Question

Anna is a 29-year-old G2P1 who has just had a 20-week routine anatomy ultrasound. The physician informed her that there were some “soft markers” for Down syndrome and that genetic amniocentesis is available if she wants to have it. Please answer all questions

Anna asks if the ultrasound shows that the fetus has Down syndrome. How can the nurse explain the “soft markers” for Down syndrome?

What counseling should Anna receive about amniocentesis?

Anna decided to go home and discuss the findings with her family. She ultimately decided to have genetic amniocentesis and is back today for that appointment. What are the nursing implications of genetic amniocentesis?

The results of the amniocentesis show trisomy 21. After genetic counseling, Anna chooses to continue the pregnancy. How can the nurse help Anna at this time in her pregnancy?

Answer 1

1. Soft markers

There are markers for vital fetal structural deformities consisting of the first type and the second type. The second type of markers are known as 'soft markers" which are vague, often short-lived, and can be easily identified in the course of second-trimester ultrasound. Eg; the presence of a hard fold at the back of the neck.

2. Counseling about amniocentesis.

• Assure her that genetic amniocentesis is done to rule out down syndrome.
• Prepare her to be calm by providing psychological support.