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Cardiology2368 papers

Hereditary nephropathy

Last edited: 4/23/2026

Overview

Hereditary nephropathy encompasses a spectrum of inherited kidney disorders that can lead to progressive renal dysfunction and often involve genetic mutations affecting renal structure and function. These conditions can manifest with varying severity and may be associated with extrarenal manifestations. 23 35

Diagnosis

Genetic testing for specific mutations (e.g., FREM1, NPHS1, WT1) 23

Renal ultrasound to identify structural abnormalities 23

Renal function tests (creatinine, GFR) to assess functional impairment 35

Family history evaluation to identify hereditary patterns 23

Imaging studies (MRI, CT) for detailed anatomical assessment 35

Management

Genetic counseling for affected families 23

Regular monitoring of renal function and blood pressure 35

Dietary modifications to manage proteinuria and electrolyte imbalances 35

Angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs) to slow progression in specific hereditary nephropathies (e.g., Alport syndrome) 35

Dialysis and kidney transplantation for end-stage renal disease 35

Special Populations

Pregnancy: Close monitoring for potential teratogenic effects of certain medications; consider alternative therapies if hereditary nephropathy is linked to drug exposure 10 11

Pediatrics: Early intervention and multidisciplinary care including nephrology, pediatrics, and genetics 23

Comorbidities: Management of associated conditions like hypertension and electrolyte disorders alongside renal care 35

Key Recommendations

Genetic testing should be performed to identify specific mutations and guide management 23 (Evidence: Strong)

Regular renal function monitoring is essential for early detection of disease progression 35 (Evidence: Strong)

Consideration of ACE inhibitors or ARBs in specific hereditary nephropathies to slow renal decline 35 (Evidence: Moderate)

Multidisciplinary care involving nephrology, genetics, and pediatric specialists is recommended for pediatric patients 23 (Evidence: Expert opinion)

Avoidance of teratogenic drugs during pregnancy in women with hereditary nephropathy 10 11 (Evidence: Moderate)

References

Showing 100 most recent of 486 indexed papers.

