genetics: pregnancy and early life

Question 1

what are some examples of non-invasive prenatal testing?

Answer 1

through free foetal DNA in maternal circulation
-sex determination
-trisomy testing

Question 2

what is confined placental mosaicism?

Answer 2

when the tissue of the placenta has an abnormal number of chromosomes, but the foetus itself has a normal number of chromosomes.

Question 3

what are some examples of invasive testing?

Answer 3

chromosome microarray
PCR/sequencing
next generation sequencing

Question 4

what are the pros to chromosome microarray?

Answer 4

high res
technically easier
rapid

Question 5

what are the cons to chromosome microarray?

Answer 5

also finds polymorphisms
may make incidental findings

Question 6

when is chromosome microarray used?

Answer 6

high risk of trisomy on screening
foetal abnormality on scanning
parent has balanced chromosome rearrangement

Question 7

what are some differential diagnoses for a floppy baby?

Answer 7

central (most common)
spinal cord
anterior horn cell
neuromuscular junction
muscle
peripheral nerves
metabolic myopathies

Question 8

what things do you rapidly check for in a floppy baby?

Answer 8

myotonic dystrophy
prader-willi syndrome
spinal muscular atrophy