Background Pneumatoceles are air-filled cystic lesions within the lung parenchyma, often arising from severe pneumonia or mechanical ventilation-induced lung injury, which pose significant risk, particularly in neonates requiring high positive-pressure ventilation. Traditional management includes conservative monitoring, percutaneous drainage, and/or surgical intervention. High-frequency ventilation is frequently employed to minimize barotrauma. Case Summary We present a neonate born at 29 0/7 weeks of gestation, weighing 780 g. Post-delivery, the patient developed pneumonia, leading to multiple refractory bilateral pneumatoceles and transfer to our hospital. Initial management included high-frequency jet ventilation and inhaled nitric oxide, with limited improvement over 3 weeks, after which we initiated neurally adjusted ventilatory assist (NAVA), leading to significant clinical improvement. Radiographic imaging showed rapid improvement of the pneumatoceles on NAVA, with complete resolution observed at outpatient follow-up. Discussion This case demonstrates successful management of refractory bilateral pneumatoceles using NAVA. Its patient-driven approach provides synchronized, gentle ventilation, crucial for treating pulmonary air leak syndromes and facilitating natural weaning. NAVA's dynamic adjustments and ability to closely match ventilatory support to the patient's neural respiratory drive using less peak inspiratory pressure offers a promising strategy for managing complex pulmonary conditions, such as pneumatoceles, in neonates.
Objective Moyamoya disease is a rare progressive cerebrovascular disorder characterized by stenosis of the intracranial internal carotid arteries and formation of fragile collateral vessels, predisposing patients to ischemic and hemorrhagic stroke. Physiologic changes of pregnancy-including increased blood volume, systemic vasodilation, and augmented cerebral blood flow-may increase cerebrovascular vulnerability and complicate management. Study Design We describe three pregnancies complicated by moyamoya disease managed at a tertiary referral center in West Texas. All patients had undergone prior cerebral revascularization and were followed by neurology before conception. Antithrombotic strategies varied by individual risk factors and included aspirin or low-molecular-weight heparin. Comorbidities included pregestational diabetes with dichorionic diamniotic twins, homozygous factor V Leiden, and Chiari malformation with MTHFR mutation. Results Two patients underwent planned cesarean delivery with favorable maternal and neonatal outcomes following multidisciplinary management. The third developed preeclampsia with severe features at 32 weeks and experienced sudden neurologic deterioration. Despite emergent cesarean delivery, she suffered a fatal intracerebral hemorrhage. Conclusion These cases highlight the spectrum of pregnancy outcomes in patients with moyamoya disease and emphasize the importance of multidisciplinary care, strict blood pressure control, and careful neurologic surveillance.
Objective This study aimed to evaluate the feasibility and temperature stability of low-complexity therapeutic hypothermia (TH) in neonates with moderate-to-severe hypoxic-ischemic encephalopathy (HIE). Study Design Retrospective case series of neonates born at ≥36 weeks of gestation with moderate-to-severe HIE treated with low-complexity TH in a tertiary-level hospital in Peru (2018-2024). Variables included timing of initiation, achievement and maintenance of the target core temperature, duration of hypothermia, and clinical outcomes. Descriptive statistics were used. Results A total of 13 neonates were included (77% male; median gestational age 38 weeks). TH was initiated at a median of 103 min after birth. Within the first 6 hours, 84.6% reached 34°C; however, only 31% maintained a stable core temperature within the target range (33.5-34.5°C) throughout treatment. Median duration of hypothermia was 75 hours. Complications occurred in 23.1% of cases, and overall mortality was 15.4%. Conclusion Low-complexity TH is feasible and allows timely initiation within the neuroprotective window. However, maintaining stable therapeutic temperatures remains a major challenge, which may compromise its potential neuroprotective effectiveness.
Objective This study aimed to explore potential medical, sociodemographic, and maternal mental health (MMH) factors associated with parental engagement in the neonatal intensive care unit (NICU) among mother-infant dyads, followed through a fetal center (FC). Study Design This exploratory pilot study used mixed retrospective and prospective data collection at a Level IV NICU and affiliated FC between June and August 2023. The primary outcome was cumulative parental bedside presence during the first postnatal month. Secondary outcomes included time to first parental visitation, skin-to-skin (STS) care, expressed breast milk (EBM) provision, and MMH indicators. Maternal and infant clinical and sociodemographic variables were retrospectively abstracted from the electronic medical record, while parental visitation patterns were prospectively tracked using bedside documentation tools. Results Sixteen mother-infant dyads were included. Mean time to the first parental visitation was 7.6 h, and mean time to first STS contact was 8.3 days. Exploratory analysis identified patterns suggesting differences in parental engagement by language, insurance status, and MMH indicators. African American parents visited earlier than Caucasian and Hispanic parents ( p = 0.05). Descriptively, English-speaking and privately insured families initiated STS earlier than Spanish-speaking and publicly insured families. Earlier parental visitation was also observed among mothers providing EBM at postnatal day 14 ( p = 0.016). Mothers prescribed psychotropic medications experienced longer delays to first visitation ( p = 0.046). Given the small sample size and exploratory design, findings should be interpreted cautiously. Conclusion In this exploratory pilot cohort of FC mother-infant dyads, parental engagement patterns appeared to vary across sociodemographic and MMH-related factors. These preliminary findings support the feasibility and importance of larger prospective studies examining structural and psychosocial barriers to early parental participation in high-risk NICU populations.
