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While birth-related posttraumatic stress disorder (PTSD) rates are rising, obstetric providers are ill-equipped to lead the trauma response. To address this need, we employed the After-Action Review (AAR) method in semistructured interviews with patients who recently underwent unanticipated cesarean deliveries. We performed qualitative analyses to determine if the AAR technique could (1) provide a therapeutic outlet to patients who experienced trauma and (2) elicit patient-derived quality improvement opportunities. Twenty patients and their support people were interviewed during the delivery admission, 3 months postpartum, and via an anonymous survey. Two independent coders analyzed transcripts and themes were generated inductively. All surveyed patients found this process helpful, and 80% suggested an improvement, including educating patients about cesareans earlier and designating a specific staff member to support the patient during a cesarean or code. Five main themes emerged: (1) Mental adaptation to new care plan (reported by 95%), (2) prioritizing safety of baby (85%), (3) external influences on birth expectations (70%), (4) importance of support from various team members (85%), and (5) balance between autonomy and desiring definitive recommendations (75% vs. 30%). Interviewers found the technique easy to apply. AAR provides a novel, effective, and reproducible mechanism for therapeutic debriefing and generating patient-centered opportunities to improve care within obstetrics.

Objective This study aimed to assess health knowledge and patient satisfaction in patients undergoing antenatal surveillance. Study Design This is a cross-sectional study that invited patients >18 years old, English-speaking, presenting for antenatal testing via biophysical profile. Patients completed a survey consisting of questions about health knowledge, demographic information, and patient satisfaction. Results A total of 219 pregnant patients completed the survey. The average score on the health knowledge survey was 71.5% (standard deviation [SD] = 16.5). About 25% replied that coming to the weekly ultrasounds was difficult for them, 4% considered the test invasive, and 7% considered the test stressful to their mental health. Approximately 89% stated they felt the doctors explained the reason for the weekly ultrasound, and 92% of respondents stated they enjoyed the weekly ultrasounds. Among patients who identified as Hispanic/Latino, total antenatal knowledge scores were lower (68%, SD = 17.0) than those who identified as non-Hispanic/Latino (76%, SD = 14.7), p -value < 0.001. As education level increased, the total score increased significantly ( p -value < 0.001). No significant difference in total score was seen between varying racial groups nor between varying provider types. Conclusion We found potential modifiable areas for improving health knowledge due to the different ethnic and educational backgrounds. We found an overall high satisfaction rate among the patients.

Angiotensin II receptor blockers (ARBs) are commonly used for hypertension but are contraindicated in pregnancy due to risks of oligohydramnios, renal dysgenesis, and pulmonary hypoplasia from suppression of the fetal renin-angiotensin system. Olmesartan, a frequently prescribed ARB, has a longer receptor binding half-life and higher affinity than other ARBs, producing more potent and sustained antihypertensive effects. Emerging evidence suggests that stopping ARBs during pregnancy may allow recovery of amniotic fluid and renal function. A 30-year-old primigravida with chronic hypertension presented at 24 weeks' gestation while taking olmesartan. Ultrasound revealed anhydramnios with a normal-appearing fetal genitourinary tract. Olmesartan was discontinued and replaced with labetalol. Within 2 weeks, the amniotic fluid index normalized, and subsequent ultrasounds showed sustained recovery. At 34 weeks, she delivered a viable male infant with reassuring renal function and only mild, improving calyceal dilation on postnatal ultrasound. This is, to our knowledge, the first reported case of reversible anhydramnios associated with first- and second-trimester olmesartan exposure. The favorable outcome highlights the potential for reversibility of ARB-related fetopathy with timely cessation. Clinicians should consider serial ultrasound monitoring before recommending termination, as early drug withdrawal may restore amniotic fluid and support normal neonatal outcomes.

