女儿
遗传条件
遗传咨询
怀孕
医学
遗传诊断
载波信号
儿科
心理学
遗传学
生物
电信
计算机科学
传输(电信)
进化生物学
基因
摘要
The unexpected diagnosis of a severe autosomal recessive condition in a child is often the first moment that parents become aware of their risk of having a child with the condition. This was the case for Rachael and Jonathan Casella; spinal muscular atrophy was diagnosed in their daughter Mackenzie, who died at the age of 7 months. Carrier testing for recessive conditions is increasingly available to inform parents, even before pregnancy, of their risk of having a child with a genetic condition. Mackenzie's parents declared a mission to raise awareness and make carrier testing available to all prospective parents to . . .
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