Background: Globicatella sanguinis is a rare α-hemolytic gram-positive coccus increasingly recognized as a human pathogen but remains an uncommon cause of neonatal invasive infection. Reported neonatal cases are limited, and optimal antimicrobial therapy is uncertain because Clinical and Laboratory Standards Institute (CLSI) susceptibility breakpoints are unavailable.Case Presentation: A term female neonate born at 39 weeks and 3 days via vacuum-assisted vaginal delivery after an in vitro fertilization pregnancy developed respiratory distress and lethargy shortly after birth. Delivery was complicated by umbilical cord avulsion causing acute blood loss and hypovolemia. Initial evaluation demonstrated metabolic acidosis, leukocytosis, bandemia, and a rapid hematocrit decline requiring packed red blood cell transfusion. Blood culture obtained at birth grew Globicatella sanguinis/sulfidifaciens within 12 hours, while cerebrospinal fluid culture remained sterile. Empiric ampicillin and gentamicin were initiated; repeat blood cultures were negative. Susceptibility testing yielded MIC values without CLSI interpretation. Following infectious disease consultation, the infant completed a 10-day course of intravenous ampicillin from the first negative blood culture and recovered without complications.Conclusion:This case highlights the diagnostic overlap between hemorrhagic shock and earlyonset neonatal sepsis and emphasizes the management challenges posed by rare pathogens lacking standardized susceptibility criteria and evidence-based neonatal treatment recommendations.
Background Gestational diabetes mellitus (GDM) negatively affects newborns. Several studies have reported new-onset diabetes associated with coronavirus disease 2019 (COVID-19). Multiple pathophysiological mechanisms have been proposed to explain the relationship between COVID-19 and glycemic dysregulation in neonates. We assessed neonatal outcomes among mothers with diabetes during the COVID-19 pandemic. Methods This retrospective descriptive study included mothers with diabetes (Type 1, Type 2, and GDM) who were COVID-19 positive at least 24 h before delivery and those who were negative, to compare newborn outcomes. The study was conducted at King Saud University Medical City, Riyadh, from January 2020 to December 2022. Results A total of 669 diabetic mothers were included; 23 were COVID-19 positive at delivery. Sixteen had Type 1, 59 had Type 2, and 572 had GDM. Most managed diabetes by diet. Among newborns, 128 (18.6%) in the COVID-19-negative group and 8 (34.8%) in the COVID-19-positive group developed hypoglycemia. Of these, 105 required neonatal intensive care unit (NICU) admission. Most were treated with intravenous dextrose, and five needed glucagon. Mean NICU stay was 12.9 days for negatives and 7 days for positives. One intrauterine fetal death occurred in the negative group. Conclusion Hypoglycemia occurred mainly within the 1 h and resolved with early feeding. Immediate postnatal feeding and screening at 2 h are recommended. No significant differences were found in short-term neonatal outcomes between COVID-19-positive and negative mothers.
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.
Funic presentation refers to umbilical cord loops positioned between the presenting fetal part and the internal cervical os. While often transient, persistent positioning due to anatomic predisposition represents a high-risk variant and a potential precursor to cord prolapse. We report the case of a 39-year-old pregnant woman with a velamentous cord insertion in whom the umbilical cord remained persistently positioned over the cervical os, a presentation we term "obligate funic presentation." The patient's prenatal care was uncomplicated, and an ultrasound at 36 weeks identified umbilical cord loops over the internal os. She was admitted for close monitoring and subsequently developed regular preterm contractions with cervical change and recurrent variable decelerations that persisted despite resuscitative efforts. A cesarean delivery was performed at 36 weeks without evidence of cord prolapse at the time of delivery. A healthy male infant was delivered, who did not require neonatal intensive care unit (NICU) admission. Placental pathology revealed a marginal cord insertion. This case highlights an obligate funic presentation occurring in the absence of placenta previa when the cord insertion is velamentous or marginal. Early recognition is critical, as this uncommon but high-risk condition may predispose to cord compression or prolapse, necessitating heightened surveillance and individualized delivery planning and patient counseling.
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.
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.
