National Birth Defects Prevention Month · January 1–31, 2026
Connect prevention, respectful screening, birth readiness, and lifelong support
A January campaign becomes useful when a health system can turn prevention opportunities, informed choices, test results, referrals, family knowledge, and long-term needs into one accountable route.
Observance and scope note. This existing 2026 calendar post uses the title “National Birth Defects Prevention Month.” Current 2026 materials from the National Birth Defects Prevention Network and the Centers for Disease Control and Prevention use “Birth Defects Awareness Month,” and the network’s 2026 theme is “Every Journey Matters.” The title and WordPress record are preserved here; the current campaign language is stated transparently. This executive brief does not imply that every congenital condition can be prevented. It does not diagnose a condition, interpret an individual test, recommend a supplement or treatment, define universal referral criteria, or replace qualified medical, genetic-counseling, public-health, legal, ethics, disability, or patient-safety judgment.
The executive accountability case
Treat January as a test of the whole route
Birth defects are a broad and heterogeneous group of structural or functional conditions present at birth, although some may be identified later. Causes, clinical implications, family priorities, and care requirements differ. A prevention-only narrative can therefore be incomplete and harmful. It may suggest that every condition has a known modifiable cause, that a pregnant person is responsible for an outcome, or that the work ends when a prenatal or newborn test is completed. A reliable health system holds a more demanding position: pursue evidence-supported prevention opportunities, communicate uncertainty honestly, protect autonomy, prepare for birth and early treatment when appropriate, close diagnostic and referral loops, and support people across the life course.
The operational route begins before pregnancy for some people and at a prenatal visit, birth hospitalization, newborn-screening result, pediatric visit, emergency encounter, or later diagnosis for others. No single department owns all of it. Primary care, obstetrics, maternal-fetal medicine, genetics, laboratory and imaging services, neonatology, pediatrics, surgery, rehabilitation, behavioral health, social care, payers, schools, community organizations, and adult services may each hold one part. The executive failure mode is not simply the absence of a program. It is a series of locally reasonable actions with no shared definition of who confirms receipt, who explains the result, who arranges the next step, and who notices when the family falls out of view.
Recent evidence supports that systems framing. A 2026 population-based analysis of selected congenital anomalies in United States natality data reported associations with pre-pregnancy diabetes, maternal age, tobacco use, and sociodemographic categories, while also emphasizing the limitations of observational data and selected-condition definitions.1 A separate 2026 review of congenital-anomaly registries in Australia found variation in scope, ascertainment, linkage, reporting, and data quality.4 These studies answer different questions, yet together they show why awareness content must distinguish a risk association from a cause, and why a dashboard is only as trustworthy as the definitions and follow-through beneath it.
The executive question is not “Did we promote awareness?” It is “Can a person or family move from prevention information or a concern to an understood, accepted, equitable next step without carrying the coordination burden alone?”
A useful January review therefore follows the route end to end. It asks whether evidence-based preconception information reaches people before the relevant decision point; whether counseling is informed and non-directive; whether screening is clearly separated from diagnosis; whether positive, uncertain, or incomplete findings have a named owner; whether birth plans and specialist capacity are synchronized; whether newborn screening has a closed follow-up loop; whether the medical home can coordinate services; whether adolescents enter adult care with an accepted plan; and whether surveillance data return to operations as learning rather than merely as annual counts.
Preconception and prevention
Protect the opportunity without turning it into blame
Prevention work is important precisely because some risks can be reduced, not because every outcome can be controlled. A 2021 clinical evidence review described the role of maternal folic acid and multivitamin supplementation in preventing folate-sensitive birth defects and emphasized the timing of supplementation before and during early pregnancy.14 A large 2024 prospective population-based cohort in mainland China included 567,547 couples and reported lower odds of birth defects among participants reporting folic acid supplementation, including lower odds of neural tube defects.12 The study was observational and used self-reported birth-defect outcomes at 42 days postpartum, so its estimates should not be treated as proof that an individual outcome was caused or prevented by one behavior.
