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Important Limitations on the Conclusions of "Discrepant Results on Two Different Single Gene Noninvasive Prenatal Tests for Cystic Fibrosis: A Case Report". “囊性纤维化两种不同单基因无创产前检查结果差异:一例报告”结论的重要局限性。
IF 0.7
AJP Reports Pub Date : 2026-08-20 eCollection Date: 2026-07-01 DOI: 10.1055/a-2913-7060
Julia Wynn, Jennifer Hoskovec
{"title":"Important Limitations on the Conclusions of \"Discrepant Results on Two Different Single Gene Noninvasive Prenatal Tests for Cystic Fibrosis: A Case Report\".","authors":"Julia Wynn, Jennifer Hoskovec","doi":"10.1055/a-2913-7060","DOIUrl":"https://doi.org/10.1055/a-2913-7060","url":null,"abstract":"","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e152-e153"},"PeriodicalIF":0.7,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13493178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148787165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Feasibility and Temperature Stability of Low-Complexity Therapeutic Hypothermia for Neonatal Hypoxic-Ischemic Encephalopathy: A Retrospective Case Series. 低复杂性低温治疗新生儿缺氧缺血性脑病的可行性和温度稳定性:回顾性病例系列。
IF 0.7
AJP Reports Pub Date : 2026-08-14 eCollection Date: 2026-07-01 DOI: 10.1055/a-2924-5385
Milagros F Bermudez-Pelaez, Veronica F Rojas-Osorio, Cristian M Matos-Inocente, Marina A Bustamante-Ordoñez, Maria L Rospigliosi-Lopez
{"title":"Feasibility and Temperature Stability of Low-Complexity Therapeutic Hypothermia for Neonatal Hypoxic-Ischemic Encephalopathy: A Retrospective Case Series.","authors":"Milagros F Bermudez-Pelaez, Veronica F Rojas-Osorio, Cristian M Matos-Inocente, Marina A Bustamante-Ordoñez, Maria L Rospigliosi-Lopez","doi":"10.1055/a-2924-5385","DOIUrl":"https://doi.org/10.1055/a-2924-5385","url":null,"abstract":"<p><p><b>Objective</b> 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). <b>Study Design</b> 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. <b>Results</b> 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%. <b>Conclusion</b> 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.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e134-e140"},"PeriodicalIF":0.7,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13476106/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148759283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Barriers to Parental Engagement in NICU Infants with Congenital Anomalies: An Exploratory Pilot Study in Fetal Center Mother-Infant Dyads. 新生儿重症监护室先天性异常婴儿的父母参与障碍:胎儿中心母婴双体的探索性试点研究。
IF 0.7
AJP Reports Pub Date : 2026-08-11 eCollection Date: 2026-07-01 DOI: 10.1055/a-2920-8381
Jaclyn Ruggiero, Aditi Chunduru, Wen Li, Thomas Cunningham, Elisa Garcia, Alexandra Patch, Jerrie S Refuerzo, Allison Davidson
{"title":"Barriers to Parental Engagement in NICU Infants with Congenital Anomalies: An Exploratory Pilot Study in Fetal Center Mother-Infant Dyads.","authors":"Jaclyn Ruggiero, Aditi Chunduru, Wen Li, Thomas Cunningham, Elisa Garcia, Alexandra Patch, Jerrie S Refuerzo, Allison Davidson","doi":"10.1055/a-2920-8381","DOIUrl":"10.1055/a-2920-8381","url":null,"abstract":"<p><p><b>Objective</b> 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). <b>Study Design</b> 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. <b>Results</b> 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 ( <i>p</i> = 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 ( <i>p</i> = 0.016). Mothers prescribed psychotropic medications experienced longer delays to first visitation ( <i>p</i> = 0.046). Given the small sample size and exploratory design, findings should be interpreted cautiously. <b>Conclusion</b> 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.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e141-e147"},"PeriodicalIF":0.7,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148722428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Alignment between Published Performance Metrics and Clinical Reporting in sgNIPT: Implications from a Recent Case. 在sgipt中发表的绩效指标和临床报告之间的一致性:来自最近病例的启示。
IF 0.7
AJP Reports Pub Date : 2026-08-05 eCollection Date: 2026-07-01 DOI: 10.1055/a-2918-5666
Laura G Hendon