Emerging blood tests may improve colorectal cancer (CRC) screening uptake and outcomes but are less sensitive for advanced precancerous lesions than some currently recommended tests. We examine whether these tests meet expectations for the US Preventive Services Task Force (USPSTF) recommendation. A decision-analytic model that informed USPSTF was replicated and used to estimate the lifetime benefits (averted CRC cases and deaths, life-years gained [LYG]), burdens (required screening tests and colonoscopies), and harms (colonoscopy-related complications) for annual, biennial, or triennial blood testing through age 45-75&#x2009;years vs a benchmark of recommended and contemporary stool-based strategies, with colonoscopy screening as the reference. Base-case analyses assumed 100% adherence. Sensitivity analyses evaluated more realistic scenarios. Among benchmark strategies, colonoscopy screening had the most benefit, with an estimated 30 CRC deaths averted, 356 LYG, 4270 colonoscopies required, and 15 complications per 1000 adults; stool-based strategies resulted in 81% to 88% of LYG for colonoscopy, 6829-19&#x200a;476 screening tests, 1523-1880 colonoscopies, and 9-10 complications. By comparison, annual blood testing resulted in 85% to 87% of LYG for colonoscopy and an intermediate number of screenings, colonoscopies, and complications. Biennial and triennial blood testing provided 57% to 72% of LYG for colonoscopy but resulted in net population benefit under plausible scenarios for increased utilization vs existing strategies. The estimated benefits, burdens, and harms of annual blood testing are within the range of current CRC screening strategies. Biennial and triennial testing should also be considered for recommendation given the potential for increased utilization and net population benefit.

This study aimed to identify factors related to the successful induction of labor (IOL) among pregnancies complicated with fetal growth restriction (FGR). We performed a retrospective cohort study between January and December 2024 at Orl&#xe9;ans University Hospital, Orl&#xe9;ans, France. The study enrolled all singleton pregnancies complicated by FGR and underwent IOL. Logistic regression was used to reveal the associated factors relating to the success of IOL, following two criteria, including Bishop score after IOL greater than 7 points (criterion 1) and vaginal birth (criterion 2). Bishop score had a negative correlation with IOL duration. This study did not find statistically significant clinical factors related to the success of the Bishop score change of more than 7 points. However, absence of Doppler abnormalities and IOL at term, more than 37 weeks, were related to the success rate of vaginal delivery (OR [95% CI]: 22.5 [3.240-156.269] and OR [95% CI]: 22.5 [3.240-156.269], respectively; p &#x2009;<&#x2009;0.05). Bishop score before IOL helps in reducing the duration of IOL. In FGR pregnancies with a normal Doppler ultrasound scan and gestational age at IOL greater than 37 weeks, these are good prognostic factors for vaginal delivery; however, further research is needed to explore more associated factors.

Elranatamab, a BCMA-CD3 bispecific antibody, has demonstrated robust activity in relapsed/refractory multiple myeloma (RRMM), but real-world outcomes remain poorly defined. We conducted a multicenter retrospective study of 130 patients treated with commercial elranatamab across nine U.S. academic centers. The cohort was heavily pretreated (91% triple-class refractory, 49% penta-refractory), with 49% previously exposed to BCMA-targeted therapies. Only 22% would have met eligibility for MagnetisMM-3 cohort A. The overall response rate (ORR) was 65%, including &#x2265;CR in 36%. Median progression-free survival (PFS) and overall survival (OS) were 4.3 and 14.6 months, respectively, shorter than MagnetisMM-3. Elevated LDH and low hemoglobin independently predicted poor outcomes and were incorporated into the novel ALPS (Anemia-LDH Prognostic System) score, which stratified patients into distinct risk groups for ORR, OS, PFS, and duration of response. Prior BCMA exposure reduced depth of response, with inferior OS observed in those treated within one year of prior therapy. Infections occurred in 38% of patients. Intravenous immunoglobulin supplementation, modeled as a time-dependent covariate, was associated with improved infection-free survival and PFS. While the incidence of CRS was modestly lower than in MagnetisMM-3, ICANS occurred more frequently in this real-world cohort. These findings highlight the efficacy, limitations, and supportive care needs of elranatamab in a frailer, more heterogeneous real-world RRMM population.

Thyroid storm is a rare, life-threatening endocrine emergency in pregnancy with significant maternal and neonatal implications. Clinical symptoms may mimic those of hypertensive disorders in pregnancy. Prompt diagnosis and multidisciplinary management are critical for reducing maternal and neonatal morbidity and mortality. A 31-year-old woman with a dichorionic diamniotic twin pregnancy, chronic hypertension, short cervix, and poorly controlled Graves' disease presented at 22 weeks' gestation with vaginal bleeding and severe-range blood pressures. She was diagnosed with thyroid storm and admitted to the intensive care unit. She failed to respond to maximal medical management, ultimately requiring plasmapheresis. She later developed preterm labor and spontaneously delivered periviable twins. She eventually underwent total thyroidectomy for definitive management of thyroid storm. This case illustrates the severe consequences of poorly controlled Graves' disease in pregnancy. Although thyroid storm can mimic preeclampsia, abnormal thyroid function tests, persistent tachycardia, fevers, and hypertension with wide pulse pressures may help distinguish it. Timely recognition and multidisciplinary care are imperative to decrease morbidity and mortality associated with thyroid storm.

