Case Reports in Perinatal Medicine最新文献

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A new frame shift pathogenic variant (c.773dupT) in the BCKDHB gene caused MSUD in an infant from north of Iran. BCKDHB基因中一种新的框架移位致病变异(c.773dupT)在伊朗北部的一名婴儿中引起MSUD。
IF 0.2
Case Reports in Perinatal Medicine Pub Date : 2026-06-16 eCollection Date: 2026-01-01 DOI: 10.1515/crpm-2024-0052
Hossein Jalali, Daniel Zamanfar, Maryam Rahimi, Hossein Mokhtari, Fatemeh Ghorbani, Mohammad Reza Mahdavi
{"title":"A new frame shift pathogenic variant (c.773dupT) in the <i>BCKDHB</i> gene caused MSUD in an infant from north of Iran.","authors":"Hossein Jalali, Daniel Zamanfar, Maryam Rahimi, Hossein Mokhtari, Fatemeh Ghorbani, Mohammad Reza Mahdavi","doi":"10.1515/crpm-2024-0052","DOIUrl":"10.1515/crpm-2024-0052","url":null,"abstract":"<p><strong>Objectives: </strong>Inborn errors of metabolism (IEMs) result from pathogenic variants in genes involved in essential metabolic pathways. Newborn screening (NBS) using tandem mass spectrometry (MS/MS) has facilitated the early detection and diagnosis of IEMs, enabling timely medical intervention and improved clinical outcomes. This study introduces a novel pathogenic variant in the <i>BCKDHB</i> gene in a case of maple syrup urine disease (MSUD) diagnosed through the NBS program in northern Iran.</p><p><strong>Case presentation: </strong>Dried blood spot samples from newborns were analyzed using MS/MS (Shimadzu LCMS-8045, Japan), which identified a consanguineous case suspected of having MSUD. The confirmatory HPLC test revealed elevated levels of threonine, valine, isoleucine, and allo-isoleucine, indicating MSUD. Genetic analysis identified a homozygous frameshift variant, c.773dupT (NM_183050.4, p.Leu260ThrfsTer12), in exon 7 of the <i>BCKDHB</i> gene.</p><p><strong>Conclusions: </strong>The identification of novel pathogenic variants in MSUD patients, along with phenotype-genotype correlations, may predict the clinical severity of the variant and offer prognostic value, particularly for individuals with this specific variant.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"15 1","pages":"20240052"},"PeriodicalIF":0.2,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13271281/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148270547","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
Acute pulmonary edema secondary to magnesium sulfate tocolysis in twin pregnancy: a case report. 双胎妊娠硫酸镁溶产儿继发急性肺水肿1例。
IF 0.2
Case Reports in Perinatal Medicine Pub Date : 2026-06-01 eCollection Date: 2026-01-01 DOI: 10.1515/crpm-2025-0029
Xiaoling Liang, Jiaxin Kang, Bowen Zheng, Yicong Liao, Shiqing Wang, Guoliang Yan, Junxiang Jia
{"title":"Acute pulmonary edema secondary to magnesium sulfate tocolysis in twin pregnancy: a case report.","authors":"Xiaoling Liang, Jiaxin Kang, Bowen Zheng, Yicong Liao, Shiqing Wang, Guoliang Yan, Junxiang Jia","doi":"10.1515/crpm-2025-0029","DOIUrl":"10.1515/crpm-2025-0029","url":null,"abstract":"<p><strong>Objectives: </strong>Acute pulmonary edema during pregnancy is a rare but serious complication, particularly in association with magnesium sulfate therapy for tocolysis. This case report describes a 27-year-old woman with a twin pregnancy who developed acute pulmonary edema after 3 days of magnesium sulfate treatment.</p><p><strong>Case presentation: </strong>The patient presented with chest tightness, dyspnea, and respiratory distress. Immediate clinical intervention included discontinuation of magnesium sulfate and administration of furosemide to reduce cardiac preload. She was managed with diuretics, sedatives, and inotropic agents. Both infants were delivered successfully, and the patient recovered after supportive care in the intensive care unit.</p><p><strong>Conclusions: </strong>This case highlights the potential risks of fluid retention and the importance of monitoring maternal fluid status during tocolysis. It also emphasizes the need for vigilance in managing twin pregnancies with magnesium sulfate therapy to prevent serious complications such as pulmonary edema. Clinicians should be aware of this rare but potentially life-threatening complication and ensure that fluid balance is carefully monitored in such cases.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"15 1","pages":"20250029"},"PeriodicalIF":0.2,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13225067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148148633","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
Successful repair of spontaneous uterine rupture in the second trimester of pregnancy with progression to live birth. 成功修复自发性子宫破裂在妊娠中期进展到活产。
IF 0.2
Case Reports in Perinatal Medicine Pub Date : 2026-05-26 eCollection Date: 2026-01-01 DOI: 10.1515/crpm-2025-0025
Deniz Karçaaltıncaba, Hasan Hüseyin Uçkan
{"title":"Successful repair of spontaneous uterine rupture in the second trimester of pregnancy with progression to live birth.","authors":"Deniz Karçaaltıncaba, Hasan Hüseyin Uçkan","doi":"10.1515/crpm-2025-0025","DOIUrl":"10.1515/crpm-2025-0025","url":null,"abstract":"<p><strong>Objectives: </strong>Uterine rupture before the onset of labor is a rare but life-threatening obstetric emergency. This condition carries a high risk of maternal and fetal morbidity and mortality and requires prompt and careful management.</p><p><strong>Case presentation: </strong>A 26-year-old woman, gravida 3 and parity 2, was admitted to the gynecology department with complaints of abdominal pain in her 23rd week of pregnancy. During evaluation, a decrease in hemoglobin levels was noted, and abdominal MRI revealed uterine rupture. Uterine rupture was surgically repaired with a double-layer suture with fetal preservation. Following uterine repair, the pregnancy was successfully prolonged by more than 10 weeks and the patient delivered a healthy newborn at 33 weeks and 6 days.</p><p><strong>Conclusions: </strong>Early diagnosis and appropriate surgical intervention allowed the continuation of pregnancy and delivery at 33 weeks and 6 days resulting in favorable neonatal outcomes in this high-risk case. Uterine rupture in the mid-trimester increases the complexity of management, as traditional intervention strategies may need to be adapted to ensure both maternal and fetal safety. This case supports conservative surgical repair as a potential management option in carefully selected cases of mid-trimester uterine rupture.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"15 1","pages":"20250025"},"PeriodicalIF":0.2,"publicationDate":"2026-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13201098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148041242","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
Prenatally diagnosed rare giant congenital epulis: a case report. 产前诊断罕见的巨大先天性瞳孔1例。
IF 0.2
Case Reports in Perinatal Medicine Pub Date : 2026-05-25 eCollection Date: 2026-01-01 DOI: 10.1515/crpm-2026-0001
Greta Miškinaitė, Gabija Asipauskaitė, Gabija Gaidamavičienė, Eglė Machtejevienė, Valdas Šarauskas, Ilona Aldakauskienė
{"title":"Prenatally diagnosed rare giant congenital epulis: a case report.","authors":"Greta Miškinaitė, Gabija Asipauskaitė, Gabija Gaidamavičienė, Eglė Machtejevienė, Valdas Šarauskas, Ilona Aldakauskienė","doi":"10.1515/crpm-2026-0001","DOIUrl":"10.1515/crpm-2026-0001","url":null,"abstract":"<p><strong>Objectives: </strong>Congenital epulis (CE) is a rare benign tumour typically arising from the alveolar ridge and more frequently observed in female neonates. The report highlights its potential impact on neonatal breathing and feeding, emphasizing the importance of early recognition and management.</p><p><strong>Case presentation: </strong>We present a case of a female neonate with a giant CE detected on prenatal ultrasound. After the birth the lesion interfered with feeding, while respiratory function remained unaffected. Three masses were surgically dissected from the maxillary mucosa and the neonate successfully transitioned to oral feeding within the first week. Histopathological examination revealed a granular cell tumour with negative immunoreactivity for S100.</p><p><strong>Conclusions: </strong>The case underlines the significance of prenatal diagnosis, collaborative multidisciplinary planning, and, when indicated, the application of the EXIT procedure for congenital orofacial tumours with potential airway obstruction. Early recognition and integrated care can substantially improve neonatal prognosis.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"15 1","pages":"20260001"},"PeriodicalIF":0.2,"publicationDate":"2026-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197210/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148013815","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
Primary Hyper-aldosteronism in pregnancy: a case report with review of the literature. 妊娠期原发性高醛固酮增多症:一例报告并复习文献。
IF 0.2
Case Reports in Perinatal Medicine Pub Date : 2026-05-13 eCollection Date: 2026-01-01 DOI: 10.1515/crpm-2025-0028
Elie Hobeika, Dalia Malaeb, Dina Chamsy, Abdallah Adra, Nabil El Khoury, Anwar H Nassar
{"title":"Primary Hyper-aldosteronism in pregnancy: a case report with review of the literature.","authors":"Elie Hobeika, Dalia Malaeb, Dina Chamsy, Abdallah Adra, Nabil El Khoury, Anwar H Nassar","doi":"10.1515/crpm-2025-0028","DOIUrl":"10.1515/crpm-2025-0028","url":null,"abstract":"<p><strong>Objectives: </strong>Primary hyperaldosteronism can present during pregnancy. Due to its rarity and to the physiological changes occurring during pregnancy, diagnosis might be delayed with potential complications imposed on the mother and newborn.</p><p><strong>Case presentation: </strong>We report a 46-years-old middle eastern patient with chronic hypertension, who conceived with assisted reproductive technologies and was diagnosed with PA. She was referred back to cardiology for re-evaluation of her resistant hypertension. Serum electrolytes showed low potassium, high aldosterone, and high renin to aldosterone ratio. Magnetic resonance imaging of the adrenal glands revealed a unilateral nodule in the left adrenal gland. The patient was maintained on three antihypertensives; unfortunately, her pregnancy was complicated by intrauterine growth restriction and preterm delivery for preeclampsia with severe features.</p><p><strong>Conclusions: </strong>Primary hyperaldosteronism is a rare complication of pregnancy that is challenging to diagnose. However, timely and accurate diagnosis are essential to initiate appropriate treatment to ensure optimal fetal and maternal outcomes.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"15 1","pages":"20250028"},"PeriodicalIF":0.2,"publicationDate":"2026-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13168217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147940346","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
Fetal ductus arteriosus constriction following maternal analgesic exposure. 母体镇痛暴露后胎儿动脉导管收缩。
IF 0.2
Case Reports in Perinatal Medicine Pub Date : 2026-05-13 eCollection Date: 2026-01-01 DOI: 10.1515/crpm-2026-0002
Ayberk Çakır, Edis Kahraman, Deniz Gedik, Nefise Bengü Akgün, Mehmet Aytaç Yüksel
{"title":"Fetal ductus arteriosus constriction following maternal analgesic exposure.","authors":"Ayberk Çakır, Edis Kahraman, Deniz Gedik, Nefise Bengü Akgün, Mehmet Aytaç Yüksel","doi":"10.1515/crpm-2026-0002","DOIUrl":"10.1515/crpm-2026-0002","url":null,"abstract":"<p><strong>Objectives: </strong>Premature constriction of the fetal ductus arteriosus is a clinically relevant cause of fetal cardiac compromise. Maternal exposure to prostaglandin-inhibiting analgesics is a recognized trigger. We describe two pregnancies complicated by fetal ductus arteriosus constriction temporally associated with maternal analgesic use.</p><p><strong>Case presentation: </strong>In the first case, ductal constriction occurred after a seven-day course of indomethacin initiated at 28 weeks' gestation for polyhydramnios. Although initial improvement followed drug discontinuation, recurrent constriction with right ventricular dilation, severe tricuspid regurgitation, ductus venosus A-wave reversal, and a non-reactive fetal heart rate tracing indicated progressive hemodynamic compromise, prompting preterm delivery at 31+6 weeks. Postnatal echocardiography showed normalization of right ventricular function. In the second case, ductal constriction with right ventricular dilation and tricuspid regurgitation was detected at 38+5 weeks after frequent third-trimester use of a paracetamol-containing analgesic. Delivery at 39 weeks was performed primarily for prior uterine surgery, and postnatal evaluation confirmed normal pulmonary pressures and right ventricular function.</p><p><strong>Conclusions: </strong>Maternal exposure to prostaglandin-inhibiting analgesics should be considered in cases of fetal ductus arteriosus constriction. Careful medication history and targeted fetal echocardiography are essential for timely diagnosis and appropriate perinatal management.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"15 1","pages":"20260002"},"PeriodicalIF":0.2,"publicationDate":"2026-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13168553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147940400","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
Third trimester diagnosis of a compound heterozygous QARS1 mutation based upon microcephaly and abnormal placenta. 基于小头畸形和异常胎盘的复合杂合QARS1突变的妊娠晚期诊断。
IF 0.2
Case Reports in Perinatal Medicine Pub Date : 2025-12-11 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2025-0012
Max Hackelöer, Markus Vogt, Josefine Theresia Königbauer
{"title":"Third trimester diagnosis of a compound heterozygous QARS1 mutation based upon microcephaly and abnormal placenta.","authors":"Max Hackelöer, Markus Vogt, Josefine Theresia Königbauer","doi":"10.1515/crpm-2025-0012","DOIUrl":"10.1515/crpm-2025-0012","url":null,"abstract":"<p><strong>Objectives: </strong>This case aims to highlight the challenges healthcare providers and parents are faced with upon the emergence of fetal anomalies in the third trimester, emphasizing the pivotal role of trio exome sequencing in informed decision-making.</p><p><strong>Case presentation: </strong>A 39 year old women, Gravida II para I, was referred at 30 + 6 weeks of gestation for suspected fetal growth restriction, oligohydramnios, and abnormal placental features. Initial scans had revealed fetal head measurements and cerebellum in the lower normal range. Following further investigation via amniocentesis, fetal MRI, and trio exome sequencing, a compound heterozygous QARS1 mutation was identified. This gene is crucial for brain development. The MRI at 34 weeks confirmed microcephaly and abnormal gyration patterns corresponding to a development stage of 29 weeks. Genetic counseling was provided to the parents, who ultimately decided on late termination of the pregnancy at 34 + 5 weeks. The process was managed with medical support, ensuring psychosomatic and pastoral care for the parents.</p><p><strong>Conclusions: </strong>This case highlights the necessity for detailed and continuous prenatal assessments even amid initially mild fetal anomalies. The identification of the QARS1 mutation late in pregnancy underscores the potential impacts of rare genetic disorders on fetal development and necessitates comprehensive genetic counseling and ethical decision-making for parents and healthcare providers. This case emphasizes the critical role of advanced genetic testing in identifying conditions that significantly influence perinatal management and parental choices.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20250012"},"PeriodicalIF":0.2,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12698034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145755398","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
COVID-19 vaccine attitudes and news consumption patterns among pregnant and postpartum individuals in an urban setting. 城市孕妇和产后个体对COVID-19疫苗的态度和新闻消费模式
IF 0.2
Case Reports in Perinatal Medicine Pub Date : 2025-12-03 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2025-0005
Ivana Nikodijevic, Kareena Sagar, Angelica Fiuza, Tara Krishna, Ayana King, Kylie Getz, Damali Campbell
{"title":"COVID-19 vaccine attitudes and news consumption patterns among pregnant and postpartum individuals in an urban setting.","authors":"Ivana Nikodijevic, Kareena Sagar, Angelica Fiuza, Tara Krishna, Ayana King, Kylie Getz, Damali Campbell","doi":"10.1515/crpm-2025-0005","DOIUrl":"10.1515/crpm-2025-0005","url":null,"abstract":"<p><strong>Objectives: </strong>Pregnant individuals face increased COVID-19 symptom severity, yet vaccination rates remain low. The study aimed to identify strategies for improving vaccine adherence by examining pregnant individuals' attitudes toward the COVID-19 vaccine and their news consumption habits.</p><p><strong>Case presentation: </strong>A total of 58 pregnant and postpartum individuals were surveyed in the Obstetrics & Gynecology clinic at an urban academic medical center in Newark, NJ from June to December 2023. The 88-item survey assessed sociodemographic characteristics, vaccination status, pandemic-related risk perception, resource accessibility, and news sources. Sixty-six percent of participants reported receiving the COVID-19 vaccine. Vaccinated individuals were more likely to agree with pro-vaccine statements. Many respondents, regardless of vaccination status, selected \"neither agree nor disagree\" for anti-vaccine claims including those related to infertility or miscarriage. Participants who preferred traditional news sources (e.g. television broadcasts) were more likely to support pro-vaccine statements, while social media users expressed greater uncertainty.</p><p><strong>Conclusions: </strong>Concerns about the safety and efficacy of the COVID-19 vaccine were key in hesitancy among pregnant individuals, with social media contributing to this hesitancy. Our study highlights the need for holistic and effective communication from healthcare providers, evidence-based information across media platforms, and increased vaccine accessibility to improve vaccine adherence.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20250005"},"PeriodicalIF":0.2,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12671479/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145667264","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
