Fetal Diagnosis and Therapy最新文献

{"title":"Fetal Pulmonary Vascular Assessment and Its Association with Postnatal Ductus Arteriosus Flow in Infants with a Congenital Diaphragmatic Hernia.","authors":"Katinka Weller, Alex J Eggink, Laurens P Koopman, Suzan C M Cochius-Den Otter, Eric A P Steegers, Irwin K M Reiss, Philip L J DeKoninck, Nina C J Peters","doi":"10.1159/000552366","DOIUrl":"10.1159/000552366","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to evaluate the association between fetal right pulmonary artery (RPA) parameters and postnatal ductus arteriosus velocity-time integral (DA VTI) ratios in neonates with mild or moderate left-sided congenital diaphragmatic hernia (L-CDH), and their predictive value for clinical outcomes.</p><p><strong>Methods: </strong>In this prospective cohort study, 49 fetuses with mild or moderate L-CDH were evaluated between 2012 and 2018. RPA diameter and pulsatility index (PI) were measured at 19-24, 25-29, and 30-32 weeks of gestational age (GA). Postnatal DA VTI ratios were assessed at initial echocardiography after birth. An abnormal DA VTI ratio (<1.0) served as the primary outcome. Associations between prenatal RPA parameters, postnatal DA VTI ratios, and neonatal outcomes were analyzed.</p><p><strong>Results: </strong>A smaller RPA diameter at 30-32 weeks of GA was associated with an abnormal DA VTI ratio (p = 0.015). An RPA diameter cutoff of 2.71 mm yielded 60% sensitivity and 84% specificity (area under the curve = 0.74, p = 0.005). Neonates with abnormal DA VTI ratios had higher rates of pulmonary hypertension treatment, need for extracorporeal membrane oxygenation, and lower survival. No associations were found between prenatal RPA PI and DA VTI ratios.</p><p><strong>Conclusion: </strong>In mild and moderate L-CDH, smaller RPA diameters in third-trimester associate with abnormal DA VTI ratio on initial echocardiography after birth.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.7,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13331466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147835714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intrathoracic Kidney Associated with Congenital Diaphragmatic Hernia: Prenatal Detection and Outcomes.","authors":"Ana Idelson, Roie Alter, Anastasia Almog, Ruben Bromiker, Kineret Tenenbaum-Gavish, Nir-Ram Duvdevani, Yuval Gielchinsky","doi":"10.1159/000552336","DOIUrl":"10.1159/000552336","url":null,"abstract":"<p><strong>Introduction: </strong>Intrathoracic kidney (ITK) is a rare renal ectopia often diagnosed incidentally. It is infrequently detected prenatally and frequently coexists with congenital diaphragmatic hernia, a rare clinical combination with limited reported cases.</p><p><strong>Methods: </strong>A retrospective case series was conducted of prenatally diagnosed ITK with congenital diaphragmatic hernia at a tertiary fetal medicine center over 6 years. Data included prenatal imaging, genetic studies, fetal interventions, delivery, surgical management, and long-term outcomes.</p><p><strong>Results: </strong>Four male fetuses with ITK and diaphragmatic hernia were identified, comprising 1.3% of congenital diaphragmatic hernia cases. Seventy-five percent had undescended testes prenatally, and two had severe right-sided hernias managed with fetoscopic tracheal occlusion. All kidneys were ipsilateral to the defect. Postnatal surgical management preserved renal function in all cases. Genetic analysis revealed one de novo pathogenic mutation.</p><p><strong>Conclusion: </strong>Prenatal identification of an ITK associated with congenital diaphragmatic hernia, although rare, holds clinical significance. The anomaly appears positional without worsening prognosis. Coordinated multidisciplinary care leads to favorable outcomes.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13336763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147835693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sonographic Assessment of the Fetal Facial Blood Circulation in First Trimester Pregnancy: \"Face on Fire and Labial Rectangle Signs\".","authors":"Oscar Lavalle-López, Rogelio Cruz-Martínez, Rosa Villalobos-Gómez, Jose Luis Pérez-Olivo, Susana Martínez-Galeano, Karen Hernández-Villar, Freddy Quintana-Guardo, Maria Fernanda Toro-Wills","doi":"10.1159/000552012","DOIUrl":"10.1159/000552012","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to describe the anatomical features of the fetal facial blood circulation during the first trimester of pregnancy.