For leaders, timing is the operating constraint. A message delivered after conception may be clinically useful for other reasons, but it cannot recreate the entire preconception window. Health systems should examine where people of reproductive potential already receive care and information: primary care, pharmacy, chronic-disease services, behavioral health, occupational health, school-based or community care, fertility services, and digital channels. The goal is not a single campaign blast. It is a standing, inclusive process that can connect people with qualified guidance based on medications, chronic conditions, nutrition, vaccination, substance exposure, family history, occupational or environmental concerns, and reproductive intentions.
Language must be designed with the same care as the intervention. “Risk reduction” is more accurate than “guaranteed prevention.” “People who could become pregnant” may reach a broader population than a message written only for people who already identify as planning pregnancy. Accessible formats, interpretation, health-literacy review, disability access, culturally responsive communication, and routes for people without continuous insurance or a usual source of care are not optional finishing steps. They determine who receives the opportunity early enough to act.
Leaders should also prevent performance measures from becoming coercive. A numerator such as documented preconception counseling may reward a completed field while saying nothing about comprehension, voluntariness, clinical relevance, or access to the recommended service. Pair process measures with experience questions and barrier review. Audit for unequal reach. Protect privacy. A prevention program is not reliable if it identifies a need but offers no affordable, timely, acceptable route to address it.
Figure 1 · Evidence chart
Selected associations reported in a 2026 United States natality-data study
Scale: relative risk from 0 to 4.00. Values are plotted against the same linear scale; parentheses show 95% confidence intervals.
Open the chart data table
| Study variable | Relative risk | 95% confidence interval |
|---|---|---|
| Maternal age over 45 | 2.95 | 2.36–3.69 |
| Pre-pregnancy diabetes | 2.41 | 2.16–2.69 |
| Tobacco use | 1.78 | 1.64–1.94 |
| Black compared with the study’s Caucasian reference category | 0.81 | 0.76–0.85 |
| Asian compared with the study’s Caucasian reference category | 0.57 | 0.52–0.63 |
Screening, diagnosis, and consent
Make every result understandable and every next step explicit
Screening creates information, not certainty. Prenatal screening can estimate the chance of a condition; diagnostic testing may confirm or refine a finding; imaging may identify an anomaly but not its full clinical meaning; newborn screening can signal the need for urgent diagnostic evaluation. Families need to know which kind of result they are receiving, what it can and cannot establish, what choices are available, how much time a decision permits, and who will contact them next.
A 2026 review of prenatal counseling following a fetal congenital-anomaly diagnosis identified communication, multidisciplinary counseling, shared decision-making, continuity, accessibility, psychosocial support, and the format and timing of information as recurring features of practice.3 Because the review did not conduct a formal quality appraisal, it should guide questions and design rather than be treated as a ranked list of proven interventions. A 2026 clinician-perspective study on advanced prenatal testing and genetic counseling likewise foregrounded informed consent, autonomy, disability rights, access disparities, and genomic uncertainty.6
Operationally, non-directive counseling requires more than a carefully worded brochure. Appointment length, access to genetics expertise, interpretation, telehealth, disability-affirming information, psychosocial support, privacy, and the ability to include a chosen support person all shape whether a decision is genuinely informed. Leaders should ask whether the system presents a range of experiences and options without directing the family toward a preferred outcome. Content should include clinical uncertainty, possible false-positive and false-negative results, limits of available evidence, and the fact that people may reasonably make different decisions consistent with their values.
Diagnostic closure needs a control owner. For every positive, uncertain, or incomplete result, define who receives it, who verifies that the right person reviewed it, who contacts the patient or family, who arranges confirmatory work, what happens after an unanswered call, how language and accessibility needs are met, and how the loop is closed. A portal release is not a closed loop. A referral order is not an accepted appointment. A note saying “family informed” does not establish understanding.
Figure 2 · Proposed process flow
A life-course route with an accountable handoff at every transition
- Preconception opportunityOffer timely, inclusive risk-reduction information and access to qualified care.
