Assessment for genetic disorder begins with a detailed family history, preferably of ______ generations.
3 generations
Assessment for genetic disorder includes collecting the following data: (3)
☑family history
☑physical examination (of both parents and the affected children)
☑series of laboratory assays of blood, amniotic fluid and maternal and fetal cells.
Genetic testing is not mandatory for couples and individuals.
Who are those recommended to take genetic testing? GIVE AT LEAST 5 examples.
☑Couples with previous children with congenital disorders or
inborn errors of metabolism.
☑Couples with close relatives who have genetic disorders.
☑Individuals who are known carriers of a chromosomal disorder.
☑Individuals with a chromosomal disorder or inborn error of
metabolism.
☑Consanguineous couples or closely related couples.
☑Women older than 35 and men older than 55 years of age
☑Couples of ethnic backgrounds where genetic diseases are
known to occur.
What is our nursing role in genetic assessment and counseling?
1. Obtain initial family history.
2. Assist (the doctor) with the physical examination.
3. Obtain blood serum for analysis.
4. Direct counseling (for qualified nurses only)
What blood type combination are most likely to have genetic disorder?
AB and AB combination
These are threadlike structures of nucleic acid and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.
C. Chromosomes
What are the typical diagnosis related to the area of genetic disorder?
1. Coping impairment related to continuation of genetic affected pregnancy.
2. Fear related to outcome of genetic screening tests.
3. Grief related to inheritance pattern of the family's inherited disorder.
4. Knowledge deficiency related to inheritance pattern of the family's inherited disorder.
5. Readiness for education related to potential for genetic transmission of disease.
6. Altered sexual activity related to fear of conceiving a child with genetic disorder.
The study of chromosomes by light microscopy and the method by which chromosomal aberrations are identified.
A. Cytogenesis
A graphic representation of the chromosomes present.
C. Karyotype
What are the INVASSIVE diagnostic test options to diagnose genetic disorder?
Invassive procedures possess risk of miscarriage, infection and deformation to developing fetus.
1.Preimplantation diagnosis
2.CVS or chorionic villi sampling
3.Amniocentesis
4.PUBS or Percutaneous Umbilical Blood Sampling
5.Fetoscopy
What are the NON-INVASSIVE diagnostic test options to diagnose genetic disorder?
Nuchal translucency
cfDNA
Maternal quadruple marker
Fetal anatomy ultrasound
Newborn screening
The basic unit of heredity that determines both the physical and cognitive characteristics of people.
A. Genes
In humans each cells contains ______ chromosomes;
______autosomes and _____ are sex chromosomes.
each cell contains 46 chromosomes; 44 of these are autosomes and 2 of them are sex chromosomes
Two like genes.
Alleles
The chromosome that does not have a mirror match is the ____.
sex chromosome
xx for female
xy for male
_______ determines the outward appearance or expression of a gene.
phenotype
_______ refers to the actual gene composition.
genotype
A person's normal genome composes of about ____ to ____ number of genes present.
50,000 to 10,000
What is the abbreviation of a normal genome?
46XX or 46XY
p stands for
short arm
q stands for
long arm
47XX13+ OR 47XY13+
Trisomy 13 or also called as the Patau syndrome
47XX18+ or 47XY18+
Trisomy 18 or also known as the Edward syndrome
46XX5P- or 46XY5P-
Cri-du-chat syndrome
47XX21+ or 47XY21+
Down Syndrome
45X0
Turner's Syndrome
47XXY
Klinefelter Syndrome
46XY23Q
Fragile X syndrome
Having two like genes for a trait is said to be _______.
homozygous
If the genes differ they are _______.
heterozygous
Cell sample is obtained from day 3 or day 5 of the embryo prior to implantation during IVF process.
Preimplantation diagnosis
It is the biopsy of the placenta and can be used as a diagnostic test for karyotyping.
Chorionic villi sampling
Collection of amniotic fluid containing fetal skin cells through the maternal abdomen. This can also be use to test for karyotype.
amniocentesis
A diagnostic for fetal karyotype and fetal blood disease where fetal umbilical blood sampling is obtained through the maternal abdomen.
PUBS Percutaneous umbilical blood sampling
PUBS can also be called as
cordocentesis or funicentesis
Samples from the PUBS can be use to obtain blood samples to test for:(4)
complete blood count
direct coombs test
blood gases
karyotyping
The direct coombs test determines whether the baby has _______.
