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21 Cards in this Set
- Front
- Back
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Genetics counselling
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process of assessing the occurrence, and risk of a genetic disorder in a person or family
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Main task of genetic counselling
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Prevention of genetic disorders
presymptomatic diagnosis preconceptional care= primary prevention prenatal care- secondary prevention genetic screening- tertiary prevention |
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approach to clinical genetics
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genetic counselling
preconceptional care prenatal care genetic screening programmes presymptomatic diagnosis |
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indications of potential genetic disorder
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known or suspected hereditary disease in patient/family
birth defects in "" mental retardation maternal age abnormal biochemical or ultrasound screening consanguinity |
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What do you do first/
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Genetic consultation- anamnesis
-diagnostic exam, prenatal diagnosis -non directive consultation |
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Types of genetic disorders
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monogenic-mendelian, use of mendelian database
polygenic-multifactorial chromosomal abnormalities tumor diseases |
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Primary prevention
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prevention of disease orgin
can mean sterilistation or contraception |
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PP- preconceptional care
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prevention of polygenic inborn errors
gynecologic care vitamin supplement changed lifestyle protection against mutagen |
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Secondary prevention
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prevention of the birth of a child with severe genetic disorders
Can mean: screening- cheap, good for many people but not precise |
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SP- Prenatal screening
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ultrasound-@ 6, 18, 32 week
- check for morphologic deformities biochemical- 2nd trimester -triple test= AFP, HcG, uE3 |
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1Prenatal cytogenetic diagnosis
INDICATIONS- Maternal age |
>35 years
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2Prenatal cytogenetic diagnosis
INDICATIONS- ABnormal values of biochemical markers |
AFP- a fetoprotein- fetal liver
B-hCG- choriogonadotropin- placental uE3- estriol placental hormone AFP- UP= neural tube defect AFP- DOWN, uE3- DOWN, hCG- UP= Risk of +21 EVERYTHING low= risk of +18 |
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negatives of biochemical screening
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screening is normally done of the peripheral blood
-can detect 60% DS -BUT high % of false positives -there can be 1st trimester screening= PAPP a, AFP and free B hCG but isnt routine |
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3Prenatal cytogenetic diagnosis
INDICATIONS- Pathology on Ultrasound screening |
can see, IUGR- intrauterine growth retardation
also fetal malformations and abnormal amount of amniotic fluid detection US markers and biochemical screening 1st and 2nd trimester--> 90% DS can be detected |
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4Prenatal cytogenetic diagnosis
INDICATIONS- One parent is carrier of balanced CHA |
risk of unbalanced progeny
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5Prenatal cytogenetic diagnosis
INDICATIONS- Psychologic indications |
previous pregnancy with some trisomy, turner sy
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Methods of prenatal cytogenetic diagnosis 1
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AMC- amniocentesis- cultivation of amniotic cells
-done at 14-18th week very safe higher risk if done earlier |
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Methods of prenatal cytogenetic diagnosis 2
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CVS- chrionic villi sampling
@10-13th week DIRECT- cells on surface of CV CULTIVATION- mesodermal core of CV Overall CVS is less reliable, risk of karyotype discrepancy Both direct and cultivation must be used of verification. |
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Methods of prenatal cytogenetic diagnosis 3
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Placental biopsy
@late 2nd or 3rd trimester similar to CVS, D or C |
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Methods of prenatal cytogenetic diagnosis 4
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Fetal blood from umbilical cord
high risk but quick and reliable |
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Methods of prenatal cytogenetic diagnosis 5
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Rapid karyotyping FISH on interphase cells (amniotic)
without cultivation QFPCR ONLY DETECTION OF SPECIFIC ANEUPLOIDIES |