- Prenatal screeningExplain purpose, options, uncertainty, consent, and how results will return.
- Diagnostic closureConfirm receipt, interpretation, counseling, escalation, and family understanding.
- Birth readinessAlign delivery site, specialty capacity, emergency contingencies, and family priorities.
- Newborn follow-upConnect screening to diagnosis, treatment, hearing services, and early supports.
- Medical homeCoordinate primary, specialty, rehabilitation, education, social, and family needs.
- Adult transitionPrepare the young person, verify adult-service acceptance, and transfer knowledge.
- Learning loopReturn reliable, stratified data and family experience to pathway owners.
Birth readiness and newborn follow-up
Do not confuse prenatal detection with a prepared system
Prenatal detection can create time for planning, but detection by itself does not guarantee a better outcome. A 2024 European register-based cohort compared children with specific isolated congenital anomalies diagnosed prenatally and postnatally. More severe cases may have been preferentially detected before birth, and prenatal diagnosis alone was not associated with improved outcomes across the studied anomalies.11 The finding should not be read as an argument against prenatal diagnosis. It is a warning against using detection rate as a proxy for what families ultimately experience.
Birth readiness is the work between information and action. For a condition that may require immediate intervention, it can include delivery-site selection, neonatal and specialty coverage, transfer contingencies, imaging or laboratory readiness, medication and equipment availability, blood-bank coordination, palliative-care access when appropriate, a family communication plan, and confirmation that the postnatal team has received the current information. For other findings, the right plan may be a less intensive route with scheduled evaluation and clear safety-net instructions. Standardization should make the next step visible while preserving clinical judgment and family preference.
Newborn screening exposes the difference between “test completed” and “system completed.” A 2026 scoping review of otoacoustic emissions in universal neonatal hearing screening programs in China and India identified program heterogeneity and loss to follow-up as recurring limitations.2 The settings and screening focus differ from United States programs, but the operational lesson travels: a screen has limited value if families cannot reach confirmatory evaluation and appropriate intervention.
Executives should require visibility from specimen or screen through diagnostic resolution. That includes rejected or insufficient specimens, results received after discharge, unreachable families, incorrect contact information, missed appointments, changes in insurance, transportation and language barriers, and referrals declined after full information. Escalation should be proportional to risk and respectful of consent. Teams need documented boundaries for urgent outreach, public-health reporting, and privacy. Families should have one clear contact who can explain the route rather than a list of departments to call.
Discharge teaching is necessary but insufficient. Sleep deprivation, recovery, stress, complex instructions, and uncertainty can make recall difficult. Use teach-back, plain-language written and digital summaries, interpretation, accessible formats, and a specific next appointment or responsible service whenever possible. Confirm the receiving service has accepted the handoff. If capacity is limited, manage the queue transparently and provide interim guidance rather than placing the family in an invisible backlog.
Family experience and coordinated support
Build around the person, not around the organizational chart
Congenital conditions can affect health, development, communication, mobility, learning, daily routines, finances, employment, transportation, caregiving, and relationships in different ways and at different times. Families may need highly specialized clinical care, minimal intervention, or changing combinations of services. They are also experts in their own goals and experience. The reliable route therefore combines clinical expertise with family partnership and rejects a one-size-fits-all story of tragedy, heroism, or cure.
A 2025 systematic review of parent co-design in pediatric healthcare included 70 studies and more than 53,000 participants. Co-design improved relevance or acceptability in some studies, while reporting quality, diversity, sustainability, and scalability remained inconsistent.8 That evidence supports a disciplined approach: involve parents and, where developmentally appropriate, children and young people in designing the route; compensate participation where feasible; recruit beyond the most available advisory members; describe who participated; return findings; and test whether changes endure.
