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LECOM MS1 Embryology > Chapter 9 (Exam 3) > Flashcards

Chapter 9 (Exam 3) Flashcards

1
Q

What percent of newborns will display minor anomalies

A

15%

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2
Q

What percent of newborns will display major anomalies

A

3%

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3
Q

What percent of infant deaths do anomalies account for

A

25%

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4
Q

What are the 3 categories of birth defects

A

genetic
environmental
multifactorial

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5
Q

What percent of birth defects are genetic

A

30%

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6
Q

What percent of birth defects are multifactorial

A

55%

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7
Q

What percent of birth defects are genetic

A

15%

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8
Q

What are malformations

A

primary defect in development of organ
most often multifactorial
may be inheritable

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9
Q

What are disruptions

A

morphological alterations of already formed structures that are caused by destructive processes

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10
Q

What are examples of disruptions

A

vascular accidents leading to limb defects, amniotic band cuts off blood flow
cleft lip

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11
Q

What is deformation

A

change in shape due to mechanical force over a longe perior of time, often involve MSK and may be reversed postnatally

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12
Q

What is an example of deformation

A

clubfeet

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13
Q

What is a syndrome

A

a group of anomalies that occur together and have a specific known cause

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14
Q

What is an association

A

nonrandom appearance of two or more anomalies that occur together more frequently than by random chance alone, cause is NOT determined

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15
Q

What is a teratogen

A

substance that causes birth defects

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16
Q

When do most malformations occur

A

embryonic period

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17
Q

What congenital malformations may result from rubella

A 
cataracts
glaucoma
heart defects
hearing loss
tooth abnormalities
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18
Q

What congenital malformations may result from cytomegalovirus

A

microcephaly
visual impairment
intellectual disability
fetal death

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19
Q

What congenital malformations may result from herpes

A

microphthalmia
microcephaly
retinal dysplasia

20
Q

What congenital malformations may result from toxoplasmosis

A

hydrocephalus
cerebral calcifications
microphtlamia

21
Q

What congenital malformations may result from syphilis

A

intellectual disability

hearing loss

22
Q

What congenital malformations may result from thalidomide

A

limb defects

heart malformations

23
Q

What congenital malformations may result from opioids

A

neural tube defects, heart defects, gastroschisis

24
Q

What congenital malformations may result from SSRIs

A 
heart malformations
neural tube defects
anal atresia
facial clefts
other defects
25
Q

What congenital malformations may result from valproic acid

A

neural tube defects
heart
craniofacial
limbanomalies

26
Q

What congenital malformations may result from amphetamines

A

cleft lip and palate

heart defects

27
Q

What congenital malformations may result from alcohol

A 
fetal alcohol syndrome
short palpebral fissures
maxillary hypoplasia
heart defects
ID
28
Q

What congenital malformations may result from isotretinoin

A

isotretinoin embryopathy

29
Q

What is isotretinoin embryopathy symptoms

A

small abnormally shaped ears
mandibular hypoplasia
cleft palate
heart defects

30
Q

What congenital malformations may result from diethylbestrol (DES)

A

malformations of the uterus, uterine tubes, and upper vagina; vaginal cancer; malformed testes

31
Q

What congenital malformations may result from maternal diabetes

A

carious malformations

heart and neural tube defects most common

32
Q

What congenital malformations may result from maternal obesity

A

neural tube defects
heart defects
omphalocele

33
Q

What congenital malformations may result from organic mercury

A

neurological symptoms similar to those of cerebral palsy

34
Q

What are the most common prenatal screenings for diagnosis of birth defects

A

Ultrasound
maternal serum screening
amniocentesis
chorionic villus sampling

35
Q

What parameters are revealed by US

A 
characteristics of fetal age and growth
congenital anomalies
status of uterine environment
amniotic fluid level
placental position
umbilical blood flow
36
Q

What congenital malformations can be seen in ultrasound

A

neural tube defects: spina bifida and anencephaly

abdominal wall defects: omphalocele and gastroschisis

heart and facial defects: cleft lip and palate

37
Q

What is nuchal translucency used to test for

A

Down’s sydrome and other chromosomal related abnormalities

38
Q

What does nuchal translucency do

A

through ultrasound measure translucent space at the back of the baby’s neck where fluid accumulates in DS patients

39
Q

What is amniocentesis

A

sampling of the amniotic fluid using a hollow need inserted into the uterus to screen for developmental abnormalities in a fetus

40
Q

What is chorionic villus sampling

A

test made in early pregnancy to detect congenital abnormalities in the fetus

41
Q

How is chorionic villus sampling performed

A

tissue sample from the villi of the chorion, which forms the fetal part of the placenta

42
Q

What is cordocentesis

A

percutanous umbilical cord blood sampling

43
Q

What is the preferred method for obtaining fetal blood

A

percutaneous umbilical cord blood sampling

44
Q

What are factors that place women at high risk during pregnancy

A

advanced maternal age
previous family history of genetic problems; such as having Downs or neural tube defect previously
presence of maternal disease
abnormal US or serum screening test

45
Q

What is maternal serum screening used for

A

test for neural tube defects and abnormalities

increased AFP in maternal are a sign

LECOM MS1 Embryology (19 decks)

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