Genetic Testing ● Trisomy 18 (Edawrds Syndrome) - 3
Common Tests for Determination of Genetic copies of chromosome 18 (either
Abnormalities egg/sperm extras) thus affecting
growth & development
A. Before Pregnancy: ● Turner syndrome – (X) is missing
a. Karyotyping (partial/full)
- a test to identify and evaluate the size,
shape, and number of chromosomes in a Common Tests for Determination of Genetic
sample of body cells. Abnormalities
- Extra, missing, or abnormal positions of
chromosome pieces can cause problems B. During Pregnancy:
with a person's growth, development, and 1. MSAFP (Maternal Serum
body functions. Alpha-fetoprotein)
–The presence of AFP, a plasma protein
Purposes: normally produced by the fetus, in the
- Determine whether the chromosomes of an mother's blood.
adult have an abnormality that can be –All pregnant women should be offered the
passed on to a child. MSAFP screening, but it is especially
- Determine whether a chromosome defect recommended for:
is preventing a woman from becoming 1. Women who have a family history of
pregnant or causing a miscarriage birth defects
- Determine whether a chromosome defect 2. Women who are 35 years or older
is present in a fetus; may be done to 3. Women who used possible harmful
determine whether chromosomal problems medications or drugs during pregnancy
may have caused a fetus to be stillborn 4. Women who have diabetes
- Determine the cause of a baby's birth
defects or disability ● High levels
- Help determine the appropriate treatment a. neural tube defects such as spina bifida or
for some types of cancer anencephaly
- Identify the sex of a person by b. defects with the esophagus or a failure of
determining the presence of the Y your baby's abdomen to close. However, the
chromosome. This may be done when a most common reason for elevated AFP levels is
newborn's sex is not clear. inaccurate dating of the pregnancy.
Normal Results ● Low levels & abnormal levels of hCG and
● Females: 44 autosomes & 2 sex estriol:
chromosomes (XX), written as 46, XX – baby may have Trisomy 21(Down syndrome),
● Males: 44 autosomes & 2 sex Trisomy 18 (Edwards Syndrome), or another
chromosomes (XY), written as 46, XY type of chromosome abnormality.
ABN Results:
● Down syndrome or Trisomy 21 – 2. Chorionic Villus Sampling
(47chromosomes) full or partial – generally done when either you or the father
● Klinefelter syndrome - (XXY) has a disease that runs in the family (genetic
● Philadelphia chromosome – exchange of disorder)
chromosome 9 & 22 ; can cause chronic
myelogenous leukemia
➢ can be collected by putting a thin C. Ultrasonography (Obstetric
flexible tube (catheter) through the sonography)
vagina and cervix into the placenta. – The application of medical ultrasonography to
➢ can also be collected through a long, obstetrics, where sonography is used to
thin needle put through the belly into visualize the embryo or fetus in the mother's
the placenta. uterus (womb).
➢ Ultrasound (US) guides the catheter or – The procedure is often a standard part of
needle into the correct spot for prenatal care, as it yields a variety of
collecting the sample. information regarding the health of the
mother and of the fetus, as well as regarding
3. Amniocentesis the progress of the pregnancy.
– a procedure whereby a fluid sample is
removed from the amniotic sac for analysis. 6. Fetoscopy
➢ fluid is removed by placing a long – An endoscopic procedure during pregnancy to
needle through the abdominal wall into allow access to the fetus, the amniotic cavity,
the amniotic sac. the umbilical cord, and the fetal side of the
➢ Sometimes, the woman's skin is placenta. A small (3-4 mm) incision is made in
injected first with a local anesthetic, the abdomen, and an endoscope is inserted
but this is not usually necessary. through the abdominal wall and uterus into the
➢ The amniocentesis needle is typically amniotic cavity.
guided into the sac with the help of
ultrasound imaging performed either 7. Preimplantation Genetic Diagnosis (Embryo
before or during the procedure Screening) = PIGD/PGD
– procedures performed on embryos before
4. Percutaneous Umbilical Blood Sampling implantation.
(PUBS) -parents can choose embryos that have no
– a diagnostic procedure in which a doctor genetic conditions (thru use of IVF)
extracts a sample of fetal blood from the vein – Used to denote procedures that do not look
in the umbilical cord. for a specific disease but to identify embryos
– This blood can be analyzed to detect at risk.
chromosomal defects or other abnormalities. – 1 or 2 blastomere cells are removed @ biopsy
– PUBS aka umbilical vein sampling, fetal blood from pre-implantation stage 6-10 cell stage (d3
sampling, and cordocentesis development)
5. Fetal Imaging Utilization of the Nursing Process in the
A. Computed Tomography (CT) Care of Clients Seeking Services Before &
CAUTION: Women should always inform their During Conception in the Prevention of
physician and the CT technologist if there is Genetic Alteration (Genetic Screening &
any possibility that they are pregnant. Counseling)
B. Magnetic Resonance Imaging (MRI)
– MRI or nuclear magnetic resonance imaging I. Assessment
(NMRI), is primarily a medical imaging A. History
technique most commonly used in radiology to 1. Detailed family history: age, ethnic
visualize the internal structure and function of background, instances of spontaneous
the body. miscarriage, children died at birth,
2. Extensive prenatal history: family
genogram
Genogram
– a pictorial display of a person's family
relationships and medical history.
– It goes beyond a traditional family tree by
allowing the user to visualize hereditary
patterns and psychological factors that
punctuate relationships.
– It can be used to identify repetitive patterns
of behavior and to recognize hereditary
tendencies
3. Health history: genetic genogram
determination - obtain health records
of affected individuals
B. Physical Assessment
❖ of any family member with a disorder
❖ child’s siblings
❖ couple seeking counseling
C. Diagnostic testing