NCM 109:

CARE OF MOTHER, CHILD AT RISK OR WITH PROBLEMS: ACUTE AND

CHRONIC (RLE)
ASYNCHRONOUS ACTIVITY #1

Submitted to:
Ms. Viamarie B. Bulagao, RN, CNN, MN

MEMBERS:
Delin, Girlie
Fenis, Carol Ann Joyce
Medrano, Andrea Marie
Sabino, Vienne Danielle
Salvacion, Jaymee Abigail
Señora, Chastine Kaye
Sodela, Rosabel
Sublay, Kimberly Khazel C.
Valdez, Maica Andrea M.
Villareal, John Roie
 TRISOMY 18

DESCRIPTION
Trisomy 18, also called Edwards syndrome, is a chromosomal disorder characterized by having 3
copies of chromosome 18 instead of the usual 2 copies. People with trisomy 18 often have slow growth
before birth (intrauterine growth retardation), low birth weight, congenital heart defects and abnormalities
of other organs that develop before birth. Other features of trisomy 18 include a small, abnormally shaped
head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to the presence of several
life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first
month. Five to 10 percent of children with this condition live past their first year, and these children often
have severe intellectual disability. Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more
common in pregnancy, but many affected fetuses do not survive to term. Although women of all ages can
have a child with trisomy 18, the chance of having a child with Trisomy 18 increases as a woman gets
older.

Shortening and narrowing of the mandible and

chin Overlapping Fingers

PREVALENCE
The trisomy 18 or Edwards syndrome affects 1 in almost 5000 to 6000 live births. It occurs
randomly at different ages of the mothers when they get but most commonly occur at older age groups. In
the Philippines, it is still common that infections and infectious diseases are the ones leading the most
causes of infant mortality in the Philippines. Since this syndrome affects the limit on life of the affected
child, there's only a 52.5% chance that they may live longer than 1 week. While the percentage of affected
children who may live longer than 5 years is 12.3% only.

ASSESSMENT AND DIAGNOSTIC

● During pregnancy, a healthcare provider will offer various assessments to determine if the child
has Edwards syndrome symptoms (trisomy 18). Among these are:
● Genetic testing is the only way to confirm an Edwards syndrome diagnosis.
● Prenatal screening is essential for early detection.
● A pregnancy ultrasound and blood test can detect and diagnose Edwards syndrome during or after
10 to 14 weeks of pregnancy. The screening is usually combined with a screening for Down
Syndrome and Patau's Syndrome.
● If there is an increased risk of Edward's Syndrome, invasive testing such as chorionic villus
sampling (analyzing placenta cells) or amniocentesis will be performed (sampling the amniotic
fluid). Invasive tests increase the risk of miscarriage and should be discussed thoroughly with the
parents.
● Edwards syndrome is not always suspected during pregnancy and is only discovered after the
baby is born. If the doctor suspects the baby has Edwards syndrome after birth, a blood sample is
drawn to check for extra copies of chromosome 18.

DIAGNOSTIC

● Cell-Free DNA Screening (cfDNA)

- It is a simple Blood test that is done after 10 weeks of pregnancy and until delivery which
screens for any genetic conditions.
● Amniocentesis and Chorionic villus sampling
- It is an invasive test where the doctor would take a sample of amniotic fluid or placenta
from the mother to look for an extra copy of chromosome 18.
● Cardinal Glennon Fetal Care Institute
- Through amniocentesis or chorionic villus sampling (CVS), this test has a greater
than 99% accuracy rate for prenatal diagnostic confirmation.
 ● Non-invasive prenatal testing (NIPT)
- A blood test performed starting at 10 weeks of pregnancy, is used to screen for the
possibility of Edwards syndrome.
● Fluorescence in situ hybridization (FISH) testing
- It is a laboratory technique that is used to detect and locate a specific DNA sequence on a
chromosome. It visualizes a specific gene or a portion of genes where a full set of
chromosomes from the patient is affixed to a glass slide and exposed in a small piece of
purified DNA tagged with fluorescent dye.
● Karyotype
- It is a test which examines the dividing cells to determine if any chromosomes are
missing or damaged. The lab technician would take some blood from the patient and
collect a tube of blood that is commonly performed in adults, infants and children for
chromosome testing.
● Chromosomal Microarray
- This test can precisely count the amount of chromosomal imbalances, identify their
structural abnormalities, and identify chromosomal changes such as microdeletions and
microduplications.

PATHOPHYSIOLOGY
Trisomy 18 or Edward Syndrome is when the two meiotic cell divisions and proper chromosome
segregation do not take place that is known as the non-disjunction which causes abnormality in
chromosome numbers. An error in chromosomal segregation during meiosis or postzygotic mitosis results
in the extra chromosome that is often of maternal origin and the result of parent-of-origin analysis.
Meiosis II is responsible for about 50% of the nondisjunction problems in oogenesis, compared to meiosis
I in other human trisomies where malsegregation is more common. However, it is unclear what causes a
nondisjunction. There is an extra copy of chromosome attached in the normal chromosome in the egg cell,
making the haploid number 24 instead of 23 chromosomes. Making it three copies of chromosomes
instead of two that are attached in the chromosome 28 resulting in abnormality. The third chromosome,
which is carried by a single egg cell and has an extra copy that contains the same extra genetic code in
every cell of the body, is responsible for the extra genetic coding that prevents the child from growing and
developing normally. Resulting in physical impairments that are permanent, such as a small or abnormally
shaped head, low birth weight, small jaws or mouth, clenched fists with overlapped fingers, heart
problems, etc.

NURSING CARE AND CONSIDERATIONS

Caregiving for someone with Edward’s syndrome can be challenging, but definitely
rewarding. The ideal care management for them should be in collaboration with different
healthcare professionals based on a thorough assessment.

