"Is My Child Different?"

"Is My Child Different?"

1. NICU

   • when
     • Maternal conditions
     • Delivery complications
     • Antepartum complications
     • Fetal conditions

2. Molecular diagnostics

   • Karyotyping
     • Chromosomal map for numerical and major structural abnormalities
   • FISH
     • Fluorescent used to detect small structural abnormalities in chromosomes
   • PCR
     • Amplifies the DNA sample thousands of times

3. Down Syndrome

   • Risk factor
     • Having had one child with Down syndrome
     • Advancing maternal age
     • Being carriers of the genetic translocation
   • Clinical features
     • Upward slant to the eyes
     • Single deep crease in the palms
     • Hyperflexibility
     • Small ears
     • Extra space between the big toe and the second toe
     • Enlarged tongue
     • Flat small nasal bridge
   • Causes
     • Trisomy 21
     • Mosaic
     • Translocation
   • Complications
     • Intellectual disability
     • Heart defects
     • Leukemia
     • Infectious diseases
     • Obesity
     • Thyroid problems

4. Breaking bad news

   • 1. SETTING UP the Interview
   • 2. ASSESSING THE PATIENT'S PERCEPTION
   • 3. OBTAINING THE PATIENT'S INVITATION
   • 4. GIVING KNOWLEDGE AND INFORMATION TO THE PATIENT
   • 5.ADDRESSING THE PATIENT'S EMOTIONS WITH EMPATHIC RESPONSES
   • 6. STRATEGY AND SUMMARY

5. Antenatal genetic screening

   • CVS (Invasive)
     • Taking a sample of the chorionic villi at week 12
   • Ultrasound
     • screens for nuchal translucency and structural abnormalities at week 10
   • maternal serum screening
     • Measures levelof hCG-b, AFP, and uE3 at 2nd trimester
   • Amniocentesis (Invasive)
     • Taking a sample of the amniotic fluid at week 16

6. psychological phases of reaction to bad news

   • 4. Depression
   • 5. Acceptance
   • 3. Bargaining
   • 2. Anger
   • 1. Denial