侵入性产前检测,诊断和堕胎的趋势 对于胎儿积症
Elizabeth Arruda1, Jamison Lee2, Kayla Shine1
1College of Medicine, Medical University of South Carolina, Charleston, South Carolina.
American journal of perinatology
|April 30, 2025
概括
无细胞DNA (cfDNA) 查已经减少了侵入性产前检测和转移的指示. 异常cfDNA结果导致早期诊断和堕胎,但确认通常发生在第二个三个月的晚期.
科学领域:
- 产科和妇科 产科和妇科
- 产前诊断 在产前诊断
- 遗传学 遗传学 是一个
背景情况:
- 在例行产前护理中引入无细胞DNA (cfDNA) 查,改变了胎儿形症的诊断途径.
- 自cfDNA实施以来,了解指示,诊断产量和诊断和堕胎时间的趋势至关重要.
研究的目的:
- 评估cfDNA查对产前测试对形积分症的影响.
- 分析指示的趋势,诊断产量,以及诊断和终止怀孕的时间.
主要方法:
- 从2010年至2022年对入侵性产前诊断程序的观察后期研究.
- 评估临床变量,包括妊娠年龄,指示,结果和妊娠结果.
- 描述性统计数据以描述患者样本的特征.
主要成果:
- 侵袭性手术在cfDNA引入后显著减少,症状从较晚的孕产妇年龄转移到异常超声检查结果.
- 异常的cfDNA查与早期的诊断测试 (15.3 vs. 17.8周) 和更高的形积分病检测率 (60.4% vs. 13.2%) 有关.
- 尽管较早的cfDNA查,诊断和流产形性经常发生在第二个三个月 (15.5vs19.3周的流产).
结论:
- cfDNA查减少了侵入性的产前诊断程序和改变了测试指示.
- 异常cfDNA查改善了诊断产量,并使早期诊断和确认后堕胎成为可能.
- 在许多地区,在妊娠年龄范围内及时诊断堕胎仍然存在挑战.
相关概念视频
Nondisjunction
3.6K
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...
3.6K
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
Oogenesis
63.1K
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...
63.1K
Meiosis vs. Mitosis
50.5K
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...
50.5K


