Lesson 1 OB

• National Health Goals of 2020 speak directly of genetic diseases and screening
• National Health Goals of 2020 related to genetic screening

  • All newborns be screened shortly after birth for conditions mandated by law
  • Reduce the proportion of children diagnosed with a disorder through newborn blood spot screening who experienced developmental delay requiring special education services
  • Increase the proportion of screen-positive children who receive follow-up testing within the recommended time
  • Increase the proportion of youth with special health care needs whose health care provider has discussed transition planning from pediatric to adult health care
  • Reduce the number of children and youth with disabilities (aged 21 years and younger) living in congregate care residences
• Genetics


  The study of the way genetic disorders occur
• Genetic Assessment


  1. Detailed family history of 3 generations

  2. Physical examination of both parents

  3. Laboratory assays of blood, amniotic fluid, maternal and fetal cells
• First trimester screening for pregnant women

  1. Routine sonogram screening (a nuchal translucency scan)

  2. Analysis of maternal serum levels of A-fetoprotein (MSAFP), pregnancy-associated plasma protein A (PSPP-A and free beta HCG) to evaluate for chromosomal disorders in the fetus
• Chromosomes


  Threadlike structure of nucleic acid and protein found in the nucleus of most living cells, carrying genetic information in the form of genes
• Genetic testing for women 35+

  1. Circulating cell-free DNA testing

  2. Chorionic villi sampling (CVS)

  3. Amniocentesis
• Karyotype


  A graphic representation of chromosomes present when fetal chromosomes are photographed and displayed
• Genetic Disorders


  Disorders that can be passed from one generation to the next
• Cytogenetics


  The study of chromosomes by light microscopy and the method by which chromosomal aberrations are identified
• Homozygous


  If two genes (from father & mother) are both dominant or recessive
• Heterozygous


  If one gene is dominant and the other is recessive
• Purpose of Genetic Counseling and Testing

  • Provide concrete accurate information about the process of inheritance and inherited disorders
  • Reassure people who are concerned their child may inherit a particular disorder that the disorder will not occur
  • Allow people who are affected by inherited disorders to make informed choices about future reproduction
  • Allow people to pursue potential interventions that may exist such as fetal surgery
  • Allow families to begin preparation for a child with special needs
• When to have Genetic Counseling

  • Before a first pregnancy
  • Before marriage
  • After the birth of first child with disorder
  • Before the second pregnancy
• Who needs Genetic Counseling

  • A couple who has a child with congenital disorder or an inborn error of metabolism
  • A couple whose close relatives have a child with genetic disorder such as chromosomal disorder or an inborn error of metabolism
  • Any individual who is a known carrier of a chromosomal disorder
  • Any individual who has inborn error of metabolism or chromosomal disorder
  • A consanguineous couple
  • Any woman older than 35 years of age and any man older than 55years old
  • Couples of ethnic backgrounds in which specific illness are known to occur
• Reproductive Alternatives


  • Alternative insemination by donor (AID)
  • Surrogate embryo transfer
  • Surrogate mother
  • Adoption
• Participation by couples or individuals in genetic screening must be elective
• People desiring generic screening must sign an informed consent for the procedure
• Results must be interpreted correctly yet provided to the individuals as quickly as possible
• The results must not be withheld from the individuals and must be given only to those persons directly involved
• Trisomy 13 syndrome (Patau Syndrome)


  • Severely cognitively challenged, has extra chromosome 13
  • Cleft lip and palate
  • Heart disorders
  • Abnormal genitalia
  • Microcephaly
  • Eyes that are smaller than usual (microphthalmos) or absent
  • Low-set ears
  • Do not survive beyond early childhood
• Trisomy 18 Syndrome (Edwards Syndrome)