{"title":"Alignment between Published Performance Metrics and Clinical Reporting in sgNIPT: Implications from a Recent Case.","authors":"Laura G Hendon","doi":"10.1055/a-2918-5666","DOIUrl":"10.1055/a-2918-5666","url":null,"abstract":"","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e132-e133"},"PeriodicalIF":0.7,"publicationDate":"2026-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13441494/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148676840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early-Onset Neonatal Sepsis Caused by Globicatella sanguinis/sulfidifaciens : Case Report. 血弧菌/硫化物致早发型新生儿脓毒症1例报告
IF 0.7
AJP Reports Pub Date : 2026-07-31 eCollection Date: 2026-07-01 DOI: 10.1055/a-2913-6821
Fredrick Odhiambo Otieno, Rafael Fonseca, Lemuel Aigbibvalu
{"title":"Early-Onset Neonatal Sepsis Caused by <i>Globicatella sanguinis/sulfidifaciens</i> : Case Report.","authors":"Fredrick Odhiambo Otieno, Rafael Fonseca, Lemuel Aigbibvalu","doi":"10.1055/a-2913-6821","DOIUrl":"10.1055/a-2913-6821","url":null,"abstract":"<p><p><b>Background</b> <i>Globicatella sanguinis</i> 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. <b>Case Presentation</b> A term female neonate born at 39 <sup>3/7</sup> weeks 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 <i>Globicatella sanguinis/sulfidifaciens</i> within 12 hours, whereas cerebrospinal fluid culture remained sterile. Empiric ampicillin and gentamicin were initiated; repeat blood cultures were negative. Susceptibility testing yielded minimum inhibitory concentration 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. <b>Conclusion</b> This case highlights the diagnostic overlap between hemorrhagic shock and early-onset neonatal sepsis and emphasizes the management challenges posed by rare pathogens lacking standardized susceptibility criteria and evidence-based neonatal treatment recommendations.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e128-e131"},"PeriodicalIF":0.7,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13427387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148652939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cross-Sectional Survey of Obstetrical Providers' Knowledge, Attitudes, and Use of Noninvasive Prenatal Testing for 22q11.2 Deletion. 产科医生对22q11.2缺失的知识、态度和使用无创产前检测的横断面调查
IF 0.7
AJP Reports Pub Date : 2026-06-26 eCollection Date: 2026-04-01 DOI: 10.1055/a-2884-8604
Juliana Simon, James W Van Hook, Nabila Azeem, Madeline Allen, Hind N Moussa
{"title":"Cross-Sectional Survey of Obstetrical Providers' Knowledge, Attitudes, and Use of Noninvasive Prenatal Testing for 22q11.2 Deletion.","authors":"Juliana Simon, James W Van Hook, Nabila Azeem, Madeline Allen, Hind N Moussa","doi":"10.1055/a-2884-8604","DOIUrl":"10.1055/a-2884-8604","url":null,"abstract":"<p><p><b>Objective</b> This study's primary objective was to characterize obstetrical providers' knowledge and utilization of noninvasive prenatal testing (NIPT) for 22q11.2 deletion screening. <b>Study Design</b> 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. <b>Results</b> 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 ( <i>n</i> = 13) reported using expanded panels and screening for 22q11.2 deletion. Only half of our sample who completed the survey ( <i>n</i> = 10) felt adequately informed to counsel patients on screening results and procedures. <b>Conclusion</b> 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.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 2","pages":"e117-e122"},"PeriodicalIF":0.7,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13309258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148343767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Antenatal Testing Education: Assessing Health Education and Health Knowledge in a High-Risk Pregnant Population. 产前检查教育:评估高危妊娠人群的健康教育和健康知识。
IF 0.7
AJP Reports Pub Date : 2026-06-26 eCollection Date: 2026-04-01 DOI: 10.1055/a-2891-4451
Jessica Shaker, Marina Feffer, Abigail Winder, Mirelle M Dawoud, Jameela Media, Mary J Murphy, Hannah Pope, Ann K Lal
