ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
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DOI：
10.1097/aog.0b013e3181bd12f4
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发表时间：
2009-10-01
影响因子：
7.2
通讯作者：
中科院分区：
文献类型：
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某些常染色体隐性遗传疾病在东欧犹太人（德系犹太人）后裔中更为普遍。此前，美国妇产科医师学院建议东欧犹太血统的个人提供泰-萨克斯病，卡纳万病和囊性纤维化的载体筛查作为常规产科护理的一部分。根据用于证明提供泰-萨克斯病，卡纳万病和囊性纤维化的携带者筛查的标准，美国妇产科医师学会遗传学委员会建议德系犹太血统的夫妇也应该提供家族性自主神经功能障碍的携带者筛查。德系犹太人后裔的个人可能会询问其他疾病的载体筛选的可用性。携带者筛查可用于粘脂沉积症IV、A型尼曼-匹克病、C型范可尼贫血、布卢姆综合征和戈谢病。
Certain autosomal recessive disease conditions are more prevalent in individuals of Eastern European Jewish (Ashkenazi) descent. Previously, the American College of Obstetricians and Gynecologists recommended that individuals of Eastern European Jewish ancestry be offered carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis as part of routine obstetric care. Based on the criteria used to justify offering carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis, the American College of Obstetricians and Gynecologists' Committee on Genetics recommends that couples of Ashkenazi Jewish ancestry also should be offered carrier screening for familial dysautonomia. Individuals of Ashkenazi Jewish descent may inquire about the availability of carrier screening for other disorders. Carrier screening is available for mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia group C, Bloom syndrome, and Gaucher disease.