Teratogens

Which specific ultrasound anomaly, when found in isolation, has the highest association with aneuploidy?

Omphalocele

What is the most common etiology for fetal birth defects?

Chromosomal

A substance external to the fetal genome capable of interfering with development and causing birth defects is a _____.

Teratogen

Teratogens differ from genetic conditions because they are _____ to the fetal genome.

External

What is the 'all or none' period regarding fetal exposure in weeks after the Last Menstrual Period (LMP)?

First four weeks after LMP

In terms of embryonic age, the 'all or none' period occurs during the first _____ weeks.

Two

During the 'all or none' period, a harmful exposure typically results in either recovery or _____.

Miscarriage

Exposure to which anticonvulsant medication increases the risk for Open Neural Tube Defects (ONTD) from 1 in 1,000 to approximately 1-2%

Valproic acid, depakote

Which specific syndrome is associated with prenatal exposure to the anticonvulsant Phenytoin/Dilantin?

Fetal hydantoin syndrome

• 5-10% of exposed fetuses present with microcephaly, dysmorphic features, DD, ONTD, hypoplasia of nails, distal phalanges

Jitteriness, increased muscle tone, and irritability in a newborn following SSRI exposure are symptoms of _____.

Neonatal withdrawal syndrome

Exposure to SSRIs during the second trimester is associated with a possible increased risk of which condition?

Pulmonary hypertension

What does the acronym ACE inhibitor stand for?

Angiotensin-Converting Enzyme inhibitor, used for high bp treatment

ACE inhibitors are primarily used to treat which maternal condition?

High blood pressure

What abnormalities are commonly seen with ACE inhibitor exposure?

Oligohydramnios, renal dysplasia

Which specific cardiac defect is the classic association with Lithium exposure?

Ebstein’s anomaly - enlarged right atrium with atrial septal defect

What is the primary medical use for Lithium during pregnancy?

Mood stabilizer

What are the hallmark characteristics of 'Warfarin embryopathy'?

Nasal hypoplasia, stippling of vertebrae and bony epiphyses

What was the primary use for Thalidomide in the 1950s and 60s?

Nausea and as a sedative

What is the characteristic limb defect caused by Thalidomide exposure?

Absence of long bones like the humerus, forearm, femur, or lower leg

Fetal Alcohol Spectrum Disorder (FASD) is characterized by which specific facial features and neurological outcomes?

Small eyes, thin upper lip, flat nose bridge, and a smooth philtrum
Brain damage, reduced IQ, and social delays

Cigarette smoke exposure in utero is associated with a higher incidence of?

Cleft lip and palate
low birth wt, growth restriction, placental problems

What does TORCH stand for?

Toxoplasmosis, Other, Rubella, CMV, HSV

What is the primary parasite responsible for Toxoplasmosis, and where is it found?

Toxoplasma gondii,

Undercooked meat and contact with cat feces

Which ultrasound finding involving the brain is commonly associated with Toxoplasmosis?

Hydrocephalus or echogenic calcifications

Through what medium is Cytomegalovirus (CMV) most commonly passed?

Body fluids such as saliva, urine, blood, or breast milk

What are the two primary symptomatic presentations of CMV at birth?

Hearing loss and echogenic bowel/calcifications, but also presents with DD/ID and asymptomatic

Which sensory impairments are associated with congenital Rubella syndrome?

Hearing loss, cataracts, heart defects

check for IgG/IgM serum/amniotic fluid for exposre

What term describes the pattern of birth defects caused by poorly controlled maternal glucose levels, and what measurement gives glucose insight?

Diabetic embryopathy

HbA1C level (result shows HbA1C from 8 weeks prior)

Which specific defects are highly associated with maternal diabetes?

Caudal regression syndrome (irregularly shaped chest, frog leg position, small hip bones)

neural tube defects, other birth defects

Hyperthermia is generally defined as a maternal body temperature exceeding _____.

102F

Which fetal system is most vulnerable to maternal hyperthermia?

Central Nervous System (CNS), ONTD rates increase

What is the critical period of development during which most major organ systems are formed and are most vulnerable to teratogens?

Organogenesis

According to the takeaways, what should be expected regarding prenatal exposures in clinical practice?

They are common