FERTILITY GENETICS

ARTICLES
NIPT is quickly changing the traditional framework
of prenatal screening and diagnosis. Its rapid integration
into routine prenatal care is prompting major ethical
concerns on the responsible implementation and process
of informed decision-making [54]. While all professional
societies recognize the significant benefits offered by NIPT,
maximum potential can only be achieved by educating
patient and healthcare professionals on its utility, benefits,
and limitations [33-36]. It is their opinion that genetic
counseling is paramount to ensuring informed decisionmaking
and reproductive autonomy. Special emphasis
has been placed on the importance of providing accurate
information prior to testing, for the purpose of informed
consent, and also to mentally prepare the patients on the
implications of what the test results could mean for them.
ACOG and SMFM updates guidance on NIPT
On March 1, 2016, The American College of
Obstetricians and Gynecologists (ACOG) and Society
for Maternal-Fetal Medicine released a joint Practice
Bulletin to provide updated information regarding the
available screening test options for fetal aneuploidy.
Cell-free DNA screening, or NIPT, have now been added
to the list of screening options recommended. The new
recommendations strongly encourage physicians to discuss
and offer aneuploidy screening or diagnostic testing to all
women early in pregnancy, regardless of maternal age or
risk factors. Women who have achieved IVF pregnancies,
with or without preimplantation genetic screening, can also
benefit from these options. Such discussions should take
place at the earliest opportunity (ideally at the first prenatal
visit), and discussion should include the benefits, risks, and
limitations of the available screening and/or diagnostic test
options. All management decisions should fit within the
scope of the patients’ clinical circumstances, values, and
goals. [36]
Future of NIPT
NIPT using cell-free DNA screening for aneuploidy
is bringing the most radical change seen in prenatal care
over the past decades. We have already seen a dramatic
decline in invasive testing in countries with the clinical
uptake of NIPT [55], which is met with overwhelming
approval from patients and healthcare professionals alike
[56, 57]. As molecular techniques continue to improve,
NIPT promises to deliver increased use at a lower cost.
The range of conditions it can detect is expected to expand
and is likely to include microdeletions, microduplications,
and single-gene disorders. As we move toward safer and
earlier prenatal diagnosis, the opportunity for therapeutic
interventions and treatments will have a significant impact
on the delivery of fetal medicine. It will be crucial to
educate clinicians on how to guide their patients through
the complicated decisions as testing options increase.
Autonomous decision-making is certainly attainable when
patients and front-line healthcare providers are fully
engaged in understanding the complexity of testing and
interpretation of results. Responsible implementation of
NIPT can have a far-reaching impact on the delivery of
optimized prenatal care, with the best possible outcome for
both mother and baby.
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Fertility Genetics Magazine • Volume 2 • www.FertMag.com – Page 31