Embryonic and Fetal Development
What is the first trimester?
Mendelian, Multifactorial, Non-Mendelian
What are patterns of inheritance?
NIPT (non-invasive pre-genetic testing)
What is a maternal blood test done in the first trimester?
Fetal movement >3-6 in an hour.
2 fetal heart rates accelerations above baseline 15x15, within 20 minutes
What is reassuring?
Iron, Calcium, Magnesium, Sodium, Potassium, Zinc, Folic Acid
What is prenatal vitamins?
A mutation is present on both autosomal gene copies...Both parents must be carriers
What is autosomal recessive?
Triple/Quad Screen/Multiple Marker Screen
What is a maternal blood test done between 16-18 weeks?
What is a non-stress test?
Fetus has not met monitoring parameters
What is Non-reassuring?
25 -35 lbs.
What is normal pregnancy weight gain?
Females pass it on to all offspring regardless of gender, Males to not pass it on to offspring
What is Mitochondrial?
Spina Bifida
What is a neural tube defect?
Gross body movements, fetal tone, breathing movements, amniotic fluid pockets, non-stress test
What is a Biophysical Profile (BPP)?
VEAL CHOP
What is Variable-cord compression, Early-head compression, Accel-ok, Late-placental insufficiency?
Clay, soil, ice chips
What is PICA?
There is a common ancestor, increase in parents carrying the same gene mutations
What is consanguinity?
Prenatal test completed between 9-12 weeks to diagnose genetic & chromosomal abnormalities
What is CVS (Chorionic Villi Sampling)?
Dried blood spot test
What is a PKU test?
I- Normal, II- Indeterminate, III- Abnormal
What are NICHD categories?
Sushi, lunch meat, cat litter, tuna, soft cheese
What are things to avoid during pregnancy?
One allele is required to contain a mutation, located on an autosomal chromosome
What is autosomal dominant?
Prenatal test done between 14-18 weeks for genetic analysis, L/S ratio
What is an amniocentesis?
Measures pre- and post ductal O2 saturation
What is pulse oximetry?
Frequency, duration, intensity, resting tone
What is uterine activity?