Recurrent anterior shoulder instability rates are high after isolated arthroscopic Bankart repair (ABR), especially among patients with off-track Hill-Sachs lesions (HSLs) and significant glenoid bone loss. However, there are limited data on long-term recurrent anterior shoulder instability rates and patient-reported outcomes (PROs) following isolated ABR among patients with on-track HSLs and <20% glenoid bone loss. To evaluate long-term clinical outcomes and PROs after isolated ABR for on-track HSLs with <20% glenoid bone loss, a population where isolated ABR remains indicated. Case-control study; Level of evidence, 3. A retrospective review was conducted on patients undergoing isolated ABR for anterior shoulder instability between 2007 and 2018. Exclusion criteria included age <14 or >40 years, glenoid bone loss >20%, off-track HSL, concomitant remplissage, and revision procedures. All patients were contacted to obtain minimum 7-year clinical outcomes, including recurrent anterior shoulder instability and revision stabilization surgery, as well as PRO measures including Western Ontario Shoulder Index (WOSI), pain visual analog scale (pVAS), and Subjective Shoulder Value scores. Variables were compared between recurrent anterior shoulder instability and revision stabilization surgery groups. Significance was set to P < .05. Long-term outcomes were obtained from 55 patients (mean age, 22 years; 32% of all eligible patients) at a mean follow-up of 10.4 years. Seventeen (31%) patients sustained &#x2265;1 recurrent anterior shoulder instability event, and 8 (15%) patients underwent revision stabilization surgery. Younger age (P = .002) and collision athletics (P = .02) were associated with sustaining recurrent anterior shoulder instability, whereas distance to dislocation was not associated with recurrent anterior shoulder instability (P = .59). However, near-track HSLs (P = .02) and increased glenoid bone loss (P = .007) were associated with undergoing revision stabilization surgery. For every 1% increase in glenoid bone loss, there were 19% higher odds of undergoing revision stabilization surgery (P = .02). With regard to PROs, 67% of patients achieved the Patient Acceptable Symptom State (PASS) for WOSI and 55% of patients achieved the PASS for pVAS. Patients with recurrent anterior shoulder instability were less likely than those without recurrent instability to achieve the PASS for both WOSI (24% vs 87%; P < .001) and pVAS (29% vs 66%; P = .01). Rates of recurrent anterior shoulder instability were high following isolated ABR for on-track HSLs with <20% glenoid bone loss and were associated with inferior PROs at mean 10-year follow-up. Younger age and collision athletics were associated with sustaining recurrent anterior shoulder instability, while increased glenoid bone loss was an independent predictor of undergoing revision stabilization surgery. There remains a clinical need for improved stratification of on-track HSLs to identify patients who may benefit from additional procedures to improve recurrent anterior shoulder instability rates and subjective outcomes at long-term follow-up.

Poikiloderma with neutropenia is an autosomal recessive condition characterized by postinflammatory poikiloderma and chronic neutropenia. To date, there is no published literature reporting on the impact of pregnancy on this rare genetic disorder. This case highlights a successful pregnancy outcome in a 26-year-old gravida 1 para 0 female with poikiloderma with neutropenia. Her pregnancy was complicated by thrombocytopenia, low fetal fraction, and high-risk cell-free DNA result. The findings of low fetal fraction and high-risk aneuploidy were unexpected given normal neonatal outcome. It is not yet well understood whether these findings are related to the genetic condition itself or use of medications used to manage her condition.

Magnetic graphs, originally developed to model quantum systems under magnetic fields, have recently emerged as a powerful framework for analyzing complex directed networks. Existing research has primarily used the spectral properties of the magnetic graph matrix to study global and stationary network features. However, their capacity to model local, nonequilibrium behaviors, often described by matrix powers, remains largely unexplored. We present a combinatorial interpretation of the magnetic graph matrix powers through directed walk profiles-counts of graph walks indexed by the number of edge reversals. Crucially, we establish that walk profiles correspond to a Fourier transform of magnetic matrix powers. The connection allows exact reconstruction of walk profiles from magnetic matrix powers at multiple discrete potentials, and more importantly, an even smaller number of potentials often suffices for accurate approximate reconstruction in real networks. This shows the empirical compressibility of the information captured by the magnetic matrix. This fresh perspective suggests further applications; for example, we illustrate how powers of the magnetic matrix can identify frustrated directed cycles (e.g., feedforward loops) and can be effectively employed for link prediction by encoding local structural details in directed graphs.

The Total or Partial Knee Arthroplasty Trial (TOPKAT) aimed to evaluate the difference between total knee replacement (TKR) and partial (unicompartmental) replacement (PKR) for treatment of late-stage medial compartment knee osteoarthritis. As longevity is a key issue for joint replacement, extended follow-up periods are required to fully evaluate the long-term efficacy. In this analysis, we report the 10-year follow-up of the TOPKAT trial. TOPKAT was a multicentre, randomised, pragmatic comparative effectiveness trial including an expertise component. Patients with medial compartment knee osteoarthritis were enrolled from 27 UK National Health Service (NHS) hospitals and randomly assigned (1:1) to receive PKR or TKR by surgeons who were either expert in and willing to perform both surgeries or by a surgeon with particular expertise in the allocated procedure. Neither surgeons, patients, nor follow-up assessors were masked to allocation, but the implant type was not highlighted at any stage. The primary long-term endpoint was the Oxford Knee Score (OKS) in the intention-to-treat population at 10 years. Cost effectiveness was also assessed. Individuals with relevant lived experience were involved in the study design. This trial is registered with ISRCTN03013488 and ClinicalTrials.gov, NCT01352247, and is complete. Between Jan 18, 2010, and Sept 30, 2013, of 962 patients assessed for eligibility, 528 patients (306 [58%] male, 222 [42%] female, mean age 65 years [SD 8&#xb7;7]) were randomly assigned (PKR n=264; TKR n=264). Follow-up primary outcome response rate for eligible patients (excluding those who had died or withdrew) at 10 years was 326 (73%) of 444. Both operations provided good outcome. The between-group estimates ruled out any individually clinically meaningful differences in mean OKS scores (mean difference 0&#xb7;27, 95% CI -1&#xb7;59 to 2&#xb7;13) or cumulatively over 10 years in the area under the curve analysis (mean difference 0&#xb7;45, 95% CI -0&#xb7;98 to 1&#xb7;88). At 10 years, by treatment received, complications were 53 (22%) of 245 for PKR and 74 (27%) of 270 for TKR, reoperations (including revision) were 21 (9%) for PKR and 23 (9%) for TKR, and revision rates were 15 (6%) for PKR and 11 (4%) for TKR. By treatment allocated, for PKR and TKR respectively, complication occurred in 55 (21%) of 263 and 72 (29%) of 252, reoperations in 20 (8%) and 24 (10%), with revisions in 13 (5%) and 13 (5%) patients. PKR was more cost-effective compared with TKR, being associated with increased health benefits (mean difference in quality-adjusted life years of 0&#xb7;322, 95% CI -0&#xb7;069 to 0&#xb7;712) and lower health-care costs (mean difference in cost -&#xa3;731, 95% CI -1352 to -110). 10-year results comparing TKR and PKR show similar clinical outcomes, reoperation rates, and revision rates, but cost effectiveness is in favour of PKR. National Institute for Health and Care Research Health Technology Assessment Programme.

Chorionic villus sampling (CVS) is a diagnostic procedure that can be performed between 10 0/7 and 13 6/7 weeks to detect genetic abnormalities; however, a majority of providers opt to perform CVS after 11 weeks. This study evaluated the feasibility of CVS performed at varying gestational ages, comparing chorionic villi (CV) yield and procedural outcomes among early, typical, and late procedures. This multicenter retrospective study included patients with CVS categorized as early (10 0/7 -10 6/7 weeks), typical (11 0/7 -13 6/7 weeks), and late CVS (&#x2265;14 0/7 weeks). The primary outcome was median CV weight. Secondary outcomes included need for culture, time to microarray results, and a subanalysis of abnormal chromosomal microarray analysis (CMA) results, obstetric, and neonatal outcomes. Of 719 patients, 8.1% underwent early, 83.2% typical, and 8.8% late CVS. The early cohort had a lower body mass index (BMI). Early CVS was most frequently performed transvaginally and for the indication of prior affected pregnancy, and less likely for abnormal genetic screening or ultrasound findings. Median villi weight did not differ significantly, and 89% of all procedures yielded adequate tissue, defined as &#x2265;5&#x2009;mg. The time to the microarray result was shortest in the typical group. There were no significant differences in other secondary outcomes of need for culture, number of passes, or procedure-related complication rates. There was no case of limb anomalies. CVS performed before 11 weeks and after 14 weeks demonstrated comparable microarray outcomes and demonstrate the technical feasibility and diagnostic adequacy of CVS performed outside the typical gestational window. The results also support the availability of early CVS for cytogenetic testing in early pregnancy loss, where management may not allow for direct tissue testing. Prospective studies are warranted to validate these results and refine recommendations for optimal timing of CVS.

