Trisomy 16 mimicking hydatidiform mole

Area of Science:

• Reproductive Medicine
• Genetics
• Pathology

Background:

• Clinical suspicion of complete hydatidiform mole in a first-trimester miscarriage.
• Initial histopathological and immunohistochemical analyses suggested a partial hydatidiform mole.

Purpose of the Study:

• To investigate the accurate diagnosis of a suspected hydatidiform mole in early miscarriage.
• To determine the role of genetic analysis in differentiating placental abnormalities.

Main Methods:

• Histopathological and immunohistochemical analyses.
• Genetic analysis including biparental genome composition assessment.
• Karyotyping for chromosomal abnormalities.

Main Results:

• Histomorphology was consistent with a partial hydatidiform mole.
• Genetic analysis excluded partial hydatidiform mole due to biparental genome.
• Trisomy of chromosome 16 was detected, a known cause of early abortion with abnormal placental morphology.

Conclusions:

• Trisomy 16 can present with placental histomorphology mimicking a partial hydatidiform mole.
• Genetic analysis is essential for accurate diagnosis and appropriate management of early pregnancy loss.
• Correct diagnosis impacts follow-up and prognosis for future pregnancies.