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Research Proposal
Lauren Maynor
Intern Mentor
2018-19

Title ​The Down Low on Down Syndrome: Prenatal Screening Algorithms

Overview of Research
● For this project, the focus will be on Down Syndrome, more specifically how accurate
and reliable various prenatal screening test are. The problem is each test has a specific,
different sensitivity and specificity; thus, altering the predictive values for each test. This
changes how accurate or correct each test is. This means the research will be oriented
towards determining which test is the best predictive values overall and determining
which test is best based on a mother’s age.

Background and History of the Issue

● The rate of babies born with Down syndrome has decreased over the years due to genetic
testing. For example, in the United States there is a 68% abortion rate and in Iceland
there is a 98% abortion rate for Down syndrome babies. These high percentages are due
to more accurate prenatal test for this syndrome.
● A mother has the option to conduct genetic or Down syndrome testing, but it is not
required. Furthermore, the mother also has the ability to select which test she wants to
undergo. The mother must first choose between a screening or a diagnostic test.
Screening test provides the likelihood of having or not having a child with Down
syndrome, while diagnostic test provide definitive answers. However most mother’s do
not opp to conduct a diagnostic exam because they carry a small rate of miscarriage.
After this choice a mother must determine which test to choose. There are two main
diagnostic test and four main screening test to choose from. This is why providing data
and information about each test is critical to helping the mother select the best test for her
and her family.

Problem Statement and Rationale

● The current problem is that genetic testing is not 100% correct; thus, choosing an exam
based it’s accuracy and the mother’s age is very important. This research is relevant
because it can help mother’s select a test that is best for them. Also the research will
explain various individual and societal cost that an expecting mother must take into
consideration when selecting a test. Another problem is that mothers are not given
enough background information at the hospital about Down syndrome to fully understand
the disorder. This is why it is important to provide mothers w a packet of information
about the condition that they can easily read and understand once they leave the hospital.
The mothers along with their family’s will benefit because at the hospital stress levels are
relatively high so retaining the information the doctors says is low; thus, a take home
packet could help refresh loved ones about the information the doctor said.
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Research Methodology
● Research Question and Hypothesis
○ Which test is most accurate for mothers with different maternal ages when trying
to determine if their baby has Down syndrome?
○ By comparing the genetic test and interviewing professionals mothers can be
given a collection of professional information before they leave the hospital. By
taking this packet they will better understand Down syndrome and which test
would be best for them. In addition the rate of abortions may decrease due to
mothers being better informed.

● Basis of Hypothesis
○ This hypothesis sprouted while holistically researching Down syndrome,
however, with lack of direction the topic was narrowed down to genetic testing.
The interest in prenatal genetics and testing was derived from literary sources.
Then my mentor at my internship explained how many testing options there were
and how inaccurate the test can be.

● Research Design
○ Descriptive research will be conducted through interviews and primary data
analysis to determine which test would be best for an expecting mother.
Interviews will provide qualitative data that surrounds an individual’s personal
experiences with Down syndrome. Possible interviewees are a person with Down
syndrome, a mother, or a genetic counselor. The data analysis is quantitative data
that will display which test is most accurate. The data analysis will be
constructed into a flowchart that utilizes sensitivity and specificity to determine
which examination is the best for the expecting mother.

● Operational Definitions
○ Positive Predictive Value- individuals with a positive screening test truly have the
disease
○ Negative Predictive Value- individuals with a negative screening test truly do not
have the disease
○ Sensitivity-the ability for a test to correctly predict those with a disease
○ Specificity- the ability for a test to correctly predict those without a disease
○ Down syndrome- having three 21st chromosomes instead of two (trisomy 21)

Product Overview
● The product will be complied in a flowchart and/or a pamphlet that can be distributed at
the University of Maryland Medical Center. The information will pertain to Down
syndrome as a whole and then delve into specific about each examination. Also there
will be references to which test is best based on one’s maternal age. Quotes and
important information from the interviews can be found, as well as, data collected about
each test.
● The intended audience is pregnant women or mothers. The information could aid them in
deciding which test, if any, they wish to undergo. They will be able to access the
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information through reading the pamphlet that is discriminated at the hospital or

analyzing the flowchart. The pamphlet will have Down syndrome broken down; thus, it
is a way the mother can gather background information on the condition. The flowchart
will be based off my data as a way to determine what screening and diagnostic test is best
and most accurate.

Logistical Considerations
● One challenge may be finding individuals to interview because this topic can be sensitive
for a mother or affected individual to discuss. Another possible issue is that plans were
in place for a part time internship with a prenatal geneticist at UMMC; however, due to
the holidays and conflicting busy schedules it does not seem possible anymore.