Group B Streptococcus (GBS) is the leading cause of sepsis, pneumonia, and/or meningitis in neonates. Insertion of an umbilical catheter (UC) is a common practice in neonatal intensive care for primary central vascular access in extreme premature neonates. UC is used for the administration of intravenous medications, parenteral nutrition, blood samplings, and continuous central blood pressure monitoring. Malposition or migration of UC tends to occur in extreme premature infants with risks of multiple complications. We present a case of an extreme premature neonate who developed fatal GBS sepsis with autopsy findings of multiple cardiac abscesses in the myocardium but not in any other organ. GBS sepsis with isolated multifocal myocardial abscesses leading to sudden fatal clinical deterioration has not been described previously. In this review, we describe the plausible pathological mechanism of this rare presentation. Intracardiac migrated UC, in conjunction with rhythmic heart contractions and intracardiac blood flow dynamics, can cause direct trauma to the endocardium. Damaged endocardium can be a potential nidus for bacterial overgrowth and abscess formation that ultimately may lead to cardiac failure. Therefore, the correct aseptic technique of securing and management of UC, and daily assessment of UC position are recommended to prevent complications associated with catheter migration.

The literature is limited regarding the use of recombinant tissue plasminogen activator (r-tPA) in premature infants. We describe the use of r-tPA to treat life-threatening intra- and extracardiac thrombi in a very low birth weight patient born at 23 weeks of gestational age. An extremely premature infant was diagnosed with multiple thrombi at 4 weeks of age. The acute phase of treatment was managed with an infusion of r-tPA followed by unfractionated heparin, then low-molecular-weight heparin for continued anticoagulation. The patient did not experience any side effects associated with the therapies and was discharged home. Thrombotic events in neonates, though rare, are being increasingly identified due to improved survival of premature infants, enhanced diagnostic modalities, and the widespread use of central venous catheters. Heparin remains the standard of care in neonates for anticoagulation. Thrombolytic therapy with agents such as r-tPA, though less frequently employed, may be lifesaving in certain instances, such as the one presented in this case report.

During pregnancy, total blood volume increases by about 40%. As gestation advances, blood volume to the pelvic region increases significantly. Due to the enlarging uterus, the venous return from the lower body decreases with advancing gestational age. The pooling and stasis of blood in the lower body can lead to the formation of varices, affecting the lower extremity, vulva, and vaginal regions. Varicosities in the lower extremities and vulva are not uncommon and often asymptomatic. Vulvar varicosities are more common in women with varicosities in the lower extremities. On the other hand, vaginal varicosities are extremely rare and mentioned only in case reports. Although asymptomatic, vaginal varicosities could become a concern for hemorrhage risk during vaginal delivery. There is little information in the current medical literature about the diagnosis and management of large vaginal varicosities during pregnancy. Design We present a case of a primigravida with very large prolapsing vaginal varicosities that presented as a large external mass at 36 weeks of gestation. The patient was managed expectantly during the antenatal period. She was delivered via an elective scheduled cesarean section. An almost complete resolution of the vaginal varices was noted at 6 hours postoperatively, with complete resolution reported on postoperative day 22. Due to the rarity of the condition, we hope to add our experience to the literature.

Objective This study's primary objective was to characterize obstetrical providers' knowledge and utilization of noninvasive prenatal testing (NIPT) for 22q11.2 deletion screening. Study Design A one-time survey was distributed to physicians, nurse practitioners, and midwives. Participants answered 18 multiple-choice questions pertaining to demographic information, clinical use of carrier and NIPT, and knowledge regarding use of NIPT for 22q11.2 deletion syndrome. Responses were descriptively analyzed based on years of clinical experience and provider subspecialty. Results Twenty-two providers responded to the survey: six Obstetrics and Gynecology (OB/GYN) resident physicians, 10 OB/GYN generalist physicians, three Maternal-Fetal Medicine physicians, two nurse practitioners, and one midwife. All resident physicians reported never ordering 22q11.2 deletion NIPT, despite using a Trisomy screening panel, which includes 22q11.2 deletion as an opt out. Conversely, all experienced physicians ( n = 13) reported using expanded panels and screening for 22q11.2 deletion. Only half of our sample who completed the survey ( n = 10) felt adequately informed to counsel patients on screening results and procedures. Conclusion Our findings demonstrate an association between years in practice and the utilization of 22q11.2 deletion NIPT screening. Enhanced educational initiatives beginning during residency are necessary to improve provider knowledge on 22q11.2 deletion screening, information regarding test ordering, and counseling procedures.

