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Sfaturi genetice - evaluarea riscului unei persoane de a manifesta o maladie sau a unui cuplu de a avea un copil cu handicap.
Obiective: Diagnostic
Precizararea caracterului genetic al bolii
Stabilirea modului de transmitere a maladiei
Comunicarea riscului de recurenta a maladiei
Etape in elaborarea sfatului genetic:
Cercetarea familiala cu intocmirea arborelui genealogic
Investigatii citogenetice - stabilesc anomalii numerice
Investigatii moleculare = stabilesc mutatiile genice
INvestigatii biochimice - stabilesc bolile metabolice
Calcularea riscului genetic: Pentru gene dominante autozomale: 1:2
pentru gene recesive autozomale est 1:4, pentru gene x-linkate ete 50% din baieti vor fi afectati si 50% din fete vor fi purtatoare.
Diagnosticul prenatal - riscul de malformatie pentru orice sarcina este de 3%
Tehnicile de diagnoza:
1. Ecografia sau ultrasonografia - identifica anomalii structurale
2. Amniocenteza - identifica anomalii structurale si numerice cromozomale
3. Analiza doppler - identifica viteza circulatiei sanguine fetale
4. Analiza sangelui fetal
5. Analiza sangelui matern - identifica sindromul down
Fertilizarea in vitro: consta in unirea a doi gameti de sex opus, ducand la formarea unui zigot
Infertilitatea: imposibilitatea unui cuplu de a da nastere la descendenti timp de un an, avand o viata sexuala normala. Poate fi de tip primar si de tip secundar.
Fertilizarea in vitro consta in fertilizarea unui ovul femel in afara organismului. Embrionul rezultat va fi introdus in uterul femeii prin transplantare.
Clonarea reproductiva: consta in obtinerea unor organisme identice cu organismul mama. Este utilizata la plante. La animale prima clona obtinuta a fost oaia dolly. Astefl de animale clonate pot fi utilizate pentru producerea de proteine terapeutice sau ca donori de tesuturi si organe.
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