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: (Required.)

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: (Required.)

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: (Required.)

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: (Required.)

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: (Required.)

a. CMA

b. Karyotyping

c. QF-PCR