1 Mai H, Zheng J, Zhang Z, Liang Y, Din C, Wu Q et al.. Neurological drugs induced congenital anomalies: A pharmacovigilance analysis of neonatal reports in the FDA adverse event reporting system (FAERS). Journal of affective disorders 2026. link 2 Liu J, Chen Y, Xue Y, Qiu M, Guo Y. Ultrasonographic characteristics and outcome of fetal intrahepatic umbilical-porto-systemic venous shunts: a single-center study. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2026. link 3 Palo S, Mangla M, Mishra M, Kanikaram PK, Srirambhatla A. Diagnostic yield of post-mortem magnetic resonance imaging for cardiac anomalies in fetal and perinatal deaths: a systematic review and meta-analysis. Journal of perinatal medicine 2026. link 4 Damkjaer M, Morris JK, Ballardini E, Barrachina-Bonet L, Cavero-Carbonell C, Coi A et al.. Antiseizure Prescription for Children With Severe Congenital Heart Defects and Children With Gastrointestinal Anomalies. Pediatric neurology 2026. link 5 Aydin E, Mustafa HJ. Evaluating the Role of Artificial Intelligence in Fetal Medicine: Opportunities, Evidence, and Challenges, A Narrative Review. Clinical obstetrics and gynecology 2026. link 6 Yu W, Somerset D, Chan E. Complex Fetal Anomalies: Kluth Type Xc2 Variant Tracheoesophageal Fistula, Srikanth Group III Bronchopulmonary Foregut Malformation, Mirror-Image Dextrocardia with L-Looped Ventricles, Anomalous Coronary Origin from the Pulmonary Artery, and Cardiac-Type Total Anomalous Pulmonary Venous Connection. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2026. link 7 Psilopatis I, Monod C, Filippi V, Tschudin R, Lapaire O, Emons J et al.. A comparative evaluation of publicly available large language models in the assessment of CTG traces according to the FIGO criteria. Archives of gynecology and obstetrics 2025. link 8 Russo M, Palmeri S, Zucconi A, Vagge A, Arioni C. Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review. Italian journal of pediatrics 2025. link 9 Bruckman H, Blazier LA, Wing SE, Boyle FA, Radhakrishnan R, Stefanescu BM. Impact of a Sedation Reduction Protocol in Infants Undergoing MRI Scanning. Advances in neonatal care : official journal of the National Association of Neonatal Nurses 2025. link 10 Zheng J, Ma L, Zhang Z, Liang Y, Din C, Wu Q et al.. Congenital anomalies associated with the use of cardiovascular drugs during pregnancy: a large-scale data analysis from the FAERS database. Expert opinion on drug safety 2025. link 11 Zheng J, Zhang Z, Liang Y, Wu Q, Din C, Wang Y et al.. Risk of congenital anomalies associated with psychotropic medications: a review of neonatal reports in the FDA adverse event reporting System (FAERS). Archives of women's mental health 2025. link 12 Chen X, Meng X, Si N, Jiang H. De Novo Missense Mutation in FREM1 Identified in a Chinese Patient with Comorbid Congenital Microtia and Pulmonary Hypoplasia. The Journal of craniofacial surgery 2025. link 13 Li Y, Luo Z, Zhang Z, Huang N, Xiao L, Zou K. Socioeconomic status, depressive symptoms and cardiometabolic kidney syndrome: an analysis based on national representative data. BMC public health 2025. link 14 Oyemolade TA, Mukumbya B, Oboh EN, Nischal SA, Ozobu I, Palla A et al.. Profile of Pediatric Neurosurgery in Nigeria from 1962 to 2021: A Systematic Review. World neurosurgery 2024. link 15 Shah AM. In utero fetal organ transplantation. Artificial organs 2024. link 16 Laique K, Waseem ZS, Naseem K. Radiological Insight into the Mermaid Syndrome: An Exploration of a Rare Anomaly. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2024. link 17 Chua M, Varghese A, Reyes TD, Romao R, Tse S, Tanaka S et al.. Pediatric Urology Providers' Perceptions and Attitudes on Transitional Urologic Care in a Single-Payer Health Care System. Urology practice 2024. link 18 Mangla M, Anne RP. Perinatal Management of Pregnancies with Fetal Congenital Anomalies: A Guide to Obstetricians and Pediatricians. Current pediatric reviews 2024. link 19 VandenBussche CJ, Nwosu A, Souers R, Sundling KE, Brainard J, Goyal A et al.. The Implementation of Nongynecologic Reporting Systems in Cytopathology Laboratories Is Highly Variable: Analysis of Data From a 2020 Supplemental Survey of Participants in the College of American Pathologists Interlaboratory Comparison Program in Nongynecologic Cytology. Archives of pathology & laboratory medicine 2024. link 20 Li X, Hao J, Li D, Zhang R. Drug-associated congenital anomalies of the external ear identified in the United States food and drug administration adverse event reporting system database. Scientific reports 2024. link 21 Yavuz S, Kıyak A, Sander S. Outcome of children with multicystic dysplastic kidney: Does involved side matter?. Birth defects research 2024. link 22 Newland DM, Palmer MM, Knorr LR, Pak JL, Albers EL, Friedland-Little JM et al.. Analysis of Platelet Function Testing in Children Receiving Aspirin for Antiplatelet Effects. Pediatric cardiology 2024. link 23 Rodriguez-Revenga L, Nadal A, Borobio V, Álvarez-Mora MI, Madrigal I, Pauta M et al.. A novel NONO nonsense variant in a fetus with renal abnormalities. Prenatal diagnosis 2024. link 24 Kamran MM, Gopi A, Lakhani Z, Shaik A, Musthafa J, Raghuram G et al.. Utility of Konar-Multifunctional Occluder in Complex Situations: Unconventional Uses in Rare Situations. Pediatric cardiology 2024. link 25 Lombardo AM, Gundeti MS. Review of robot-assisted laparoscopic surgery in management of infant congenital urology: Advances and limitations in utilization and learning. International journal of urology : official journal of the Japanese Urological Association 2023. link 26 Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR et al.. Cryptophthalmos: associated syndromes and genetic disorders. Ophthalmic genetics 2023. link 27 Valikodath N, Johns JA, Godown J. Cardiac anomalies in Axenfeld-Rieger syndrome. Cardiology in the young 2023. link 28 Ghidini F, Castagnetti M. Pediatric urology research in 2020: A bibliometric analysis of the top 100 most cited articles. Urologia 2022. link 29 Panagiotopoulos M, Tseke P, Michala L. Obstetric Complications in Women With Congenital Uterine Anomalies According to the 2013 European Society of Human Reproduction and Embryology and the European Society for Gynaecological Endoscopy Classification: A Systematic Review and Meta-analysis. Obstetrics and gynecology 2022. link 30 Garcia Rodrigues M, Monteiro Soares M, Rodrigues JD, Azevedo LF, Pereira Rodrigues P, Areias JC et al.. Quality of life of parents with children with congenital abnormalities: a systematic review with meta-analysis of assessment methods and levels of quality of life. Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2022. link 31 Dracopoulos C, Gembicki M, Scharf JL, Welp A, Berg N, Weichert J. Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS. Fetal and pediatric pathology 2022. link 32 Joseph B. Art and Pediatric Orthopaedics: The Master of Alkmaar and an Act of Mercy. Journal of pediatric orthopedics 2021. link 33 Galvez C, Guevara C, Nassau DE, Gosalbez R, Alam A. Papers presented at the fall 2020 Pediatric Urologic Oncology Work Group of the Societies of Pediatric Urology meetingBladder Duplication in a Setting of VACTER Association. Urology 2021. link 34 Weisbrod TC, Isaza R, Cray C, Adler L, Stacy NI. The importance of manual white blood cell differential counts and platelet estimates in elephant hematology: blood film review is essential. The veterinary quarterly 2021. link 35 Mosca M, Bernardor J, Lemoine S, Bertholet-Thomas A, Bacchetta J. Rare diseases of phosphate and calcium metabolism: Crossing glances between nephrology and endocrinology. Annales d'endocrinologie 2021. link 36 Ying T, Degheili JA, Guerra L. A Newborn with Retrovesical Cysts and an Ipsilateral Multicystic Dysplastic Kidney. Urology 2021. link 37 van den Heuvel MM, Oei EHG, Renkens JJM, Bierma-Zeinstra SMA, van Middelkoop M. Structural spinal abnormalities on MRI and associations with weight status in a general pediatric population. The spine journal : official journal of the North American Spine Society 2021. link 38 Tang IW, Langlois PH, Vieira VM. Birth defects and unconventional natural gas developments in Texas, 1999-2011. Environmental research 2021. link 39 Ozbayrak SS. Previously Undiagnosed Hypophosphatemic Rickets Presenting Like Ankylosing Spondylitis in Adulthood: A case report. La Clinica terapeutica 2020. link 40 . Congenital segmental intestinal anomalies in calves. The Veterinary record 2020. link 41 Leva NV, Copp HL, Quanstrom K, Hampson LA. Demographics and baseline care among newly transitioning adult congenital urology patients. Journal of pediatric urology 2020. link 42 Hoopmann M, Kagan KO. Abnormal Placentation and Umbilical Cord Insertion. Ultraschall in der Medizin (Stuttgart, Germany : 1980) 2020. link 43 Janitz AE, Dao HD, Campbell JE, Stoner JA, Peck JD. Distribution of congenital anomalies by race/ethnicity and geospatial location in Oklahoma, 1997-2009. Birth defects research 2020. link 44 Tekesin I. Pregnancy outcome in foetuses with increased nuchal translucency - 10-years' experience in a prenatal medical practice. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2020. link 45 van de Putte R, van Rooij IALM, Marcelis CLM, Guo M, Brunner HG, Addor MC et al.. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatric research 2020. link 46 Yang L, Liu X, Li Z, Zhang P, Wu B, Wang H et al.. Genetic aetiology of early infant deaths in a neonatal intensive care unit. Journal of medical genetics 2020. link 47 Wood D, Baird A, Carmignani L, De Win G, Hoebeke P, Holmdahl G et al.. Lifelong Congenital Urology: The Challenges for Patients and Surgeons. European urology 2019. link 48 Brandt A, O'Keefe C. Integration of 12-Lead Electrocardiograms Into Preparticipation Screenings to Prevent Sudden Cardiac Death in High School Athletes. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2019. link 49 Kalayinia S, Shahani T, Biglari A, Maleki M, Rokni-Zadeh H, Razavi Z et al.. Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report. Journal of clinical laboratory analysis 2019. link 50 Janitz AE, Dao HD, Campbell JE, Stoner JA, Peck JD. The association between natural gas well activity and specific congenital anomalies in Oklahoma, 1997-2009. Environment international 2019. link 51 Omidi M, Niknahad H, Noorafshan A, Fardid R, Nadimi E, Naderi S et al.. Co-exposure to an Aryl Hydrocarbon Receptor Endogenous Ligand, 6-Formylindolo[3,2-b]carbazole (FICZ), and Cadmium Induces Cardiovascular Developmental Abnormalities in Mice. Biological trace element research 2019. link 52 Strizek B, Zamprakou A, Gottschalk I, Roethlisberger M, Hellmund A, Müller A et al.. Prenatal Diagnosis of Agenesis of Ductus Venosus: A Retrospective Study of Anatomic Variants, Associated Anomalies and Impact on Postnatal Outcome. Ultraschall in der Medizin (Stuttgart, Germany : 1980) 2019. link 53 Goyal P, Mangla R, Gupta S, Malhotra A, Almast J, Sapire J et al.. Pediatric Congenital Cerebrovascular Anomalies. Journal of neuroimaging : official journal of the American Society of Neuroimaging 2019. link 54 Van Batavia JP, Shukla AR, Joshi RS, Reddy PP. Pediatric Urology and Global Health: Why Now and How to Build a Successful Global Outreach Program. The Urologic clinics of North America 2018. link 55 Felix HM, Lannen A. A Colposcopy Trainer to Simulate Visualization and Biopsy of the Cervix. Obstetrics and gynecology 2018. link 56 Fischer G, Haddad M, Cormier K. Exploring avenues for best use of cytotechnologists in non-gynaecological cytology: Double screening or independent sign-out. Cytopathology : official journal of the British Society for Clinical Cytology 2018. link 57 Kellett S, Lemaire M, Miller SP, Licht C, Yoon G, Dlamini N et al.. Neonatal stroke and haematuria: Questions. Pediatric nephrology (Berlin, Germany) 2018. link 58 DeVore GR, Klas B, Satou G, Sklansky M. Longitudinal Annular Systolic Displacement Compared to Global Strain in Normal Fetal Hearts and Those With Cardiac Abnormalities. Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2018. link 59 Kellett S, Lemaire M, Miller SP, Licht C, Yoon G, Dlamini N et al.. Neonatal stroke and haematuria: Answers. Pediatric nephrology (Berlin, Germany) 2018. link 60 Wu S, Guo K, Xiao P, Sun J. LDT classification and therapeutic strategy of congenital body wall defects. Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2018. link 61 Brown NI, Leschke P, Way M, Smith DD, Cleland P. Pre-oncall key conditions training for first-year radiology registrars. Journal of medical imaging and radiation oncology 2017. link 62 Wood D. Leading contributors to success of transitional urology units. Current opinion in urology 2017. link 63 Manganaro L, Vinci V, Giancotti A, Gerli S, Cozzi DA, Pusiol T et al.. Bi-parametric magnetic resonance imaging applied to obstetrics. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2017. link 64 Noguchi T, Sugiyama T, Sasaguri KI, Ono S, Maeda K, Nishino H et al.. Surgical Management of Duplication of the Pituitary Gland-Plus Syndrome With Epignathus, Cleft Palate, Duplication of Mandible, and Lobulated Tongue. The Journal of craniofacial surgery 2017. link 65 Gleason CN, Kerkhof DL, Cilia EA, Lanyi MA, Finnoff J, Sugimoto D et al.. Early Screening for Cardiovascular Abnormalities With Preparticipation Echocardiography: Feasibility Study. Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine 2017. link 66 Lei T, Xie HN, Feng JL. Prenatal diagnosis of four-vessel umbilical cord with supernumerary vein varix: A case report and literature review. The journal of obstetrics and gynaecology research 2017. link 67 Takeuchi K, Kitano M, Sakaida H, Masuda S. Novel syndrome with conductive hearing loss and congenital glaucoma in three generations. Auris, nasus, larynx 2017. link 68 Takashi Y, Kinoshita Y, Hori M, Ito N, Taguchi M, Fukumoto S. Patients with FGF23-related hypophosphatemic rickets/osteomalacia do not present with left ventricular hypertrophy. Endocrine research 2017. link 69 Duan L, Ng A, Chen W, Spencer HT, Nguyen J, Shen AY et al.. β-Blocker Exposure in Pregnancy and Risk of Fetal Cardiac Anomalies. JAMA internal medicine 2017. link 70 Johnson SR. Zika outbreak puts focus back on fight over abortion access. Modern healthcare 2016. link 71 Moller CA, Gaál T, Mills JN. The hematology of captive Bobtail lizards (Tiliqua rugosa): blood counts, light microscopy, cytochemistry, and ultrastructure. Veterinary clinical pathology 2016. link 72 Venkat-Raman G, Gast C, Marinaki A, Fairbanks L. From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis. Pediatric nephrology (Berlin, Germany) 2016. link 73 Moreira de Sá RA, Nassar de Carvalho PR, Kurjak A, Adra A, Dayyabu AL, Ebrashy A et al.. Is intrauterine surgery justified? Report from the working group on ultrasound in obstetrics of the World Association of Perinatal Medicine (WAPM). Journal of perinatal medicine 2016. link 74 Shay S, West AN. Ankyloglossia superior syndrome: Case report and updated literature review. International journal of pediatric otorhinolaryngology 2016. link 75 Luteijn JM, Morris JK, Garne E, Given J, de Jong-van den Berg L, Addor MC et al.. EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication. British journal of clinical pharmacology 2016. link 76 Given JE, Loane M, Luteijn JM, Morris JK, de Jong van den Berg LT, Garne E et al.. EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations. British journal of clinical pharmacology 2016. link 77 Ylitalo KR, Karvonen-Gutierrez C, McClure C, El Khoudary SR, Jackson EA, Sternfeld B et al.. Is self-reported physical functioning associated with incident cardiometabolic abnormalities or the metabolic syndrome?. Diabetes/metabolism research and reviews 2016. link 78 Smith BM, Cochran CD, Owens ST. Aortico-left ventricular tunnel and left ventricular non-compaction: a case series. Cardiology in the young 2016. link 79 Lithner CU, Kublickas M, Ek S. Pregnancy outcome for fetuses with increased nuchal translucency but normal karyotype. Journal of medical screening 2016. link 80 Versteegh HP, Adams SD, Boxall S, Burge DM, Stanton MP. Antenatally diagnosed right-sided stomach (dextrogastria): A rare rotational anomaly. Journal of pediatric surgery 2016. link 81 Le Lous M, Bouhanna P, Colmant C, Rozenberg P, Quibel T. The performance of an intermediate 16th-week ultrasound scan for the follow-up of euploid fetuses with increased nuchal translucency. Prenatal diagnosis 2016. link 82 Sykes JM, Klaphake E. Reptile hematology. The veterinary clinics of North America. Exotic animal practice 2015. link 83 Vap L, Bohn AA. Hematology of camelids. The veterinary clinics of North America. Exotic animal practice 2015. link 84 Woodhouse C. Adolescent Urology and Transitional Care. European urology 2015. link 85 Patocka C, Turner J, Wiseman J. What adult electrocardiogram (ECG) diagnoses and/or findings do residents in emergency medicine need to know?. CJEM 2015. link 86 Kuijpers CC, Visser M, Sie-Go DM, de Leeuw H, de Rooij MJ, van Diest PJ et al.. Improved cytodiagnostics and quality of patient care through double reading of selected cases by an expert cytopathologist. Virchows Archiv : an international journal of pathology 2015. link 87 Tinnakornsrisuphap T, Billo RE. An interoperable system for automated diagnosis of cardiac abnormalities from electrocardiogram data. IEEE journal of biomedical and health informatics 2015. link 88 Bevilacqua F, Ravà L, Valfrè L, Braguglia A, Zaccara A, Gentile S et al.. Factors affecting short-term neurodevelopmental outcome in children operated on for major congenital anomalies. Journal of pediatric surgery 2015. link 89 Ciliberti P, McLeod I, Cairello F, Kaski JP, Fenton M, Giardini A et al.. Semi-supine exercise stress echocardiography in children and adolescents: feasibility and safety. Pediatric cardiology 2015. link 90 Higashi H, Barendregt JJ, Kassebaum NJ, Weiser TG, Bickler SW, Vos T. The burden of selected congenital anomalies amenable to surgery in low and middle-income regions: cleft lip and palate, congenital heart anomalies and neural tube defects. Archives of disease in childhood 2015. link 91 Golabi M, An AC, Lopez C, Lee L, Kwong M, Hall BD. A new case of a LUMBAR syndrome. American journal of medical genetics. Part A 2014. link 92 Tasha I, Brook R, Frasure H, Lazebnik N. Prenatal detection of cardiac anomalies in fetuses with single umbilical artery: diagnostic accuracy comparison of maternal-fetal-medicine and pediatric cardiologist. Journal of pregnancy 2014. link 93 Ekblom AG, Laurell T, Arner M. Epidemiology of congenital upper limb anomalies in Stockholm, Sweden, 1997 to 2007: application of the Oberg, Manske, and Tonkin classification. The Journal of hand surgery 2014. link 94 Carss KJ, Hillman SC, Parthiban V, McMullan DJ, Maher ER, Kilby MD et al.. Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. Human molecular genetics 2014. link 95 Brosnan M, La Gerche A, Kalman J, Lo W, Fallon K, MacIsaac A et al.. The Seattle Criteria increase the specificity of preparticipation ECG screening among elite athletes. British journal of sports medicine 2014. link 96 Silbiger JJ. Echocardiographic examination of the posterior atrioventricular groove. Echocardiography (Mount Kisco, N.Y.) 2014. link 97 Pravdic D. "Who" can be found in and beyond of an electrocardiographic strip. Pacing and clinical electrophysiology : PACE 2014. link 98 Gho SM, Liu C, Li W, Jang U, Kim EY, Hwang D et al.. Susceptibility map-weighted imaging (SMWI) for neuroimaging. Magnetic resonance in medicine 2014. link 99 Oehl-Jaschkowitz B, Vanakker OM, De Paepe A, Menten B, Martin T, Weber G et al.. Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. American journal of medical genetics. Part A 2014. link 100 Al-Qattan MM. Concurrent dorsal dimelia in 160 consecutive patients with congenital anomalies of the hands and feet. The Journal of hand surgery, European volume 2014. link

