III: Birth Defects

Question 1

_____ approach: study cellular interactions and differentiation over time

Answer 1

system

Question 2

______: similar defects resulting from predominantly genetic mutations or predominantly environmental exposures

Answer 2

phenocopies

Question 3

Define VACTERL defects.

Answer 3

Vertebral, anal atresia, cardiac, tracheoesophageal atresia, renal, limb

Question 4

Describe the screening results in Down Syndrome.

Answer 4

low MSaFP, low uE3, high hCG, high InhA, low PAPP-A

Question 5

Describe the screening results in Trisomy 13/Patau Syndrome.

Answer 5

low PAPP-A

Question 6

Describe the screening results in Trisomy 18/Edwards Syndrome?

Answer 6

low MSaFP, low uE3, low hCG, low PAPP-A.

Question 7

Describe the testing for CF.

Answer 7

CFTR DNA test for mother, then partner, then invasive fetal testing

Question 8

Describe the testing for hemoglobinopathies.

Answer 8

Hemoglobin electrophoresis (Beta chain), DNA testing (Alpha chain)

Question 9

Developmental fields may involve the following four parameters.

Answer 9

Time, location, gene expression, interacting processes

Question 10

How is gestational age determined during the first trimester?

Answer 10

Crown-rump length

Question 11

How is gestational age estimated during the second and third trimesters?

Answer 11

Biparietal diameter, Abdominal circumference, femur length

Question 12

Name 4 major classifications of birth defects

Answer 12

Malformation, Disruption, Dysplasia, Deformation

Question 13

Name 5 indications for invasive diagnostic testing

Answer 13

Maternal age over 35, previous affected child, positive aneuploidy, parental chromosome rearrangements, abnormal ultrasound findings

Question 14

Name two means of invasive prenatal diagnosis.

Answer 14

Chorionic villus sampling, Amniocentesis

Question 15

Name two phenocopies for abnormal truncus arteriosus development.

Answer 15

22q11 deletion/DiGeorge Syndrome, isoretinoin

Question 16

Name two theories regarding the development of birth defects.

Answer 16

Hierarchical pathways, Developmental fields

Question 17

What produces alpha-fetoprotein?

Answer 17

Fetal liver

Question 18

What screening result may be suggestive of a neural tube defect?

Answer 18

high MSaFP

Question 19

When can free fetal DNA be obtained from maternal serum?

Answer 19

10 weeks gestation

Question 20

When is amniocentesis performed?

Answer 20

14-20 weeks

Question 21

When is chorionic villus sampling performed?

Answer 21

9.5-12.5 weeks

Question 22

When is estimation of gestational age most accurate?

Answer 22

Early in the pregnancy

Question 23

Which defects can be screened for with the Nuchal Translucency Test?

Answer 23

Down Syndrome, Trisomy 18/Edwards

Question 24

Which diagnosis? 50% of children die in the first month of life

Answer 24

Trisomy 13/Patau Syndrome

Question 25

Which diagnosis? Holoprosencephaly, cleft lip/palate, polydactyly, cardiac defects

Answer 25

Trisomy 13/Patau Syndrome

Question 26

Which diagnosis? Low-set ears, micrognathia, rocker-bottom feet

Answer 26

Trisomy 18/Edwards Syndrome

Question 27

Which diagnosis? Mean survivial of months

Answer 27

Trisomy 18/Edwards Syndrome

Question 28

Which diagnosis? Microcephaly, overlapping fingers, shield chest

Answer 28

Trisomy 18/Edwards Syndrome

Question 29

Which invasive diagnostic method carries a greater risk of fetal loss?

Answer 29

Chorionic villus sampling

Question 30

Which parameter best differentiates Trisomy 18 and Trisomy 21?

Answer 30

hCG (high in Trisomy 21/low in Trisomy 18)

Question 31

Which population should be screened for Tay Sachs disease?

Answer 31

Ashkenazi Jew