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Repro Pt.2 > Congenital Abnormalities > Flashcards

Congenital Abnormalities Flashcards

1
Q

TORCHeS

A

T: Toxoplasmosis
O: Other (Zika, Varicella, Listeria, Parvovirus, HIV)
R: Rubella
C: Cytomegalovirus
He: Herpes simplex Virus 2
S: Syphilis

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2
Q

_ is a protozoan parasite with felines as definitive hosts, but can undergo asexual reproduction in mammals, birds

A

Toxoplasma gondii is a protozoan parasite with felines as definitive hosts, but can undergo asexual reproduction in
mammals, birds

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3
Q

How is Toxoplasma gondii acquired by the parent?

A

Acquired through exposure to feline feces or eating undercooked meat

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4
Q

Classic Triad of Toxoplasma gondii

A
  1. Chorioretinitis: uveitis/ inflammation in the eye
  2. Intracrancial calcifications: calcium deposits in the brain
  3. Hydrocephalus: CSF build up in the brain

May also appear with cutaneous purpura

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5
Q

Tx of Toxoplasma gondii

A

Pyrimethamine-sulfadiazine

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6
Q

Congenital Rubella presenation by the mother?

A

Rash, polyarthiritis, polyarthralgia, lymphadenopathy

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7
Q

Infant presentation with congenital Rubella
(I love ruby earrings)

A
  • Bilateral cataracts
  • Retionpathy
  • Patent Ductus Arteriosus (PDA)
  • Sensorineural deafness
  • “Blueberry muffin” purpura
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8
Q

When is the greatest risk to pass rubella to the baby?

A

Greatest risk is with primary infection in gestating parent <= 10 weeks
* Organogenesis is going on
* Vaccinate moms before pregnancy

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9
Q

Most common TORCH infection?

A

CMV

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10
Q

Possible congenital complications of CMV infection

A
  • Hearing loss (progressive, may have later
    onset/recognition)
  • Microcephaly
  • Periventricular calcifications
  • Seizures
  • Chorioretinitis
  • Jaundice, hepatosplenomegaly
  • Purpura (”Blueberry muffin” rash)…
  • …but also petechiae (from thrombocytopenia)
    Cytomegalovirus (CMV)
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11
Q

What TORCH infection can cause growth restriction, microcephaly, hydrocephalus, hypertropic scars, and limb reduction deformities/hypolasia?

A

Varicella

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12
Q

Which TORCH infections can cause purpura?

A

Toxoplasmosis, CMV, Rubella

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13
Q

Which TORCH infections can cause chorioretinitis?

A

Toxoplasma and CMV

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14
Q

Which TORCH infections are known to cause hydrops/ in utero fetal demise?

A

Syphilis, parvovirus, listeria

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15
Q

Signs of Zika in fetus:

A

Zika infection:
* Severe microcephaly
* Arthrogryposis (joint contractures)
* Hypertonia
* Ocular effects

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16
Q

Signs of congenital parvovirus infection:

A

Signs of congenital parvovirus infection:
* Anemia
* Petechial rash
* Hydrops

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17
Q

_ is a collection of findings though to be produced in parallel from a single causative agent

A

Pleiotropy is a collection of findings though to be produced in parallel from a single causative agent

18
Q

Syndrome vs. sequence

A

Syndrome: results produced in parallel from a single causative agent
Sequence: cascade of effects after perturbation of single organ system

19
Q

What anomaly classfication does a club foot fall under?

A

Deformation

20
Q

_ is a congential morphologic anomaly of a single organ or body part due to an alteration of a primary developmental program.

A

Malformation is a congential morphologic anomaly of a single organ or body part due to an alteration of a primary developmental program.

