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

Congenital Abnormalities (Non-Cardiac) Flashcards

(64 cards)

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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
Early/Infantile Syphilis manifestations
``` Nasal discharge congestion bullous skin rash hepatomegaly skeletal abnormalities ```
26
Late/Tardive congenital syphilis manifestations
Notched central incisors interstitial keratitis w/ blindness deafness (CN VIII)
27
Manifestations of fetal radiation exposure
Microcephaly/ skull defects Blindness spina bifida Early exposure is worse than late
28
Pregnancy complications of maternal diabetes
``` 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
Causes of non-immune hydrops fetalis
``` CV defects Turner syndrome Fetal anemia (Parvovirus B19 or fetal hemoglobinopathy) ```
30
Primary cause of hydrops fetalis
Non-immune hydrops | use of RhoGam has significantly reduced immune hydrops
31
Posterior cervical hygroma (cystic hygroma)
Fluid accumulation in the neck due to structural abnormalities of the lymphatics. High association with Turner Syndrome
32
Mechanism of oomphalocele formation
failure of midgut to reduce back into the umbilicus
33
Abnormalities associated with oomphalocele
Trisomies (13, 18, 21) | Others
34
Symptoms of urethral obstruction in males
``` Prune belly Bladder dilation Hydroneprhrosis cystic medullary dysplasia cryptorchidism reduced prostate glands ```
35
Maternal disease associated with LGA and increased risk of fetal injury at birth
Maternal diabetes
36
Pre-term
Infants born
37
Symmetrical/Proportional IUGR
Head, and body are equally restricted | Most often related to FETAL entities
38
Entities associated with symmetrical IUGR
FETAL causes TORCHES Karyo abnormalities Congenital abnormalities
39
Asymmetric IUGR
Head and brain develop normally, but limbs body, and organs may be restricted. Associated with MATERNAL/PLACENTAL restriction
40
Entities associated with asymmetrical IUGR
``` 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
Placenta previa
Placenta that covers the cervical os | Associated with asymmetrical IUGR
42
Ecclampsia
Seizures that occur during a woman's pregnancy or shortly after giving birth.
43
Pre-eclampsia
A potentially dangerous pregnancy complication characterized by high blood pressure.
44
Chronic villitis
Lymphocytic infiltrate of the chorionic villi due to a TRANSPLACENTAL INFECTION Strongly associated with IUGR and stillbirth
45
Trans placental infections implicated in Chronic villitis
TORCHES (except Herpes) Listeria Treponema pallidum (syphilis) Parvovirus B19
46
PROM
Premature rupture of membranes (past 37 weeks, before labor)
47
Potential causes of PROM
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
PPROM
Preterm premature rupture of membranes
49
Potential causes of PPROM
Most often a transplacental (ascending) infection ``` TORCHES (but not herpes) Listeria E.coli GBS Candia ```
50
Manifestations of ascending fetal infections
Chorioamnionitis (neutrophilic) Fetal vasculitis (umbilical neutrophil margination) Meningitis, sepsis, or pneumonia at birth
51
Chorioamnnionitis
Neutrophilic infiltrate due to an ascending cervical infection Cytokines released from the infiltrate can cause premature membrane rupture
52
Role of TLRs in chorioamnionitis and PPROM
TLRs binding infectious bacteria will alter the expression of prostaglandins --> uterine smooth muscle contraction
53
Fetal Vasculitis
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
Complications of fetal vasculitis
Fetal sepsis, meningitis or pneumonia at birth
55
Early Onset perinatal sepsis
Due to a perinatal infection with GBS or E. coli. | Symptoms begin within 4-5 days of birth.
56
Late onset perinatal sepsis
Most often associated wtih Listeria or candidal infection
57
Risks in immature organ systems in premature infants (not lungs)
``` Subependymal/germinal matrix hemorrhage Brain swelling --> medulla herniation Kernicterus Homeostatic dysregulation Necrotizing enterocolitis PDA ```
58
Risks to infant from immature lungs
Ineffective surfactant production --> hyaline membrane disease Need for ventilation --> bronchopulmonary dysplasia or retrolental fibroplasia
59
Potential treatments for preterm infants with hyaline membrane disease
Give mother glucocorticoids within 48 hours of labor to induce surfactant in fetus Give fetus artificial surfactant (lecithin)
60
Atelectasis
Collapse of alveoli due to lack of surfactant
61
Adult analog of hyaline membrane disease ininfants
Diffuse alveolar damage
62
Bronchopulmonary dysplasia
Complication of infants on ventilation due to Oxygen toxicity and barotrauma Infants develop lung epithelial hyperplasia, interstitial fibrosis, and alveolar wall thickening
63
Cell that produces surfactant
Type II macrophages
64
Retrolental fibroplasia
VEG-F mediated retinal vascular damage due to oxygen therapy in infants

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