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FM4 Cramming > Congenital Abnormalities (Non-Cardiac) > Flashcards

Congenital Abnormalities (Non-Cardiac) Flashcards

1
Q

Embryo
Fetus
Neonate
Infant

A
  • Embryo: developing human from conception – end of 8th week
  • Fetus: developing human rom Week 9 – birth
  • Neonate: first 4 weeks of life after birth
  • Infant: first year of life after birth
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2
Q

Developmental Age

A

AKA fertilization age

Age from conception to birth

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3
Q

Gestational Age

A

AKA menstrual age

Age from last menstrual period to birth.
Typically 2 weeks longer than the developmental age as it includes the onset of ovulation.

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4
Q

Blastogenesis

A

Conception - week 4

Phase in which the germ layers are forming and organ buds are established

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5
Q

Organogenesis

A

week 4 – 8

Perioid in whic discrete organs form, highest risk for malformation

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6
Q

Phenogenesis

A

week 8 – Birth
Establishment of phenotypes
Primary risk period for deformations such as intrauterine constraint

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7
Q

Intrinsic abnormalities

A

abnormal cell or organ development at the time of their formation

Includes malformations

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8
Q

Extrinisic abnormalities

A

abnormal organ development due to an external influence or force

Includes deformities

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9
Q

Sequence vs Syndrome

A

Sequence: a series of malformations as a result of a single anomaly or mechanical factor

Syndrome: multiple abnormalities that result from a single anomaly (such as trisomy) but are not sequential and are unrelated otherwise

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10
Q

Potential causes of Potter Sequence (oligohydraminos)

A

Renal agenesis
Urethral obstruction
Amniotic leakage

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11
Q

Potential phenotypes associated with Potter sequence/ oligohydraminos

A 
Amnion nodosum (squamous metaplasia)
Fetal compression (facies, breech, limb malformation)
Pulmonary hypoplasia (leading to pulmonary insufficiency at brith)
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12
Q

Malformations assocaited with rubella

A

Cataracts
Heart defects (especially PDA)
Deafness

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13
Q

Mechanism of Thalidomide mutagenesis

A

Downregulation of “wingless” signalling –> limb abnormalities
Inhibits angiogenesis

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14
Q

Malformation induced by hyperthermia

A

Anencephaly

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15
Q

Malformation induced by warfarin

A

Clitoral hypertrophy
Labial fusion
Mental Retardation

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16
Q

Malformation induced by radioiodine therapy

A

Fetal thyroidectomy

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17
Q

Mechanism of valproic acid malformations

A

down-regulation of the HOX/homebox genes –> limb vertebral and crainoal abnormalities

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18
Q

Malformations induced by 13-Cis retinoic acid

A

CNS, cardiac defects

Cleft palate

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19
Q

Common malformations of FAS

A 
Microcephaly
Abnormal facies
Short palpebral fissures
growth retardation
Psychomotor defects
cardiac defects
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20
Q

TORCHES infection

A 
Toxoplasma
Other: HIV, VZV, mumps, influenza
Rubella
CMV
Herpes
Enterovirus
Syphilis
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21
Q

Tetrad of Congenital Rubella Syndrome

A

Cataracts, deafness, mental retardation, PDA

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22
Q

Symptoms of Congenital Toxoplasma

A

Brain calcification
Chorioretinitis
hydrocephaly

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23
Q

Symptoms of congenital CMV infection

A

Mental retardation
microcephaly
deafness
hepatosplenomegaly

Can be fatal

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24
Q

Symptoms of congenital herpes infection

A

Skin,eye, mucous membrane ulceration

Dissemination to brain can be fatal

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25
Q

Early/Infantile Syphilis manifestations

A 
Nasal discharge
congestion
bullous skin rash
hepatomegaly
skeletal abnormalities
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26
Q

Late/Tardive congenital syphilis manifestations

A

Notched central incisors
interstitial keratitis w/ blindness
deafness (CN VIII)

27
Q

Manifestations of fetal radiation exposure

A

Microcephaly/ skull defects
Blindness
spina bifida

Early exposure is worse than late

28
Q

Pregnancy complications of maternal diabetes

A 
Infants large for gestational age
(increases risk for birth injury)
Heart defects
CNS defects/ Neural tube
Pancreatic cell hyperplasia--> hypoglycemia at birth due to hyperinsulinemia
29
Q

Causes of non-immune hydrops fetalis

A 
CV defects
Turner syndrome
Fetal anemia (Parvovirus B19 or fetal hemoglobinopathy)
30
Q

Primary cause of hydrops fetalis

A

Non-immune hydrops

use of RhoGam has significantly reduced immune hydrops

31
Q

Posterior cervical hygroma (cystic hygroma)

A

Fluid accumulation in the neck due to structural abnormalities of the lymphatics.

