Term
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Definition
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Term
| Which of the following is not a something that is looked for during a 1st or 2nd trimester screening test: 1.Trisomy 13, 2.Trisomy 18, 3.Trisomy 21, 4.Triploidy, 5.Burner's Syndrome, 6.Genetic Sonographic Markers |
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Definition
| 5 (It is Turner's not Burner's) |
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Term
| Prenatal diagnosis is important to prepare for disabilities and ___________. |
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Definition
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Term
| Screening methods for Trisomy 13, 18, & 21,Triploidy, & Turner's syndrome include Ultrasound, Nuchal Translucency screening, Lab values, & _____________. |
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Definition
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Term
| Invasive screening methods include CVS (Chorionic Villi Sampling), Amniocentesis, _____________ |
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Definition
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Term
| causing development of 1+ abnormal structures in an embryo/fetus |
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Definition
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Term
| Two types are: 1. Physical agents & 2. Drugs & Chemical Agents |
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Definition
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Term
| These (2) physical agents (teratogens) causes malformations |
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Definition
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Term
| This physical agent (teratogen) consists of uterine anomalies, fibroids, oligohydramnios, & amnionic bands |
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Definition
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Term
| This drug/chemical agent (teratogen) can cause FAS. |
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Definition
| Alcohol (Fetal Alcohol Syndrome) |
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Term
| This drug/chemical agent (teratogen) can cause heart/spine malformations. |
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Definition
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Term
| Development of physical defects in an embryo (During fetal development, certain fetal structures are affected by teratogens during specific times of development) |
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Definition
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Term
| Which of the following is NOT a drug/chemical agent (teratogen): 1.alcohol, 2.methotrexate [malignant or neoplastic disease and abortion], 3.antithyroid drugs, 4.DES, 5.radiation, 6.thalidomide [sedative, leprosy], 7. coumadin |
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Definition
| 5 (This is a physical agent) |
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Term
| Which of the following is NOT a physical agent (teratogen): 1.Radiation, 2.Coumadin, 3.Heat, 4.Mechanical |
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Definition
| 2 (This is drug/chemical agent) |
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Term
| chromosomes are arranged in pairs in descending order of size/position |
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Definition
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Term
| Normal human karyotypes contain _____ pairs of autosomal chromosomes & one pair of sex chromosomes. |
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Definition
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Term
| Normal karyotypes for women contain two X chromosomes & are denoted _______ |
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Definition
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Term
| Men have both an X & a Y chromosome denoted __________. |
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Definition
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Term
| Any variation from the standard __________ may lead to developmental abnormalities. |
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Definition
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Term
| performed to i.d. absence or presence of a normal karyotype |
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Definition
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Term
| complete sets of chromosomes (23 sets) |
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Definition
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Term
| abnormal # of chromosomes |
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Definition
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Term
| 3 chromosomes per cell instead of 2 |
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Definition
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Term
| genetically/environmentally) |
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Definition
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Term
| basic combination of genes in a person |
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Definition
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Term
| presence of cells of 2 different genetic materials in same individual |
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Definition
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Term
| too much or too little chromosome material |
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Definition
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Term
| affected parent or results from a new mutation. Transmitted to 50% of offspring. |
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Definition
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Term
| Caused by a pair of defective genes, 1 inherited from each parent. 25% chance of passing to offspring. |
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Definition
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Term
| inherited by boys from their mother. Not transmitted to sons by affected males; all affected males daughters are carriers. Son of F carrier-50% of being affected; daughter of F carrier-50% of being carrier |
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Definition
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Term
| major protein in fetal serum produced by YS early & by liver later (Can be found in fetal spine, GI tract, liver, kidneys) |
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Definition
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Term
