Kousseff B G, Mulivor R A
Obstet Gynecol. 1981 Jun;57(6 Suppl):9S-12S.
An obligate heterozygote for hypophosphatasia, gravida 3, para 2, had previously delivered a female infant who had shortening of the extremities and could not maintain respirations because of the pliability of the thorax. The infant had undermineralization of the skeleton, low serum alkaline phosphatase activity, and increased urinary phosphoethanolamine excretion; autopsy corroborated the diagnosis of congenital lethal hypophosphatasia. For the current pregnancy, uterine sonograms demonstrated adequate growth of the head and limbs, amniotic fluid cell culture showed normal alkaline phosphatase activity; and confirmatory radiographic study showed adequate mineralization of the skeleton. A healthy female infant was delivered. Prenatal diagnosis of congenital hypophosphatasia is available, and the triad of ultrasonography, alkaline phosphatase determination in the amniotic fluid cell culture, and radiography of the fetus is reliable in establishing the diagnosis.
一名低磷酸酯酶症的 obligate 杂合子孕妇，孕 3 产 2，此前曾产下一名女婴，该女婴四肢短小，因胸廓柔韧性差而无法维持呼吸。该婴儿骨骼矿化不足，血清碱性磷酸酶活性低，尿磷酸乙醇胺排泄增加；尸检证实了先天性致死性低磷酸酯酶症的诊断。对于此次妊娠，子宫超声检查显示头和四肢生长正常，羊水细胞培养显示碱性磷酸酶活性正常；确诊性放射学检查显示骨骼矿化正常。一名健康的女婴出生。先天性低磷酸酯酶症的产前诊断是可行的，超声检查、羊水细胞培养中碱性磷酸酶测定以及胎儿放射学检查这三者联合在确诊中是可靠的。
