Methods 1

Question 1

Flow cytometry

Answer 1

uses cell fluorescence and light scattering to sort cells by size and internal complexity

surface markers, intracellular factors, secreted factors, DNA content

Question 2

DNA Microarray

Answer 2

RNA: gene expression
DNA: looking for insertions/deletions

Banding: 3 is normal, 4 is a duplication, 2 is a deletion

Question 3

PreImplantation genetic diagnosis

Answer 3

IVF, cell tested during 8-16 cell stage of embryo

Question 4

Maternal blood tests

Answer 4

maternal serum
cell free DNA
fetal cell sorting

Question 5

AFP

Answer 5

21: d
18: d
NTD: increase

Question 6

hCG

Answer 6

21: i
18: d

Question 7

PAPP-a

Answer 7

21: d 18:d

Question 8

cfDNA

Answer 8

21: i
18: i

Question 9

amino acid disorders

Answer 9

PKU, homocystinuria, MCAD

Question 10

Phenylketonuria

Answer 10

low phenylalanin hydroxylase or BH4

AR

intelectual disability, growth retardation, seizures, musty body odor

treat: diet

Question 11

Maple Syrup Urine Disease

Answer 11

blocked degradation of branched amino acids (alpha ketoacid dehydrogenase B1)

developmental delay, fluctuating neurological decomp, vomiting

AR

diet

Question 12

MCAD defeciency

Answer 12

medium chain acyl coa dehydrogenase

precipitated by fasting or illness

diet