Prelim

• Inherited or genetic disorders can be passed from one generation to the next and result from disorders in gene or chromosome structure, affecting 5% to 6% of newborns
• Genetic disorders may occur when an ovum and sperm fuse or even earlier, in the meiotic division phase of the gametes (ovum and sperm)
• Genes are the basic units of heredity, composed of segments of DNA woven into strands in the nucleus of all body cells to form chromosomes
• Humans typically have 46 chromosomes in each cell, except for sperm and ovum, which carry only half of the chromosome number, or 23 chromosomes each
• A person's phenotype refers to their outward appearance or the expression of genes, while genotype refers to their actual gene composition
• A person's genome is the complete set of genes present, abbreviated as 46XX or 46XY to designate the total number of chromosomes and the sex chromosomes present
• Autosomal dominant conditions occur when a single copy of the disease-associated mutation is enough to cause the disease
• 1. linked recessive diseases most often occur in males and examples include red-green color blindness and hemophilia A
• Childhood disorders with higher-than-usual incidence often result from multiple gene combinations possibly combined with environmental factors, not following Mendelian laws
• Karyotyping or fluorescent in situ hybridization is the process of identifying the number of chromosomes and specific parts of chromosomes
• Abnormalities can occur if sperm or ovum with 24 or 22 chromosomes fuses with a normal sperm or ovum, resulting in 47 or 45 chromosomes, which is not compatible with life and could lead to abortion
• Genetic counselling aims to provide concrete, accurate information about the process of inheritance and inherited disorders, reassure concerned individuals, allow informed choices about future reproduction, and offer support to those affected by genetic disorders
• Individuals who should go for genetic counselling include couples with a child with a congenital disorder, those with close relatives with a genetic disorder, known balanced translocation carriers, individuals with inborn errors of metabolism or chromosomal disorders, consanguineous couples, women over 35 years, and men over 55 years, as well as couples of ethnic backgrounds where specific illnesses are known to occur
• Nursing responsibilities in genetic counselling involve explaining procedures, genetic screening tests, supporting couples during the wait for test results, assisting in values clarification, planning, and decision making based on test results
• History-taking in genetic counselling involves obtaining and documenting diseases in family members for a minimum of three generations
• Physical assessment in genetic counselling includes assessing any family member with a disorder, the child's siblings, and the couple seeking counselling
• Diagnosis testing methods in genetic counselling:

  • Karyotyping: involves taking a sample of peripheral venous blood or cells from the buccal membrane
  • Maternal serum screening: uses alpha-fetoprotein (AFP) to assess pregnancy between the 13th and 32nd week
  • Chorionic villi sampling (CVS): retrieves and analyzes chorionic villi for chromosome or DNA analysis
  • Amniocentesis: withdraws amniotic fluid for analysis at the 14th to 16th week of pregnancy
  • Percutaneous umbilical blood sampling (PUBS): removes blood from the fetal umbilical cord at about 17 weeks
  • Fetal imaging: uses MRI and ultrasound to assess the fetus for size and structural disorders
  • Fetoscopy: visually inspects the fetus for gross abnormalities through a fiberoptic fetoscope
  • Preimplantation diagnosis: possible for in vitro fertilization procedures
• High-risk pregnancy involves a higher-than-normal chance of problems/complications for the woman and fetus, with factors like psychological, social, and physical issues categorizing a pregnancy as high risk
• Factors that can lead to damage to the endometrium, causing a vicious cycle of bleeding, contractions, and placental separation, include age, race, ethnicity, hereditary factors, previous abortion, previous placenta previa, multiple births, endometritis, VBAC, and lifestyle factors like smoking
• Ultrasonography measures the response of sound waves against solid objects, with applications like predicting fetal maturity using biparietal diameter and assessing amniotic fluid volume to estimate fetal health
• Screening procedures for high-risk pregnancies include electrocardiography, magnetic resonance imaging, maternal serum alpha-fetoprotein, triple screening, chorionic villi sampling, amniocentesis, percutaneous umbilical blood sampling, amnioscopy, fetoscopy, and biophysical profile
• Bleeding disorders during pregnancy can occur in different trimesters, leading to complications like abortion/miscarriage, ectopic pregnancy, hydatidiform mole, incompetent cervix, placenta previa, abruptio placenta, and preterm labor
• Abortion is the medical term for the interruption of a pregnancy before a fetus is viable, with causes including abnormal fetal development, immunologic factors, implantation abnormalities, inadequate progesterone, systemic infections, and ingestion of teratogenic drugs
• Types of spontaneous abortion include threatened (scant, bright red bleeding, slight cramping, no cervical dilation), inevitable/imminent (moderate bleeding, cramps, open cervix, tissue passage), complete (slows bleeding within 2 hrs, complete placenta with fetus), incomplete (severe bleeding, cramps, open cervix with fetal or incomplete placental tissue passage), missed (none to scanty bleeding, no fetal heart tones, no tissue passage), recurrent/habitual (3 or more consecutive miscarriages), and septic (mild to severe bleeding, severe cramps)
• Different types of placental abruption:

