Gagnon Alain, Audibert Francois
University of British Columbia, Vancouver, British Columbia, Canada.
Université de Montréal, Montréal, Québec, Canada.
Best Pract Res Clin Obstet Gynaecol. 2014 Feb;28(2):285-94. doi: 10.1016/j.bpobgyn.2013.12.010. Epub 2013 Dec 31.
Prenatal screening for aneuploidy has changed significantly over the last 30 years, from being age-based to maternal serum and ultrasound based techniques. Multiple pregnancies present particular challenges with regards to screening as serum-based screening techniques are influenced by all feti while ultrasound-based techniques can be fetus specific. Tests currently available tend to not perform as well in multiple compared to singleton pregnancies. Considerations must be given to these variations when discussing and performing screening for aneuploidy in this situation. Prenatal invasive diagnosis techniques in multiple pregnancies bring their own challenges from a technical and counselling point of view, in particular with regards to sampling error, mapping and assignment of results and management of abnormal results. This review addresses these particular challenges and provides information to facilitate care.
在过去30年里，非整倍体的产前筛查发生了显著变化，从基于年龄的筛查转变为基于母体血清和超声的技术。多胎妊娠在筛查方面存在特殊挑战，因为基于血清的筛查技术会受到所有胎儿的影响，而基于超声的技术可能是针对特定胎儿的。与单胎妊娠相比，目前可用的检测方法在多胎妊娠中的表现往往不佳。在这种情况下讨论和进行非整倍体筛查时，必须考虑这些差异。多胎妊娠的产前侵入性诊断技术从技术和咨询的角度带来了自身的挑战，特别是在采样误差、结果的定位和分配以及异常结果的管理方面。本综述探讨了这些特殊挑战，并提供信息以促进护理。