Caregiver burden should be measured without assuming that a diagnosis determines a single family experience. A 2025 study of 48 parents in 31 Italian families affected by Noonan syndrome found abnormally elevated overall parenting-stress scores in 35.4 percent of participants, with lower but still notable proportions across other subscales.10 The sample was small and condition-specific, so the percentages are not a benchmark for all congenital conditions. They illustrate why organizations should ask about caregiver needs directly instead of inferring them from clinical severity.
The medical home can be an organizing platform when it is accessible and resourced. A 2025 analysis of pooled United States National Survey of Children’s Health data represented 61.9 million children and reported that 18.7 percent of families experienced frustration obtaining healthcare services. Only 33.1 percent had both adequate insurance and a medical home, while 21.0 percent had neither.7 A 2021 analysis of 32,299 children with special healthcare needs also associated medical-home-consistent care with greater use of preventive services, fewer unmet needs, easier community-service use, and shared decision-making, while disparities persisted.15 Both studies are observational. They support coordination design, not a claim that a label alone produces outcomes.
Figure 3 · Qualitative fishbone
Why follow-through fragments even when each service is working
Adolescence, adulthood, and continuity
Design for a life, not only for an episode
Many people with congenital conditions need coordinated care beyond childhood. The transition to adult services is not an administrative transfer on a birthday. It is a developmental process that may include health knowledge, self-advocacy, consent and supported decision-making, medication and equipment management, insurance, education and employment, reproductive health, mental health, independent living, caregiver roles, emergency planning, and the identification of adult clinicians with appropriate expertise.
The 2023 updates to the spina bifida transition-to-adult-care guidelines added evidence on structured transition initiatives and reported potential benefits including establishment with adult care, reduced acute utilization, and support for quality of life and condition management.13 The evidence base remains limited and cannot guarantee an outcome for every person. It does, however, support treating transition as planned work with milestones and verification, not as a one-time referral.
Implementation research provides a practical warning. A 2025 qualitative study across six hospitals examined stakeholder perspectives on person-centered transitional care in congenital heart disease. Clear structure, alignment, local champions, and perceived demand helped implementation; limited time and resources, unclear roles, fragmented pediatric-adult collaboration, and reliance on individual initiative hindered it.9 These are management conditions. Leaders can define decision rights, protect staff time, create shared standards, contract for capacity, and make the receiving service’s acceptance visible.
A transition bundle should be co-designed and proportionate. It may include a concise clinical summary, recent test and imaging access, medication and equipment information, emergency considerations, communication preferences, accessibility needs, consent or guardianship documentation where applicable, named clinicians, open orders and referrals, insurance and pharmacy information, the young person’s goals, and unresolved risks. The pediatric team remains accountable until the receiving adult service has accepted the person under the locally defined standard. If no appropriate adult service exists, the gap must be escalated as a capacity and governance issue rather than hidden in a referral queue.
Adult care also needs learning support. Clinicians may be highly skilled in adult medicine but less familiar with the long-term implications of a condition historically managed in pediatric systems. Shared-care agreements, consultation access, case conferences, concise decision aids, and regional networks can reduce dependence on one expert. The person should not have to teach every new clinician the entire pathway without institutional support.
The enterprise operating model
Connect six capabilities around one family-defined route
An executive operating system should be small enough to govern and broad enough to see the whole route. It needs a named executive sponsor, a clinical owner, an operational owner, patient and family partners, a data owner, and explicit links to ethics, disability access, quality, safety, privacy, and community resources. The group should not attempt to standardize every condition. It should standardize the management functions that conditions share: ownership, communication, acceptance, escalation, measurement, and learning.
