GENETIC AND CHROMOSOMAL CAUSES

OF FETAL HYDROPS

• Chromosomal disorders (10%).
• Turner's syndrome.
• Down syndrome (1).
• Mucopolysaccharidosis (3).
• Pyruvate kinase deficiency (2).
• Storage diseases.
• Gaucher's disease.
• Tuberous sclerosis (4).
• Pena-Shokeir syndrome (5).
• Achondroplasia.
• Arthrogryposis multiplex congenita.
• Osteogenesis imperfecta.
• Neu-Laxova syndrome.

REFERENCES

1. Ho NK, Leong NK, Lim SB. Chylothorax in Down syndrome associated with hydrops fetalis. J Singapore Paediatr Soc 1989;31:90.
2. Gilsanz F, Vega MA, Gomez-Castillo et.al. Fetal anemia due to pyruvate kinase deficiency. Arch Dis CHILD 1993;69:523.
3. Wu BM, Sly WS. Mutational studies in a patients with the hydrops fetalis form of mucopolysaccharidosis type VII. Hum Mutat 1993;2:446.
4. Scurry J, Watkins A, Acton C et.al. Tachyarrhythmia, cardiac rhabdomyomata and fetal hydrops in a premature infant with tuberous sclerosis. J Pediatr CHILD Health 1992;28:260.
5. MacMillan RH, Harbert GM, Davis WD et.al. Prenatal diagnosis of of Pena-Shokeir syndrome type 1. Am J Med Genet 1985;21:279.