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24 Cards in this Set
- Front
- Back
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Diagnostic Testing
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Procedure performed on chromosomes, genes, or gene products to determine whether a mutation is causing a condition.
Slower, risky, expensive. |
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Screening Test
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Performed on populations known to have an increased risk of a specific mutation or condition.
Performed quickly, low risk, not diagnostic, cheap. |
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Elevated msAFP
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Increased risk of neural tube defects
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Decreased msAFP
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Increased risk of Trisomy 21
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Triple Screen
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Second trimester
msAFP, hCG, uE3 60-69% detection rate of T21, T18, neural tube defects |
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Quad Screen
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Second trimester
msAFP, hCG, uE3, and dimeric inhibin A 75-81% detection rate of T21, T18, open neural tube defects |
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First Trimester Screen
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Nuchal translucency, PAPP-A, hCG
82-87% risk assessment for T21, T18, T13 |
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Congential Dysmorphology
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Defect present at birth, though not necessarily due to genetic disorder
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Major Anomaly
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Malformations that create significant medical problems that require surgical correction or medical management
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Minor Anomaly
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Small malformations that do not increase morbidity or require correction.
Present in 15% of all newborns |
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≥3 minor anomalies
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20% risk of a major anomaly
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Syndrome
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Well-characterized constellation of major and minor anomalie that occur together in a predictable fashion
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Down Syndrome
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Major: Atrioventricular defects
Minor: Flat Face; upslanted eyes; small midface; protruding tongue; palmar crease; duodenal atresia; clinodactyly |
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Williams Syndrome
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Developmental delays
Dysmorphic features Supravalvular aortic stenosis (major cause of death) Caused by elastin gene deletion on 7q11 |
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Smith-Lemli-Opitz Syndrome
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Dysmorphic facial features
2-3 toe syndactyly Ambiguous genitalia Caused by defect in cholesterol production |
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Fetal Alcohol Syndrome
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Small head
Small eyes with ptosis Smooth philtrum (groove above upper lip) Thin upper lip |
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Association
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Group of anomalies that occur frequently together but do not have a recognized etiology
e.g., VACTERL (anal atresia, cardiac anomalies, tracheoesophageal fistula, renal anomalies, limb defects) |
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Sequence
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Group of related anomalies that stem from a single major anomaly that alters the development of other tissues or structures
e.g., Oligohydramnios sequence (lack of amniotic fluid leads to fetal compression in womb, born with flat face, joint issues, lung problems) |
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Field Defect
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Related malformations in a particular region
Often synonmyous with sequence e.g., Pierre-Robin sequence (small jaw pushes tongue upward, blocking palate fusion) e.g., Spina bifida (bowel and bladder problems, lower limb problems) |
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Malformation
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Signifies problems are due to a genetic, epigenetic, or environmental insult that alter proper development
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Deformation
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An external force (teratogen, literal force) results in abnormal development
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Disruption
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Normal development is arrested due to something disrupting the process
e.g., amniotic bands |
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Dysplasia
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abnormal cellular architecture, leading to tissue defects
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Approach to treating dysmorphologies
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Analysis: Family history, pregnancy problems, lab studies or x-rays
Synthesis: Determine the pathology Confirmation: Chromosomal analysis, metabolic screen Intervention/Management: Treat symptoms or correct issue, provide counseling to patient and family, follow-up |
