Situation D: several losses, or an unbalanced result
A balanced rearrangement means a parent has the full amount of chromosome material, but with some segments swapped or flipped. The carrier is well, yet an embryo may receive an unbalanced copy, with material missing or extra. Among couples with recurrent miscarriage, roughly 3 to 6 in every 100 include a carrier.
UK guidance (RCOG) recommends offering both partners a chromosome test, a parental karyotype, when pregnancy tissue shows an unbalanced rearrangement or could not be tested (NHS criteria for the latter are narrower). European guidance advises it only after an individual risk assessment.
Carriers still have a good outlook. In a large Dutch study that followed couples for about six years, a healthy child was born to 83 in 100 carrier couples, compared with 84 in 100 couples without a rearrangement. Carriers were more likely to have another miscarriage along the way, though: about 49 in 100, against 30 in 100.
A genetics specialist can explain the options, including testing during pregnancy, or IVF with embryo testing (PGT-SR), which may reduce miscarriages but has not been shown to improve the overall chance of having a baby.
Recurrent miscarriage also calls for checks beyond genetics, such as blood tests for antiphospholipid syndrome, thyroid tests and an ultrasound assessment of the womb's shape. See recurrent miscarriage.