Journal club MCQ May 2020

Learning Objectives:

To assess the utility of cfDNA testing in pregnancies with increased fetal nuchal translucency (NT)

Question Title

* 1. In the local management protocol, patients with NT>99th percentile were always offered an invasive procedure to perform:

a. QF-PCR and CMA

b. Karyotype

c. QF-PCF and, if negative, CMA

Question Title

* 2. According to the local protocol in these high risk pregnancies the fetal echocardiography is performed:

a. Early (13-15 weeks) AND at 21 weeks

b. Only at the time of the anomaly scan

c. It is not performed if the genetic test is negative

Question Title

* 3. Of the 84 genetic anomalies identified in the studied population, the percentage of those that would have been missed by cfDNA testing (targeted and extended) was:

a. 5-8%

b. 12-19%

c. 0-2%

Question Title

* 4. Of the 142 fetuses with no genetic anomalies identified the early anomaly scan and fetal echocardiography identified structural defects in:

a. 30.7 % of the fetuses

b. 5.5 % of the fetuses

c. 10.6% of the fetuses

Question Title

* 5. In the current clinical practice it is well established that in fetuses with increase NT, genetic testing should be performed by:

a. CMA

b. Karyotyping

c. QF-PCR