To understand why Down syndrome occurs, the structure and function of the human chromosome must be understood.
▪ Three genetic variations can cause Down syndrome.
▪ How can thisbe?
▪ Even though people with Down syndrome may have some physical and mental feature in common, symptoms of Down syndrome can range from mid to severe.
▪ Genetic counselling canbe sought to find the origin of translocation.
▪ Screening can provide import information about potential risks for pregnancy.
▪ These tests have no risk of miscarriage, but can’tdetermine with certainty whether a fetus is affected.
▪ These tests can diagnose chromosomal disorders, but not all birth defects, whit a high degree of certainty.
▪ NT is ascreening test only and cannot determine with certainty if the fetus does or does not have Down syndrome, only if you risk seems to be high or low.
▪ An additional ultrasound and fetalechocardiogram, an ultrasound of the fetal heart, can be performed at 18 to 20 weeks of gestation to look for these abnormalities, if indicated.
▪ When the fetus is know to be at risk, it candetect other genetic diseases like cystic fibrosis and sickle cell disease.
▪ Testing for neural tube defects, such as spina bifida, also can be performed.
▪ It can detect othergenetic diseases like cystic fibrosis, tay-sachs disease and sickle cell disease in at –risk fetuses.
▪ Expanded alpha fetoprotein (AFP) blood testing or ultrasound can be performedlater in the pregnancy to screen for spinal cord defects.
Ministerio del Poder Popular para la Educación Superior
Instituto Universitario AVEPANE
Educación Inicial. IV Semestre
Cruz Barros, Stephany
C.I. 19583014Tareas de ingles
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