Congenital Abnormalities

Question 1

TORCHeS

Answer 1

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

Question 2

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

Answer 2

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

Question 3

How is Toxoplasma gondii acquired by the parent?

Answer 3

Acquired through exposure to feline feces or eating undercooked meat

Question 4

Classic Triad of Toxoplasma gondii

Answer 4

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

Question 5

Tx of Toxoplasma gondii

Answer 5

Pyrimethamine-sulfadiazine

Question 6

Congenital Rubella presenation by the mother?

Answer 6

Rash, polyarthiritis, polyarthralgia, lymphadenopathy

Question 7

Infant presentation with congenital Rubella
(I love ruby earrings)

Answer 7

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

Question 8

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

Answer 8

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

Question 9

Most common TORCH infection?

Answer 9

CMV

Question 10

Possible congenital complications of CMV infection

Answer 10

• 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)

Question 11

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

Answer 11

Varicella

Question 12

Which TORCH infections can cause purpura?

Answer 12

Toxoplasmosis, CMV, Rubella

Question 13

Which TORCH infections can cause chorioretinitis?

Answer 13

Toxoplasma and CMV

Question 14

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

Answer 14

Syphilis, parvovirus, listeria

Question 15

Signs of Zika in fetus:

Answer 15

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

Question 16

Signs of congenital parvovirus infection:

Answer 16

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

Question 17

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

Answer 17

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

Question 18

Syndrome vs. sequence

Answer 18

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

Question 19

What anomaly classfication does a club foot fall under?

Answer 19

Deformation

Question 20

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

Answer 20

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

Question 21

Examples of Malformations

Answer 21

Polydactyly
Heterotacy
Cleft Lip
Craniosynostosis
Cardiovascular Malformations

Question 22

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

Answer 22

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

Question 23

Example of Dysplasia

Answer 23

Hypohidrotic ectodermal dysplasia

Question 24

Triad of Hypohidrotic ectodermal dysplasia

Answer 24

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

Question 25

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

Answer 25

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

Question 26

When do deformations typically occur?

Answer 26

During **Fetal Period** (After Embryogenesis)

Question 27

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

Answer 27

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

Question 28

Fetal Alcohol Spectrum Disorders

Answer 28

* 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

Question 29

When are teratogen exposures most severe

Answer 29

During in the **Embryonic Period** (Weeks 3-8)

Question 30

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

Answer 30

ACE Inhibitors/ARBs

Question 31

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

Answer 31

Warfarin

Question 32

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

Answer 32

Lithium

Question 33

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

Answer 33

Nicotine

Question 34

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

Answer 34

Tetracycline

Question 35

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

Answer 35

Retinoic acid (Vitamin A derivatives)

Question 36

TERATO(W)A mnemonic:

Answer 36

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

Question 37

Is PKU dominant or recessive?

Answer 37

Recessive

Question 38

Pregnant patients with PKU should restrict _ and supplement _

Answer 38

Pregnant patients with PKU should restrict **Phe** and supplement **tyrosine**

Question 39

Trisomy 13 (Patau Syndrome) Diagnostic Findings?

Answer 39

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

Question 40

Trisomy 18 (Edward Syndrome) Diagnostic Findings

Answer 40

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

Question 41

Chorionic Villus Sampling

Answer 41

Performed 10-14 Weeks Technique is 'Placental Biopsy"

Question 42

Amniocentesis

Answer 42

Performed after 15 Weeks Can sample amniotic fluid