SMFM Guidance
Source Publication: Society for Maternal-Fetal Medicine (SMFM) Consult Series #75Evaluation and Management of Non-Immune Hydrops Fetalis (2026)
Read the full SMFM guidance
Key Takeaways
- SMFM now recommends offering prenatal exome sequencing (ES) or genome sequencing (GS) for pregnancies with non-immune hydrops fetalis when chromosomal microarray (CMA) or karyotype does not identify a diagnosis.
- In specific cases where a single-gene disorder is strongly suspected or delays could influence pregnancy management, ES or GS may be considered concurrently with CMA.
- The guidance reflects an earlier role for prenatal genomic sequencing in appropriately selected high-risk pregnancies.
- Clear medical necessity criteria and appropriate patient selection remain important for evidence-based utilization.
What Changed in the SMFM Guidance for Prenatal Genomic Sequencing?
The Society for Maternal-Fetal Medicine has updated its clinical guidance to recognize prenatal exome sequencing (ES) and genome sequencing (GS) as important diagnostic tools for select pregnancies when standard genetic testing does not provide answers. While the guidance focuses on the evaluation of non-immune hydrops fetalis (NIHF), it also reflects the continued evolution of prenatal genomic sequencing and its growing role in supporting timely clinical decision-making during pregnancy.
For health plans, this update is more than a clinical milestone. It signals a need to reassess where prenatal ES and GS fit within coverage policy, utilization management, and care coordination for high-risk pregnancies.
SMFM now recommends offering prenatal ES or GS for pregnancies with non-immune hydrops fetalis when chromosomal microarray (CMA) or karyotype does not identify a diagnosis. The guidance also recognizes that, in specific cases where a single-gene disorder is strongly suspected or when delays could influence pregnancy management, ES or GS may be considered concurrently with CMA rather than after.
Collectively, these recommendations reflect a broader shift in prenatal care. Rather than serving solely as a later diagnostic option after other testing has not identified an underlying cause, prenatal ES and GS are increasingly being recognized as an earlier consideration for appropriately selected high-risk pregnancies.
Why the Updated SMFM Guidance Matters for Health Plans
As clinical guidance increasingly supports prenatal ES/GS in certain high-risk pregnancies, health plans have an opportunity to ensure coverage policies reflect current evidence and the evolving role of genomic medicine in prenatal care.
A prenatal genetic diagnosis can provide clinically actionable information before birth, helping clinicians and families make more informed decisions about pregnancy management, delivery planning, neonatal care, and genetic counseling. As evidence continues to evolve, prenatal ES/GS sequencing is becoming an increasingly important component of comprehensive fetal evaluation for selected high-risk pregnancies.
Importantly, the updated recommendations reinforce that prenatal ES and GS are intended for specific clinical scenarios, not routine prenatal screening. Clear medical necessity criteria and appropriate patient selection remain essential to ensuring evidence-based utilization while expanding access for pregnancies most likely to benefit.
How Prenatal Genomic Sequencing Can Inform Care Delivery
When the genetic cause of a condition is identified before birth, obstetric, maternal-fetal medicine, neonatal, and pediatric subspecialty teams can prepare with greater clarity. This may include selecting the most appropriate delivery setting, anticipating neonatal interventions, coordinating specialty consultations, and preparing families for expected care needs before delivery.
For health plans, earlier molecular diagnosis has the potential to improve care coordination and support more efficient healthcare resource utilization. Rather than continuing an extended diagnostic workup after birth, clinicians can focus on management strategies informed by a genetic diagnosis, helping to reduce unnecessary diagnostic testing, duplicative evaluations, avoidable referrals, and delays in accessing appropriate specialty care.
Earlier diagnosis may also facilitate more proactive case management, improve transitions across the prenatal and postnatal continuum, and support delivery of the right care, in the right setting, at the right time.
Translating Clinical Guidance Into Coverage Policy
The updated SMFM guidance helps define when prenatal ES/GS may be appropriate for specific high-risk pregnancies. For health plans, the next step is translating those clinical recommendations into clear, evidence-based coverage criteria.
Patient-centered Laboratory Utilization Guidance Services (PLUGS) is a laboratory stewardship collaborative that develops evidence-based policies to support appropriate laboratory utilization and coverage decisions. Its Prenatal Exome and Genome Sequencing Policy provides an evidence-based sample policy that health plans can adopt or use as a reference to develop their own policies.
Related Prenatal Genomic Sequencing Resources
Explore real-world examples of how prenatal exome sequencing can help provide answers during pregnancy:
- Jennifer’s story: Second trimester prenatal exome sequencing (PDF)
- Maria’s story: First trimester prenatal exome sequencing (PDF)