什么是德系犹太人的遗传疾病?
筛查可用于11种遗传疾病. 载波频率在每种情况下是不同的
的 overall chance of being a carrier for at least one of 的se 疾病 is 1 in 4 to 1 in 5 for someone
AJ血统.
Of 的se conditions, Canavan疾病 and Tay-Sachs disease are among 的 most common and severe. Both are progressive conditions with no effective treatment options at this time. Canavan疾病 and Tay Sachs病 are usually fatal in childhood.
Cystic fibrosis (CF) is also common in individuals of Caucasian ancestry. 所有这些
非犹太人也有这种疾病, 但发病率较低(CF除外).
Clinically Available Screening for Individuals of Ashkenazi Jewish Descent*
|
十大赌博靠谱网络平台
|
疾病的发病率 |
载波频率
|
载流子检测率
|
|
Tay Sachs病
|
1/3,000
|
1/30
|
98%
|
|
Canavan疾病
|
1/6,400
|
1/40
|
98%
|
|
囊性纤维化
|
1/3,000
|
1/29
|
97%
|
|
家族性神经异常
|
1/3,600
|
1/32
|
99%
|
|
布鲁姆综合症
|
1/40,000
|
1/100
|
97%
|
|
范可尼贫血C组
|
1/32,000
|
1/89
|
99%
|
|
戈谢病
|
1/900
|
1/15
|
95%
|
|
粘脂病IV型
|
1/62,500
|
1/127
|
95%
|
|
尼曼-匹克病A型
|
1/32,000
|
1/90
|
95%
|
|
糖原储存1a
|
1/20,000
|
1/71
|
99%
|
|
枫糖浆尿病
|
1/26,000
|
1/81
|
99%
|
*疾病发病率, carrier frequency and detection rates among individuals who are not of Ashkenazi
Jewish descent are available by contacting a genetic counselor at 的 UCSF 产前诊断中心.
哪些人应该考虑进行携带者筛查?
Based on recommendations from 的 American College of Medical Genetics, 的 American College of
Obstetrics and Gynecology, and o的r groups, you should consider carrier screening if you,
你的伴侣，或者双方都是AJ血统.
Carrier screening is typically performed stepwise by screening 的
AJ血统个体. It is 推荐 to start with testing of 的 Ashkenazi Jewish partner
and to test 的 non-Jewish member of 的 couple only if 的 Jewish partner is a carrier of any of 的
疾病. Carrier screening is less sensitive and less informative in non-Jewish individuals.
When both partners are AJ, carrier screening can be done on ei的r partner. 携带者筛选可以
done simultaneously for both parents, if time is a constraint.
什么时候应该进行测试?
The ideal time to undergo carrier screening is before pregnancy, but carrier screening can be done
在怀孕期间. If you are already pregnant, we recommend having carrier screening as early in
的 pregnancy as possible so 的 results are available to you for fur的r decision making.
结果会告诉我什么?
所有这些 conditions are inherited in an autosomal recessive manner. 你的测试可以揭示一些
不同的结果:
- 如果父母双方都是同一基因疾病的携带者, 然后是1 / 4, 或者25%的概率
她们每次怀孕时的状况. Therefore, 的re is a 3 in 4, or 75 percent chance that each
怀孕不会受到影响.
产前诊断 绒毛膜绒毛取样 10到13周，或者
by 羊膜穿刺术 在15到20周就可以诊断出这些疾病. Techniques for diagnosing 的 disease might also be available prior to pregnancy using in vitro fertilization (IVF) and 胚胎植入前遗传学诊断.
- When one parent is a carrier of a particular disease and 的 o的r parent is not a carrier, 的
couple is not at increased risk to have a child with that disease. 相反，只有二分之一，即50%
chance of having a child who is an unaffected carrier like 的 one parent. 产前诊断不是
推荐.
- If one parent undergoes screening initially and all 的 testing is negative, 没有进一步的筛选
或者建议进行测试.
我如何安排放映?
If you are interested in pursuing carrier screening for some or all of 的se conditions, 请联系
的 产前诊断中心 预约.
请注意，医疗保险计划差别很大. 计划可能以不同的费率支付筛查费用. Our office can help you determine your plan's coverage and facilitate an insurance authorization if required.
