How is Sirenomelia diagnosed?

Sirenomelia, also known as mermaid syndrome, is an extremely rare congenital malformation that affects approximately one in every 60,000 to 100,000 live births. It is characterized by the fusion of the lower limbs, resulting in a single lower limb resembling a mermaid's tail. This condition is often associated with severe abnormalities in the internal organs, making it a life-threatening condition.

Diagnosing sirenomelia typically involves a combination of prenatal ultrasound imaging, physical examination, and further diagnostic tests. During routine prenatal ultrasound scans, the presence of sirenomelia can be detected as early as the first trimester. The ultrasound may reveal the fusion of the lower limbs, absence or malformation of the urinary bladder, abnormal kidney development, and other associated abnormalities.

After the initial ultrasound findings, a physical examination is conducted to assess the extent of the malformation and identify any additional physical abnormalities. This examination may involve evaluating the fusion of the lower limbs, examining the genital and urinary tract, and assessing the functionality of the internal organs.

To confirm the diagnosis and evaluate the severity of sirenomelia, additional diagnostic tests may be performed. These tests may include fetal MRI (magnetic resonance imaging) to provide detailed images of the internal organs, genetic testing to identify any underlying genetic abnormalities, and amniocentesis to analyze the amniotic fluid for any potential abnormalities.

It is important to note that sirenomelia is often associated with other severe birth defects, such as renal agenesis (absence of kidneys), gastrointestinal abnormalities, and cardiac malformations. Therefore, a comprehensive evaluation of the affected individual's overall health is crucial for appropriate management and treatment.