Dental Anomalies and Genetic Counseling Flashcards
Four main sub-specialties of genetic counseling and common referral reason
Prenatal, Pediatrics, Adult, Cancer
Prenatal
advanced maternal age (>35y at delivery), abnormal maternal serum screen or cfDNA screen, ancestry-based or pan-ethnic carrier screening, ultrasound anomalies, family/personal history of genetic disorder, teratogen exposure, recurrent pregnancy loss
Pediatrics
developmental delay, intellectual disability, autism, dysmorphic features, birth defects
Adult
symptoms or family history of an adult-onset disorder, carrier/pre-conception counseling
Cancer
possible family with predisposition to cancer, early-onset cancer (<50y), multiple primary cancers, bilateral cancer diagnoses, multiple individuals in multiple generations with related cancer in the family
genetic counseling session includes…
- Contracting
- history intake (developmental, pregnancy, medical, and family history)
- physical exam (if needed)
- information/education on diagnosis (or potential diagnosis)
- risk assessment
- psychosocial counseling
- care coordination/follow-up/resources
Inheritance patterns
- Autosomal dominant
- Autosomal recessive
- X-linked
Autosomal dominant
Affected individuals in every generation; equal male-to-female ratio
Autosomal recessive
Often only 1 generation in the family history, unaffected parents have affected children
X-linked
No male-to-male transmission; carrier females have affected sons and no affected daughters
Cleft Lip and/or Palate (CL/P)- causes
genetics, environment, prenatal exposures (ie. teratogens), pregnancy complications (amniotic band syndrome), or a combination (multifactorial)
Cleft Lip and/or Palate (CL/P)- facts
• 10-15% have an identifiable cause
o 10% risk chromosome abnormality
Associated with 400+ genetic syndromes: van der Woude syndrome, 22q deletion syndrome, Gorlin syndrome
Cleft Lip and/or Palate (CL/P)- 22q deletion syndrome (associated syndrome)
o Most common palate anomaly: velopharyngeal incompetence/insufficiency
o Other features: Conotruncal heart anomalies (ex. tetralogy of Fallot), learning disabilities, immune problems, hypocalcemia
Cleft Lip and/or Palate (CL/P)- Van der Woude syndrome (associated syndrome)
o Other most common finding: Lip pits
o Autosomal dominant with variable expressivity
Oral-facial-digital syndrome (OFD)
-At least 13 different forms o Type 1 (most common) -> X-linked dominant / lethal in males; others are recessive -Oral features: o Abnormal tongue (cleft, lobed-shape, and/or w/ noncancerous tumors or nodules) o Extra, missing, or defective teeth. o Cleft palate o Hyperplastic frenula -Other facial and/or digital findings
