Prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. A case report.
BACKGROUND
Hypophosphatasia is a rare autosomal recessive metabolic disorder characterized by low serum and tissue alkaline phosphatase activity, increased urinary excretion of phosphoethanolamine and ricketslike changes in the bone.


METHODS
We present a case of prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. The case was diagnosed at 24.5 weeks of gestation. Sonographic evaluation revealed a fetus with short and deformed bones and a hypoechogenic skull. Based on the sonographic findings and the obstetric history of the couple, hypophosphatasia was diagnosed. The parents opted for pregnancy termination. Feticide was accomplished uneventfully. Laboratory findings confirmed the diagnosis.


CONCLUSIONS
This couple was prone to this metabolic disorder due to their consanguineous marriage and previous affected fetus. Early-first-trimester prenatal diagnosis by first-trimester chorionic villus sampling or second-trimester measuring of alkaline phosphatase activity in the amniotic fluid is required to exclude this lethal disease in subsequent pregnancies.
Gortzak-Uzan
L
L
Department of Obstetrics and Gynecology, Soroka University Medical Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Sheiner
E
E
Gohar
J
J
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal