A Child with Abnormal Facies

Demographics
1. 41-year old multiparous woman Baby Salim delivered with Peculiar facial features and Heart murmurs
2. Chromosomal Abnormality suspected
Chromosomal Abnormalities
1. Structural
  1. Duplications
  2. Translocations
    1. Robertsanian
    2. Reciprocal
  3. Deletions
  4. Inversions
  5. Substitutions
2. Numerical
  1. Polyploidy
    1. Triploidy
    2. Tetraploidy
    3. An extra set of the entire genome
  2. Aneuploidy
    1. Monosomy (2n-1)
      1. Turner Syndrome (45,X) in females
    2. Trisomy (2n+1)
      1. Trisomy 21 (Down syndrome) 3 copies of chromosome 21
    3. Missing or having an extra chromosome in a pair
3. Causes
  1. Genetic
    1. Errors in meiosis or mitosis
  2. Environmental
    1. Infectious Agents Radiation Chemical agents Nutritional deficiencies Hormones Health state
  3. Maternal Age
    1. If >35 , higher chance of child with chromosomal abnormality
4. Identified by
Karyotyping
1. Test to examine chromosomes and identify genetic problems that cause disease
FISH (Fluorescent in situ hybridisation analysis)
1. Test that can detect very small pieces of chromosomes that are missing or extra
Premarital Screening
1. 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
2. For
  1. HIV
  2. Thalassemia
  3. Sickle cell anemia
  4. Hepatitis B &C
Genetic Counseling
1. In case of
  1. A family history of genetic condition Pregnancy after age 35 ,Already have a child with genetic condition Have had an ultrasound that suggests problem
2. What counselors do?
  1. Help identify risk of inherited disorder Explain inheritance Patterns ,suggest testing , lay out results and provide support
Antenatal tests
1. Routine tests
  1. Blood tests
    1. Blood group, Rhesus disease, Anemia , Diabetes , HIV, Hepatitis B
  2. Urine tests
    1. Protein levels
2. Screening Tests
  1. First trimester
    1. Beta HCG, PAPP-A In blood tests
  2. Second Trimester
    1. Maternal serum screening for Beta HCG, AFP , Inhibin A ,Estriol
  3. Ultrasound
3. Diagnostic tests
  1. Amniocentesis
  2. Chorionic Villi Sampling
  3. Cordocentesis
  4. Diagnostic Ultrasound
Down Syndrome
1. Types
  1. Trisomy 21 (most common)
  2. Mosaicism: Extra copy of chromosome 21 in some cells
  3. Translocation between chromosome 21 & chromosome 14 or 15
2. Signs & Symptoms
  1. 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
  2. Mental & Behavioral : Impulsive behaviour, poor judgement, short attention span,low IQ (below 70 , intellectual disability or MR)
3. Diagnosis
  1. Antenatal
  2. Postnatal based on physical features
4. Risk Factors
  1. Advanced maternal age Having had one child with Down Syndrome,Carrying genetic translocation
5. Treatment
  1. No cure, speech therapy,Occupational therapy, exercise, special education
Sharjah City of Humanitarian Services
1. Local non-profit organization aims to advance Arab family & develop social services it needs

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A Child with Abnormal Facies

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	Created by rose smith over 8 years ago