</p><p><strong>Methods: </strong>Blood flow circulation of the fetal face was assessed a prospective cohort of fetuses during routine sonographic screening at 11+0 to 13+6 weeks+days of gestation in a single Fetal Medicine Center in Colombia. In a coronal view of the fetal face, the orofacial circulation was assessed using micro vascular flow mode (MV-Flow™).</p><p><strong>Results: </strong>A total of 162 fetuses with no structural abnormalities were evaluated at a mean gestational age of 12+6 weeks+days. Eight pairs of orofacial arteries could be identified in all cases showing the \"face on fire\" sign, which includes the supratrochlear, supraorbital, temporal, angular, dorsal nasal, superior labial, labiomental, and the ascending branches of the facial arteries. The perilabial circulation forming the fetal \"labial rectangle\" sign was successfully identified in all cases and was delimited anteriorly by the superior labial arteries, laterally by the ascending branches of the facial arteries and posteriorly by the labiomental arteries.</p><p><strong>Conclusion: </strong>Evaluation of orofacial circulation was feasible during the first trimester of pregnancy. The utility of facial blood trajectory for early detection of lip and palate defects requires assessment in further studies.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-6"},"PeriodicalIF":1.7,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147697631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: Novel Insights Saccular Limited Dorsal Myeloschisis - A New Indication for Prenatal Surgery? Case Series and Scoping Review.","authors":"Jose Miguel Müller, Edgardo Alejandro Corral, Mylene Cabrera-Morales, Facundo Las Heras, Carolina B Lindsay, Victor M Lu, Renatto Anfossi","doi":"10.1159/000551526","DOIUrl":"10.1159/000551526","url":null,"abstract":"<p><strong>Introduction: </strong>Limited dorsal myeloschisis (LDM) is a rare type of closed spinal dysraphism characterized by a fibroneural stalk connecting a midline skin defect to the underlying spinal cord. When saccular, LDM can mimic open spina bifida (OSB) lesions such as myelomeningocele (MMC) in prenatal imaging, potentially leading to misdiagnosis and inappropriate management.</p><p><strong>Case presentation: </strong>We retrospectively analyzed eight cases of LDM diagnosed at the Dr. Franco Ravera Zunino Hospital in 2024. Clinical, imaging, surgical, and histopathological data were collected. Three cases were misdiagnosed prenatally as MMC and underwent fetal surgery; four were diagnosed and operated postnatally; one presented signs of sac rupture during gestation and was presumed LDM without histological confirmation. All seven histologically confirmed LDM cases met the two classical criteria proposed by Pang: a cutaneous midline lesion and a fibroneural stalk confirmed with Glial Fibrillary Acidic Protein-immunopositive neuroglial tissue. Five of the cases exhibited Chiari II malformation (CMII), three had ventriculomegaly, and one required shunting. Motor deficits were observed in four patients, ranging from L2 to L4. Notably, one case initially excluded from fetal surgery due to unclear diagnosis later developed sac rupture and CMII progression.</p><p><strong>Conclusion: </strong>Our series highlights the need to include LDM in the differential diagnosis of OSB during prenatal evaluations. The differential diagnosis of LDM versus MMC remains a major prenatal challenge, particularly in the saccular form. Further studies are warranted to improve prenatal imaging and diagnostic accuracy.