Polyhydramnios associated with rare genetic syndromes: two case reports

Area of Science:

• Medical Genetics
• Prenatal Diagnosis
• Obstetrics

Background:

• Polyhydramnios, an excess of amniotic fluid, can indicate underlying fetal abnormalities.
• Rare genetic conditions present diagnostic challenges in prenatal care.
• Timely diagnosis of polyhydramnios is essential for managing severe fetal implications.

Observation:

• Case 1: Polyhydramnios with macroglossia, later diagnosed with Kagami-Ogata syndrome postnatally.
• Case 2: Polyhydramnios with fetal macrosomia and echogenic bowels, diagnosed with Greig cephalopolysyndactyly syndrome.
• Both cases presented diagnostic complexities, with initial scans not revealing clear fetal anomalies.

Findings:

• Kagami-Ogata syndrome and Greig cephalopolysyndactyly syndrome are rare genetic causes of polyhydramnios.
• Diagnostic challenges arise from the rarity and complexity of these genetic conditions.
• Subtle or absent fetal anomalies on early scans can delay diagnosis.

Implications:

• Increased awareness of rare genetic causes of polyhydramnios is needed for obstetricians.
• High index of suspicion facilitates appropriate genetic counseling and prenatal testing.
• Early diagnosis enables multidisciplinary team planning for perinatal care and delivery in tertiary centers.