Diagnosis of fertility issues of individuals (males and females) with myotonic dystrophy may include:
- Blood tests to measure circulating hormone levels (including testosterone, estradiol, FSH, LH, and thyroid hormones)
- Semen analysis (where possible)
Polyhydramnios is typically diagnosed by ultrasound examination. An increase in amniotic fluid volume may be qualitative or quantitative. Serial examinations can identify potential issues, even if sensitivity and positive predictive values are low in any one test.
Fetal hydrops is typically diagnosed by ultrasound examination.