Department of Women's Health, University Women's Hospital, Tuebingen, Germany,
Department of Women's Health, University Women's Hospital, Tuebingen, Germany.
Fetal Diagn Ther. 2020;47(11):841-852. doi: 10.1159/000510069. Epub 2020 Sep 2.
The aims of the study were to assess the false-positive and uninformative test rate with first trimester cell-free DNA (cfDNA) screening for common trisomies and microdeletion 22q11.2 (22q11.2DS) and to examine women's attitudes toward such an approach.
This is a prospective study at the Prenatal Medicine Department of the University of Tübingen, Germany, at 11-13 weeks. In all pregnancies, a detailed ultrasound examination was carried out, followed by a cfDNA analysis for common trisomies and 22q11.2DS. In cases where the cfDNA analysis indicated 22q11.2DS, invasive prenatal diagnostic testing and parental testing were performed. After delivery, a detailed neonatal clinical examination was carried out including further genetic testing. Prior to counselling about the study, we asked the pregnant women who were potentially eligible for the study to anonymously report on their knowledge about 22q11.2DS.
A total of 1,127 pregnancies were included in the final analysis of the study. The first cfDNA test was uninformative in 15 (1.33%) pregnancies. In 10 (0.89%) cases, the test remained uninformative, even after the second blood sample. There were 3 (0.27%) cases with a positive cfDNA test for 22q11.2DS. In all, 983 women returned the anonymous questionnaire prior to study participation. Only 80 (8.1%) women responded that they felt familiar or very familiar with 22q11.2DS.
The addition of 22q11.2DS in first trimester cfDNA screening for common trisomies is feasible. The uninformative test rate for common trisomies and 22q11.2DS is 0.9%, and the false-positive rate for 22q11.2DS is 0.3%. Awareness and education around 22q11.2DS should be improved.
本研究旨在评估早孕期游离胎儿 DNA（cfDNA）筛查常见三体和微缺失 22q11.2（22q11.2DS）的假阳性和无信息测试率，并研究女性对这种方法的态度。
这是德国图宾根大学产前医学系的一项前瞻性研究，在 11-13 周进行。在所有妊娠中，均进行详细的超声检查，然后进行 cfDNA 分析以筛查常见三体和 22q11.2DS。如果 cfDNA 分析提示 22q11.2DS，则进行侵入性产前诊断检测和父母检测。分娩后，对新生儿进行详细的临床检查，包括进一步的遗传检测。在对研究进行咨询之前，我们要求有资格参加研究的孕妇匿名报告她们对 22q11.2DS 的了解程度。
共有 1127 例妊娠纳入最终分析。15 例（1.33%）妊娠的首次 cfDNA 检测结果无信息。在 10 例（0.89%）中，即使进行了第二次采血，检测结果仍无信息。有 3 例（0.27%）的 22q11.2DS 的 cfDNA 检测呈阳性。共有 983 名女性在参与研究前返回了匿名问卷。只有 80 名（8.1%）女性表示她们对 22q11.2DS 感到熟悉或非常熟悉。
在常见三体的早孕期 cfDNA 筛查中加入 22q11.2DS 是可行的。常见三体和 22q11.2DS 的无信息测试率为 0.9%，22q11.2DS 的假阳性率为 0.3%。应提高对 22q11.2DS 的认识和教育。