Figure 4 · Proposed operating-system diagram
Six capabilities surrounding the person and family
Use surveillance as infrastructure, not decoration
Congenital-anomaly surveillance supports public health, service planning, research, and evaluation, but prevalence depends on what is counted and how cases are found. A 2026 scoping review of 58 studies on pediatric genetic-condition prevalence reported that registries were used in 62.1 percent and active case ascertainment in 78 percent; methods materially influenced reported prevalence, and reliance on diagnostic codes alone risked under-ascertainment.5 The Australian registry review similarly documented inconsistency in scope, ascertainment, data linkage, availability, reporting, and quality.4
Executives should therefore resist false precision. A trend may reflect a real change, a coding change, a denominator change, improved detection, migration, delayed reporting, data linkage, or missingness. Every dashboard should show definitions, counts, denominators, time periods, data sources, lag, missingness, small-cell handling, and major limitations. When segmented by race, ethnicity, geography, disability, language, payer, or deprivation, the purpose is to identify inequitable structures and access barriers, not to attribute outcomes to identity.
Learning closes only when an observed gap produces an owned action and a later review. A case of delayed newborn follow-up might reveal bad contact data, an unavailable interpreter, a referral sent to a closed queue, a payer authorization delay, or unclear escalation. The response is different for each. A dashboard that lists the missed interval without examining the mechanism may increase reporting while leaving the route unchanged.
Measurement and safeguards
Measure closed loops, family understanding, and unequal barriers
Begin with a small set of measures linked to decisions. For each measure, define the eligible population, numerator, denominator, start and stop events, exclusions, data source, owner, cadence, segmentation plan, balancing measure, and what action a result can trigger. Display counts next to percentages. Use run charts where volume permits. Review individual failures as well as aggregates, because a rare but severe missed handoff may matter more than a stable average.
Figure 5 · Structured measurement table
Candidate management measures for a locally defined pathway
| Question | Candidate operational definition | Denominator | Owner and cadence | Equity view | Balancing measure or caution |
|---|---|---|---|---|---|
| Did prevention information arrive in time? | Eligible people receiving documented, accessible preconception counseling before the locally defined decision point, percentage | People meeting the local eligibility definition | Primary care and obstetric operations, monthly | Language, geography, payer, disability access, usual source of care | Documentation does not prove understanding, relevance, or voluntariness |
| Did an actionable result close? | Actionable prenatal or newborn results with documented receipt, qualified interpretation, family communication, and accepted next step within the risk-based interval, percentage | Actionable results meeting the local definition | Diagnostic pathway owner, weekly | Result type, language, discharge status, geography, payer | Urgency and preferred communication differ; protect privacy |
| Was birth readiness complete? | Eligible births with an accepted plan covering site, team, contingency, family priorities, and postnatal responsibility before the defined milestone, percentage | Births meeting the clinical readiness definition | Maternal-fetal and neonatal operations, monthly | Distance, transfer requirement, language, rurality | A completed checklist does not prove capacity at the moment of need |
| Did newborn follow-up occur? | Out-of-range or incomplete newborn screens reaching diagnostic resolution or an actively managed exception within the program interval, percentage | Screens requiring follow-up | Newborn-screening coordinator, weekly | Hospital, discharge contact, language, payer, geography | Do not merge different conditions, urgency, or state requirements |
| Did the family understand the route? | People or families answering yes to knowing the next step, responsible contact, and escalation route after an eligible transition, percentage | Respondents after the defined transition | Experience and pathway teams, monthly | Preferred language, format, disability access, digital access | Nonresponse can hide burden; do not treat experience as compliance |
| Was adult care accepted? | Eligible young people with a named adult service that confirmed acceptance and a completed transition bundle by the locally defined age or milestone, percentage | Young people entering the transition cohort | Pediatric and adult clinical owners, quarterly | Condition, geography, insurance, cognitive and communication support | Acceptance does not establish a successful first visit or sustained continuity |
| Did learning produce action? | Recurring pathway failures with an owner, due date, completed change, and post-change review, percentage | Failures accepted into the improvement log | Executive pathway owner, monthly | Compare mechanisms across populations when statistically and ethically defensible | Action closure does not prove benefit or sustainability |
Three safeguards matter. First, do not reward detection without access to confirmation and support. Second, do not interpret a family’s informed choice as a quality failure because it differs from the organization’s default. Third, do not turn an identity category into an explanation. When unequal completion appears, examine appointment supply, referral rules, cost, distance, interpretation, digital requirements, bias, trust, accessibility, and data quality before assigning meaning.