Feeding intolerance and growth failure commonly complicate recovery in infants with complicated intestinal atresia, often requiring prolonged human milk fortification after hospital discharge. Our objective was to describe a novel fortification strategy that enabled an exclusive mother's own milk (MOM) diet during postdischarge fortification in a medically complex infant with feeding intolerance. This case report details the use of freeze-dried mother's own milk (FDMOM) to fortify expressed MOM in a late preterm infant with complicated atresia and congenital shortened bowel to resolve feeding intolerance and weight faltering. Freeze-drying of MOM took place at a commercial facility using SafeDry, a patented contact-free process. FDMOM was used to increase the caloric density of expressed MOM under medical supervision using a targeted fortification approach. The patient tolerated unfortified MOM but developed severe fussiness, abdominal distention, and increased stooling upon fortification with hypoallergenic formulas. These symptoms resolved within 24&#x2009;hours of transitioning to FDMOM fortification. Remarkably, the infant went from the 24th percentile for weight-for-age to the 66th percentile within 86 days. FDMOM fortification may represent a novel, well-tolerated strategy to support growth while maintaining an exclusive MOM diet in infants after complex gastrointestinal surgery and hospital discharge.

Objective Transient abnormal myelopoiesis (TAM) is a self-limited clonal myeloproliferative disorder seen almost exclusively in neonates with trisomy 21 and defined by circulating myeloblasts carrying N-terminal truncating GATA1 mutations. Although most cases occur in infants with typical Down syndrome features, TAM can arise in clinically normal newborns with mosaic trisomy 21, creating significant diagnostic uncertainty. Study Design We report a term female neonate who presented with pallor, respiratory distress, hepatosplenomegaly, and a papular, nonblanching rash. Results Laboratory studies showed marked thrombocytosis, leukocytosis, and numerous circulating blasts. Flow cytometry detected a 17% abnormal blast population resembling congenital acute myeloid leukemia, but bone marrow aspirate revealed a myeloproliferative picture without definitive malignancy, favoring TAM. Molecular testing confirmed a truncating GATA1 mutation and mosaic trisomy 21 by SNP array, fluorescence in situ hybridization, and microarray. The infant's condition improved rapidly, with resolution of organomegaly and normalization of blood counts in the first week of life. Conclusion This case underscores the diagnostic challenges of TAM in phenotypically normal infants. Because clinical and laboratory findings can closely mimic congenital leukemia, early evaluation for GATA1 mutations and trisomy 21 is essential to establish the correct diagnosis, guide management, and avoid unnecessary chemotherapy.

Background: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder that causes alveolar hypoventilation because of impaired chemoreceptor response to hypercapnia and hypoxia occurring due to a dysfunctional central autonomic drive. CCHS is a result of pathogenic variants of the PHOX2B gene, which affects neural crest cell development. Consequently, CCHS can be accompanied by dysregulation of the autonomic system, Hirschsprung's disease and other gastrointestinal disorders, cardiac arrhythmias, and neural cell-derived tumors. Disease severity correlates with mutation type and determines ventilatory requirements, with management centered on lifelong respiratory support and multidisciplinary monitoring for associated comorbidities. Case Presentation: This case describes a term infant delivered via emergency cesarean section for maternal hypotension and fetal bradycardia who presented with apnea and required intubation due to failure to respond to positive pressure ventilation. The infant experienced recurrent apnea, hypercarbia, and ventilator dependence due to multiple failed extubation attempts, with an unrevealing evaluation for pulmonary, cardiac, neurologic, metabolic, and infectious causes. Genetic testing identified a PHOX2B polyalanine repeat expansion consistent with CCHS. This case demonstrates a stepwise multidisciplinary approach with concurrent genetic evaluation that enabled early diagnosis, timely management, and improved outcome.