Midterms 9N OB

• NCM9N- LECTUREOB
• National Health Goals of 2020


  • 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 such disorder occurs
• Genetics is a constantly changing field of study that is why it is important for nurses and other health workers to be updated with the current developments so as to appreciate how these developments affects the family and the patient
• Genetic Assessment


  • Detailed family history of 3 generations
  • Physical examination of both parents
  • Laboratory assays of blood, amniotic fluid, maternal and fetal cells
• Routine sonogram screening (a nuchal translucency scan)

  1. Nuchal translucency- is the normal fluid-filled subcutaneous space identified at the back of the fetal neck during the late first trimester and early second trimester (11 -13 weeks)

  2. Normal nuchal measurement is under 3mm

  3. An increased nuchal translucency increases the probability that the fetus will be affected by a chromosomal abnormality, congenital cardiac defects or intrauterine fetus demise

  4. A low nuchal measurement less than 2.5mm places the pregnancy in a low risk for problems such as fetal heart abnormalities
• 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


  A threadlike structure of nucleic acid and protein found in the nucleus of most living cells, carrying genetic information in the form of genes
• Non-invasive blood tests for women 35 years old

  • Circulating cell-free DNA testing
  • Chorionic villi sampling (CVS)
  • Amniocentesis
• The CVS and amniocentesis are diagnostic test for karyotype – a graphic representation of chromosomes present when fetal chromosomes are photograph and displayed which can provide a definite answer about the presence or absence of disorder
• The decision to undergo CVS or amniocentesis is a major one for the couple with love
• Sample Nursing Diagnosis


  • Decisional conflict related to continuation of genetic affected pregnancy
  • Fear related to outcome of genetic screening test
  • Situational low self-esteem related to identified chromosomal disorder
  • Deficient knowledge related to inheritance pattern of the family's inherited disorder
  • Readiness for enhanced knowledge related to potential for genetic transmission of disease
  • Altered sexuality pattern related to fear of conceiving child with a genetic disorder
• Genetic Disorders are disorders that can be passed from one generation to the next
• Genetic Disorders may occur due to occupational hazards
• Genetic Disorders occurs at the moment egg and sperm fuse or even earlier during meiotic division
• Some Genetic Disorders do not affect life in utero, until birth of fetus
• 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 the genetic counseling

  • Before a first pregnancy
  • Before marriage
  • After the birth of first child with disorder
  • Before the second pregnancy
• Who need 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
• Common Chromosomal Disorders


  • Trisomy 13 (Patau Syndrome)
  • Trisomy 18 (Edwards Syndrome)
  • Cri-du-Chat Syndrome
  • Turner Syndrome
  • Klinefelter Syndrome
  • Fragile X Syndrome
  • Down Syndrome (Trisomy 21)
• 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
• RA 9288- Newborn Screening Act
• Genetic Disorders Covered by Newborn Screening

  • Phenylketonuria (PKU)
  • Galactosemia
  • G6PD (Glucose-6 Phosphate Dehydrogenase)
  • Congenital Hypothyroidism
  • Congenital Adrenal Hyperplasia
• Management of Phenylketonuria (PKU)

  1. Lifetime low protein diet

  2. Low phenylalanine diet

  3. Lofenalac (milk)
• Effects of Galactosemia


  • Hepatomegaly (enlargement of the liver)
  • Cirrhosis (develops jaundice)
  • Renal failure
  • Bilateral cataracts
  • Brain damage
  • Ovarian failure
• G6PD (Glucose-6 Phosphate Dehydrogenase)


  • Common in: African-American, Asia, Jewish, Mediterranean
  • Sex linked recessive disorder, linked to favism
• Management of G6PD


  Maintenance of RBC lifetime
• Symptoms of G6PD


  • Anemia, hemolysis, jaundice, splenomegaly
  • Aplastic crisis- temporary bone marrow failure caused by chronic hemolysis
• Symptoms of Congenital Hypothyroidism


  • Excessive sleeping
  • Short and fat extremities
  • Umbilical hernia
• Treatment of Congenital Hypothyroidism

  1. Oral med of synthetic thyroid hormone- Levothyroxine with small amount of water or milk

  2. Child will take med indefinitely and increasing dose at it grows
• Symptoms of Congenital Adrenal Hyperplasia

  • Ambiguous genitalia
  • Sexual maturation (3-4 y.o.) e.g. pubic hair
  • No breast, menstruation for female