ACTIVITY #1

NUPC110-CMCRP

NAME: MELODY A. BOADO & MARY JOY G. SOTELO

YEAR AND SECTION: BSN 2D

1. Explain the basic principles of genetics. (10pts)

An organism's features are mostly determined by its genome, which is inherited from parent cells
and passed on to progeny cells. This genetic information is encoded and stored in chemical form
by lengthy nucleic acid sequences known as "genes". Members of a given species differ from
one another due to infrequent variations in this DNA.
2. Explain the genetic and non-genetic factors influencing development. (10pts)
As we all know, the genes we receive from our parents affect everything from IQ, behavioral
patterns, and personality traits to height, eye color, hair color, and other physical characteristics.
Our genetic make-up as well as environmental factors determine who we are today.While non-
genetics involves numerous cytoplasmic, epigenetic, and other processes. For the various
heritable factors that may affect the gene expression of offspring, the term inherited gene
regulation (IGR) offers a unifying idea.
3. Describe the role of the nurse in genetics. (10pts)
Genetics nurses do risk assessment, which includes looking at the genetic component of disease
risk and discussing how risk influences individual and family health care management. They also
provide nursing care to patients and their families, carry out genetics research, and educate
people about genetics.
4. Identify diagnostic techniques conducted to assess the maternal and fetal health. (20pts)
To find out if a fetus has certain abnormalities, such as some hereditary or spontaneous genetic
illnesses, prenatal diagnostic testing entails evaluating the fetus before birth (prenatally).
 Screening of the pregnant woman
The fetus is not at risk from these blood tests. They can assist in more exactly identifying
the woman's personal risk of giving birth to a child with an anomaly, which will enable
the couple to more accurately weigh the advantages of invasive prenatal genetic testing.

a) First- Trimester Screening

Screening throughout the first trimester yields results quickly. If test findings are
abnormal and the couple so chooses, an early chorionic villus sample can be taken
to check for the presence of Down syndrome. Amniocentesis, which is often
performed later in pregnancy, can also identify Down syndrome.
 The ability to perform an abortion sooner, when it is safer, if wanted, is one
benefit of first-trimester screening.

b) Second-Trimester Screening
In order to assess the likelihood that the fetus will have specific defects, markers
in the pregnant woman's blood are examined during the second trimester and
occasionally ultrasonography is performed.

 Ultrasonography
Ultrasonography usually carried out during pregnancy. For the mother or fetus, there
are no known dangers. Ultrasonography can do the following:

 Confirm the length of the pregnancy

 Locate the placenta

 Indicate whether the fetus is alive

 Determine how many fetuses are present

 After the third month, detect certain obvious structural birth defects, including those of the
brain, spinal cord, heart, kidneys, stomach, abdominal wall, and bones

 In the 2nd trimester, detect structural defects that tend to indicate an increased risk of a
chromosomal abnormality in the fetus (called targeted ultrasonography)

 Amniocentesis

In this process, a sample of the amniotic fluid—the fluid that surrounds the fetus—is
taken and examined. At 15 weeks of pregnancy or later, amniocentesis is typically
performed. The fluid is made up of cells that the fetus has lost. In order to examine the
chromosomes in these cells, they are cultured in a lab. Alpha-fetoprotein, a protein
made by the developing fetus, can be measured by doctors via amniocentesis.
Compared to a test of this amount in the mother's blood, this measurement more
accurately identifies whether the fetus has a brain or spinal cord abnormality.

 Chorionic Villus Sampling

The chorionic villi, which are microscopic projections that are a component of the
placenta, are sampled by a doctor during chorionic villus sampling. In most cases,
between 10 and 12 weeks of pregnancy, this method is utilized to diagnose some fetal
abnormalities.

 Percutaneous Umbilical Blood Sampling

 In order to take an umbilical blood sample percutaneously (through the skin), the doctor
first numbs a section of skin on the belly. The doctor then pokes a needle through the
uterus and abdominal wall into the umbilical cord under the guidance of ultrasound.
The needle is removed after drawing blood from the fetus for analysis. It is invasive to
take blood samples from the umbilicus percutaneously. About 1 in 100 surgeries could
result in a miscarriage.