{"title":"Antenatal Testing Education: Assessing Health Education and Health Knowledge in a High-Risk Pregnant Population.","authors":"Jessica Shaker, Marina Feffer, Abigail Winder, Mirelle M Dawoud, Jameela Media, Mary J Murphy, Hannah Pope, Ann K Lal","doi":"10.1055/a-2891-4451","DOIUrl":"10.1055/a-2891-4451","url":null,"abstract":"<p><p><b>Objective</b> This study aimed to assess health knowledge and patient satisfaction in patients undergoing antenatal surveillance. <b>Study Design</b> 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. <b>Results</b> 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), <i>p</i> -value < 0.001. As education level increased, the total score increased significantly ( <i>p</i> -value < 0.001). No significant difference in total score was seen between varying racial groups nor between varying provider types. <b>Conclusion</b> 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.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 2","pages":"e123-e127"},"PeriodicalIF":0.7,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13309257/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148343727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Obligate Funic Presentation: A Case Report of Velamentous Cord Insertion in a Normally Implanted Placenta. 特异功能表现:1例正常植入胎盘的膜状脐带插入。
IF 0.7
AJP Reports Pub Date : 2026-06-24 eCollection Date: 2026-04-01 DOI: 10.1055/a-2848-3148
Amberly Lao, Gabrielle Shuman, Julia Kim, Erin Conroy, Martin Chavez, Patricia Rekawek
{"title":"Obligate Funic Presentation: A Case Report of Velamentous Cord Insertion in a Normally Implanted Placenta.","authors":"Amberly Lao, Gabrielle Shuman, Julia Kim, Erin Conroy, Martin Chavez, Patricia Rekawek","doi":"10.1055/a-2848-3148","DOIUrl":"10.1055/a-2848-3148","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 2","pages":"e114-e116"},"PeriodicalIF":0.7,"publicationDate":"2026-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13293635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148325388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Short-Term Outcomes in Neonates Born to Diabetic Mothers During the Coronavirus Disease 2019 Pandemic: A Descriptive Study. 2019冠状病毒病大流行期间糖尿病母亲所生新生儿的短期结局:一项描述性研究
IF 0.7
AJP Reports Pub Date : 2026-06-16 eCollection Date: 2026-04-01 DOI: 10.1055/a-2860-5934
Anfal Awwadh Alshalawi, Michael R Miller, Malack Turki Alotayan, Khalid Faisal Alkahtani, Adnan Hadid, Nada Alayed, Lana A Shaiba, Orlando Pereira Da Silva
{"title":"Short-Term Outcomes in Neonates Born to Diabetic Mothers During the Coronavirus Disease 2019 Pandemic: A Descriptive Study.","authors":"Anfal Awwadh Alshalawi, Michael R Miller, Malack Turki Alotayan, Khalid Faisal Alkahtani, Adnan Hadid, Nada Alayed, Lana A Shaiba, Orlando Pereira Da Silva","doi":"10.1055/a-2860-5934","DOIUrl":"10.1055/a-2860-5934","url":null,"abstract":"<p><p><b>Background</b> 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. <b>Methods</b> 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. <b>Results</b> 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. <b>Conclusion</b> 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.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 2","pages":"e109-e113"},"PeriodicalIF":0.7,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13286096/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148306565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Refractory Neonatal Apnea Revealing Congenital Central Hypoventilation Syndrome: Improved Outcome through Early Multidisciplinary Intervention. 难治性新生儿呼吸暂停揭示先天性中枢性低通气综合征:通过早期多学科干预改善预后。
IF 0.7
AJP Reports Pub Date : 2026-06-02 eCollection Date: 2026-04-01 DOI: 10.1055/a-2873-6868
Michal M Shalamov, Linsey R Cromwell, Pallabi Guha
{"title":"Refractory Neonatal Apnea Revealing Congenital Central Hypoventilation Syndrome: Improved Outcome through Early Multidisciplinary Intervention.","authors":"Michal M Shalamov, Linsey R Cromwell, Pallabi Guha","doi":"10.1055/a-2873-6868","DOIUrl":"10.1055/a-2873-6868","url":null,"abstract":"<p><p><b>Background:</b> 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 <i>PHOX2B</i> 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. <b>Case Presentation:</b> 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 <i>PHOX2B</i> 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.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 2","pages":"e105-e108"},"PeriodicalIF":0.7,"publicationDate":"2026-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13288275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148315299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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