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-18"},"PeriodicalIF":1.6,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147697612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intrapartum Fetal Heart Rate Anomalies in Acute Fatty Liver of Pregnancy: A Case Report and Pathophysiological Insights.","authors":"Andrea Dall'Asta, Salvatore Politi, Davide Scebba, Tullio Ghi","doi":"10.1159/000552092","DOIUrl":"10.1159/000552092","url":null,"abstract":"<p><strong>Introduction: </strong>Acute fatty liver of pregnancy (AFLP) is a rare but potentially life-threatening obstetric condition characterized by maternal hepatic dysfunction and risk of rapid clinical deterioration. In this setting, fetal hypoxia may develop through multiple mechanisms, including maternal metabolic acidosis, hypovolemia, and placental fatty acid accumulation. These factors may impair oxygen transfer, partly through alterations in the Bohr-Haldane effect, ultimately compromising fetal oxygenation.</p><p><strong>Case presentation: </strong>We report a case of AFLP complicated by fetal heart rate abnormalities in the context of maternal hepatic failure. The clinical course was characterized by progressive maternal metabolic derangement and signs of fetal compromise. The observed fetal heart rate anomalies were interpreted in light of impaired maternal-fetal oxygen exchange, likely related to a combination of metabolic acidosis and reduced placental perfusion.</p><p><strong>Conclusion: </strong>This report highlights the pathophysiological mechanisms underlying fetal heart rate abnormalities in AFLP, emphasizing the role of maternal metabolic acidosis and placental hypoperfusion in the development of fetal hypoxia. Greater awareness of these mechanisms may facilitate earlier recognition and timely management of fetal compromise in this rare but critical condition.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147697263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fetal Sylvian Fissure Charts to Evaluate the Development of Fetal Brain Using Prenatal MRI.","authors":"Siyan Lu, Yan Song, Ran Li, Hongbo Pu, Xi Chen, Yuchen Liu, Min Kang, Hongyu Yin","doi":"10.1159/000551950","DOIUrl":"10.1159/000551950","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to assess fetal sylvian fissure (SF) development via MRI to early detect cortical abnormalities by quantifying the morphological characteristics.</p><p><strong>Methods: </strong>This study retrospectively evaluated the prenatal MRI of 324 normal singleton pregnancies at 22-38+6 weeks of gestation (GA). Biparietal diameter, insula depth (ID), sylvian fissure width (SFW), uncovered insula length, uncovered insula rate (UIR), sylvian fissure depth, sylvian fissure anterior depth (SFAD), sylvian fissure posterior depth (SFPD), sylvian fissure superior depth (SFSD), and sylvian fissure inferior depth (SFID) were obtained in the axial and coronal positions. Reproducibility was assessed using 40 cases and verified using the intraclass correlation coefficient (ICC). Correlations with GA were analyzed, and growth charts were drawn using optimal curve fitting. A paired-sample t test was used to compare the left-right disparities, and an independent-sample t test was used to compare the differences between SFAD and SFPD and between SFID and SFSD. To evaluate clinical utility, we applied the normative charts to two fetuses with genetically confirmed cerebral cortical malformations.</p><p><strong>Results: </strong>Interobserver agreements were reproducible (ICC: 0.870-0.988). Reference ranges for SF parameters were established. All SF parameters showed a significant correlation with GA (|r| = 0.386-0.965, p < 0.05). Axial measurements showed left-right differences in SFW and UIR. SFPD was longer than SFAD bilaterally (p < 0.05). In comparison, SFID was significantly longer than SFSD only on the left side (p < 0.05). The model detected two genetically confirmed cases of polymicrogyria at 26+6 and 30 weeks of gestation and identified subtle focal structural abnormalities undetectable by routine imaging, revealing widespread asymmetrical SF defects.</p><p><strong>Conclusion: </strong>The development of the SFe is dynamic throughout gestation and is a reliable feature of fetal cortex gyration. We provide certain reference standards of prenatal MRI to assist in diagnosing abnormal fetal cerebral cortex development.