Birth Defects

Question 1

Birth defect

Answer 1

Abnormality of structure, function or metabolism present at birth that results in physical or mental disabilities or death

Question 2

How many US babies have birth defects each year?

Answer 2

~120,000 (1 in 33)

Question 3

Leading cause of death in the first year of life

Answer 3

Birth defects

Question 4

Congenital defect

Answer 4

Any physical anomaly which is recognizable at birth

Question 5

Trisomy 21

Answer 5

Down syndrome - mental retardation, characteristic facial features, and often heart defects

Question 6

Trisomy 13 or 18

Answer 6

Multiple birth defects and often death in first months of life

Question 7

Achondroplasia

Answer 7

• Single gene defect
• Dwarfism

Question 8

Cystic fibrosis

Answer 8

• Single gene defect
• Serious disorder of lungs and other organs

Question 9

Hemophilia

Answer 9

• Single gene defect
• Blood clotting disorder

Question 10

Teratogens

Answer 10

Environmental substances causing birth defects

Question 11

Common teratogens

Answer 11

• Alcohol
• Medication
• Infection

Question 12

How can birth defects be reduced?

Answer 12

• Genetic counselor
• Avoid smoking, alcohol, and drugs
• STD screening
• Folic acid

Question 13

When does neural tube formation occur

Answer 13

Between 15-28 days of development

Question 14

Anencephaly

Answer 14

• Upper part of neural tube does not close all the way
• Baby is born w/o parts of brain and skull

Question 15

Spina bifida

Answer 15

• Occurs anywhere along spine where neural tube does not close all the way
• Physical and mental disability

Question 16

How can birth defects be diagnosed before birth?

Answer 16

• Blood test
• Ultrasound
• Chorionic villus sampling
• Amniocentesis

Question 17

When can non-invasive prenatal testing be done?

Answer 17

As early as 7 weeks

Question 18

Ultrasound in the first trimester

Answer 18

• Establish dates of pregnancy
• Detect heartbeat 7 wks LMP
• Fetal movement 7-8 wks
• Determine number of fetuses
• Diagnose ectopic pregnancy or miscarriage

Question 19

Ultrasound in second trimester

Answer 19

• Examine fetal anatomy for presence of abnormalities
• Discover sex of fetus at 14 wks

Question 20

Ultrasound in third trimester

Answer 20

• Monitor fetal growth
• Check amniotic fluid
• Determine fetus and placenta position

Question 21

When is chorionic villus sampling performed

Answer 21

10-12 wks LMP as placenta is fully functional

Question 22

Does chorionic villus sampling provide information on neural tube defects

Answer 22

No

Question 23

When is amniocentesis performed

Answer 23

15-20 wks LMP because amniotic fluid volume is maximized relative to fetus

Question 24

Indicator of neural tube defect

Answer 24

Alpha-fetoprotein

Question 25

Amniocentesis

Answer 25

Provides information about neural tube defects, chromosomal abnormalities, and other defects

Question 26

Arguments FOR prenatal screening

Answer 26

• Pursue interventions
• Plan for child with special needs
• Lifestyle changes
• Identify resources
• Make decision about carrying to term

Question 27

Arguments AGAINST prenatal screening

Answer 27

• Parents should be accepting regardless of outcome
• Personal, moral, or religious reason
• May pose risk to fetus

Question 28

Phenylketonuria (PKU)

Answer 28

Babies cannot process phenylalanine (an amino acid found in all foods). A build up causes brain damage and mental retardation.