High association with Turner Syndrome

32
Q

Mechanism of oomphalocele formation

A

failure of midgut to reduce back into the umbilicus

33
Q

Abnormalities associated with oomphalocele

A

Trisomies (13, 18, 21)

Others

34
Q

Symptoms of urethral obstruction in males

A 
Prune belly
Bladder dilation
Hydroneprhrosis
cystic medullary dysplasia
cryptorchidism
reduced prostate glands
35
Q

Maternal disease associated with LGA and increased risk of fetal injury at birth

A

Maternal diabetes

36
Q

Pre-term

A

Infants born

37
Q

Symmetrical/Proportional IUGR

A

Head, and body are equally restricted

Most often related to FETAL entities

38
Q

Entities associated with symmetrical IUGR

A

FETAL causes
TORCHES
Karyo abnormalities
Congenital abnormalities

39
Q

Asymmetric IUGR

A

Head and brain develop normally, but limbs body, and organs may be restricted.

Associated with MATERNAL/PLACENTAL restriction

40
Q

Entities associated with asymmetrical IUGR

A 
PLACENTAL/MATERNAL
Placental insufficiency or infarction (or other blood disruption)
Chronic villitis
muliple gestations
Maternal starvation
Maternal cyanosis
Ecclampsia/ Pre-ecclampsia
Drug use
alcohol
chronic maternal disease
41
Q

Placenta previa

A

Placenta that covers the cervical os

Associated with asymmetrical IUGR

42
Q

Ecclampsia

A

Seizures that occur during a woman’s pregnancy or shortly after giving birth.

43
Q

Pre-eclampsia

A

A potentially dangerous pregnancy complication characterized by high blood pressure.

44
Q

Chronic villitis

A

Lymphocytic infiltrate of the chorionic villi due to a TRANSPLACENTAL INFECTION

Strongly associated with IUGR and stillbirth

45
Q

Trans placental infections implicated in Chronic villitis

A

TORCHES (except Herpes)
Listeria
Treponema pallidum (syphilis)
Parvovirus B19

46
Q

PROM

A

Premature rupture of membranes (past 37 weeks, before labor)

47
Q

Potential causes of PROM

A

Having a previous preterm labor or premature birth
• Pregnancy with twins, triplets, or greater
• Less than six months between pregnancies
• Conception via in vitro fertilization
• Structural abnormalities of the uterus, cervix, or placenta
• Smoking cigarettes, drinking alcohol, or using illicit drugs
• Poor maternal nutrition
• Ascending infections (we will discuss in more detail)
• Chronic maternal conditions, including hypertension and diabetes
• Being underweight or overweight before pregnancy
• Multiple miscarriages or abortions
• Physical injury or trauma

48
Q

PPROM

A

Preterm premature rupture of membranes

49
Q

Potential causes of PPROM

A

Most often a transplacental (ascending) infection

TORCHES (but not herpes)
Listeria
E.coli
GBS
Candia
50
Q

Manifestations of ascending fetal infections

A

Chorioamnionitis (neutrophilic)
Fetal vasculitis (umbilical neutrophil margination)
Meningitis, sepsis, or pneumonia at birth

51
Q

Chorioamnnionitis

A

Neutrophilic infiltrate due to an ascending cervical infection
Cytokines released from the infiltrate can cause premature membrane rupture

52
Q

Role of TLRs in chorioamnionitis and PPROM

A

TLRs binding infectious bacteria will alter the expression of prostaglandins –> uterine smooth muscle contraction

53
Q

Fetal Vasculitis

A

Complication of an ascending infection that also infects the amniontic fluid.
Leads to neutrophils marginated int he umbilical cord (sign that fetus is responding to the infection)

54
Q

Complications of fetal vasculitis

A

Fetal sepsis, meningitis or pneumonia at birth

55
Q

Early Onset perinatal sepsis

A

Due to a perinatal infection with GBS or E. coli.

Symptoms begin within 4-5 days of birth.

56
Q

Late onset perinatal sepsis

A

Most often associated wtih Listeria or candidal infection

57
Q

Risks in immature organ systems in premature infants (not lungs)

A 
Subependymal/germinal matrix hemorrhage
Brain swelling --> medulla herniation
Kernicterus
Homeostatic dysregulation
Necrotizing enterocolitis
PDA
58
Q

Risks to infant from immature lungs

A

Ineffective surfactant production –> hyaline membrane disease

Need for ventilation –> bronchopulmonary dysplasia or retrolental fibroplasia

59
Q

Potential treatments for preterm infants with hyaline membrane disease

A

Give mother glucocorticoids within 48 hours of labor to induce surfactant in fetus

Give fetus artificial surfactant (lecithin)

60
Q

Atelectasis

A

Collapse of alveoli due to lack of surfactant

61
Q

Adult analog of hyaline membrane disease ininfants

A

Diffuse alveolar damage

62
Q

Bronchopulmonary dysplasia

A

Complication of infants on ventilation due to Oxygen toxicity and barotrauma

Infants develop lung epithelial hyperplasia, interstitial fibrosis, and alveolar wall thickening

63
Q

Cell that produces surfactant

A

Type II macrophages

64
Q

Retrolental fibroplasia

A

VEG-F mediated retinal vascular damage due to oxygen therapy in infants

FM4 Cramming (6 decks)

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