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 Sickle cell disease (SCD) in pregnancy is associated with substantially increased risks of stillbirth and neonatal death due to vaso-occlusive crises, chronic anemia, and impaired placental perfusion. Case We present the case of a 25-year-old primigravida with HbSS disease who presented at 29 weeks' gestation with a vaso-occlusive pain crisis. Although she was initially clinically stable with reassuring fetal testing, she developed acute fetal distress on hospital day 3, prompting an emergent cesarean delivery. Intraoperatively, the uterus appeared profoundly hypoperfused with minimal bleeding despite uterine atony. The neonate was delivered in asystole and required prolonged resuscitation. Postresuscitation examination raised concern for severe hypoxic ischemic encephalopathy, and the parents elected to transition to comfort care. The neonate died shortly after withdrawal of life-sustaining interventions. Placental pathology demonstrated prominent sickled erythrocytes and increased fetal nucleated red blood cells, consistent with prolonged impaired oxygen delivery. Conclusion This case highlights the unpredictable and acute nature of fetal compromise in pregnancies complicated by SCD, which may occur prior to guideline-recommended antenatal surveillance. Although prophylactic transfusion remains controversial, emerging evidence suggests a potential benefit in selecting high-risk patients. Early multidisciplinary management, individualized transfusion strategies, and heightened vigilance for sudden fetal decompensation are essential to improving perinatal outcomes in SCD.
Introduction Myelomeningocele (MMC) is a type of open neural defect that involves exposure of the meninges and neural elements. There are fewer than 30 cases of twins with concordant MMCs reported in the literature. We discuss a case of dichorionic-triamniotic triplets in which the monochorionic-diamniotic pair was diagnosed antenatally with MMC. Case Summary The mother presented for routine prenatal care at 11 weeks of gestation as a 31-year-old G5P4003. A limited ultrasound at 18 weeks of gestation confirmed her estimated due date, and three viable fetuses were observed. She was found to have dichorionic-triamniotic triplets with Triplet A and Triplet B sharing a placenta. A detailed anatomic survey demonstrated MMC of Triplet B at L4-S2 and a suspected open neural tube defect in Triplet A. Triplet C had no apparent defects on ultrasound. MMC of Triplets A and B was confirmed postnatally. Chromosome microarray analyses for the triplets were normal. Discussion Most cases of MMC in monozygotic twins are nonconcordant, and the role of genetics remains ambiguous. Our case suggests a possible shared genetic etiology. Future studies may investigate the potential for a single-gene mutation driving the development of MMC.
Background Prenatal cell-free DNA (cfDNA) screening has revolutionized the prenatal detection of fetal aneuploidy and other conditions. Originally designed to identify risk for trisomy 21, cfDNA screening has expanded to other fetal aneuploidies, microdeletion syndromes, dominant de novo single-gene disorders, and now autosomal-recessive single-gene conditions. The advancement of cfDNA screening offers patients and providers more options for prenatal risk assessment. Case A 34-year-old G2P1001 patient received a false-negative result from one single-gene noninvasive prenatal testing (sgNIPT), also known as prenatal single-gene cfDNA screening, for fetal cystic fibrosis, followed by a discrepant true-positive result on a different sgNIPT platform. The patient has a prior child affected with cystic fibrosis. The second laboratory returned a high-risk result for fetal cystic fibrosis, which was confirmed with diagnostic amniocentesis. Conclusion Prenatal sgNIPT screening should be individualized after appropriate counseling on the benefits and limitations of available screening and diagnostic tests. While diagnostic amniocentesis remains the society-recommended gold standard for prenatal diagnosis of autosomal-recessive conditions, these new, noninvasive technologies provide more options for patients who either do not want to assume the risks associated with or to better guide decision-making for diagnostic testing.
Objective:This study aimed to examine the relationship between continuous glucose monitoring (CGM) metrics during gestational diabetes mellitus (GDM)-affected pregnancy and postpartum cardiometabolic measures in a pilot study. Study Design:We enrolled participants >6 months postpartum from a previous GDM trial where they wore a CGM during the third trimester. At the postpartum visit, we assessed hemoglobin A1c (HbA1c) and blood pressure (BP). We used linear regression models adjusted for age and body mass index (BMI) at the time of CGM wear to test for a relationship between pregnancy CGM metrics (mean glucose, coefficient of variation, time in pregnancy range 63-140 mg/dL [pTIR], time >120 and >140 mg/dL) and postpartum outcomes (HbA1c and BP). Results:Of 14 eligible participants with pregnancy CGM data, 11 (79%) returned at a mean of 20.3 months postpartum (range 11-33). Age and BMI during pregnancy CGM wear were 36.0 (2.7) years and 28.7 (5.5) kg/m 2 ; gestational age was 32.0 (2.0) weeks. Higher pTIR was associated with lower postpartum HbA1c ( n = 8, β = -0.06, p = 0.007). Other CGM metrics were not associated with HbA1c. There were no associations between CGM metrics and BP. Conclusion:Third-trimester CGM pTIR should be tested as a predictor of postpartum glycemia in a larger study.
Background: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. Materials and Methods: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 (≥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. Results: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 ≥5 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. Conclusion: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.
Objective: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. Study Design: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. Results: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. Conclusion:AAR provides a novel, effective, and reproducible mechanism for therapeutic debriefing and generating patient-centered opportunities to improve care within obstetrics.
Objective: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. Study Design: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. Results:The patient tolerated unfortified MOM but developed severe fussiness, abdominal distention, and increased stooling upon fortification with hypoallergenic formulas. These symptoms resolved within 24 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. Conclusion: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.
