A Child with Abnormal Facies

A Child with Abnormal Facies

1. Demographics

   • 41-year old multiparous woman Baby Salim delivered with Peculiar facial features and Heart murmurs
   • Chromosomal Abnormality suspected

2. Chromosomal Abnormalities

   • Structural
     • Duplications
     • Translocations
       • Robertsanian
       • Reciprocal
     • Deletions
     • Inversions
     • Substitutions
   • Numerical
     • Polyploidy
       • Triploidy
       • Tetraploidy
       • An extra set of the entire genome
     • Aneuploidy
       • Monosomy (2n-1)
         • Turner Syndrome (45,X) in females
       • Trisomy (2n+1)
         • Trisomy 21 (Down syndrome) 3 copies of chromosome 21
       • Missing or having an extra chromosome in a pair
   • Causes
     • Genetic
       • Errors in meiosis or mitosis
     • Environmental
       • Infectious Agents Radiation Chemical agents Nutritional deficiencies Hormones Health state
     • Maternal Age
       • If >35 , higher chance of child with chromosomal abnormality
   • Identified by

3. Karyotyping

   • Test to examine chromosomes and identify genetic problems that cause disease

4. FISH (Fluorescent in situ hybridisation analysis)

   • Test that can detect very small pieces of chromosomes that are missing or extra

5. Premarital Screening

   • Health counseling and advice before marriage Diagnose undetected heredity conditions Protect community & unborn child from burdens Limit spread of certain disease ,raise awareness & reduce pressure over health institutions
   • For
     • HIV
     • Thalassemia
     • Sickle cell anemia
     • Hepatitis B &C

6. Genetic Counseling

   • In case of
     • A family history of genetic condition Pregnancy after age 35 ,Already have a child with genetic condition Have had an ultrasound that suggests problem
   • What counselors do?
     • Help identify risk of inherited disorder Explain inheritance Patterns ,suggest testing , lay out results and provide support

7. Antenatal tests

   • Routine tests
     • Blood tests
       • Blood group, Rhesus disease, Anemia , Diabetes , HIV, Hepatitis B
     • Urine tests
       • Protein levels
   • Screening Tests
     • First trimester
       • Beta HCG, PAPP-A In blood tests
     • Second Trimester
       • Maternal serum screening for Beta HCG, AFP , Inhibin A ,Estriol
     • Ultrasound
   • Diagnostic tests
     • Amniocentesis
     • Chorionic Villi Sampling
     • Cordocentesis
     • Diagnostic Ultrasound

8. Down Syndrome

   • Types
     • Trisomy 21 (most common)
     • Mosaicism: Extra copy of chromosome 21 in some cells
     • Translocation between chromosome 21 & chromosome 14 or 15
   • Signs & Symptoms
     • Physical : Flat facial features ,Small head & ears,short neck & bulging tongue , Brushfield spots,deep groove between first & second toes ,short hands & fingers,hypotonia, upward slanting eyes
     • Mental & Behavioral : Impulsive behaviour, poor judgement, short attention span,low IQ (below 70 , intellectual disability or MR)
   • Diagnosis
     • Antenatal
     • Postnatal based on physical features
   • Risk Factors
     • Advanced maternal age Having had one child with Down Syndrome,Carrying genetic translocation
   • Treatment
     • No cure, speech therapy,Occupational therapy, exercise, special education

9. Sharjah City of Humanitarian Services

   • Local non-profit organization aims to advance Arab family & develop social services it needs

Images and files in the map