Fetal Focus

The Fetal Focus course is designed for healthcare providers, genetic counsellors, obstetricians, midwives, and partner clinic staff to understand, order, interpret, and communicate Natera’s new noninvasive prenatal test (NIPT) for inherited single-gene conditions when the biological father is unavailable — filling an important clinical gap. This learning path starts with the background science: recessive single gene inheritance, carrier status, homozygous vs heterozygous variants, gene expression, and population variant frequencies. You'll learn why partner testing is recommended by guidelines in cases of positive carrier screening (via Horizon) but how in many real-world settings, partner testing may not be possible due to logistics, availability, or unwillingness. Fetal Focus uses Natera’s proprietary LinkedSNP™ technology to directly analyze certain fetal genes via maternal blood, to screen for inherited conditions in that context. The test is validated for five critical genes: CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), HBA1 and HBA2 (alpha-thalassemia), and HBB (beta-hemoglobinopathies, including sickle cell disease). Natera+2MarketScreener+2

You will be guided through the performance and validation data: for example, the EXPAND clinical trial, which enrolled about 1,300 participants from diverse, multi-ethnic populations. In its first milestone readout (n = 101), Fetal Focus demonstrated ~91% sensitivity, and successfully identified all fetuses in homozygous variant cases among those participants. Natera+2MarketScreener+2

The course will cover when Fetal Focus is appropriate: specifically, following a positive Horizon carrier screen for one of the five genes, in situations where the partner cannot be tested; what sample type is needed, at what gestational age; how to collect, ship, and process the sample; what limitations and potential confounders are (e.g. low fetal fraction, mosaicism, assay-specific constraints). It will also show how to interpret the results: what “positive” or “detected” vs “negative” means in context; how confident one can be with homozygous detection; what to do if results are ambiguous or uninformative; how to weigh risks and communicate uncertainty. Also how to distinguish findings that require immediate feedback vs those extraneous or lower risk.

Product background modules will explain the genes covered: what diseases are associated with CFTR, SMN1, HBA1, HBA2, HBB; what clinical impact early detection can have; and how this test complements other parts of Natera’s portfolio (carrier screening via Horizon, other NIPTs, etc.). You’ll also get basic genetics foundations to understand variant types, allele counts, zygosity, penetrance, and the impact of population diversity on detection accuracy.

There will be interactive content: case studies (e.g. a carrier with unavailable partner, different ethnic backgrounds, homozygous vs heterozygous fetal status), microlearning modules, video lectures, downloadable reference materials, and FAQs. Also a module on how to counsel patients: how to explain what Fetal Focus does and does not do, managing expectations, discussing follow-up options (diagnostic testing if needed), emotional support, ensuring informed consent is clear.

For ordering and workflow, the course will lay out the steps clearly: recognizing when Horizon carrier screening alerts the need; ordering Fetal Focus; kit logistics; turnaround time; reporting format; regulatory, payer, and ethical issues; and how to document results and follow up.

Also how to integrate into your clinical site/training: leveraging sales or provider outreach teams; using email campaigns or newsletter outreach; embedding information about Fetal Focus in your website or provider portal; linking to training modules from ordering systems; using swim lanes like “Get Started → Intro to Genetics → Carrier Screening (Horizon) → Fetal Focus module → Ordering & Interpretation → Patient Discussion → Follow-up + Feedback.”

By the end of this course, participants will be able to identify when Fetal Focus is the right test to order, interpret its results with nuance and awareness of limitations, distinguish urgent vs non-urgent results, communicate findings to patients clearly, understand how this test fits into the broader reproductive care pathway, and implement workflows so that this test adds value (reducing unnecessary paternal testing, improving risk assessment, supporting patient decisions with confidence).