Question

"A pregnant mother recently had an ultrasound that indicated massive defects in the formation of her unborn baby’s heart. Other oddities were noted in the spinal cord region, the kidneys, and the formation of the facial features. She had an amniocentesis to examine the baby’s karyotype, and it was noted that there was a deletion of a small piece of one chromosome. The doctors advised her that her that she would likely miscarry. The parents consult you as a genetic advisor on the likelihood that a future pregnancy would exhibit similar phenotypes. What advice do you give this couple?"

Answer 1

Answer:

There is a low probability that a future pregnancy would exhibit similar phenotypes since it probably was a germinative line mutation that affected that egg.

Explanation:

The malformations of the unborn child, probably are due to a mutation in the germ cell of any or both parents. Germline mutations are detectable changes in a sperm or egg that we can see when the fetus is growing, as malformations since the original germ cell that was mutated divided itself to give more mutated cells for all the different parts of the fetus.