Table 3 Indications for routine amniocentesis. Every indication was counted once but many cases had more than one indication.
Indication | Number | Percentage (%) | Pathogenic Results | Diagnostic Yield (%) | VUS |
|---|---|---|---|---|---|
Fetal abnormalities | 979 | 45.0 | 125 | 12.8 | 35 |
Increased NT | 308 | 14.1 | 43 | 14.0 | 8 |
Cardiovascular malformations | 148 | 6.8 | 19 | 12.8 | 8 |
Central nervous system malformations | 134 | 6.2 | 11 | 8.2 | 3 |
Multiple malformations | 96 | 4.4 | 32 | 33.3 | 3 |
Urogenital malformations | 81 | 3.7 | 5 | 6.2 | 5 |
Facial malformations | 66 | 3.0 | 4 | 6.1 | 3 |
Skeletal malformations | 47 | 2.2 | 2 | 4.3 | 0 |
Digestive malformations | 21 | 1.0 | 1 | 4.8 | 0 |
FGR | 20 | 0.9 | 1 | 5.0 | 0 |
Fetal tumor | 19 | 0.9 | 4 | 21.1 | 1 |
Chest malformations | 16 | 0.7 | 2 | 12.5 | 0 |
Polyhydramnios | 8 | 0.4 | 1 | 12.5 | 0 |
Oligohydramnios | 6 | 0.3 | 0 | 0 | 0 |
Ascites | 5 | 0.2 | 0 | 0 | 0 |
Placental anomalies | 4 | 0.2 | 0 | 0 | 4 |
Suspected prenatal screening results | 612 | 28.1 | 177 | 28.9 | 26 |
Abnormal NIPT result | 436 | 20.0 | 167 | 38.3 | 19 |
Positive second trimester DS screening result | 176 | 8.1 | 10 | 5.7 | 7 |
Abnormal diagnostic test results | 36 | 1.7 | 9 | 25 | 2 |
Abnormal CMA result | 21 | 1.0 | 6 | 28.6 | 1 |
Abnormal karyotyping result | 15 | 0.7 | 3 | 20.0 | 1 |
Others | 549 | 25.2 | 23 | 4.2 | 26 |
Abnormal tribunal history | 188 | 8.6 | 8 | 4.3 | 8 |
Advanced maternal age | 163 | 7.5 | 8 | 4.9 | 8 |
Family history of genetic disease | 102 | 4.7 | 3 | 2.9 | 6 |
Patient’s request | 96 | 4.4 | 4 | 4.2 | 4 |
Total | 2177 | 100 | 334 | 15.3 | 89 |