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Prenatal gender determination and the diagnosis of genital anomalies

For centuries guessing the sex of the unborn child has been a popular activity amongst expectant parents and their families. With the introduction of ultrasonography (US) of the fetus visualization of the genitalia has become possible. Fetal sex can be assigned reasonably accurately from ≈ 12 weeks of gestation onwards. In the second trimester routine US for fetal anomalies is offered at ≈ 20 weeks of gestation, as part of standard antenatal care in many parts of the developed world. Although determining the gender at this US is still mainly attempted because of parental curiosity, it can sometimes form part of the protocol, as it can be clinically important. For example, accurately assessing fetal sex can assist in assigning zygosity in twin pregnancies. Whilst ambiguity of the genitalia can occasionally be detected at the time of routine US it is more commonly found when at a detailed US after detecting other abnormalities, or because of a relevant family history. Some cases are diagnosed after careful evaluation of fetal gender because of an antenatal discrepancy between the fetal karyotype and the genital anatomy [1–3]. In women at risk of X-linked genetic disease or of ambiguous development of the external genitalia, early gender assignment may give parents the option to avoid invasive testing in up to half of cases where the fetus would not be affected.