Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, carrier screening is becoming increasingly offered to individuals/couples in the general population for a wider range of genetic conditions. Despite advances in genomic testing technology and greater availability of carrier screening panels, there is no consensus around which types of conditions to include in carrier screening panels. This study sought to identify which types of conditions parents of children with a genetic condition believe should be included in carrier screening. Participants (n = 150) were recruited through Royal Children's Hospital (RCH) Melbourne outpatient clinics, the Genetic Support Network of Victoria (GSNV) and a databank of children with hearing loss (VicCHILD). This study found that the majority of participants support offering carrier screening for: neuromuscular conditions (n = 128/134, 95.5%), early fatal neurodegenerative conditions (n = 130/141, 92.2%), chronic multi-system disorders (n = 124/135, 91.9%), conditions which cause intellectual disability (n = 128/139, 92.1%) and treatable metabolic conditions (n = 120/138, 87.0%). Views towards the inclusion of non-syndromic hearing loss (n = 88/135, 65.2%) and preventable adult-onset conditions (n = 75/135, 55.6%) were more mixed. Most participants indicated that they would use reproductive options to avoid having a child with the more clinically severe conditions, but most would not do so for clinically milder conditions. A recurring association was observed between participants’ views towards carrier screening and their lived experience of having a child with a genetic condition.

生殖遗传携带者筛查确定了生育常染色体和 X 连锁隐性遗传疾病孩子的机会增加的夫妇。最初仅针对具有高先验性的人提供单一条件风险，携带者筛查越来越多地向普通人群中的个人/夫妇提供更广泛的遗传条件。尽管基因组测试技术取得了进步，并且携带者筛选小组的可用性更高，但对于携带者筛选小组中应包括哪些类型的条件尚未达成共识。本研究旨在确定遗传病儿童的父母认为哪些类型的疾病应该包括在携带者筛查中。参与者 (n = 150) 通过墨尔本皇家儿童医院 (RCH) 门诊、维多利亚遗传支持网络 (GSNV) 和听力损失儿童数据库 (VicCHILD) 招募。这项研究发现，大多数参与者支持提供以下载体筛查：神经肌肉疾病（n = 128/134，95.5%），早期致命的神经退行性疾病 (n = 130/141, 92.2%)、慢性多系统疾病 (n = 124/135, 91.9%)、导致智力残疾的疾病 (n = 128/139, 92.1%) 和可治疗的代谢疾病(n = 120/138, 87.0%)。对包括非综合征性听力损失（n = 88/135, 65.2%）和可预防的成人发病条件（n = 75/135, 55.6%）的看法更加复杂。大多数参与者表示，他们将使用生殖选择来避免生出患有临床上更严重的疾病的孩子，但大多数人不会在临床上较轻的情况下这样做。在参与者对携带者筛查的看法与他们生育患有遗传疾病的孩子的生活经历之间观察到反复出现的关联。导致智力残疾的疾病 (n = 128/139, 92.1%) 和可治疗的代谢疾病 (n = 120/138, 87.0%)。对包括非综合征性听力损失（n = 88/135, 65.2%）和可预防的成人发病条件（n = 75/135, 55.6%）的看法更加复杂。大多数参与者表示，他们将使用生殖选择来避免生出患有临床上更严重的疾病的孩子，但大多数人不会在临床上较轻的情况下这样做。在参与者对携带者筛查的看法与他们生育患有遗传疾病的孩子的生活经历之间观察到反复出现的关联。导致智力残疾的疾病 (n = 128/139, 92.1%) 和可治疗的代谢疾病 (n = 120/138, 87.0%)。对包括非综合征性听力损失（n = 88/135, 65.2%）和可预防的成人发病条件（n = 75/135, 55.6%）的看法更加复杂。大多数参与者表示，他们将使用生殖选择来避免生出患有临床上更严重的疾病的孩子，但大多数人不会在临床上较轻的情况下这样做。在参与者对携带者筛查的看法与他们生育患有遗传疾病的孩子的生活经历之间观察到反复出现的关联。2%）和可预防的成人发病条件（n = 75/135, 55.6%）更为复杂。大多数参与者表示，他们将使用生殖选择来避免生出患有临床上更严重的疾病的孩子，但大多数人不会在临床上较轻的情况下这样做。在参与者对携带者筛查的看法与他们生育患有遗传疾病的孩子的生活经历之间观察到反复出现的关联。2%）和可预防的成人发病条件（n = 75/135, 55.6%）更为复杂。大多数参与者表示，他们将使用生殖选择来避免生出患有临床上更严重的疾病的孩子，但大多数人不会在临床上较轻的情况下这样做。在参与者对携带者筛查的看法与他们生育患有遗传疾病的孩子的生活经历之间观察到反复出现的关联。