An older mother (age 41) is worried about having a baby with birth defects. She wants to get tested so she can be prepared for the outcome. Which of the following tests should the clinic nurse prepare the client for? Select all that apply

Question

A) A blood test (circulating cell-free DNA) will tell if the baby is mentally retarded.
B) Abdominal x-ray can detect skeletal abnormalities.
C) Withdrawing a sample of amniotic fluid will reveal any chromosomal defects.
D) Ultrasonography will reveal any single-gene disorders like fragile X syndrome.
E) PET scanning to see if there are any areas of accelerated growth of tissue.

Answer 1

Ans: A, C
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During pregnancy, there are cf-DNA fragments from both the mother and fetus in maternal circulation. It is possible to analyze cf-DNA from maternal blood to detect common fetal trisomies such as Down syndrome as early as 10 weeks. Amniocentesis involves the withdrawal of a sample of amniotic fluid from the pregnant uterus. The procedure is useful in women older than 35 years of age, who have an increased risk of giving birth to an infant with Down syndrome, and in parents who have another child with chromosomal abnormalities. Ultrasonography allows the visualization of body structures, revealing such defects as skeletal malformations. It is only able to identify chromosomal disorders, genetic disorders, and neural tube defects by way of their anatomic effects. PET scanning is used to assess for cancer metastasis or inflammatory diseases. It is not used in pregnancy testing.