This Case Scenario is a True to Life Story of a couple who found out that their

baby has a rare genetic disease.

Is she in pain?” I asked quietly as the pearlescent baby-

shaped image on the screen folded its legs and then
extended them.

The radiologist doing my

ultrasound had just finished
pointing out a cluster of
alarming abnormalities in our
developing daughter, using a
slew of medical terms my
husband and I, both medical
students, were grimly familiar
with. Pleural effusion: fluid
surrounding one of her lungs,
preventing it from expanding
and developing
properly. Ascites: excess fluid
inside the abdomen,
surrounding her organs. Cystic
hygroma: a large, fluid-filled
mass on her neck, strongly
associated with chromosomal
abnormalities.
Something was very wrong
with our baby.
 A few hours later, I lay on a hospital exam table. Arms folded
over my head, I tried to stay still as a specialist in maternal/fetal
medicine used a large needle to pierce my abdominal wall and
then my uterus in order to take a sample of the placenta for
genetic testing.

After an agonizing two

weeks, the results
came back: our
daughter had trisomy
18. My husband and I
immediately
understood the gravity
of this diagnosis — it
is one of those rare
conditions we
expected to encounter
on a medical board
exam, not in real life.
Trisomy 18 is rare, occurring in
about 1 in 2,500 pregnancies. The
cells of these babies have three
copies of chromosome 18 instead
of the usual two. There is no cure.
Most babies with trisomy 18 die
before they are born. The majority
of those who make it to term die
within five to 15 days, usually due
to severe heart and lung defects.
The few who live past one year
have serious health problems,
such as a toddler lacking
abdominal wall muscles, revealing
the slithering movement of
intestines beneath his skin, or a 1-
year-old who cannot not defecate
on her own, requiring anal
sphincter dilation multiple times
each day.
 Given this scenario, Make 1
nursing diagnosis and make a
Nursing Care Plan for the
formulated Nursing Diagnosis.
The instructions and rubric for
the activity is given to you in My
Class assignment Tab.