Microphthalmia--prenatal ultrasonic diagnosis: a case report

Area of Science:

• Medical Imaging
• Genetics
• Prenatal Diagnosis

Background:

• Fraser syndrome is a rare genetic disorder characterized by cryptophthalmia, absence of the nasal septum, and ambiguous genitalia.
• Previous diagnosis of Fraser syndrome in a family highlights the importance of early detection in subsequent pregnancies.

Observation:

• Real-time ultrasonography was used for prenatal diagnosis of microphthalmia.
• The diagnosis was made at 18 weeks' gestation.
• The fetus was from a patient with a previously diagnosed infant with Fraser syndrome.

Findings:

• Microphthalmia was identified as a component of Fraser syndrome.
• Fetal facial bones and orbits are easily visualized in the second trimester, facilitating diagnosis.
• Prenatal diagnosis of microphthalmia in this case was possible due to its association with Fraser syndrome.

Implications:

• Early recognition of microphthalmia aids in the diagnosis of Fraser syndrome during pregnancy.
• Ultrasonography in the second trimester allows for the detection of fetal anomalies associated with genetic syndromes.
• This diagnostic capability can inform genetic counseling and management strategies for affected families.