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Prenatal (GENC)

UAMS Prenatal Diagnosis for Genetic Counseling

TermImportance
Risk for Amniocentesis for pregnancy complication 1/300
Risk for PUBS for pregnancy complication 3-5%
Risk for CVS and Early Amniocentesis for pregnancy complication 1%
Rhogam administered 3 times and they are Time of Amniocentesis/CVS, 28 weeks and Delivery
IgM First responder antibodies - Rhogam destroys IgM
IgG Memory antibodies
Initital Office Visit (Prenatal Care) Medical history, Obstetrical history, Surgical history, Family history, Physical exam, Lab tests.
Symptoms of Pregnancy Amenorrhea, Nausea and vomiting, Breast tenderness, Bladder irritability and frequent urination, Linea nigra, Chloasma
Prenatal Care Maternal Assessment Current Medication, Alcohol, tobacco, over-the-counter medication, Pets, Physical abust, Nutrition, Environmental exposure
TORCH Toxoplasmosis / Toxoplasma gondii, Other infections, Rubella, Cytomegalovirus,Herpes simplex virus
Quad Screen AFP, HCG, UE3, Inhibin-A. 14(some) 15-22 weeks
When is CVS performed? 10-13.6 weeks.
When is NT performed? 11-13.6 weeks
When is Amniocentesis performed? 16-22 weeks
When is PUBS performed? No earlier than week 17.
Maternal history conditions predisposing to fetal demise Prior stillbirth, prior abruption
Maternal disease, which predispose to fetal demise Insulin dependent diabetes, Hypertension, Renal disease, Autoimmune disease - Lupus, rheumatoid arthritis.
OB complications, which predispose to fetal demise PROM, Preeclampsia, Post Date, Decreased fetal movement, Decrease amniotic fluid volume.
HELLP Hemolysis, Elevated liver enzymes, Lowered platelets.
Prenatal diagnosis is advantageous for who? The immediate family
Tay Sachs Eastern European Jewish descent
Sickle Cell Black descent
Thalassemia Mediterranean or Asian
Cystic Fibrosis Caucasian
First Trimester Ultrasound evaluates for: Heart Beat, Nuchal Translucency, and Gestational Age by CRL
First Trimester Serum Screen d
First Trimester Screening PAPP-A, hCG and Nuchal translucency
Combined First Trimester Screening hCG, PAPP-A, NT and Maternal Age
Integrated Testing 1st and 2nd trimester ultrasound and biochemistry. NT, PAPP-A, AFP, uE3, hCG and inhibin A.
Sequential Screening Combined 1st trimester screening and 2nd trimester Quad Screen.
Second trimester uses what 4 biochemical markers: AFP, uE3, hCG and DIA.
Non-Invasive Methods Biochemical Marker Screening, Ultrasound, MRI, Fetal Echocardiogram, Fetal cells in mother's blood.
Minimally Invasive CVS, Amnio
Moderately Invasive PUBS, Embryoscopy/Fetoscopy, Fetal skin/muscle Biopsy, PGD.
Soft Markers for DS Nasal Bone, Nuchal Fold, Pyelectasis, Clinodactyly, Sandal gap, Echogenic cardiac foci, Choroid plexus cyst, Flattened midface
Ashkenazi Jewish are high risk for: Tay Sachs, Gaucher, Canavan, Cystic fibrosis
African Americans are high risk for: Sickle cell, Hemoglobin C, Alpha-thalassemia, Beta-thalassemia.
AMA defined as: 35 years of age at the time of delivery.
Factors that affect AFP values Gestational Age, Number of Fetuses, Maternal Age, Maternal weight, Maternal Race, Insulin.
Causes of ELEVATED AFP Normal variant, Underestimation of gestational age, Multiple gestation, Overestimation of maternal weight, Poor placental function, ONTD, VWD, Renal anomalies, Oligo, Bleeding, IUFD, Skin disorders.
hCG levels for T21, T18, NT Up, Down, NC
uE3 levels for T21, T18, NT Down, Down, NC
DIA levels for T21, T18, NT High, NC, NC
MSAFP Elevated at: 3.0 MoM
Causes of low MSAFP Overestimation of dates, Underestimation of maternal weight, Normal variant, IUFD, Maternal diabetes, SGA, DS.
Fetal Echocardiogram used to: Identify cardiac defects, cardiac arrhythmias, situs inversus, cardiac tumors, cardiomyopathy.
Amniotic Fluid Cushions, allows for movement, Lung development, Digestive Development, Renal Development.
Infertility Physical, Chromosomal, Genetic, Autoimmune, Hormonal.
ICSI Intracytoplasmic sperm injection One sperm directly into egg.
PGD Preimplantation Genetic Diagnosis
Created by: btkosewski
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