| Timing | While pregnancy tissue remains in the womb, preferably before treatment. Less reliable from about 12 hours after it passes; in a small Danish group sampled after surgery, about 3 in 10 samples were inconclusive by day 3. | After the tissue has passed or been removed, if it was collected and kept fresh. It should reach the laboratory promptly. |
| Sample | An ordinary blood sample. Often only around 5 in 100 of its DNA fragments come from the placenta. | Pregnancy tissue in a sterile pot, without formalin, sometimes with a sample of your blood as well. |
| What it looks at | Extra or missing whole chromosomes, such as trisomies and monosomy X; in some tests, large missing or extra sections. | A rapid check for common changes, then a microarray of every chromosome, including smaller missing or extra pieces. SNP-based arrays also detect triploidy. |
| What it can miss | Triploidy, with the counting methods used in studies; changes under about 7 million DNA letters (7 Mb) in one study; mosaicism; uniparental disomy; balanced rearrangements; single-gene changes. | Balanced rearrangements; single-gene changes; changes below the array's resolution; some low-level mosaicism. It may also find a change of uncertain meaning. |
| Accuracy | Against tissue, it detected about 78 in 100 chromosome changes (not counting triploidy, which it cannot see) and wrongly flagged about 9 in 100 losses with normal chromosomes (8 studies, 552 miscarriages). | The reference standard that blood-test studies are judged against, provided genuine pregnancy tissue was tested. |
| Common reasons for no result | Too little placental DNA (a low 'fetal fraction'), especially once the tissue has passed. In a Danish study of 1,000 women, 11 in 100 were inconclusive. | No tissue collected, tissue put in formalin, a sample that proves to be maternal tissue, or cells failing to grow for karyotyping (about 1 in 5). |
| Maternal contamination | Most of the DNA is yours by design, and the test allows for it. Rarely, a variation in your own chromosomes is mistaken for the pregnancy's. | Common with karyotyping: about 22 in 100 samples in one study. SNP-based arrays, or comparison with your blood, can detect it. |
| Practicalities | One blood test, ideally just after a scan confirms tissue is still in place and checks for a second sac. Not part of standard NHS care. | Tissue has to be kept: in theatre after surgery, or at home after tablets or waiting. On the NHS, usually offered from the third miscarriage. |