Clinical and Molecular Genetics, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, UK; Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK.
Best Pract Res Clin Obstet Gynaecol. 2014 Apr;28(3):453-66. doi: 10.1016/j.bpobgyn.2014.01.002. Epub 2014 Jan 18.
Sonographic diagnosis of fetal abnormalities is based on the recognition of sonographic patterns associated with structural abnormalities. Although diagnosis in some situations, such as neural tube defects, gastroschisis, and omphalocoele, can be straightforward, in many situations, the constellation of fetal abnormalities suggest an underlying chromosomal or genetic cause. In these situations, invasive testing is needed to provide the information required to make a definitive diagnosis, and thus accurately counsel parents. Since the identification of cell-free fetal DNA in maternal plasma, the potential for non-invasive prenatal diagnosis is increasingly becoming possible. In this chapter, the current role and future potential of non-invasive prenatal diagnosis, combined with new molecular techniques as an aid to sonographic diagnosis, will be discussed.
超声诊断胎儿异常是基于识别与结构异常相关的超声模式。虽然在某些情况下，如神经管缺陷、腹裂和脐膨出，诊断可以直接进行，但在许多情况下，胎儿异常的组合提示存在潜在的染色体或遗传原因。在这些情况下，需要进行有创性检查，以提供做出明确诊断所需的信息，从而准确地为父母提供咨询。自从在母体血浆中发现游离胎儿 DNA 以来，非侵入性产前诊断的可能性越来越大。在本章中，将讨论非侵入性产前诊断的当前作用和未来潜力，以及作为超声诊断辅助手段的新分子技术。
