Effects of neonatal screening for cystic fibrosis on reproduction, attitudes toward reproductive behaviour and genetic knowledge.

Acta Universitatis Carolinae. Medica Pub Date : 1990-01-01
J E Dankert-Roelse, K Knol, L P ten Kate
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Abstract

An evaluation was carried out into whether neonatal screening for Cystic Fibrosis could potentially prevent the birth of more affected children in the same family. Although CF was detected in more than 50% within the first year of life in those cases where a diagnosis was made on clinical symptoms, in these families 10 children -- among whom two with CF -- were born prior to the CF diagnosis. With neonatal screening, no pregnancies were started before the CF-diagnosis. No differences were found in attitudes toward further reproduction and understanding of important genetic facts. Although prenatal diagnosis was not yet possible at the time of the study, approximately 50% of the parents showed a positive attitude toward this option. Minimizing the delay in diagnosis by neonatal screening, together with the availability of prenatal diagnosis may lead to a significant reduction in subsequent births of CF cases.

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新生儿囊性纤维化筛查对生殖、生殖行为态度和遗传知识的影响。
对新生儿囊性纤维化筛查是否能潜在地预防同一家庭中更多受影响的孩子的出生进行了评估。虽然在那些根据临床症状做出诊断的病例中,有超过50%的人在出生后一年内被检测到CF,但在这些家庭中,有10个孩子(其中两个患有CF)是在CF诊断之前出生的。通过新生儿筛查,在cf诊断之前没有怀孕。在对进一步繁殖的态度和对重要遗传事实的理解方面没有发现差异。虽然产前诊断在研究时还不可能,但大约50%的父母对这一选择持积极态度。通过新生儿筛查尽量减少诊断延误,加上产前诊断的可用性,可能会显著减少CF病例的后续出生。
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