Pregnancy

Question 1

What is a carrier testing and when is it done

Answer 1

Done before pregnancy, test if someone is a carrier for an altered Gene

Question 2

What is what is cell free fetal DNA analysis

Answer 2

Blood sample from Mom is taken and fetal DNA separated out to determine likelihood of disorders

Question 3

Newborn testing

Answer 3

Done right after birth, heel prick screening, hearing and pulsometer

Question 4

NT ultrasound

Answer 4

First trimester, uses sound waves to create image and measures fluid behind neck. Increase fluid indicates chromosomal disorder

Question 5

Anatomy ultrasound

Answer 5

Done anytime but usually 18 to 20 weeks, he sees if proportions and limbs are correct

Question 6

Amniocentesis

Answer 6

Removes amniotic fluid from around uterus using a needle. Done 15 to 20 weeks, determines chromosomal and genetic disorders and neural tube defects

Question 7

Chronic villus sampling

Answer 7

Remove cell of placenta that was formed from fertilized egg, tested for genetic disease, 10 to 14 weeks

Question 8

IVF

Answer 8

Remove eggs and stimulate so mature and fertilize with male sperm, place back into room

Question 9

Pgd

Answer 9

Uses IVF to remove eggs, grow embryo, and get isolated cells for evaluation, before pregnancy

Question 10

Single Gene disorders

Answer 10

Mutations in DNA that cause protein to not carry out job, recessive dominant sex linked

Question 11

Examples of single Gene

Answer 11

Duchenne mauscular dystrophy, cystic fibrosis, Huntington’s

Question 12

Combo of mutations and environmental factors

Answer 12

Multifactorial

Question 13

Multifactorial example

Answer 13

Alzheimer’s

Question 14

Missing or extra copies of chromosomes

Answer 14

Chromosomal

Question 15

Chromosomal example

Answer 15

Down syndrome

Question 16

Mutations and non-chromosomal DNA in mitochondria, past mother to child

Answer 16

Mitochondrial

Question 17

Mitochondrial example

Answer 17

Lieber hereditary optic neuropathy

Question 18

Supports corpus huteum, produced by placenta

Answer 18

HGC

Question 19

Establish placenta, growth of blood vessels for womb, strengthen muscles for labor

Answer 19

Progesterone

Question 20

Helps uterus and fetal organs develop

Answer 20

Oestrogen

Question 21

Produces breast milk

Answer 21

Prolactin

Question 22

Prevents premature birth, relaxes blood vessels and joints to lengthen cervix

Answer 22

Relaxin

Question 23

Stimulates contractions

Answer 23

Oxytocin

Question 24

Vitamin b, prevents birth defects and heart spine brain and mouth

Answer 24

Folic acid

Question 25

Makes hemoglobin

Answer 25

Iron

Question 26

Helps babies bones heart teeth muscles and nerves develop

Answer 26

Calcium

Question 27

Helps the body absorb calcium, protects from infection

Answer 27

Vitamin d

Question 28

Fat that helps babies brains and eyes develop

Answer 28

DHA

Question 29

Makes thyroid hormones that help baby store food energy, helps nervous system form

Answer 29

Iodine

Question 30

Glucose 1 hour premilary screening, drink glucose and see blood Glucose level

Answer 30

Glucose challenge test

Question 31

Determines whether or not you have gestational diabetes, draw blood three times over 3 hours after drinking glucose

Answer 31

Glucose tolerance test