Fetal Diagnosis and Therapy最新文献

{"title":"Stability and Compatibility of an Intramuscular Fetal Anesthetic Cocktail for Fetal Intervention.","authors":"Emma L Ross, Cristina L Wood, Michael F Wempe","doi":"10.1159/000538611","DOIUrl":"10.1159/000538611","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to evaluate chemical stability and physical compatibility when combining fentanyl, rocuronium, and atropine in a fixed ratio to support intramuscular drug delivery during fetal intervention and surgery.</p><p><strong>Methods: </strong>A highly concentrated combination of fentanyl, rocuronium, and atropine was created based on common prescribing practices at a maternal-fetal care center. Chemical stability testing was completed using liquid chromatograph mass spectrometry-mass spectrometry (LC/MS-MS) to detect and quantitate atropine, rocuronium, and fentanyl, with fentanyl-d5 being an internal standard at 6, 12, 24, and 36 h following sample preparation. Physical compatibility testing was completed using United States Pharmacopeia (USP) &lt;788&gt; recommended analytical technique of light obscuration in addition to novel backgrounded membrane imaging at 6 and 24 h following sample preparation. Physical compatibility was determined using USP &lt;788&gt; particle count limits for both techniques.</p><p><strong>Results: </strong>Based on LC/MS-MS results, the samples retained expected medication concentrations at all time points tested. For physical compatibility testing, the particle counts met criteria to be considered compatible per USP &lt;788&gt; large-volume particle count thresholds at 6 h by both methods but exceeded tolerable thresholds at 24 h.</p><p><strong>Discussion/conclusion: </strong>The combination of rocuronium, fentanyl, and atropine for intramuscular fetal administration is physically compatible and chemically stable for 6 h.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"313-319"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140331673","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":"New Findings in the Multidisciplinary Management of a Fetal Intrapericardial Teratoma: A Case Report.","authors":"Marco Carosso, Andrea Roberto Carosso, Gianluca Bertschy, Simona Sdei, Luca Marozio, Andrea Sciarrone, Chiara Benedetto","doi":"10.1159/000533132","DOIUrl":"10.1159/000533132","url":null,"abstract":"<p><strong>Introduction: </strong>Fetal intrapericardial teratoma is a rare tumor that can be diagnosed by antenatal ultrasonography early in pregnancy.</p><p><strong>Case presentation: </strong>A fetal intrapericardial teratoma was detected on routine ultrasonography in the second trimester of pregnancy. At 31 weeks gestation, a marked increase in tumor size, fetal ascites, and pericardial effusion were observed, indicating that preterm delivery would be inevitable. Corticosteroid prophylaxis (24 mg of betamethasone in two doses of 12 mg 24 h apart) initiated for prophylaxis of respiratory distress syndrome led to a reduction in fetal ascites and pericardial effusion. Betamethasone therapy (4 mg/per day) was continued with the aim to postpone the expected date of delivery. Gestation was extended for more than 2 weeks. At 33 weeks and 5 days gestation, the neonate was delivered by elective cesarean section with ex utero intrapartum treatment and immediately submitted to fetal cardiac surgery. The infant was discharged from the hospital in good health about 4 months later.</p><p><strong>Conclusion: </strong>The present report draws attention to improvement in fetal status and extension of gestation achieved with maternal low-dose corticosteroid therapy on antenatal ultrasound finding of fetal ascites and pericardial effusion due to intrapericardial teratoma.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"92-100"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41120848","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":"Prenatal Findings in Postnatal Cases of Disorders of Sex Development: Experience from a Tertiary-Specialized Center in Brazil.","authors":"Kleber Andrade Cursino, Guilherme Mantelato Garcia, Beatriz Amstalden Barros, Tais Nitsch Mazzola, Helena Fabbri-Scallet, Mara Sanches Guaragna, Tarsis Antonio Paiva Vieira, Maricilda Palandi de Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior","doi":"10.1159/000534401","DOIUrl":"10.1159/000534401","url":null,"abstract":"<p><strong>Introduction and objective: </strong>Prenatal suspicion of disorders/differences of sex development (DSDs) is a relatively new phenomenon. The aim of this study was to review the prenatal findings of DSD cases postnatally diagnosed in our tertiary referral center.