| Protein carried into amn fl by fetal urination & reaches maternal blood through fetal membranes; Measured in maternal serum or from amn fl |
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Definition
| AFP (Alpha-fetoprotein) (MSAFP/AFAFP) |
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Term
| AFP levels that increase w/ GA |
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Definition
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Term
| AFP levels that decrease w/ fetal age |
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Definition
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Term
| Elevated or Low MSAFP (Maternal Serum Alpha-fetoprotein)? incorrect dates, multiples, ONTD, ventral wall defects, etc. |
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Definition
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Term
| Elevated or Low MSAFP (Maternal Serum Alpha-fetoprotein)? incorrect dates, Trisomies 13, 18, 21, fetal demise |
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Definition
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Term
| A glycoprotein secreted from placental trophoblastic cells |
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Definition
| hCG (Human chorionic gonadotropin) |
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Term
| biochemical marker evaluated as part of triple & quad screen; hormone produced by fetal liver & placenta |
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Definition
| uE3 (Unconjugated estriol) |
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Term
| biochemical marker evaluated as part of quad screen; a protein derived from the placenta |
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Definition
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Term
| ideal; accurate dates important; not commonly used due to Quad screen |
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Definition
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Term
| 1st tri serum marker. Glycoprotein derived from trophoblastic tissue & diffused into maternal circulation. The levels increase during preg & decreased w/ aneuploidy. |
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Definition
| PAPP-A (Pregnancy-Associated Plasma Protein A) |
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Term
| glycoprotein derived from placenta that can be assessed in maternal serum in 1st trimest that is used to evaluate for increased risk of Down's |
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Definition
| Free Beta hCG (Free beta human chorionic gonadotropin) |
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Term
| Screening tests that occur in order; one after another |
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Definition
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Term
| What Trimester: Lab values: PAPP-A (Pregnancy-Associated Plasma Protein A) & Free BhCG combined with US for NT? |
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Definition
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Term
| What Trimester: Maternal serum quad screen (can increase detection of Down's vs. triple screen) {AFP, unconjugated estriol, B-hCG, inhibin-A} |
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Definition
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Term
| Maternal serum screen is performed between 15-20 weeks/between ______ weeks is ideal; accurate dates are IMPORTANT!!! |
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Definition
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Term
| Maternal Age: Older mother=increased risk of trisomy T13, T18, T_____ |
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Definition
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Term
| Risk for _______ & Turner's is not necessarily related to maternal age |
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Definition
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Term
| Nuchal translucency scan is ______ week 6 day scan (1st trimester) There are stringent criteria & a certified individual performs NT |
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Definition
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Term
| NT (Nuchal Translucency) measurement will ________ with the CRL |
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Definition
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Term
| CRL (Crown Rump Length) should be between 45 & ____ millimeters to do a NT |
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Definition
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Term
| some consider NT>____mm abnormal |
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Definition
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Term
| Fluid collection between the soft tissue over the cervical spine and the skin edge |
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Definition
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Term
| Trisomy 21: Combination of maternal age, NT, maternal serum PAPP-A & free BhCG gives a detection rate of _______% |
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Definition
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Term
| CVS (Chorionic Villi Sampling): ____ week minimum: increased chance to detect major fetal defects; early CVS carries risk of limb reduction defects |
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Definition
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Term
| CVS (Chorionic Villi Sampling): ____ weeks 6 days maximum: 1st trimester termination option; abnormal amount of nuchal fluid decreased at 14-18 weeks |
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Definition
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Term
| Which of the following is not a machine requirement for an NT: 1.high resolution, 2.video loop capability, 3.calipers to 2 decimal points |
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Definition
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Term
| _____% of NT scans are successful TA |
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Definition
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Term
| Operators are considered Proficient once they have scanned approximately ___ scans TA & approximately 100 scans TV |
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Definition
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Term
| _________ is associated with: heart defects, diaphragmatic hernia, body stalk anomalies, abdominal wall defects, T13, T18, & Turner's Syndrome |
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Definition
| Thickened NT (Nuchal Translucency) |
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Term
