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