Congenital and Genetic Disorders Pamela is age 43 and had declined the offer of having an amniocentesis during pregnancy. The basic routine ultrasound results and other prenatal examinations indicated normal fetal development. However, following delivery, the physical characteristics of Down syndrome became apparent. Twenty-four hours after delivery, the infant showed signs of heart failure related to a ventricular-septal defect and was scheduled for surgical repair of the defect. What specific type of disorder is Down syndrome? Would amniocentesis have indicated that the fetus had Down syndrome? Explain. Down syndrome may be caused by genetic anomalies? What are they? Explain how these anomalies are formed and the mechanism of how they are able to cause Down syndrome? (Support your answer with 9 possible outcomes) Based on the tests performed, could the ventricular-septal defect have been detected before the infant was delivered? Explain your reasoning. What would be the advantages of knowing (in the prenatal period) that the fetus had Down syndrome?

Chromosomal anomalies chromosomal anomalies refer to the change or alteration in the genetic makeup…

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Human Anatomy & Physiology (11th Edition)

11th Edition

ISBN:9780134580999

Author:Elaine N. Marieb, Katja N. Hoehn

Publisher:Elaine N. Marieb, Katja N. Hoehn

Chapter1: The Human Body: An Orientation

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Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...

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Congenital and Genetic Disorders

Pamela is age 43 and had declined the offer of having an amniocentesis during pregnancy. The basic routine ultrasound results and other prenatal examinations indicated normal fetal development. However, following delivery, the physical characteristics of Down syndrome became apparent. Twenty-four hours after delivery, the infant showed signs of heart failure related to a ventricular-septal defect and was scheduled for surgical repair of the defect.

What specific type of disorder is Down syndrome?
Would amniocentesis have indicated that the fetus had Down syndrome? Explain.
Down syndrome may be caused by genetic anomalies? What are they? Explain how these anomalies are formed and the mechanism of how they are able to cause Down syndrome? (Support your answer with 9 possible outcomes)
Based on the tests performed, could the ventricular-septal defect have been detected before the infant was delivered? Explain your reasoning.
What would be the advantages of knowing (in the prenatal period) that the fetus had Down syndrome?

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