21
Q

Examples of Malformations

A

Polydactyly
Heterotacy
Cleft Lip
Craniosynostosis
Cardiovascular Malformations

22
Q

_ is a morphologic anomaly involving dynamic or ongoing alterations of cellular constitution
or tissue organization within a specific organ
or tissue type

A

Dysplasia is a morphologic anomaly involving dynamic or ongoing alterations of cellular constitution
or tissue organization within a specific organ
or tissue type

23
Q

Example of Dysplasia

A

Hypohidrotic ectodermal dysplasia

24
Q

Triad of Hypohidrotic ectodermal dysplasia

A
  • Hypotrichosis (sparse hair)
  • Hypohidrosis (reduced/absent sweating)
  • Hypodontia (late and/or abnormal dentition)
25
Q

_ is an Alteration of the shape/position of a normally- formed body part due to aberrant mechanical forces

A

Deformation is an alteration of the shape/position of a normally- formed body part due to aberrant mechanical forces
* Ex: contractures

26
Q

When do deformations typically occur?

A

During Fetal Period (After Embryogenesis)

27
Q

_ is an irreplaceable loss of fetal tissue
(that had normal developmental
potential) because of extrinsic effects

A

Disruption is an irreplaceable loss of fetal tissue (that had normal developmental
potential) because of extrinsic effects
* Ex: amniotic bands

28
Q

Fetal Alcohol Spectrum Disorders

A
  • Alcohol inhibits cellular migration (especially neuronal/glial)
  • Pre/postnatal growth deficiency. Intellectual disability; congenital heart defects
  • Facial features: narrow palpebral fissures, smooth philtrum, thin vermillion border, maxillary hypoplasia
29
Q

When are teratogen exposures most severe

A

During in the Embryonic Period (Weeks 3-8)

30
Q

Which Teratogen causes : Impaired renal function in 2nd -3rd trimester: oligohydramnios, anuria, renal failure, pulmonary hypoplasia, growth restriction

A

ACE Inhibitors/ARBs

31
Q

Which Teratogen Causes: Can cause fetal bleeding but also inhibits osteocalcin (which is dependent on vitamin K and
important in bone/cartilage growth). Effects: malformed bones, microcephaly, intellectual disability

A

Warfarin

32
Q

Which Teratogen Causes: Cardiac malformations (Ebstein anomaly: displaced, abnormally large and poorly-functional
tricuspid valves– relative risk may be less than initially ascertained)

A

Lithium

33
Q

Which Teratogen Causes: Intrauterine growth restriction, likely because of constriction of fetal blood supply and possible
oxidative stress

A

Nicotine

34
Q

Which Teratogen Causes: Yellow staining of primary or deciduous teeth, diminished growth of long bones (can have similar post-natal effects in children)

A

Tetracycline

35
Q

Which Teratogen Causes: Directly interacts with regulatory expression of homeobox genes, most critical period is 2nd -5th week gestation (before pregnancy is usually recognized). Craniofacial dysmorphisms, cleft palate, thymic dysplasia, neural tube defects

A

Retinoic acid (Vitamin A derivatives)

36
Q

TERATO(W)A mnemonic:

A

TERATO(W)A mnemonic:
Thalidomide
Epileptic meds (valproic acid, phenytoin)
Retinoid (vitamin A)
ARBs/ACEi
Third element
Oral contraceptives
Warfarin
Alcohol

37
Q

Is PKU dominant or recessive?

A

Recessive

38
Q

Pregnant patients with PKU should restrict _ and supplement _

A

Pregnant patients with PKU should restrict Phe and supplement tyrosine

39
Q

Trisomy 13 (Patau Syndrome) Diagnostic Findings?

A

Ultrasound findings:
* Midline defects including clefts, holoprosencephaly and
NTDs
* >90% have cardiac defects
* Multiple structural abnormalities

40
Q

Trisomy 18 (Edward Syndrome) Diagnostic Findings

A

Prenatal Scan Findings: Growth restriction, Clenched Fists, >90% with cardiac defects, multiple malformations

41
Q

Chorionic Villus Sampling

A

Performed 10-14 Weeks
Technique is ‘Placental Biopsy”

42
Q

Amniocentesis

A

Performed after 15 Weeks
Can sample amniotic fluid

Repro Pt.2 (6 decks)

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