Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem 91031, Israel.
Prenat Diagn. 2010 Oct;30(10):924-7. doi: 10.1002/pd.2584.
Although prenatal diagnosis and genotyping are available for Gaucher disease, genetic counseling for an affected child's parents reflects the inability to predict disease course with certainty. The purpose of this survey is to ascertain disease status of children identified by prenatal screening.
All carrier couples for glucocerebrosidase mutations who were counseled at our large Gaucher Clinic were included; none had genotyped the fetus. Medical status of children was assessed by questionnaires and data were collected from clinic charts and/or telephone contact with the parents.
Of 34 children born, 1 died in utero, 5 fetuses (N370S/N370S) aborted. Of 21 genotyped N370S/N370S, 7 children had Gaucher-like symptoms/signs but for only one child (two symptoms) were these ascribable to Gaucher disease; four children had non-Gaucher symptoms/signs.
Of 21 children whose parents pursued prenatal counseling for Gaucher disease and were found to have the N370S/N370S genotype, none has presented with severe disease with follow-up of 15 years. The Israeli experience shows that Gaucher disease N370S screening does not identify children requiring treatment, but rather leads to termination of asymptomatic fetuses; this may lead to reconsideration of guidelines regarding Gaucher screening.
尽管产前诊断和基因分型可用于戈谢病，但受影响儿童的父母的遗传咨询反映出无法确定疾病的进程。本研究的目的是确定通过产前筛查发现的儿童的疾病状况。
所有接受我们大型戈谢病诊所咨询的葡萄糖脑苷脂酶突变携带者夫妇均包括在内；均未对胎儿进行基因分型。通过问卷调查评估儿童的医疗状况，并从临床图表和/或与父母的电话联系中收集数据。
在 34 名出生的儿童中，1 名胎儿在子宫内死亡，5 名（N370S/N370S）胎儿流产。在 21 名 N370S/N370S 基因分型的儿童中，有 7 名儿童有戈谢样症状/体征，但仅有 1 名儿童（2 种症状）可归因于戈谢病；4 名儿童有非戈谢症状/体征。
在 21 名父母因戈谢病进行产前咨询且发现 N370S/N370S 基因型的儿童中，在随访 15 年后，没有儿童出现严重疾病。以色列的经验表明，戈谢病 N370S 筛查不能识别需要治疗的儿童，而是导致无症状胎儿的终止；这可能导致重新考虑戈谢筛查的指南。