| Perform 3 NT (nuchal translucency) measurements and take the ________ |
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Definition
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Term
| There is a greater chance of detecting T______ with the nasal bone, NT, free BhCG, & PAPP-A in the first trimester. |
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Definition
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Term
| Fairly severe growth restriction is indicative of what chromosomal abnormalities? |
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Definition
| T18 (Edwards') & Triploidy |
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Term
| Mild growth restriction is indicative of what chromosomal abnormalities? |
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Definition
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Term
| Fairly normal growth is indicative of what chromosomal abnormality? |
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Definition
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Term
| At 10-13 weeks 6 days Tachycardia is associated with which chromosomal abnormalities? |
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Definition
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Term
| At 10-13 weeks 6 days Mild Tachycardia is associated with which chromosomal abnormality? |
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Definition
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Term
| At 10-13 weeks 6 days Bradycardia is associated with which chromosomal abnormalities? |
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Definition
| T18 (Edwards') & Triploidy |
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Term
| Which chromosomal abnormalities are associated with an umbilical vein with 90% pulsatile venous flow? |
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Definition
| T13 (Patau's) & 18 (Edwards') |
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Term
| Fetal Doppler studies include the _________, ductus venosus (Which is tedious & requires skill) and fetal tricuspid flow |
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Definition
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Term
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Definition
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Term
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Definition
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| Includes Maternal serum alpha-fetoprotein (MSAFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), & Inhibin-A. Accurate dates are important. |
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Definition
| Quadruple Screen (multiple marker screen) |
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Term
| Trisomy 21-hCG &/or inhibin A are _________ and alpha-fetoprotein &/or estriol _________ |
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Definition
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Term
| _______-all from the quadruple screen tend to be decreased |
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Definition
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Term
| Approximately 1 in 500 live births; Most common aneuploidy to result in a live birth; Extra chromosome 21 |
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Definition
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Term
| The nasal bones first appear at a CRL of ____mm and increase linearly with gestation. |
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Definition
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Term
| The gestational period for assessment of the fetal nasal bone must be _____ to 13 weeks and 6 days. |
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Definition
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Term
| Nasal Bone: The magnification of the fetus must be such that only the head & ________ are present on the screen. |
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Definition
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Term
| To assess the fetal nasal bone a ________ section of the fetal profile must be obtained with the angle of insonation perpendicular to to the plane of the nose. The US txr should be gently tilted from side to side to ensure that the nasal bone is seen separate from the nasal skin. |
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Definition
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Term
| The echogenicity of the nasal bone should be ______ than that of the skin overlying it. In this respect, the correct view of the nasal bones should demonstrate three distinct lines. |
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Definition
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Term
| A third line, almost in continuity with the skin, but at a higher level represents the _____ of the nose. |
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Definition
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Term
| The first two lines, which are proximal to the forehead, are horizontal and parallel to each other, resembling an "equal sign". The top line represents the skin and the bottom one, which is thicker and more echogenic than the overlying skin, represents the ____________. |
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Definition
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Term
| Absence of the bottom line of the "equal sign" represents the absence of the fetal ______________. |
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Definition
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Term
| When the nasal bone line appears as a thin line, less echogenic than the overlying skin, it suggests that the nasal bone is not yet __________, and it is therefore classified as being absent. |
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Definition
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Term
| Which of the following is NOT a sonographic sign of T21/Down Syndrome: 1.Thickened nuchal fold > 6 mm between 15 & 21 weeks; 2.Nasal hypoplasia; 3.Cardiac defects; 4.Shortened femur/humerus; 5.Holoprosencephaly; 6.Duodenal atresia; 7.Mild ventriculomegaly; 8.Echogenic bowel; 9.Hypoplastic 5th digit (clinodactyly); 10.Pyelectasis; 11.Echogenic Intracardiac focus |
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Definition
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Term
| 2nd Most common multiple-malformation syndrome. Extra chromosome 18. Many die in utero, 50% die within one week, & 90-95% die within one year. |
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Definition
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Term