  • Concealed, covert, or central type
  • Marginal, overt, or external bleeding type

  
• Spontaneous abortion types:

  • Threatened abortion
  • Inevitable abortion
  • Incomplete abortion
  • Complete abortion
  • Missed abortion
  • Shows cervical os (opening to the uterus) and fetal cardiac activity (heartbeat of the fetus)

  
• Rh isoimmunization pathogenesis:

  • Abnormal proliferation and degeneration of trophoblastic villi
  • Cells fill with fluid, appear as clear, grape-sized vesicles
  • Gestational Trophoblastic Disease
  • Risk factors: low protein intake, women over 35, Asian women, blood group A marrying O
• Ectopic pregnancy:

  • Implantation outside the uterine cavity
  • Types: tubal, cervical, abdominal, ovarian
  • Assessment findings: vaginal bleeding, tubal rupture signs, abdominal pain, positive pregnancy test
• Incompetent cervix:

  • Mechanical defect causing cervical effacement, dilation, and expulsion of products of conception
  • Associated with increased maternal age, congenital defects, trauma to cervix
• Premature cervical dilatation:

  • Painless contractions leading to delivery of a dead or non-viable fetus
  • Associated with history of abortions, relaxed cervical os
  • Treatment: bed rest, avoidance of heavy lifting, elective cervical cerclage
• Preterm labor:

  • Labor between 20th and 37th week of gestation
  • Associated with dehydration, infections, small stature
  • Treatment: bed rest, hydration, monitoring, tocolytics, corticosteroids
• Spontaneous abortion types include threatened, inevitable, incomplete, complete, and missed abortions

  
• Factors contributing to endometrial damage leading to a vicious cycle include age, race, ethnicity, hereditary or familial factors, previous abortion, previous placenta previa, multiple births, endometritis, VBAC (vaginal birth after cesarean delivery), and lifestyle factors like smoking
• A cesarean section (C-section) is a surgical procedure where a baby is delivered through an incision in the mother's abdomen and uterus

  
• Preterm labor management includes frequent prenatal visits, evaluating and restricting activity/lifestyle as necessary, monitoring chronic illnesses, treating acute illnesses promptly, providing client teaching on symptoms of preterm labor, and prompt reporting to a physician
• Premature rupture of fetal membranes can occur any time after the period of viability but before the onset of labor, often associated with infection of the membranes (Chorioamnionitis) and occurs in 5-10% of pregnancies
• Diagnosis of premature rupture of membranes includes the Nitrazine test, Ferning test, and sterile speculum examination for direct visualization of fluid from the cervical os
• Complications of premature rupture of membranes include maternal infection/chorioamnionitis, cord prolapse, and premature labor
• Hyperemesis gravidarum is characterized by pernicious or persistent vomiting, dehydration, ketonuria, significant weight loss, and can be managed by monitoring intake and output, IV fluids, antiemetics, and gradual reintroduction of food
• Gestational hypertension can lead to preeclampsia, characterized by elevated blood pressure, proteinuria, and edema, with management varying based on the severity of the condition