 Preimplantation Genetic Testing

Prior to the embryo being implanted into the woman's uterus, doctors are occasionally
able to identify genetic problems in the embryo created by in vitro (test tube)
fertilization. Preimplantation genetic testing is costly and technically complex. The
majority of couples who have a high risk of passing down specific genetic diseases
(such cystic fibrosis) or chromosomal abnormalities to their offspring use these tests.

5. Discuss the nursing responsibilities to the woman, the child, and her family during the
prenatal, intranatal, and postnatal periods. (50pts)
Prenatal, intranatal, and postnatal care are the three stages of an expectant mother's care. This is
necessary to ensure a smooth pregnancy, labor, and delivery, as well as to maintain the mother's
health after giving birth.
1. Prenatal Care
Prenatal care begins the minute a woman becomes aware that she is pregnant and
requires her to start caring for her body more carefully. Problems or concerns that
arise during healthy pregnancies are included in the area of Expected Changes of
Pregnancy. The primary goals of the nursing interventions in this area are
observation, support, and instruction. The prenatal nurse keeps track of the
mother's and fetus's health, offers emotional support, and educates the expectant
mother and her family on the physical and mental changes that occur throughout
pregnancy, the growth of the fetus, labor and delivery, and postpartum care.

2. Intranatal Care
Care provided to the mother and child during the time of birth is referred to as
intranatal care. In labor and delivery rooms, labor and delivery nurses collaborate
with obstetricians and other medical professionals to provide prenatal and
postnatal care. In order to make sure that every delivery is safe for both the
mother and the baby, nurses frequently have the responsibility of collaborating
with doctors to create a customized birthing plan for each mother. Nurses
frequently talk to mothers about the birthing process before to delivery and give
them instructions on what to anticipate. Nurses are frequently tasked with
informing parents about babies and the care they need after the baby is born.

3. Postnatal Care
 For 6 to 8 weeks following the baby's birth, postnatal care is crucial. The mother
needs rest, food, and vaginal care during this time because she is going through a
lot of physical and mental changes. Postpartum nurses' typical responsibilities
include keeping an eye on the mother's and baby's vital signs to ensure that both
are healing and in good health. Being aware of any indicators or symptoms that
could indicate delivery difficulties, such as postpartum depression, postpartum
hemorrhage, and failure to thrive teaching expectant moms how to look after their
children, including how to bathe, change, and feed them as well as how to take
care of the umbilical chord assisting the mother, if she chooses, to start a
breastfeeding connection defending the mother's decisions and reiterating her
competence in raising her child. Working with other nurses and the attending
physicians to ensure that the plan of care is appropriate to the patients and being
followed correctly. Referring the mother to additional resources such as
breastfeeding support groups. Also as emergencies can arise fast for both the
mother and the newborn after delivery, postpartum nurses must be able to
maintain their composure in challenging and rapidly changing situations.
Additionally, postpartum nurses must have empathy for the mother, who may be
struggling with emotions of inadequacy or worry.

References

Bailey, R. (2017) Gene theory - basic principle in biology, ThoughtCo. ThoughtCo. Available at:
https://www.thoughtco.com/gene-theory-373466

Kalchhauser, I.A. (2022) Understanding 'non-genetic' inheritance: Insights from molecular ...,
Trends in Economy & Evolution. Available at: https://www.cell.com/trends/ecology-
evolution/fulltext/S0169-5347(20)30226-3

Milliken, A. and Grace, P.J. (1970) Developing ethical awareness and ethical sensitivity,
SpringerLink. Springer Netherlands. Available at:
https://link.springer.com/chapter/10.1007/978-94-024-2155-2_2

Dungan, J.S. (2023) Prenatal diagnostic testing - women's health issues, MSD Manual
Consumer Version. MSD Manuals. Available at:
https://www.msdmanuals.com/home/women-s-health-issues/detection-of-genetic-
disorders-before-and-during-pregnancy/prenatal-diagnostic-testing

Uma, V. (2016) Introduction to prenatal, intranatal and postnatal care - by dr. Uma, Lybrate.
Lybrate. Available at: https://www.lybrate.com/amp/topic/introduction-to-prenatal-
intranatal-and-postnatal-care/09d48f98086e82c78f099f4226697363