Dr. I G K Nyoman Arijana, Msi.

Med
Histology Department
 Genetic Counseling 1
A process to give information & education which addresses concerns
relating to the development and/or transmission of a hereditary
disorder

diagnosis risk options communica long-term

assessment tion contact and
support

•Anamnesis Support group Prenatal 2-way Support group

(pedigree, past diagnosis, PGD, communication
history family contraception/
history) sterilization,
•Physical & adoption,
supporting artificial
examination insemination by
including DNA donor
testing
•Available
treatment
•Long term
prognosis
Genetic Counseling 2
Overview of Genetic Disorders

Chromos Mendelian Multifactorial&

omal Polygenic

•Number AD DM I
Trisomy 21 AR Cleft lip/palate
•Structural X-linked
Neural tube defects
Robertsoni Y-linked
an
translocati
on
 Outline : Prenatal Diagnosis
Invasive Prenatal Diagnosis (IPD) Non-Invasive Prenatal Diagnosis (NIPD)

CVS (9-12 weeks) Maternal serum screening

Amniocentesis (16-17 weeks) Ultrasound (USG)
Cordocentesis (19-21 weeks) Isolation of fetal cells from
maternal circulation
Fetoscopy
Isolation of cell-free DNA
PGD (8 cells-blastomere) (cffDNA) from maternal
circulation

Laboratory analysis:
•Chromosomal level : karyotyping
•DNA level : PCR
•Biochemistry level: maternal serum screening
Outline : Complication of Prenatal Diagnosis

Fetal Loss
• Amniocentesis: 1/200
•CVS: 1%
•Cordocentesis: 2-3%
•Fetoscopy : 5%
 IPD (Invasive Prenatal Diagnostic)

1. CVS-Chorionic Vilus Sampling (Courtesy of YouTube)

 IPD (Invasive Prenatal Diagnostic)

2. Amniocentesis (Courtesy of YouTube)

 IPD (Invasive Prenatal Diagnostic)

3. Cordocentesis /PUBS –Percutaneus Umbilical Blood Sampling

(Courtesy of YouTube)
NIPD (Non-Invasive Prenatal Diagnostic)

1. Ultrasound, 2D vs 4D (Courtesy of YouTube)

 Special Technique in IPD

IVF (Courtesy of YouTube)

 Special Technique

PGD (Courtesy of YouTube)

 Summary

Genetic counseling
• Communication and education
•End result : non-directive
•Genetic disorder

Prenatal diagnosis
• Invasive & non invasive
•complication
•Lab analysis
Thank You for Your Attention