Th2L03 Genetic testing

Pregunta	Respuesta
What is amniocentesis	A technique of prenatal diagnosis in which amniotic fluid, obtained by aspiration from a needle inserted into the uterus, is analysed to detect certain genetic and congenital defects in the foetus
When is amniocentesis usually carried out	during weeks 15-20 of pregnancy
What are the risks of amniocentesis	It is invasive and carries 1% chance of miscarriage
What safe-guards are their for amniocentesis	only offered if combined test shows risk (1Ks carried out every year)
What is a combined test	blood test that indicates if there is a significant risk the baby will develop a serious condition or abnormality
What is the combined test carried out	in Europe at 9-14 weeks, US at 11-13 weeks of pregnancy
What is involved in amniocentesis analysis	(1) Foetal cells isolated (2) Quantification of chromosomes (Q-PCR 1 day, 2 hours to test) (3) Karyotype (2 weeks), grown in culture medium
What is the Q-PCR	measures the quantity of a target sequence; used to study gene expression
What is the significance of maternal age	increases the risk of trisomy Esp. after age 33

Resumen del Recurso

	Creado por Emma Allde hace alrededor de 8 años