ncm109 prelims

• 94% of all maternal deaths occur in low and lower middle-income countries
• Youth adolescents face a higher risk of complications and death due to pregnancy
• Skilled care before, during, and after childbirth can save the lives of women and newborns
• Causes of maternal deaths

  • Severe bleeding, infections, high blood pressure during pregnancy, complications from delivery, unsafe abortion
• Complications during and following pregnancy and childbirth are the main causes of maternal deaths
• Major complications accounting for nearly 75% of all maternal deaths

  • Severe bleeding (mostly bleeding after childbirth)
  • Infections (usually after childbirth)
  • High blood pressure during pregnancy (pre-eclampsia and eclampsia)
  • Complications from delivery
  • Unsafe abortion
• Causes of the remainder of maternal deaths

  • Infections such as malaria
  • Chronic conditions like cardiac diseases or diabetes
• Top 4 causes of maternal mortality in the Philippines are labor complications, pregnancy-related hypertension, postpartum hemorrhage, and unsafe abortion
• Neonatal mortality


  Children who die before their 28th day
• Infant mortality


  Children who die before they reach one year old
• Genes are the basic units of heredity that determine both the physical and cognitive characteristics of people
• Genetic counseling can result in making individuals feel “well” or free of guilt if they discover that the disorder they were worried about was not inherited
• Genetic counseling can inform individuals that they are carriers of a trait responsible for a child’s condition, which can cause guilt and self-blame
• Laboratory analysis

  1. Karyotyping: Cells are allowed to grow until they reach metaphase, stained, placed under a microscope, and photographed to identify chromosomes according to size, shape, and stain

  2. Maternal Serum Screening: Alpha-fetoprotein (AFP) is a glycoprotein produced by the fetal liver that reaches a peak in maternal serum between the 13th and 32nd week of pregnancy, the level is elevated with fetal spinal cord disease
• Maternal Serum Screening

  Alpha-fetoprotein (AFP) is a glycoprotein produced by the fetal liver that reaches a peak in maternal serum between the 13th and 32nd week of pregnancy. Elevated with fetal spinal cord disease and decreased in a fetal chromosomal disorder such as trisomy 21
• Chorionic Villi Sampling


  Diagnostic technique involving the retrieval and analysis of chorionic villi from the growing placenta for chromosome or DNA analysis. Highly accurate and yields no more false-positive results than amniocentesis
• Amniocentesis


  Withdrawal of amniotic fluid through the abdominal wall for analysis at the 14th to 16th week of pregnancy. Allows for karyotyping of skin cells found in the fluid and analysis of AFP or acetylcholinesterase. Confirmation of elevated AFP level not a false-positive reading caused by blood in the fluid
• Percutaneous Umbilical Blood Sampling


  Removal of blood from the fetal umbilical cord at about 17 weeks using an amniocentesis technique. Allows analysis of blood components and more rapid karyotyping than with only skin cells
• Fetal Imaging


  Diagnostic tools like MRI and ultrasound used to assess a fetus for general size and structural disorders of internal organs, spine, and limbs. Ultrasound used concurrently with amniocentesis
• Fetoscopy


  Insertion of a fiberoptic fetoscope through a small incision in the mother’s abdomen into the uterus and membranes to visually inspect the fetus for gross abnormalities. Can be used to confirm ultrasound findings, remove skin cells for DNA analysis, or perform surgery for a congenital disorder such as a stenosed urethra
• Preimplantation Diagnosis

  Possible for in vitro fertilization procedures. Ovum may be removed from the uterus by lavage before implantation and studied for DNA analysis. Provides genetic information extremely early in a pregnancy
• Common chromosomal disorders

  • Trisomy 13 Syndrome (Patau syndrome) - child has an extra chromosome 13 and is severely cognitively impaired
• Common Chromosomal Disorders

  • Trisomy 13 Syndrome (47XY13 or 47XX13)
  • Trisomy 18 Syndrome (47XY18 or 47XX18)
  • Cri-du-Chat Syndrome (46XX5p or 46XY5P)
  • Turner Syndrome (45X0)
  • Klinefelter Syndrome (47XXY)
  • Fragile X Syndrome (46XY23q)
• In Trisomy 13 Syndrome (Patau syndrome), the child has an extra chromosome 13 and is severely cognitively challenged. Incidence is low, approximately 0.45 per 1000 live births. Common findings include midline body disorders, heart defects, microcephaly, abnormal genitalia, and more. Most children do not survive beyond early childhood.
• In Trisomy 18 Syndrome, children have three copies of chromosome 18. Incidence is approximately 0.23 per 1000 live births. Common features include being small for gestational age, low-set ears, congenital heart defects, misshapen fingers and toes, and more. Most children do not survive beyond early infancy.
• Cri-du-Chat Syndrome is the result of a missing portion of chromosome 5. Children with this syndrome have an abnormal cry, small head, wide-set eyes, and are severely cognitively challenged.
• Turner Syndrome (gonadal dysgenesis) is characterized by having only one functional X chromosome. Features include short stature, streak ovaries, sterility, underdeveloped secondary sex characteristics, and more. Incidence is approximately 1 per 10,000 live births.
• Klinefelter Syndrome is characterized by males having an extra X chromosome. Features may not be noticeable at birth but can include underdeveloped secondary sex characteristics, small testes, gynecomastia, and an increased risk of male breast cancer. Incidence is about 1 per 1000 live births.
• Fragile X Syndrome is the most common chromosomal disorder
• Incidence of male breast cancer is about 1 per 1000 live births
• Karyotyping


  Used to reveal the additional X chromosome
• Fragile X syndrome is the most common cause of cognitive challenge in males
• Fragile X syndrome


  An X-linked disorder where one long arm of an X chromosome is defective, resulting in inadequate protein synaptic responses
• Incidence of Fragile X syndrome is about 1 in 1000 live births
• Before puberty, boys with Fragile X syndrome may demonstrate maladaptive behaviors such as hyperactivity and autism
• Boys with Fragile X syndrome may have reduced intellectual functioning, with marked deficits in speech and arithmetic
• Boys with Fragile X syndrome may be identified by the presence of a large head, a long face with a high forehead, a prominent lower jaw, and large protruding ears
• Hyperextensive joints and cardiac disorders may also be present in boys with Fragile X syndrome
• After puberty, enlarged testicles may become evident in individuals with Fragile X syndrome
• Individuals with Fragile X syndrome are fertile and can reproduce