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-15"},"PeriodicalIF":1.7,"publicationDate":"2026-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147662404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Premature Rupture of Membranes after Serial Amnioinfusions in Fetuses with Early Anhydramnios due to Severe Renal Disease/Lower Urinary Obstruction.","authors":"Edgar Hernandez-Andrade, Kevin Magee, Donatella Gerulewicz Vannini, Jimmy Espinoza, Percy Pacora Pacotella, Dejian Lai, Sami Backley, Felicia Venable Lemoine, Ramesha Papanna, Anthony Johnson","doi":"10.1159/000551948","DOIUrl":"10.1159/000551948","url":null,"abstract":"<p><strong>Introduction: </strong>This study estimates the frequency of preterm premature rupture of membranes (PPROM) in fetuses with early anhydramnios due to severe renal or urinary disease treated with serial amnioinfusions (AIs).</p><p><strong>Methods: </strong>Fetuses diagnosed with early anhydramnios (<25 weeks gestation) secondary to severe renal disease or urinary tract obstruction underwent serial AIs at two academic centers, to reduce uterine compression and prevent pulmonary hypoplasia. Fetuses with structural or chromosomal anomalies were excluded. AIs were performed to maintain an amniotic fluid index (AFI) between 15 and 20 cm. Patients were monitored biweekly, and AIs were repeated whenever AFI decreased to 5-8 cm. Signs of fetal distress, membrane detachment, and clinical chorioamnionitis were closely monitored. PPROM was defined as spontaneous membrane rupture before 35 weeks of gestation, or delivery. The frequency of PPROM was analyzed in relation to gestational age at diagnosis and to the number of AIs performed. Associations between the number of AIs and PPROM were evaluated with logistic regression analysis.</p><p><strong>Results: </strong>A total of 340 AIs were performed in 32 fetuses between 19 and 35 weeks gestation with a median (range) of 13 (2-22) AIs per patient. PPROM occurred in 12 patients (37.5%), with 7 cases (21.8%) before 32 weeks. PPROM occurred in 30.8% (4/13) of cases with 2-9 AIs, and in 42.1% (8/19) of cases with 10-22 AIs (OR 1.6 [95% CI 0.36-7.25; p = 0.51]). Twenty (62.5%) cases reached 35 weeks or delivery without PPROM. Notably, 28/32 patients (87.5%) completed 9 AIs without presenting PPROM. No PPROM occurred before 26 weeks.</p><p><strong>Conclusion: </strong>The overall risk of PPROM <35 weeks following serial AIs for early anhydramnios due to severe renal or urinary tract disease was 37.5%. Despite no significant differences in PPROM related to the number of AIs, there is an increment in PPROM frequency after nine AIs.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-10"},"PeriodicalIF":1.7,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147654000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prospective Clinical Testing of a \"Beat-To-Beat\" Extraction Method for Fetal Electrocardiography.","authors":"Anita Krishnan, Pooneh Roshanitabrizi, Anqing Zhang, Emily Boland, Jordyn Britton, Trong Nguyen, Van Khanh Lam, Stephanie Lacey, Raj Shekhar, Homa K Ahmadzia, Ahmet A Baschat, Mary T Donofrio, Rathinaswamy Govindan","doi":"10.1159/000550821","DOIUrl":"10.1159/000550821","url":null,"abstract":"<p><strong>Introduction: </strong>There is a critical clinical need for fetal electrocardiography (fECG), but no methods have successfully translated to the ambulatory setting. We developed a novel fECG system combining custom hardware and null coherence-based signal processing, then evaluated its feasibility for fECG extraction in normal and at-risk pregnancies.</p><p><strong>Methods: </strong>We applied the fECG system to 43 patients (25 normal fetuses, 18 abnormal). FECG studies were 15 min long and utilized 12-24 electrodes and 1 ground. Signal processing was done during collection with additional post-processing. Two clinician raters blinded to gestational age, indication, and each other's assessments, graded the quality of studies using a 5-point scale. The raters measured the PR, QRS, and/or QTc intervals twice where possible.</p><p><strong>Results: </strong>In 43 subjects, 30 had time-resolved fECG separation (70%) and the median grading (based on two raters across two sessions) was 3 or greater in 26/43 fetuses (60%) with graded studies. Sixty three percent of cases (27/43) had a measurable fetal cardiac time interval. Signal quality was reduced in participants with BMI ≥30 and during the vernix period (25-32 weeks' gestation).