Patient and family experience should be visible alongside operational measures. Ask whether information was understandable, whether choices were respected, whether the person knew who was responsible, whether accessibility needs were met, whether the family had to repeat the same history, and whether practical barriers received an action. Keep questions brief and return findings to participants. Measurement without feedback can reproduce the same one-way relationship the pathway is trying to repair.
A focused executive agenda
Correct one visible failure in ninety days
A ninety-day effort should not promise to transform every congenital-condition pathway. Choose one bounded transition with a measurable failure and leaders able to act. Examples include prenatal finding to counseling, delivery plan to receiving-team acceptance, abnormal newborn screen to diagnostic resolution, pediatric referral to medical-home follow-up, or adolescent transition to adult-service acceptance. Define the population, urgency tiers, safety boundaries, data limitations, and what would pause the pilot.
Figure 6 · Proposed Gantt-style timeline
A 30/60/90-day closed-loop reliability sequence
Text equivalent
Days 0–30 establish owners, boundaries, family partnership, current-state mapping, definitions, and safety controls. Days 31–60 pilot one closed loop, accessible information route, and escalation process while reviewing weekly operational and experience data. Days 61–90 strengthen capacity and backup coverage, return findings, analyze limitations, and decide whether to sustain, scale, redesign, or stop.
Days 0–30: define, listen, and bound the work
Start with recent de-identified cases or process traces where permitted. Follow the chosen transition from the family’s perspective and from each receiving service’s perspective. Identify duplicate storytelling, inaccessible information, ambiguous results, rejected referrals, undocumented acceptance, capacity constraints, and work performed outside formal roles. Include a patient or family partner and compensate their time where possible. Define the smallest set of changes that could close the loop safely.
Create the measurement specification before the dashboard. Document the numerator, denominator, source, timing, missingness, accountable owner, privacy rules, and anticipated equity analysis. Confirm that the public observance page directs readers only to resources that are prepared to receive demand. Do not advertise a route that depends on one unavailable expert or an unmonitored inbox.
Days 31–60: test one closed loop
Pilot with a manageable cohort. Make the responsible owner and receiving service visible. Use a standardized handoff bundle, but allow justified exceptions. Track every failure to mechanism: capacity, unreachable contact, misunderstanding, technical error, eligibility rule, authorization, family choice, or another cause. Review failures quickly enough to protect people currently in the route. Ask participants whether they understood the next step and whether the process respected their priorities.
Days 61–90: strengthen, report, and decide
Compare the pilot with the baseline using counts and clearly defined intervals. Examine burden as well as benefit. Did staff create a shadow spreadsheet? Did families receive more calls but less clarity? Did one service inherit demand without capacity? Did completion improve unevenly? Return results to patient and family partners and frontline teams. Document limitations and adverse effects. Sustain or expand only when ownership, resources, backup coverage, measurement, and escalation can continue after the campaign.
January’s durable output should be a better route, not a louder slogan. Preserve the observance’s awareness value while making one handoff more reliable, one choice more informed, one barrier more visible, and one learning loop more accountable.
Scholarly references
Peer-reviewed evidence used in this brief
The public observance links above establish campaign context. The numbered sources below provide the scholarly evidence. Findings are interpreted within the designs and limitations described in the article.
