Lecture 6 - Genetic Counseling

Question 1

Four Main Subdivisions of Genetic Counseling

Answer 1

Prenatal - reasons are advanced mother age, abnormal serum, cfDNA, ancestery based, or panethnic carrier screening, ultrasound anomoly, family history, teratogen exposure, recurrant pregnancy lost

Pediatrics - development delay, disability, autism, birth defect

Adult - adult onset disorder, or pre conception counseling

Cancer - family predisposition, early onset cancer, bilateral cancer diagnosis, related cancer in family

Question 2

Order of Counseling Session

Answer 2

Contract Patient
History intake - ask for all the documents and pedigreen questions
Physical Exam
Information Education - explain the science. Review test options. and provide risk assessment
Risk Assessment - can use mendelian empiric bayesion. Must tell the patient like what will happen in the case of good or bad results.
Example: negative result can lead to survival guilt, or positive result can lead to preventative measures
Psychological counseling - facilitate decision process without introducing
Care coordination follow up - give resources for what is needed

Question 3

Inheritance Patterns

Answer 3

autosomal dominant - affected in every generation
Autosomal recessive - often only 1 generation in family history
X linked - no male to male. Carrier females can have affected sons and no affected daughters

Question 4

CL/ palate

Answer 4

Causes - Genetics, environ, prenatal exposure, mltifactorial
Is associated with syndromes and only 10-15 percent have identifiable causes

Question 5

The two syndromes associated with CL/P discussed

Answer 5

22q Deletion - most common palate anomoly
exists with conotruncal heart anomalies, lerarning disability immune problems and hypocalcemia
Van Der Woude - other most common findings. Lip pits exist,
Autosomal Dominant

Question 6

Oral - Facial Digital Syndrome (OFD)

Answer 6

At least 13 types. type 1 most common. x inked dominant 
Oral features - abnormal tongue 
Extra missing teeth 
clef palate
hyperplastic Frenulum

Question 7

Hypohidrotic Ectodermal Dysplasia

Answer 7

Question you missed on exam
Hypohidrosis, hypotrichrosis, hypodontia (sweat hair teeth)
Cases are X linked
hypodontia - teeth erupt small and conical
Dental treatment - restoration , dental implants, orthodontics

Question 8

Osteogenesis Imperfecta

Answer 8

Characterized by bone fractures and deformities. Also usually autosomal dominant
associated with DI

Question 9

Dentinogenesis imperfecta

Answer 9

Blue - Grey or hyellow teeth .Fragile wear easy and break
X ray shows bulbous crowns with narrow roots
DI treatment
- bite maintenance early restorations
- plastic polymer to coat the teeth
Careful of fragility

Question 10

Craniofacial Microsomia (CFM)

Answer 10

Malformations derived from structures from 1st and 2nd branchial arches 
Cause unknown 
Facial Assymetry, maxillary or mandibular hyperlasmai 
Macrostomia 
Lateral oral clefting 
Preauricuar facial tags 
hearing loss and ear malformation 
Ceft lip and palate

Question 11

FAP

Answer 11

Familial Adenomatous polyposis
sooo many precancerous polyps in the colon
you will get cancer
dental anomalies - supernumerary teeth, unerupted teeth , congenetical absnce of teeth
dentigerous cysts

Question 12

Gorlin Syndrome

Answer 12

AKA nevoid basal cell carcinoma 
has jaw keratnocytes. and basal cell carcinomas 
Autosomal dominant in the PTCH gene. 
20-30% de novo rate 
Dental Anomolies - CL /P 
Milkd mandibular prognathism(aka underbit) 
odontogenic karatocysts of the jaw 
starts in second decade of life

Question 13

Peutz Jeghers Syndrome (PJS)

Answer 13

Nearly 100% cancer risk (colon cancer has higherst risk
Diagnoses dentally by pigmented macules on buccal mucosa of lip
is autosomal dominant
indicator of cancer