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阿拉伯人群中遗传性疾病的产前检测

Prenatal testing for genetic disorders among Arabs.

作者信息

Zlotogora J, Reshef N

机构信息

The Rosa and David Orzen Human Genetics Clinic, Department of Human Genetics, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.

出版信息

Prenat Diagn. 1998 Mar;18(3):219-24. doi: 10.1002/(sici)1097-0223(199803)18:3<219::aid-pd241>3.0.co;2-x.

DOI:10.1002/(sici)1097-0223(199803)18:3<219::aid-pd241>3.0.co;2-x
PMID:9556038
Abstract

Since, at least in the near future, prenatal testing and abortion of affected fetuses will remain the main way of the prevention of genetic diseases, knowledge about the way of its acceptance in different cultures is important. The Israeli population includes two major groups: Jewish and Arabs, but while there is wide experience about the Jewish population and its attitude towards prenatal testing, little is known about the Arab population. This knowledge is particularly important, since genetic disorders are relatively frequent in the Arab world (Teebi and Farag, 1997). From 1992 to 1996, 816 prenatal tests were performed in our department on Arab women [143 chorionic villus sampling (CVS) procedures and 673 amniocenteses]. The indication for an early prenatal test was a high risk for a monogenic disorder in 140 out of the 146 tests performed (143 CVS procedures and three early amniocenteses). In 26 cases, the fetus was found to be affected and early abortion was chosen by the couple in 25 cases (96 per cent). The 670 late prenatal tests were done for various reasons including monogenic disorders (13 per cent), increased risk because of a previous child affected with Down syndrome or a neural tube defect (4.8 per cent), and an increased risk for a chromosomal aberration (78 per cent). In 31 cases of a late prenatal test, the fetus was found to be affected and only 21 couples (70 per cent) opted for an abortion. The major reason for this observation is probably related to religious and cultural factors. Since Arab women do not wish to have prenatal testing for only knowledge or reassurance, these factors should be taken into consideration during pre-amniocentesis counselling.

摘要

因为,至少在不久的将来,对患病胎儿进行产前检测和流产仍将是预防遗传疾病的主要方式,所以了解不同文化中对其接受的方式很重要。以色列人口包括两个主要群体:犹太人和阿拉伯人,然而,虽然对犹太人群体及其对产前检测的态度有广泛的了解,但对阿拉伯人群体却知之甚少。这一知识尤为重要,因为遗传疾病在阿拉伯世界相对常见(提比和法拉格,1997年)。1992年至1996年,我们科室对阿拉伯女性进行了816次产前检测[143例绒毛取样(CVS)操作和673例羊膜穿刺术]。早期产前检测的指征是在146例检测(143例CVS操作和3例早期羊膜穿刺术)中有140例存在单基因疾病的高风险。在26例中,发现胎儿患病,25例(96%)夫妇选择了早期流产。670例晚期产前检测因各种原因进行,包括单基因疾病(13%)、因先前有患唐氏综合征或神经管缺陷的孩子而风险增加(4.8%)以及染色体畸变风险增加(78%)。在31例晚期产前检测中,发现胎儿患病,只有21对夫妇(70%)选择了流产。这一观察结果的主要原因可能与宗教和文化因素有关。由于阿拉伯女性不希望仅为了获取知识或安心而进行产前检测,所以在羊膜穿刺术前咨询时应考虑这些因素。

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引用本文的文献

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Decision-making on terminating pregnancy for Muslim Arab women pregnant with fetuses with congenital anomalies: maternal affect and doctor-patient communication.患有先天性异常胎儿的阿拉伯穆斯林孕妇终止妊娠的决策:产妇情感与医患沟通
Reprod Health. 2017 Apr 4;14(1):49. doi: 10.1186/s12978-017-0312-7.
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Krabbe Disease in the Arab World.阿拉伯世界的克拉贝病。
J Pediatr Genet. 2015 Mar;4(1):1-8. doi: 10.1055/s-0035-1554981.