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…

Answered: What specific type of disorder is Down…

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter16: Reproductive Technology, Genetic Testing, And Gene Therapy

Section: Chapter Questions

Problem 2CS: Jan is concerned about using ART. She wants to be the genetic mother and have Darryl be the genetic...

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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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