Prenatal diagnosis of sirenomelia has been made by ultrasound mostly during the first trimester or early second trimester, in which the amniotic fluid volume is usually normal, unrelated to the fetal urine production. Conversely in the second trimester, oligohydramnios due to renal agenesis makes the diagnosis of sirenomelia more difficult.
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| Ultrasound image of sirenomelia |
Sirenomelia, which is also known as mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. Affected infants are born with partial or complete fusion of the legs. Additional malformations may also occur including genitourinary abnormalities, gastrointestinal abnormalities, anomalies of the lumbarsacral spine and pelvis and absence or underdevelopment (agenesis) of one or both kidneys. Affected infants may have one foot, no feet or both feet, which may be rotated externally. The tailbone is usually absent and the sacrum is partially or completely absent as well. Additional conditions may occur with sirenomelia including imperforate anus, spina bifida, and heart (cardiac) malformations. Sirenomelia is often fatal during the newborn period. The exact cause of sirenomelia is unknown, most cases occur randomly for no apparent reason.
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| intrauterine and post-aborted images of sirenomelia |
The environmental factors that play a role in the development of sirenomelia are unknown. Some individuals may have a genetic predisposition to developing the disorder. A person who is genetically predisposed to a disorder carries a gene (or genes) for the disease, but it may not be expressed unless it is triggered or “activated” under certain circumstances, such as due to particular environmental factors. Researchers believe that environmental or genetic factors have a teratogenic effect on the developing fetus.
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