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Prenatal (GENC)
UAMS Prenatal Diagnosis for Genetic Counseling
| Term | Importance |
|---|---|
| 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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