For many years, it has been good clinical practice to offer chromosome testing to women with recurrent miscarriage. This chapter addresses parental chromosome testing and describes couples carrying a structural chromosome abnormality ascertained through recurrent miscarriage work-up. Conventional parental chromosome testing is offered to couples after they have experienced recurrent miscarriage. If one of the partners carries a structural chromosome abnormality, products of conception can have a normal karyotype, the same karyotype as the carrier parent, or an unbalanced karyotype. The latter can lead to miscarriage, stillbirth or the birth of a child with major congenital impairments. Molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) are improving all the time and could play a role in the future in establishing submicroscopic chromosome abnormalities, resulting in another way of assessing abnormalities which play a role in couples with recurring miscarriage (RM).

In recent years ultrasound diagnosis and improved understanding of problems related to early pregnancy have led to the introduction of medical and expectant management of miscarriage and selected cases of ectopic pregnancy. The commonest early pregnancy complication of spontaneous miscarriage occurs in approximately 15-20% of all pregnancies, as recorded by hospital episode statistics. The embryonic period occupies the first 8 postfertilization weeks, during which organogenesis takes place. Gynecologists and ultrasonographers acknowledge the embryonic period by speaking about fetal heart action and fetal activity before the end of organogenesis. Between 1% and 2% of fertile women will experience recurring miscarriage (RM). Recent papers testify to the high rate of abnormal chromosome type when pregnancy loss has occurred. By actuarial analysis, the success rate for the next pregnancy can be reasonably predicted based on maternal age and number of losses. High-resolution transvaginal ultrasound provides surveillance and reassurance for the majority of women.