Young: Medical Genetics - Extended Matching Questions

Table of Contents

1. Chapter 14
   1. Question 1
   2. Question 2

Question 1

Instructions: Each group of extended matching questions consists of lettered options followed by a list of numbered problems/questions. For each numbered problem/question select the one lettered option that is most closely answers the question. You can use the lettered options once, more than once, or not at all.

Theme: Prenatal diagnosis

Options:

1. Amniocentesis
2. Chorion villus sampling
3. Fetal blood sampling
4. Maternal serum screening
5. Ultrasonography
6. Maternal serum screening and amniocentesis
7. Maternal serum screening and ultrasonography

Select the most reliable prenatal diagnostic approach for the following conditions from the available options.

1

Scenario 1   Intrauterine infection Choose... Amniocentesis Chorion villus sampling Fetal blood sampling Maternal serum screening Ultrasonography Maternal serum screening and amniocentesis Maternal serum screening and ultrasonography Generally this can only be diagnosed by analysis of fetal blood. Page 275.Incorrect. See Page 275.Your answer has been saved.

2

Scenario 2   Neural tube defects Choose... Amniocentesis Chorion villus sampling Fetal blood sampling Maternal serum screening Ultrasonography Maternal serum screening and amniocentesis Maternal serum screening and ultrasonography The combination of maternal serum screening and fetal ultrasonography will identify over 90% of all severe neural tube defects. See Page 272.Incorrect. See Page 272.Your answer has been saved.

3

Scenario 3   Cystic fibrosis in the first trimester Choose... Amniocentesis Chorion villus sampling Fetal blood sampling Maternal serum screening Ultrasonography Maternal serum screening and amniocentesis Maternal serum screening and ultrasonography Cystic fibrosis can only be diagnosed reliably in the first trimester by DNA analysis using material obtained by chorion villus sampling. See Page 107 and 274.Incorrect. See Page 107 and 274.Your answer has been saved.

4

Scenario 4   Non-syndromal cardiac defects Choose... Amniocentesis Chorion villus sampling Fetal blood sampling Maternal serum screening Ultrasonography Maternal serum screening and amniocentesis Maternal serum screening and ultrasonography Ultrasonography will identify approximately 25% of serious cardiac defects. These cannot be detected by any other method. Page 273.Incorrect. See Page 273.Your answer has been saved.

5

Scenario 5   Down syndrome in the first trimester Choose... Amniocentesis Chorion villus sampling Fetal blood sampling Maternal serum screening Ultrasonography Maternal serum screening and amniocentesis Maternal serum screening and ultrasonography Up to 90% of cases of Down syndrome can be detected through maternal serum screening and ultrasonography for nuchal translucency in the first trimester, but the most reliable approach involves specific chromosome analysis of chorionic villi. Page 274.Incorrect. See Page 274.Your answer has been saved.