eyes wide | 1 | ||||||
Pleural effusion | 7 | ||||||
Skeletal abnormalities | 11 | ||||||
Pulmonary cystadenoma | 5 | ||||||
Diaphragmatic hernia | 4 | ||||||
Isolated lung | 1 | ||||||
Total | 447 | 23 | 17 | 31 |