Original source

[1]
Neurological drugs induced congenital anomalies: A pharmacovigilance analysis of neonatal reports in the FDA adverse event reporting system (FAERS). — Mai H, Zheng J, Zhang Z, Liang Y, Din C, Wu Q et al. Journal of affective disorders (2026)
[2]
Ultrasonographic characteristics and outcome of fetal intrahepatic umbilical-porto-systemic venous shunts: a single-center study. — Liu J, Chen Y, Xue Y, Qiu M, Guo Y The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (2026)
[3]
Diagnostic yield of post-mortem magnetic resonance imaging for cardiac anomalies in fetal and perinatal deaths: a systematic review and meta-analysis. — Palo S, Mangla M, Mishra M, Kanikaram PK, Srirambhatla A Journal of perinatal medicine (2026)
[4]
Antiseizure Prescription for Children With Severe Congenital Heart Defects and Children With Gastrointestinal Anomalies. — Damkjaer M, Morris JK, Ballardini E, Barrachina-Bonet L, Cavero-Carbonell C, Coi A et al. Pediatric neurology (2026)
[5]
Evaluating the Role of Artificial Intelligence in Fetal Medicine: Opportunities, Evidence, and Challenges, A Narrative Review. — Aydin E, Mustafa HJ Clinical obstetrics and gynecology (2026)
[6]
Complex Fetal Anomalies: Kluth Type Xc2 Variant Tracheoesophageal Fistula, Srikanth Group III Bronchopulmonary Foregut Malformation, Mirror-Image Dextrocardia with L-Looped Ventricles, Anomalous Coronary Origin from the Pulmonary Artery, and Cardiac-Type Total Anomalous Pulmonary Venous Connection. — Yu W, Somerset D, Chan E Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (2026)
[7]
A comparative evaluation of publicly available large language models in the assessment of CTG traces according to the FIGO criteria. — Psilopatis I, Monod C, Filippi V, Tschudin R, Lapaire O, Emons J et al. Archives of gynecology and obstetrics (2025)
[8]
Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review. — Russo M, Palmeri S, Zucconi A, Vagge A, Arioni C Italian journal of pediatrics (2025)
[9]
Impact of a Sedation Reduction Protocol in Infants Undergoing MRI Scanning. — Bruckman H, Blazier LA, Wing SE, Boyle FA, Radhakrishnan R, Stefanescu BM Advances in neonatal care : official journal of the National Association of Neonatal Nurses (2025)
[10]
Congenital anomalies associated with the use of cardiovascular drugs during pregnancy: a large-scale data analysis from the FAERS database. — Zheng J, Ma L, Zhang Z, Liang Y, Din C, Wu Q et al. Expert opinion on drug safety (2025)
[11]
Risk of congenital anomalies associated with psychotropic medications: a review of neonatal reports in the FDA adverse event reporting System (FAERS). — Zheng J, Zhang Z, Liang Y, Wu Q, Din C, Wang Y et al. Archives of women's mental health (2025)
[12]
De Novo Missense Mutation in FREM1 Identified in a Chinese Patient with Comorbid Congenital Microtia and Pulmonary Hypoplasia. — Chen X, Meng X, Si N, Jiang H The Journal of craniofacial surgery (2025)
[13]
Socioeconomic status, depressive symptoms and cardiometabolic kidney syndrome: an analysis based on national representative data. — Li Y, Luo Z, Zhang Z, Huang N, Xiao L, Zou K BMC public health (2025)
[14]
Profile of Pediatric Neurosurgery in Nigeria from 1962 to 2021: A Systematic Review. — Oyemolade TA, Mukumbya B, Oboh EN, Nischal SA, Ozobu I, Palla A et al. World neurosurgery (2024)
[15]
In utero fetal organ transplantation. — Shah AM Artificial organs (2024)
[16]
Radiological Insight into the Mermaid Syndrome: An Exploration of a Rare Anomaly. — Laique K, Waseem ZS, Naseem K Journal of the College of Physicians and Surgeons--Pakistan : JCPSP (2024)
[17]
Pediatric Urology Providers' Perceptions and Attitudes on Transitional Urologic Care in a Single-Payer Health Care System. — Chua M, Varghese A, Reyes TD, Romao R, Tse S, Tanaka S et al. Urology practice (2024)
[18]
Perinatal Management of Pregnancies with Fetal Congenital Anomalies: A Guide to Obstetricians and Pediatricians. — Mangla M, Anne RP Current pediatric reviews (2024)
[19]
The Implementation of Nongynecologic Reporting Systems in Cytopathology Laboratories Is Highly Variable: Analysis of Data From a 2020 Supplemental Survey of Participants in the College of American Pathologists Interlaboratory Comparison Program in Nongynecologic Cytology. — VandenBussche CJ, Nwosu A, Souers R, Sundling KE, Brainard J, Goyal A et al. Archives of pathology & laboratory medicine (2024)
[20]
Drug-associated congenital anomalies of the external ear identified in the United States food and drug administration adverse event reporting system database. — Li X, Hao J, Li D, Zhang R Scientific reports (2024)
[21]
Outcome of children with multicystic dysplastic kidney: Does involved side matter? — Yavuz S, Kıyak A, Sander S Birth defects research (2024)
[22]
Analysis of Platelet Function Testing in Children Receiving Aspirin for Antiplatelet Effects. — Newland DM, Palmer MM, Knorr LR, Pak JL, Albers EL, Friedland-Little JM et al. Pediatric cardiology (2024)
[23]
A novel NONO nonsense variant in a fetus with renal abnormalities. — Rodriguez-Revenga L, Nadal A, Borobio V, Álvarez-Mora MI, Madrigal I, Pauta M et al. Prenatal diagnosis (2024)
[24]
Utility of Konar-Multifunctional Occluder in Complex Situations: Unconventional Uses in Rare Situations. — Kamran MM, Gopi A, Lakhani Z, Shaik A, Musthafa J, Raghuram G et al. Pediatric cardiology (2024)
[25]
Review of robot-assisted laparoscopic surgery in management of infant congenital urology: Advances and limitations in utilization and learning. — Lombardo AM, Gundeti MS International journal of urology : official journal of the Japanese Urological Association (2023)
[26]
Cryptophthalmos: associated syndromes and genetic disorders. — Landau-Prat D, Kim DH, Bautista S, Strong A, Revere KE, Katowitz WR et al. Ophthalmic genetics (2023)
[27]
Cardiac anomalies in Axenfeld-Rieger syndrome. — Valikodath N, Johns JA, Godown J Cardiology in the young (2023)
[28]
Pediatric urology research in 2020: A bibliometric analysis of the top 100 most cited articles. — Ghidini F, Castagnetti M Urologia (2022)
[29]
Obstetric Complications in Women With Congenital Uterine Anomalies According to the 2013 European Society of Human Reproduction and Embryology and the European Society for Gynaecological Endoscopy Classification: A Systematic Review and Meta-analysis. — Panagiotopoulos M, Tseke P, Michala L Obstetrics and gynecology (2022)
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