Pregnancy Flashcards
What is a carrier testing and when is it done
Done before pregnancy, test if someone is a carrier for an altered Gene
What is what is cell free fetal DNA analysis
Blood sample from Mom is taken and fetal DNA separated out to determine likelihood of disorders
Newborn testing
Done right after birth, heel prick screening, hearing and pulsometer
NT ultrasound
First trimester, uses sound waves to create image and measures fluid behind neck. Increase fluid indicates chromosomal disorder
Anatomy ultrasound
Done anytime but usually 18 to 20 weeks, he sees if proportions and limbs are correct
Amniocentesis
Removes amniotic fluid from around uterus using a needle. Done 15 to 20 weeks, determines chromosomal and genetic disorders and neural tube defects
Chronic villus sampling
Remove cell of placenta that was formed from fertilized egg, tested for genetic disease, 10 to 14 weeks
IVF
Remove eggs and stimulate so mature and fertilize with male sperm, place back into room
Pgd
Uses IVF to remove eggs, grow embryo, and get isolated cells for evaluation, before pregnancy
Single Gene disorders
Mutations in DNA that cause protein to not carry out job, recessive dominant sex linked
Examples of single Gene
Duchenne mauscular dystrophy, cystic fibrosis, Huntington’s
Combo of mutations and environmental factors
Multifactorial
Multifactorial example
Alzheimer’s
Missing or extra copies of chromosomes
Chromosomal
Chromosomal example
Down syndrome
Mutations and non-chromosomal DNA in mitochondria, past mother to child
Mitochondrial
Mitochondrial example
Lieber hereditary optic neuropathy
Supports corpus huteum, produced by placenta
HGC
Establish placenta, growth of blood vessels for womb, strengthen muscles for labor
Progesterone
Helps uterus and fetal organs develop
Oestrogen
Produces breast milk
Prolactin
Prevents premature birth, relaxes blood vessels and joints to lengthen cervix
Relaxin
Stimulates contractions
Oxytocin
Vitamin b, prevents birth defects and heart spine brain and mouth
Folic acid
Makes hemoglobin
Iron
Helps babies bones heart teeth muscles and nerves develop
Calcium
Helps the body absorb calcium, protects from infection
Vitamin d
Fat that helps babies brains and eyes develop
DHA
Makes thyroid hormones that help baby store food energy, helps nervous system form
Iodine
Glucose 1 hour premilary screening, drink glucose and see blood Glucose level
Glucose challenge test
Determines whether or not you have gestational diabetes, draw blood three times over 3 hours after drinking glucose
Glucose tolerance test