- Ali, M., Vidavalur, R., & Hussain, N. (2026). A population-based study of U.S. trends in selected congenital anomalies (2016–2023) and socio-demographic disparities: A CDC WONDER analysis. Children, 13(2), 192. https://doi.org/10.3390/children13020192
- Hatzopoulos, S., Cardinali, L., Skarzynski, P. H., & Zimatore, G. (2026). The otoacoustic emissions in the universal neonatal hearing screening in China and India: An update on the Asian states (2005 to 2025). Children, 13(6), 751. https://doi.org/10.3390/children13060751
- Crombag, N. M. T. H., Teeuwen, B., Teuben, S., Kasparian, N. A., Sood, E., Adriaanse, B. M. E., & Bekker, M. N. (2026). Advancing prenatal counseling and support for parents carrying a fetus with a congenital anomaly: A scoping review of key characteristics and practices. American Journal of Obstetrics & Gynecology MFM, 8(2). https://doi.org/10.1016/j.ajogmf.2025.101874
- Riley, M., & Hui, L. (2026). Congenital anomaly registers in Australia: A national challenge. Health Information Management Journal, 55(1), 109–122. https://doi.org/10.1177/18333583251343623
- Gjorgioski, S., Tassos, M., Kilkenny, M. F., Robinson, K., & Riley, M. (2026). Impact of data sources and ascertainment methods on reporting paediatric genetic condition prevalence: A scoping review. Health Information Management Journal, 55(1), 8–24. https://doi.org/10.1177/18333583251352645
- Shekhawat, D. S., Kulkarni, U., Sharma, C., Singh, P., & Singh, K. (2026). Assessing the ethical considerations in the era of advanced prenatal testing and genetic counselling: Clinicians’ perspective. Indian Journal of Community Medicine, 51(2), 223–228. https://doi.org/10.4103/ijcm.ijcm_836_24
- Mehmood, G., & Giannouchos, T. V. (2025). Health care utilization and family frustration: Do health insurance coverage and medical homes for US children matter? Maternal & Child Health Journal, 29(9), 1307–1317. https://doi.org/10.1007/s10995-025-04127-1
- Suna, J., Tanti, D., Merlo, G., Bryant, P., McMullan, B., & Hall, L. (2025). Evaluating co-design approaches with parents in paediatric healthcare: A systematic review. BMC Health Services Research, 25(1), 1–81. https://doi.org/10.1186/s12913-025-13495-x
- Saarijärvi, M., Boczar, M., Skogby, S., Sparud-Lundin, C., & Bratt, E.-L. (2025). Stakeholder perspectives on implementing person-centered transitional care in congenital heart disease: The STEPSTONES-Implement project. BMC Health Services Research, 25(1), 1–10. https://doi.org/10.1186/s12913-025-13645-1
- Perri, L., Viscogliosi, G., Trevisan, V., et al. (2025). Parenting Stress Index in caregivers of individuals with Noonan syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 198(2), e33009. https://doi.org/10.1002/ajmg.b.33009
- Heino, A., Morris, J. K., Garne, E., et al. (2024). The association of prenatal diagnoses with mortality and long-term morbidity in children with specific isolated congenital anomalies: A European register-based cohort study. Maternal & Child Health Journal, 28(6), 1020–1030. https://doi.org/10.1007/s10995-024-03911-9
- Zhou, Q., Dong, G., Wang, Q., Shen, H., Zhang, Y., Zhang, S., Chen, J., & Li, X. (2024). Preconception folic acid supplementation for the prevention of birth defects: A prospective, population-based cohort study in mainland China. BMC Pregnancy and Childbirth, 24(1), 1–10. https://doi.org/10.1186/s12884-024-06283-8
- Fremion, E., Kaufman, M., Mukherjee, S., Murphy, P., & Smith, K. (2023). 2023 updates to the spina bifida transition to adult care guidelines. Journal of Pediatric Rehabilitation Medicine, 16(4), 583–593. https://doi.org/10.3233/PRM-230052
- Wilson, R. D., & O’Connor, D. L. (2021). Maternal folic acid and multivitamin supplementation: International clinical evidence with considerations for the prevention of folate-sensitive birth defects. Preventive Medicine Reports, 24, 101617. https://doi.org/10.1016/j.pmedr.2021.101617
- Wells, R., Daniel, P., Barger, B., Rice, C. E., Bandlamudi, M., & Crimmins, D. (2021). Impact of medical home-consistent care and child condition on select health, community, and family level outcomes among children with special health care needs. Children’s Health Care, 50(2), 171–191. https://doi.org/10.1080/02739615.2020.1852085
