继续怀孕的父母与唐氏综合征的产前护理,2003-2022年
Jonathan M Artal1,2, Lindsey Randall3,4, Sabina Rubeck5
1Stanford Law School, Stanford University, Stanford, California, USA.
American journal of medical genetics. Part A
|January 20, 2025
概括
当被诊断患有唐氏综合征时,父母仍然报告产前护理经验不佳. 尽管取得了一些改进,但遗憾和决策影响等负面相互作用仍然存在,这凸显了需要更好的支持策略的需要.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 父母的支持 父母的支持
背景情况:
- 从历史上看,接受唐氏综合征产前诊断的父母报告了与医疗保健提供者的负面经历.
- 以前的调查表明,医生经常表达同情心,并鼓励终止,影响父母的福祉.
研究的目的:
- 评估自2003年调查以来,家长对唐氏综合征产前护理的看法是否有所改善.
- 确定产前诊断经验中特定的不满和潜在的积极转变的领域.
主要方法:
- 对2003年以后生下氏综合征的孩子的父母进行了横截面调查.
- 该调查是由参与2003年原始研究的社区组织分发的.
主要成果:
- 与2003年相比,总体而言,父母对唐氏综合征产前医疗护理的不满仍然存在.
- 虽然一些子组报告了更积极的测试经验,但某些指标显示结果恶化.
- 大多数家长对提供者表达同情或试图影响他们的怀孕决定感到不满.
结论:
- 目前的干预措施并没有改善父母对唐氏综合征产前医疗支持的看法.
- 迫切需要新的策略来提高产前护理的质量和对未来父母的支持.
相关概念视频
Oogenesis
63.4K
In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
63.4K
Meiosis vs. Mitosis
52.5K
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
52.5K
Teratogenicity
2.3K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
2.3K
Meiosis I
192.9K
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
192.9K
Nondisjunction
3.7K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
3.7K
Preventive Healthcare Services
960
Preventive healthcare services keep people healthy via frequent check-ups, screening, and counseling. They primarily aid in disease prevention rather than treating an acute or chronic illness. Preventive treatment also keeps individuals productive and energetic, allowing them to work well into their retirement years. Examples of preventive care services include:
960


