Eliyahu S, Weiner E, Lahav D, Shalev E
Department of Obstetrics and Gynecology, Central Emek Hospital, Afula, Israel.
Ultrasound Obstet Gynecol. 1997 May;9(5):314-8. doi: 10.1046/j.1469-0705.1997.09050314.x.
The purpose of this study was to evaluate the possibility of early diagnosis of Jarcho-Levin syndrome by ultrasound examination of the fetus. Over a period of 5 years, nine women from one Arab family, known to carry an autosomal recessive form of the disease, were prospectively and repeatedly examined using ultrasound. Out of eight pregnancies, four fetuses were diagnosed as being affected by the disease as early as 12 gestational weeks. Three elected to terminate the pregnancy before viability and one was born at term. There were no misdiagnoses. We conclude that early prenatal ultrasonographic diagnosis of Jarcho-Levin syndrome is feasible, although later sonographic confirmation is often warranted.
本研究的目的是评估通过胎儿超声检查早期诊断贾科-莱文综合征的可能性。在5年的时间里，对一个已知携带该疾病常染色体隐性形式的阿拉伯家庭中的9名女性进行了前瞻性和反复的超声检查。在8次妊娠中，有4例胎儿早在孕12周时就被诊断为患有该疾病。其中3例选择在胎儿具有生存能力之前终止妊娠，1例足月出生。没有误诊情况。我们得出结论，尽管通常需要后期超声检查确认，但对贾科-莱文综合征进行早期产前超声诊断是可行的。