The safety and effectiveness of ultrasound-guided instrumental removal of retained placenta after failed removal immediately after delivery. 产后立即超声引导器械切除胎盘失败后的安全性和有效性。
IF 0.2
Case Reports in Perinatal Medicine Pub Date : 2025-11-27 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2024-0051
Zhiyin Wang, Yan Zhou, Lu Wang, Xuecui Xu, Yali Hu, Yimin Dai
{"title":"The safety and effectiveness of ultrasound-guided instrumental removal of retained placenta after failed removal immediately after delivery.","authors":"Zhiyin Wang, Yan Zhou, Lu Wang, Xuecui Xu, Yali Hu, Yimin Dai","doi":"10.1515/crpm-2024-0051","DOIUrl":"10.1515/crpm-2024-0051","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the safety and effectiveness of ultrasound-guided instrumental removal of retained placenta.</p><p><strong>Case presentation: </strong>We presented a retrospective single-center cohort study include 54 patients diagnosed with retained placenta after delivery. The characteristics of the patients with retained placenta, who received ultrasound-guided instrumental removal, were evaluated. We also compared the characteristics between the patients with retained placenta with and without suspected placenta accrete.</p><p><strong>Conclusion: </strong>Curettage should be performed in retained placenta without suspected placenta accrete. In retained placenta with suspected placenta accrete, we could also perform ultrasound-guided instrumental removal therapy if the retained placenta was not in the lower uterine segment or in previous scars.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20240051"},"PeriodicalIF":0.2,"publicationDate":"2025-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12658471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647482","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
Neurobehavioral assessment of a syndromic Dandy-Walker malformation using 4D ultrasound and KANET: a case report. 应用四维超声和KANET评价综合征型Dandy-Walker畸形的神经行为:1例报告。
IF 0.2
Case Reports in Perinatal Medicine Pub Date : 2025-09-23 eCollection Date: 2025-01-01 DOI: 10.1515/crpm-2025-0008
Wiku Andonotopo, Muhammad Adrianes Bachnas, Julian Dewantiningrum, Mochammad Besari Adi Pramono, Milan Stanojević, Asim Kurjak
{"title":"Neurobehavioral assessment of a syndromic Dandy-Walker malformation using 4D ultrasound and KANET: a case report.","authors":"Wiku Andonotopo, Muhammad Adrianes Bachnas, Julian Dewantiningrum, Mochammad Besari Adi Pramono, Milan Stanojević, Asim Kurjak","doi":"10.1515/crpm-2025-0008","DOIUrl":"10.1515/crpm-2025-0008","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate fetal neurobehavior using the Kurjak Antenatal Neurodevelopmental Test (KANET) via 4D ultrasound in a fetus diagnosed with syndromic Dandy-Walker Malformation (DWM), and to correlate these findings with postnatal outcomes.</p><p><strong>Case presentation: </strong>A 35-year-old woman was referred at 25 weeks' gestation for evaluation of multiple fetal anomalies. Ultrasound revealed hallmark DWM features - cerebellar vermis hypoplasia, enlarged posterior fossa, hydrocephalus - as well as extracranial anomalies including craniofacial dysmorphism, bilateral clubhands and clubfeet, and suspected hypoplastic left heart syndrome. A KANET assessment at 25+3 weeks yielded a severely abnormal score of 3. At 26 weeks, a male infant was delivered and survived 2 h postnatally. All anomalies were confirmed postnatally.</p><p><strong>Conclusions: </strong>KANET, even when performed slightly earlier than standard timing, provided critical insights into the fetus's neurobehavioral function and correlated strongly with the fatal outcome. This case supports the value of KANET as a non-invasive tool for assessing neurological integrity in complex fetal conditions where third-trimester evaluation may not be possible.</p>","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"14 1","pages":"20250008"},"PeriodicalIF":0.2,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12455929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145136732","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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