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囊性纤维化筛查对遗传咨询影响的研究

Effect of screening for cystic fibrosis on the influence of genetic counseling.

作者信息

Dankert-Roelse J E, te Meerman G J, Knol K, ten Kate L P

机构信息

Department of Pediatrics, Groningen University Hospital, The Netherlands.

出版信息

Clin Genet. 1987 Oct;32(4):271-5. doi: 10.1111/j.1399-0004.1987.tb03311.x.

Abstract

We studied the influence of genetic counseling for cystic fibrosis on family planning, using neonatal screening, family size at time of diagnosis, and maternal age as possible determinants for reproductive behaviour. The expected number of children born to mothers of equal age and parity in the same period was approximated on the basis of population statistics. These numbers were compared to the numbers of children born in the study group after a CF diagnosis and information on the 25% recurrence risk were given. A 50.8% reduction in childbirth was found in the study group, although 77% of families had decided against further high-risk pregnancies. No statistically significant influence of neonatal screening could be demonstrated, but this may be due to the small number of families involved.

摘要

我们利用新生儿筛查、诊断时的家庭规模以及母亲年龄作为生殖行为的可能决定因素,研究了囊性纤维化遗传咨询对计划生育的影响。根据人口统计数据估算了同期年龄和胎次相同的母亲所生孩子的预期数量。将这些数字与研究组中确诊囊性纤维化后出生的孩子数量进行比较,并提供了25%的复发风险信息。研究组中分娩数量减少了50.8%,尽管77%的家庭已决定不再进行高风险妊娠。未发现新生儿筛查有统计学上的显著影响,但这可能是由于涉及的家庭数量较少。

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