Child with Abnormal faces

Demographics
1. male baby
2. 41 year old multiparous woman
Chromosomes
1. made up of DNA coiled around histones
2. Humans have 46 chromosomes (23 pairs)
3. Types
  1. metacentric
  2. submetacentric
  3. acrocentric
  4. telocentric
4. Function
  1. Genetic Code Storage
  2. Sex Determination
5. Tests
  1. Karyotype
    1. How It Is Done?
      1. blood sample
      2. amniotic fluid
      3. Bone marrow
    2. Indications
      1. An individual with characteristics of chromosomal syndromes
      2. The presence of multiple congenital anomalies
      3. A couple with multiple miscarriages
  2. fluorescent in situ hybridization (fish)
Chromosomal Abnormalities
1. Numerical abnormalities
  1. polyploidy
    1. Triploidy (3n)
      1. dispermy
      2. Most die within one month
    2. Tetrapoidy (4n)
      1. failure of cytokinesis
      2. miscarried early in the pregnancy
  2. Aneuploidy
    1. Causes
      1. Nondisjunction
      2. Translocation
      3. Failure of duplication
    2. Types
      1. Trisomy
        Trisomy 21 (Down Syndrome)
        Trisomy 13 (Patau Synrome)
        Very rare , most die with uterus
        Symptoms
        Low birth weight
        deafness
        microcephaly
        cleft palate
        Trisomy 18 ( Edward syndrome )
        Most die with 6 months
        Symptoms
        Small head, jaw & mouth
        upturned nose
        malformed ears
        clenched fist with 5th finger overlapping the 3rd & 4th digit
      2. Monosomy
  3. in sex chromosomes
    1. Klinefelter Syn (XXY)
    2. Triple X Syn (XXX)
    3. Turner X Syn (XO)
    4. Incompatible (YO)
2. Structural abnormalities
  1. Deletion
    1. Cri du Chat Syndrome ( chromosome 5 )
  2. Duplication
    1. In dup Syndrome : duplication in chromosome 15
  3. translocations
    1. Recipocal translocation
      1. Balanced (even exchange of material)
        Nadin M-Bassam Adi, Group: K , U15101378
      2. Unbalanced (extra or missing genes)
    2. Robertsonian Translocation
  4. Inversion
  5. Ring chromosomes
Down Syndrome
1. types
  1. Translocation
    1. 3%
    2. Inherited
    3. between chromosome 21 and usually chromosome 14 or 15
  2. Trisomy
    1. 95%
    2. Not inherited
    3. Extra 21 chromosome in each cell
  3. Mosaicism
    1. 2%
    2. Not inherited
    3. Extra 21 chromosome in some cells
2. Antenatal Tests
  1. Screening Test
    1. Combined
      1. Blood Test
        Biochemical Serum
        Measures levels of Hormones/proteins
        PAPP
        Beta HCG
        AFP
      2. Ultrasound
        Done Between 11 week and 14 weeks
        Measures the fluid collection under the skin ( back of baby's neck)
    2. Quadruple
    3. Results
      1. Low Risk Result
      2. High Risk Result
  2. Diagnostic Test
    1. Amniocentesis
      1. Amniotic Fluid Sample is taken
        genetic material
    2. Chronic Villus Sampling
      1. Small Sample of tissue from the placenta is taken
        genetic material
3. Physical features
  1. up slanting palpebral fissures
  2. Generalized hypotonia
  3. small mouth & protruding tongue
  4. single palm crease
  5. broad hand with short fingers
  6. Flattened facial features
  7. Short neck and height
  8. congenital heart disease and gastrointestinal anomalies
4. complications
  1. Heart problems
  2. Gut problems
  3. Hearing & vision problems
  4. Increased risk of infection
  5. Dementia
  6. Thyroid problems
5. Risk Factors
  1. Advancing maternal age
  2. Having had one child with Down syndrome
  3. Being carriers of the genetic translocation for Down syndrome
6. Effect on family
  1. Parents
  2. Siblings
  3. Financially
  4. Sources of social support
    1. Relatives and friends
    2. Parent support groups
7. Rehabilitation
  1. Care at home and in community
  2. Physical & social activities
  3. stimulation & encouragement
  4. Care from health professionals
  5. Early Intervention & Educational Therapy
UAE laws regarding abortion
1. Not allowed unless
  1. It will harm the mother
  2. Baby will die eventually after birth

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Child with Abnormal faces

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	Erstellt von Nadeen Adi vor mehr als 9 Jahre