</p><p><strong>Conclusion: </strong>Our findings demonstrate the feasibility of fECG across gestation, enabling beat-to-beat signal extraction and CTI measurement with a 63% success rate.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-11"},"PeriodicalIF":1.7,"publicationDate":"2026-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13094077/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147608504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Catheter-Based Foetal Cardiac Interventions: Literature Review.","authors":"Pak-Cheong Chow","doi":"10.1159/000551612","DOIUrl":"10.1159/000551612","url":null,"abstract":"<p><strong>Background: </strong>Foetal cardiac interventions (FCIs) represent a groundbreaking advancement in maternal-foetal medicine, offering therapeutic strategies to address congenital heart defects (CHDs) in utero.</p><p><strong>Summary: </strong>The indications, techniques, complications, and outcomes of the three most reported FCIs, namely, foetal aortic valvuloplasty, foetal pulmonary valvuloplasty, and foetal atrial septal intervention, were systematically reviewed based on the published literature. The challenges and future directions of this field were also highlighted.</p><p><strong>Key messages: </strong>FCIs open the therapeutic opportunity of several severe CHDs. However, the selection of cases for best outcome is yet to be refined due to lack of randomized controlled trial.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-20"},"PeriodicalIF":1.6,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147503467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Should Exome Sequencing Replace Chromosomal Microarray Analysis in Suspected Skeletal Dysplasias? Lessons from a Case of Osteogenesis Imperfecta.","authors":"Gustavo Betin, Mariana Devia, Walter Annicchiarico, Patrizia Iannello, María Moreno, Natalia Maestre, Jezid Miranda","doi":"10.1159/000551269","DOIUrl":"10.1159/000551269","url":null,"abstract":"<p><strong>Introduction: </strong>Skeletal dysplasias are genetically heterogeneous disorders characterized by high diagnostic complexity and major perinatal impact. Under current diagnostic guidelines, chromosomal microarray remains the recommended first-tier test for fetal anomalies. However, in suspected skeletal dysplasias ‑ where sequencing provides a markedly higher diagnostic yield ‑ starting with chromosomal microarray testing may delay diagnosis. Recent advances in next-generation sequencing, along with the 2022 International Society of Skeletal Dysplasias classification, now allow for earlier and more precise evaluation. We present a case of life-limiting osteogenesis imperfecta diagnosed prenatally through exome sequencing (ES), highlighting its efficiency and diagnostic advantage over chromosomal microarray analysis.</p><p><strong>Case presentation: </strong>A 24-year-old primigravida was assessed during first trimester screening in Cartagena, Colombia. Ultrasound at 13 weeks revealed multiple fetal anomalies suggestive of skeletal dysplasia. Chorionic villus sampling was performed, and molecular analysis with ES identified a heterozygous substitution NM_000088.3:c.1291G>T (p.Gly431Cys) in COL1A1, located in the triple helix domain of type I collagen. This variant was absent from genomic databases and showed previously documented glycine substitutions, being classified as \"likely pathogenic.\" The patient opted for legal termination of pregnancy, and fetal histopathology confirmed osteogenesis imperfecta.</p><p><strong>Conclusion: </strong>This novel COL1A1 variant reinforces the role of glycine substitutions in osteogenesis imperfecta. While chromosomal microarray remains first-tier, ES offers a faster and more efficient pathway for diagnosing suspected skeletal dysplasias, enhancing early counseling in resource-limited settings.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.6,"publicationDate":"2026-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147480145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}