Department of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Pediatr Blood Cancer. 2020 May;67(5):e28227. doi: 10.1002/pbc.28227. Epub 2020 Feb 17.
Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy associated with morbidity and mortality. We sought to understand family planning intentions of parents of young children with SCD including the awareness of three reproductive options (adoption, in vitro fertilization with egg/sperm donation [IVFD], in vitro fertilization [IVF] with preimplantation genetic testing [IVF/PGT]) to decrease the risk of having a child with SCD.
Qualitative, semistructured, one-on-one interviews with 18 female parents of young children with SCD at an urban, tertiary care pediatric hospital.
Half of the parents knew their hemoglobinopathy status or their partner's status before pregnancy. Eight parents chose to have no further children because of fear of SCD in another child. Awareness of reproductive options prior to study enrollment was limited. After brief introduction, 7 parents would consider adoption, 2 IVFD, and 10 IVF/PGT. Desire for a biological child, fear of parental jealousy, ethical or religious considerations, and cost affected the acceptability of these options. Participants universally wanted information about reproductive options available to others prior to pregnancy.
There is limited awareness and variable acceptability of alternative reproductive options available to decrease the risk of a future child having SCD. Participants universally endorsed the need for education regarding hemoglobinopathy status, SCD, and reproductive options prior to pregnancy because for many participants having a child with SCD affected their reproductive intentions. Educational interventions to ensure informed reproductive decision making should be sensitive to desires for a biological child, and ethical and financial considerations.
镰状细胞病（SCD）是一种常染色体隐性血红蛋白病，与发病率和死亡率有关。我们试图了解患有 SCD 的幼儿的父母的计划生育意向，包括对三种生殖选择（收养、体外受精加卵/精子捐赠[IVFD]、体外受精加植入前遗传检测[IVF/PGT]）的认识，以降低生育 SCD 患儿的风险。
在一家城市三级儿科医院对 18 名患有 SCD 的幼儿的女性父母进行了定性、半结构式、一对一的访谈。
一半的父母在怀孕前知道自己的血红蛋白病状况或伴侣的状况。有 8 位父母因为担心另一个孩子患有 SCD 而选择不再要孩子。在研究入组前，对生殖选择的认识有限。在简要介绍后，有 7 位父母会考虑收养，2 位会考虑 IVFD，10 位会考虑 IVF/PGT。对亲生子女的渴望、对父母嫉妒的恐惧、伦理或宗教考虑以及费用影响了这些选择的可接受性。参与者普遍希望在怀孕前了解其他人可获得的生殖选择信息。
对可降低未来孩子患 SCD 风险的替代生殖选择的认识有限，接受程度也各不相同。参与者普遍认为在怀孕前需要接受有关血红蛋白病状况、SCD 和生殖选择的教育，因为对许多参与者来说，孩子患有 SCD 影响了他们的生育意愿。确保知情生殖决策的教育干预措施应考虑到对亲生子女的渴望以及伦理和经济方面的考虑。