| Which of the following is NOT a sonographic sign of T18/Edwards' Syndrome: 1.overlapping index finger over clenched hand; 2.rocker-bottom or clubfeet; 3.Heart defects; 4.Diaphragmatic hernias; 5.Micrognathia-small chin (underdeveloped jaw); 6.Choroid plexus cysts; 7.strawberry shaped skull, 8.abnormal cbl or CM; 9.Nasal hypoplasia; 10.Facial cleft |
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Definition
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Term
| If the stomach and heart are on the same level what is it called? What condition is this associated with? |
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Definition
| Diaphragmatic Hernia; T18 |
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Term
| 1:12,000 live births; Extra chromosome 13; Extremely poor prognosis; 45% die w/in first month; 90% by 6 mo; Survivors are retarded |
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Definition
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Term
| Which of the following is NOT a sonographic sign of T13/Patau's Syndrome: 1.Echogenic Intracardiac focus 2.Holoprosencephaly; 3.Facial abnormalities including clefts; 4.Microcephaly; 5.Cardiac anomalies; 6.Renal anomalies; 7.Exomphalos/Omphalocele; 8.NTD's |
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Definition
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Term
| Extra set of chromosomes (69); Majority: spontaneous ab; Most common-2 sperm fertilize ova (partial mole); rarely persists past 20 wk rd |
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Definition
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Term
| Double maternal chromosome-pregnancy may persist to 3rd trimester; small, growth-restricted fetus w/ small, non-cystic placenta |
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Definition
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Term
| Which of the following is NOT a sonographic sign of Triploidy: 1.Severe asymmetrical growth restriction; 2.Cardiac anomalies; 3.Clinodactyly; 4.Abnormal Placenta; 5.Oligohydramnios; 6.NTD's; 7.Omphalocele; 8.Renal anomalies |
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Definition
| 3 (This is T21...Triploidy is associated with Syndactyly) |
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Term
| Genetic abnormality marked by absence of X chromosome; 1:2000-5000 live births; Most abort spontaneously; Prognosis depends on extent of assoc anomalies; Survivors have a short stature & ovarian dysgenesis |
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Definition
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Term
| Cystic hygroma is one of most indicative findings. Additional findings include Cardiac anomalies, Horseshoe kidney, Generalized edema, pleural effusions, & ascites. |
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Definition
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Term
| Usually performed in 2nd trimester; specific, targeted exam for aneuploidy searching for fetal anomalies, as well as aneuploidy markers and abnormal biometry; info gained can guide pt to decide if an invasive test (amnio) will be performed |
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Definition
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Term
| variations in normal anatomy (which except for their relationship with aneuploidy) are unlikely significant; many normal fetuses exhibit soft markers |
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Definition
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Term
| Ideally performed around 20 weeks; Used in conjunction with other screening (quad screen), to assess pt risk; Considerable expertise required; Sensitivity depends on: markers i.d., Gestational Age, maternal hx, quality of exam & interpretation;Some recommend use only for high-risk persons and to be performed in specialized centers |
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Definition
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Term
| CPC (Choroid Plexus Cyst)(T18), Nuchal Fold Thickening(T21), Ventriculomegaly(T21), Nasal bone hypoplasia/aplasia(T21), EIF (Echogenic Intracardiac Focus)(T21), Echogenic bowel(T21), Pelviectasis(T21), SUA (Single Umbilical Artery), Shortened long bones(T21), Brachycephaly(T21), Small ear length(T21) |
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Definition
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Term
| Round, cystic area in CP > 2 mm, Usu resolved by 28 wk, Found in appx 40-60% T 18; may be larger size in T18 |
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Definition
| CPC (Choroid Plexus Cyst) |
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Term
| Ideal meas betw 15-21 wk w/ plane including CSP, cerebral peduncles, & cbl; Meas outer bone to outer skin; Upper limit is 5 mm; > 6 mm abnormal; varies w/ age (refer to tables) |
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Definition
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Term
| Vents > 10 mm (internal wall to wall meas); CNS anomalies; Assoc w/ T 21 |
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Definition
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Term
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Definition
| EIF (Echogenic Intracardiac Focus) |
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Term
| Homogeneous, hyperechoic (same as bone and more echogenic than liver) area in lower abd that doesn't shadow and usu resolves in few wk; Assoc w/ T 21 |
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Definition
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Term
| Dilation of fetal renal pelvis 4-5 mm or > 4-5 mm; Mild is common, usu w/ no significant long term complications; Assoc w/ Down's (T21) so look closely |
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Definition
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Term
| 2-v cord; Assoc w/ renal & cardiac abn; May be assoc w/ chromosomal abn |
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Definition
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Term
| Associated with T21; Shortened _______ bones |
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Definition
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Term
| Brachycephaly [elongated transverse (BPD) & shortened AP diameter (OFD)] is associated with which chromosomal abnormality? |
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Definition
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Term
| Small ear length is associated with which chromosomal abnormality? |
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Definition
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