Taylor Rackey

STAT 2050
Assignment #3 Data Analysis
June 10th, 2021

NIPT Data Analysis

Non-invasive pregnancy testing (NIPT), according to Chandrasekharan, Minear, Hung, &

Allyse (2014), is a form of testing during pregnancy that evaluates cell-free fetal DNA (cffDNA)

that is circulating in the birthing parent’s bloodstream. NIPT is used to identify increased risk for

fetal trisomies, including Trisomy 13, 18, in addition to fetal Rhesus D status, sex chromosome

disorders, and fetal sex. Introduced in 2011 in the United States and Western Europe, NIPT is

currently being offered by 4 commercial providers in the country, including Sequenom, Natera,

Verinata, and Ariosa. (Chandrasekharan, Minear, Hung, & Allyse, 2014).

As demonstrated by Birko, Ravitsky, Dupras, Le Clerc-Blain, Lemoine, Affdal, Haidar, &

Laberge (2019), NIPT has proved to have demonstrated superior efficacy over recent years

compared to that of maternal serum screening, and its use to detect trisomies has worked to

reduce the amount of invasive procedures occurring. Completed as early as nine weeks gestation,

NIPT holds no risk of miscarriage, and holds clinical superiority over other antenatal screening

methods (Birko, Ravitsky, Dupras, Le Clerc-Blain, Lemoine, Affdal, Haidar, & Laberge, 2014).

In the past, organizations had recommended that those pregnant individuals over the age of 35, or

those with high-risk pregnancies should be screened using NIPT. However, new guidelines from

the American College of Obstetricians and Gynecologists (ACOG) (2015) recommend that each

pregnant person regardless of age, income, ethnicity, or risk status be screened via NIPT

(American College of Obstetricians and Gynecologists, 2015)

Clinicians must be aware of intense emotional responses that come with NIPT testing and

possible results, and clients should undergo counseling prior to screening with the possibility to

have their questions and concerns answered. Individuals who are deciding whether to screen via
 Taylor Rackey
STAT 2050
Assignment #3 Data Analysis
June 10th, 2021

NIPT should be guided through what the information may bring them in regards to choices

moving forward. For some, this may look like additional information that can better help them to

prepare for a child who has a trisomy diagnosis, and for others, this may look like choosing to

terminate if further diagnosing testing confirms a diagnosis of any of the trisomies. It is

important to understand that NIPT may produce inconclusive results, in addition to

false-negative and false-positive results; this is why NIPT cannot be considered to be a definitive

test with a diagnosis and further testing is required after screening.

In practice, I believe that it is important for all pregnant individuals to be offered NIPT,

but to also be counseled regarding the outcomes of testing, their choices if the outcomes were to

be positive, and the understanding that this screening is not diagnostic and requires more

invasive testing for confirmation. I personally have had lots of experience with Natera, offering

not only Panorama NIPT, but Horizon carrier screening for both the birthing parent and

partner/FOB, as well as Empower cancer gene screening. I have found that Natera not only

wants to create testing that is accessible to all individuals, with out of pocket costs being between

$249-349; we have also continued to bill Oregon Health Plan (state-funded Medicaid) for the

majority of individuals without issue. Furthermore, there are courtesy codes given by the Natera

representative for partner/FOB screening when Horizon carrier screening of the birthing parent is

positive. Finally, the geneticist available to talk with clinicians and families alike is phenomenal,

allowing birthing parents and their partners to talk with a first-line individual regarding their

genetic concerns and test results.

Referenced by the Centers for Disease Control (2020), the prevalence of trisomy

conditions, specifically Trisomy 21 (Down syndrome), increases with maternal age. As the
 Taylor Rackey
STAT 2050
Assignment #3 Data Analysis
June 10th, 2021

birthing parent ages, their risk increases for having a baby with Down syndrome (Centers for

Disease Control, 2020). Research shows that the risk of having a baby with Down syndrome

increases relatively modestly each year, with the maternal risk at age 20 being 1:1450, and the

risk at age 35 being 1:350, and 1:70 at the age of 40 (Queen Mary University of London, 2020).

In regards to age, childbearing individuals are born with all of the eggs that they will ever carry

in a lifetime, and it is not the age of the person that determines the health of their pregnancy and

chance of Down syndrome, but rather the age of their eggs.

With regards to age bias when discussing recommendations for pregnant individuals, I

plan to have conversations regarding NIPT with every client entering care, in addition to further

discussion with clients who may over the age of 35. Within my practice guidelines, I find that

there are more discussions that come with bring over the age of 35, such as increase in fetal

aneuploidy as discussed, and gestational diabetes. Regardless of the individual, in order for

someone to make an informed decision about NIPT, they should first receive high quality

non-biased information and be allowed to ask questions and receive answers from either their

care provider, or someone whose scope allows them to further answer any questions.

Routizination of NIPT should be avoided, as many times the screening is described as “just a

blood draw,” and some individuals may been pressured to test without understanding the

implications.
 Taylor Rackey
STAT 2050
Assignment #3 Data Analysis
June 10th, 2021

References:

American College of Obstetricians and Gynecologists (2015). Committee Opinion No.

640: Cell-Free Dna Screening For Fetal Aneuploidy. Obstetrics & Gynecology, 126, e31-e37.

https://doi.org/10.1097/AOG.0000000000001051

Birko, S., Ravitsky, V., Dupras, C. et al. The value of non-invasive prenatal testing:

preferences of Canadian pregnant women, their partners, and health professionals regarding

NIPT use and access. BMC Pregnancy Childbirth 19, 22 (2019).

https://doi.org/10.1186/s12884-018-2153-y

Chandrasekharan, S., Minear, M. A., Hung, A., & Allyse, M. (2014). Noninvasive

prenatal testing goes global. Science translational medicine, 6(231), 231fs15.

https://doi.org/10.1126/scitranslmed.3008704

Centers for Disease Control. (2020, October 23). Data and Statistics on Down Syndrome.

Retrieved from https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html

Dekker, R. (2021, May 05). Evidence on: Pregnancy at Age 35 and Older. Retrieved from

https://evidencebasedbirth.com/advanced-maternal-age/

Queen Mary University of London. (2020). Calculating the risks of Down's syndrome.

Retrieved from

https://www.qmul.ac.uk/wolfson/services/antenatal-screening/screening-tests/calculating-the-risk

-of-downs-syndrome/