Table 2. Diagnostic yield of fetal sequencing in fetuses with a normal karyotype/microarray.
(Data are largely taken from the systematic review by Mellis 2022 which covered publications from 1st January 2010 until 31st October 2021, as other reviews do not break down the categories by system.) Additional data is provided from publications identified more recently.
| Category | No. | Added diagnostic yield | Reference |
|---|---|---|---|
| Multisystem, selection not defined | 698 694 |
31% 33% |
Mellis 20223 Pauta 202220 |
| Selected for likely monogenic aetiology | 140 1293 |
40% 42% |
Pauta 202121 Mellis 20223 |
| Any abnormality(ies), no selection | 2771 | 15% | Mellis 20223 |
| Isolated Skeletal | 424 | 53% | Mellis 20223 |
| Neuromuscular/Fetal akinesia deformation sequence (FADS) | 33 | 37% | Mellis 20223 |
| Isolated Hydrops/oedema | 137 | 22% | Mellis 20223 |
| Isolated cardiac abnormalities | 773 | 11% | Mellis 20223 |
| Isolated increased NT (at presentation and throughout pregnancy) | 290 | 2% | Mellis 20223 |
| Increased NT plus other anomaly at presentation or later | 91 | 26% | Mellis 2022b22 |
| Isolated CNS (single and complex) | 417 | 17% | Mellis 20223 |
| Isolated congenital anomalies of kidneys and urinary tract (CAKUT) | 278 | 9% | Mellis 20223 |
| Isolated echogenic kidneys | 11 | 72% | Deng 202223 |
| Isolated agenesis of the corpus callosum | 45 | 29% | Lei 202224; Baptiste 202225 |