Structural Defects

Question 1

Congential means

Answer 1

born with

Question 2

What is the rate of congenital defects

Answer 2

1 in 33

Question 3

What is the most common cause of death in the first year

Answer 3

death from complications related to congenital defects

Question 4

Anomoly

Answer 4

Deviation from normal - general term

Question 5

Defect

Answer 5

Imperfection, lacking, deficient - general term

Question 6

Morpogenesis

Answer 6

The development of a specific organ or tissue

Question 7

Malformation

Answer 7

primary morphogenesis error, intinsic abrnormal development

Question 8

anencephaly

Answer 8

born missing parts of the brain and skull - typically missing frontal and cerebral cortex, has neural tube defects - can be caused by lack of folate

Question 9

Disruptions

Answer 9

secondary destruction of a previously normal organ system by a internal biologic factor i.e. amniotic band

Question 10

Deformation

Answer 10

abrnomality caused by applied abnormal force to the fetus

Question 11

What are the results of amniotic bands

Answer 11

caused by rupture of amniotic sac that causes fibrous bands that constricts limbs and blood flow, resulting in distal hypoplasia or amputation

Question 12

Club feet: disruption or deformation?

Answer 12

Deformation - caused by in utero compression

Question 13

Maternal causes of deformations

Answer 13

• First pregnancy
• small uterus
• malformed uterus
• leiomyomas

Question 14

Fetal/placental causes of defomrations

Answer 14

oligohydramnios
multiple gestations
abnormal fetal presentation during deliveruy

Question 15

Isolated defects

Answer 15

Single defect that accounts for 50-60% of al defects, usually only one organ system affected

Question 16

Grouping defects - what are the three types

Answer 16

Sequence
Syndrome
Association

Question 17

Association

Answer 17

Group of anomalies found together more often than statistical chance implies should happen - no idea why

VACTERL

Question 18

Sequence

Answer 18

defects caused by a single original abnormality (dominoes falling from a single point)

Question 19

Syndrome

Answer 19

group of anomalies that are related in cause but have their origins in different areas (dominoes knocked over from different points)

Question 20

VACTERL (Association)

Answer 20

Veterbral
Anal atresia
Cardiac
TE Fistula
Renal and radial
Limb

Question 21

Potter sequence (Sequence)

Answer 21

Oligohydrmnios - decreased amniotic fluid
Flat face
atypical hands and feet
hypoplastic lungs
breech delivery

Question 22

Agenesis

Answer 22

abscence of organ AND premordial cells

Question 23

Aplasia

Answer 23

Absence of organ due to lack of premodial development

Question 24

Atresia

Answer 24

Absence of opening to hollow organ

Question 25

Dysplasia

Answer 25

Abnormal organization of cells

Question 26

What is the break down of known and unknown genetic anomalies

Answer 26

Unknown 50-75% Chromosomal - 10-15% Single gene - 2-10% Multifactorial (genes and environement) - unsure

Question 27

What percent of aneuploid fetuses die in utero

Answer 27

80%

Question 28

What chromosome is involved in Down, Patau and Edwards syndromes

Answer 28

21, 13, and 18 respectivley

Question 29

What infections can cause genetic anomalies in fetuses

Answer 29

``` CHEAP TORCHES Chicken Pox Heapatitis Enterovirus Aids/HIV Parvo B19 ``` ``` Toxoplasmosis Other: GBS, Listeria, Candidia Rubella CMV HSV Every STD - gonorrhea, chlamydia, ureaplasma, HOV Syphyllis ```

Question 30

Infant symptoms from CHEAP TORCHES infections

Answer 30

fever, poor feeding, peticiae, jaundice, blindness, hearing loss, hepatosplenomegaly, blueberry muffin babies

Question 31

Two examples of multifactorial anomalies

Answer 31

Hip Dysplasia, Cleft Palate

Question 32

how long is the embryo mostly unaffected by toxins

Answer 32

2 weeks

Question 33

What period of time is the CNS susceptible to exposure

Answer 33

3 weeks to full term

Question 34

What period of time is the heart susceptible to exposure

Answer 34

3 weeks to 8 weeks

Question 35

What period of time are the arms and legs susceptible to exposure

Answer 35

4 weeks to 8 weeks

Question 36

What period of time are the eyes susceptible to exposure

Answer 36

4 weeks to full term

Question 37

What period of time are the teeth susceptible to exposure

Answer 37

6 weeks to 16 weeks

Question 38

What period of time is the palate susceptible to exposure

Answer 38

6 weeks to 9 weeks

Question 39

What period of time are the external genitalia susceptible to exposure

Answer 39

7 weeks to full term

Question 40

cleft palate is thought to be related to what pathway

Answer 40

TGF Beta