  • Has 3 copies of chromosome 18
  • Severely cognitively challenged
  • Small for gestational age
  • Have markedly low-set ears
  • Small jaw
  • Congenital heart defects
  • Misshapen fingers and toes
  • Soles of feet is rounded instead of flat (rocker-bottom feet)
  • Do not survive beyond infancy
• Cri-du-Chat Syndrome


  • Missing portion of chromosome 5
  • Abnormal cry
  • A small head, wide set-eyes, downward slant to the palpebral fissure of the eye
  • A recessed mandible
  • Severely cognitively challenged
• Turner Syndrome


  • Has only one functional X chromosome
  • Child is short, small, and non-functional ovaries (sterile)
  • Secondary sex characteristics not developed except for pubic hair
  • Hairline at the nape is low set, neck appears to be webbed and short
  • Disorder can be detected in sonogram during pregnancy
• Klinefelter Syndrome


  • Are males with extra X chromosome
  • Not noticeable at birth, secondary sex characteristic do not develop
  • Testes remains small
  • Develop gynecomastia
  • Increased risk of breast cancer
  • Karyotyping can be used to reveal additional X chromo
• Fragile X Syndrome


  • Most common cause of cognitive challenge in males
  • Before puberty, boys show maladaptive behaviors (hyperactivity, aggression, or autism)
  • Reduced intellectual function, marked deficit in speech and arithmetic
  • On physical exam – large head, long face with high forehead, prominent lower jaw, protruding ears and obesity
  • With Hyper extensive joints and cardiac disorders
  • They are fertile and can reproduce
  • Carrier females may show some evidence of physical and cognitive characteristics
  • Intellectual function cannot be improved
  • Treatment includes, combinations of stimulants, alpha agonist, atypical antipsychotics, serotonin reuptake inhibitors may improve poor concentration and impulsivity
• Down Syndrome (Trisomy 21)

  • Common for pregnant women 35 years old
  • Diagnosis- sonogram in utero
  • Nose is broad and flat, eyelids have extra fold at inner canthus (epicanthal fold), palpebral fissure slants laterally upward
  • Iris has white specks (Brushfield spots)
  • Tongue protrudes from the mouth
  • Back of head is flat, neck short, extra pad of fats at the base of the head
  • Low set ears, poor muscle tone (newborn –rag doll appearance)
  • Fingers are short and thick, little finger is curved inward
  • Wide space between first and second toes and same with fingers
  • Simian line – single horizontal crease line in the palm
  • Cognitively challenged but trainable
  • Congenital heart diseases present
  • Life span limited to 50-60 years
• Childhood Tumors


  • Retinoblastoma (Chromosome 13)
  • Wilms tumor (chromosome 11)
  • Neuroblastoma (chromosome 1 & 11)
• Siblings of children with these cancers need to be tested if they carry the gene aberrations as well- so early diagnosis and therapy can be done
• Volleyball


  A game first developed by William G. Morgan in 1896
• William G. Morgan graduated from Springfield College in Massachusetts


  1895
• After graduation, William G. Morgan took a position as physical director of the Holyoke Young Men's Christian Association</b>
• The main activity at the YMCA was basketball, a relatively strenuous sport for the businessmen who used the facilities of the gymnasium
• Some older men did not like basketball because of the roughness of the game
• At a YMCA Conference at Springfield College, Mr. Morgan publicized a new game


  1896
• How the new game was played

  1. A net 6 feet 6 inches was stretched across the gymnasium

  2. The main objective was to hit the ball back and forth over the net with the hands

  3. The game was started with a serve

  4. The server was allowed three "outs" after which the opposite team was permitted to serve

  5. To constitute an out, the ball had to land out-of-bounds or hit the floor on a second bounce
• The game was introduced as "Mintonette"
• After watching the game, a faculty member of Springfield College, Dr. Alfred T. Halstead, recommended that the name be changed to volleyball
• Shortly after the game's invention, Mr. Morgan drew up specifications for a special ball
• Several rule changes had been made and volleyball became very popular with schools, colleges, playgrounds and the armed forces

  1912