Department of Obstetrics and Gynaecology, Academic Medical Center, Amsterdam, The Netherlands.
Prenat Diagn. 2010 Nov;30(11):1049-56. doi: 10.1002/pd.2609.
To determine expert consensus on which chromosomal abnormalities should and should not be detected in prenatal diagnosis, and for which abnormalities disagreement remains after structured discussion.
An expert panel of 24 prenatal experts (8 clinical cytogeneticists, 8 clinical geneticists and 8 obstetricians) rated 15 chromosomal abnormalities sampled from a nationwide study on rapid aneuploidy detection (RAD). In two individual anonymous rating rounds and one group meeting, the participants rated PRO or AGAINST detection and stated their main argument. The 15 chromosomal abnormalities were described in detail by a stylized vignette containing an obstetrical history, the indication for prenatal diagnosis and the range of possible outcomes of the chromosomal abnormality. Consensus was defined to be present if at least 80% of the experts agreed.
Consensus was reached in 12 out of 15 cases. In ten cases, there was agreement PRO detection and in two cases experts agreed AGAINST detection. At the end of the third round, dissensus remained on three abnormalities.
Experts largely agreed on detecting chromosomal abnormalities with severe consequences and AGAINST detection in case of irrelevant clinical consequences. For chromosomal abnormalities with mild or uncertain outcomes, dissensus remained. None of the currently available tests corresponds to these demands.
确定专家共识，即哪些染色体异常应该在产前诊断中检测，以及哪些异常在经过结构化讨论后仍存在分歧。
一个由 24 名产前专家（8 名临床细胞遗传学家、8 名临床遗传学家和 8 名产科医生）组成的专家小组对从全国范围内快速非整倍体检测（RAD）研究中抽取的 15 种染色体异常进行了评估。在两轮单独的匿名评估和一轮小组会议中，参与者对 PRO 或 AGAINST 检测进行了评估，并陈述了他们的主要论点。15 种染色体异常通过包含产科病史、产前诊断指征和染色体异常可能结果范围的简要描述进行了详细描述。如果至少 80%的专家达成一致，则认为存在共识。
在 15 个案例中的 12 个案例中达成了共识。在 10 个案例中，专家们同意 PRO 检测，在 2 个案例中专家们同意 AGAINST 检测。在第三轮结束时，仍有三个异常存在分歧。
专家们在检测具有严重后果的染色体异常和在无相关临床后果的情况下检测 AGAINST 方面基本达成一致。对于具有轻微或不确定结果的染色体异常，仍存在分歧。目前尚无任何测试符合这些要求。
