Prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple - A case report

BACKGROUND: Hypophosphatasia is a rare autosomal recessive metabolic disord er characterized by lo ru serum and tissue alkaline phosphatase activity, i ncreased urinary excretion of phosphoethanolamine and ricketslike changes i n the bone. CASE: We present a case of prenatal diagnosis of congenital hypophosphatasi a in a consanguineous Bedouin couple. The case was diagnosed at 24.5 weeks of gestation. Sonographic evaluation revealed a fetus with short and deform ed bones and a hypoechogenic skull. Based on the sonographic findings and t he obstetric history of the couple, hypophosphatasia was diagnosed. The par ents opted for pregnancy termination. Feticide was accomplished uneventfull y. Laboratory findings confirmed the diagnosis. CONCLUSION: This couple was prone to this metabolic disorder due to their c onsanguineous marriage and previous affected fetus. Early-first-trimester p renatal diagnosis by first-trimester chorionic villus sampling or second-tr imester measuring of alkaline phosphatase activity in the amniotic fluid is required to exclude this lethal disease in subsequent pregnancies.