Dankert-Roelse J E, Knol K, ten Kate L P
Department of Pediatrics, University of Groningen, The Netherlands.
Acta Univ Carol Med (Praha). 1990;36(1-4):99-101.
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.
针对新生儿囊性纤维化筛查是否有可能预防同一家族中更多患病儿童的出生进行了一项评估。尽管在那些根据临床症状确诊的病例中，超过50%的患儿在出生后第一年内被检测出患有囊性纤维化，但在这些家庭中，有10名儿童在囊性纤维化确诊之前出生，其中两名患有囊性纤维化。通过新生儿筛查，在囊性纤维化确诊之前没有怀孕情况发生。在对进一步生育的态度以及对重要遗传事实的理解方面未发现差异。尽管在研究时还无法进行产前诊断，但约50%的父母对这一选择持积极态度。通过新生儿筛查将诊断延迟降至最低，再加上产前诊断的可行性，可能会导致随后囊性纤维化病例的出生显著减少。
