Ingvoldstad Malmgren Charlotta, Iwarsson Erik, Juth Niklas, Lindgren Peter
Centrum för fostermedicin - Stockholm, Sweden - Stockholm, Sweden.
Klinisk Genetik, Karolinska Universitetssjukhuset - Stockholm, Sweden Klinisk Genetik, Karolinska Universitetssjukhuset - Stockholm, Sweden.
Lakartidningen. 2017 May 2;114:EHTE.
NIPT - implentation, counselling and ethical issues It is today possible to analyze cell-free fetal DNA from a blood sample from the pregnant woman, i.e. non-invasive prenatal testing, NIPT. Thus, by a simple blood test from the mother you can detect trisomy 13, 18 and 21 in the fetus with high accuracy. However, NIPT is not a diagnostic test and a positive result should be confirmed by an invasive test, like chorionic villus sampling or amniocentesis. There are national guidelines from the Swedish Society of Obstetrics and Gynaecology (SFOG) on how to implement and use NIPT for trisomies in the Swedish health care. As NIPT is only a blood test there is a risk that it is seen by the expectant parents as a routine test or as a recommendation from the health care. Pre-test counselling is therefore of great importance to enable informed choice.
无创产前检测——实施、咨询与伦理问题 如今，可以从孕妇的血液样本中分析游离胎儿DNA，即无创产前检测（NIPT）。因此，通过对母亲进行简单的血液检测，就能高精度地检测出胎儿的13三体、18三体和21三体。然而，NIPT并非诊断性检测，阳性结果应由侵入性检测（如绒毛取样或羊膜穿刺术）予以确认。瑞典妇产科学会（SFOG）制定了国家指南，指导在瑞典医疗保健中如何实施和使用NIPT来检测三体综合征。由于NIPT只是一项血液检测，存在被准父母视为常规检测或医疗保健建议的风险。因此，检测前咨询对于实现知情选择至关重要。