CARDIAC NURSING CARE AND CONSIDERATIONS

One of the complications of Edwards syndrome is congenital heart disease (CHD).

● Provide enough rest to decrease myocardial and oxygen demand

● Administer oxygen as prescribed by the physician
● Monitor VS: HR, RR and BP
● Administer anti-arrhythmic drugs such as amiodarone, dronedarone and nicardipine as
prescribed by the physician.

FEEDING NURSING CARE AND CONSIDERATIONS

Children with Edwards syndrome (trisomy 18) may have difficulty eating normally due
to their delayed physical development.

● Consult with a Nutritionist to determine the client’s suitable daily calorie intake and
food-type demands.
● Allow the client to select his preferred food to eat
● Health education:
○ Teach the different breastfeeding positions.
○ Proper chin/cheek support techniques for orally compromised infants.
ORTHOPEDIC NURSING CARE AND CONSIDERATIONS

They may require orthopedic care because of their inclination for scoliosis caused by
hemivertebra.

● Create a safe environment for them to avoid injuries.

● Avoid glossy surfaces
● Encourage adherence to physical therapy. The brace must be worn by the client while
their spinal development is still incomplete. Moreover, there are a lot of exercises to
improve curvature of the back.
● Health education:
○ The family must be aware of the risks associated with spinal instability and the
possibility of additional deformity if treatment is ineffective in order to encourage
cooperation.

PSYCHIATRIC NURSING CARE AND CONSIDERATIONS

Psychiatric management is needed not only for the client itself, but also to the caregiver.

● Evaluate and analyze understanding of Edward’s syndrome. Educate the family about the
condition and the proper care of a child with this condition.
● Provide emotional support and motivation. The family needs strong support and guidance
during these difficult times.
● Encourage a positive and healthy body image. Allow the client to choose his/her
preferred clothes to help boost his/her confidence while expressing his/her feelings.

LIFETIME CARE

GASTROINTESTINAL
● Growth parameters (weight, length and head circumference) should be checked during each
evaluation, more frequently in the first weeks and months of life, and plotted on the specific
growth charts
CARDIOVASCULAR
● Most patients with trisomy 18 can survive palliative and corrective heart surgeries, suggesting
that heart surgery can be considered even in patients with trisomy 18 however cardiac surgery in
the neonatal period is considered not likely to improve the survival of trisomy 18 children.
However, in other studies heart failure and early development of pulmonary hypertension induced
by heart defects were found to play a significant role in early death
● At the time of diagnosis or in the newborn period cardiac evaluation including echocardiogram
should be performed.

RESPIRATORY
● Home monitoring and oxygen therapy
● Administration of palivizumab for the prevention of RSV lower respiratory tract disease should
be considered in infants with trisomy 18 even those without congenital heart defects.

OPHTHALMOLOGIC
● Ophthalmologic evaluation is recommended to detect common structural abnormalities and, in
older children, visual acuity defects

GENITOURINARY
● Abdominal ultrasound screening
● Treatment for urinary infections

NEUROLOGICAL
● Neurological evaluation is needed because trisomy 18 child needs physical therapy for tone
muscle abnormalities. Management of epilepsy is similar to that in other children, seizures are
generally well controlled by standard pharmacological therapy.
REFERENCES:

● Trisomy 18: MedlinePlus Genetics. (n.d.). Medlineplus.gov.

https://medlineplus.gov/genetics/condition/trisomy-18/#frequency
● ‌mlblevins. (2007, February 28). Trisomy 18 (Edwards Syndrome). Health Hearty.
https://healthhearty.com/trisomy-18-edwards-syndrome
● Balasundaram, P., & Avulakunta, I. (2022). Edwards Syndrome. Statpearls Publishing. Retrieved from
https://www.ncbi.nlm.nih.gov/books/NBK570597/
● Marianne Belleza, R. (2018). Scoliosis Nursing Care Management and Study Guide. Retrieved 16
October 2022, from https://nurseslabs.com/scoliosis/#nursing_interventions
● National Health Service, Edward's syndrome (trisomy 18), Sept 2020, Retrieved from:
https://www.nhs.uk/conditions/edwards-syndrome/
● Edwards syndrome (trisomy 18). Healthdirect Australia. 2020 . Retrieved from:
https://www.healthdirect.gov.au/edwards-syndrome-trisomy-18
● Edwards syndrome (trisomy 18): Genetic condition, symptoms & outlook. Cleveland Clinic. 2021 Dec
12 . Retrieved from: https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome
● Trisomy 18 (Edwards syndrome). AboutKidsHealth Canada. 2016 July 19. Retrieved from:
https://www.aboutkidshealth.ca/article?contentid=875&language=english
● Trisomy 18: Diagnosis, Causes, Prognosis, and More. (2022, April 7). Healthline.
https://www.healthline.com/health/childrens-health/trisomy-18#diagnosis
● Diagnosis and Testing: How do babies get tested for Trisomy 18? | ThinkGenetic. (n.d.).
Www.thinkgenetic.com. Retrieved October 16, 2022, from
https://www.thinkgenetic.com/diseases/trisomy-18/diagnosis-testing?expand=1
● Karyotype Test: Test & What Is It. (n.d.). Cleveland Clinic.
https://my.clevelandclinic.org/health/diagnostics/21556-karyotype-test
● Green, E. D. (n.d.). Fluorescence In Situ Hybridization (FISH). Genome.gov.
https://www.genome.gov/genetics-glossary/Fluorescence-In-Situ-Hybridization
● FISH (Fluorescence In Situ Hybridization) Test. (n.d.). Www.breastcancer.org.
https://www.breastcancer.org/screening-testing/fish-test