</p><p><strong>Methods: </strong>We evaluated 57 DSD cases with sex ambiguity who had undergone prenatal ultrasound with phenotypic sex assessment and/or cell-free fetal DNA (cffDNA) for genotypic sex assessment.</p><p><strong>Results: </strong>Prenatal cffDNA had been performed in 32 cases, being positive (suggestive of male genotypic sex) in 26 and negative (suggestive of female genotypic sex) in 6. Five with cffDNA negative had a prenatal ultrasound indicating female external genitalia, in turn, in those with cffDNA positive, only two had a prenatal ultrasound indicating male external genitalia. Our postnatal data showed that when external genitalia were female or poorly virilized, prenatal ultrasound indicated female sex, but in cases of higher degree of virilization, ultrasound showed similar rates of male, female, or undetermined sex. Regarding the karyotype, our data showed those with XY karyotype had positive cffDNA, those with XX karyotype had negative cffDNA, and all five with sex chromosome anomalies had positive cffDNA because they were 45,X/46,XY. We suggested an algorithm to investigate these cases during gestation, including evaluation of uterus, fetal growth, and malformations.</p><p><strong>Conclusion: </strong>We suggest that the parents should be counseled prenatally by a dedicated multidisciplinary team with experience in DSD management and evaluated as soon as possible after birth.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"49-54"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41136361","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":"The Effect of Maternal Lower Limb Compression on Amniotic Fluid Index, Uteroplacental Perfusion, and Fetal Blood Flow in Isolated Oligohydramnios.","authors":"Inshirah Sgayer, Maya Frank Wolf, Susana Mustafa Mikhail, Lior Lowenstein, Marwan Odeh","doi":"10.1159/000534816","DOIUrl":"10.1159/000534816","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to examine the efficacy of pneumatic compression of the maternal lower extremities in increasing the amniotic fluid index (AFI) in pregnancies complicated by isolated oligohydramnios.</p><p><strong>Methods: </strong>Women with isolated oligohydramnios (AFI &lt;5 cm) at 32-41 weeks of pregnancy were connected to a sequential compression device for 60 min. Prior and after the application, AFI and the pulsatility index (PI) of a number of arteries were measured.</p><p><strong>Results: </strong>The median (interquartile range) maternal age of the 21 women included was 29 years (26.50-32.00), the median parity was 1 (1-2), and the median gestational age at intervention was 37.60 weeks (37.00-39.40). The median AFI increased after the application from 4.00 (3.62-4.50) to 6.08 cm (4.90-7.03) (p &lt; 0.001). The median PI of the fetal renal artery decreased from 2.30 (2.01-2.88) to 2.26 (1.68-2.71) (p = 0.01). The hourly fetal urine production did not increase. Changes were not significant in the PI of the umbilical artery, the middle cerebral artery, and the bilateral uterine arteries.</p><p><strong>Conclusion: </strong>Short-term activation of pneumatic compression on maternal lower extremities could increase the AFI in women with isolated oligohydramnios.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"85-91"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10836746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71411273","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":"Role of Cerebroplacental Ratio in Predicting the Outcome of Pregnancies Complicated by Diabetes.","authors":"Federica Cardinali, Chiara Panunzi, Francesco D'Antonio, Asma Khalil, Arsenio Spinillo, Alessia Arossa, Alessandra Familiari, Giorgio Pagani, Serena Resta, Giuseppe Rizzo","doi":"10.1159/000534483","DOIUrl":"10.1159/000534483","url":null,"abstract":"<p><strong>Introduction: </strong>Our objective was to evaluate the strength of association and diagnostic performance of cerebroplacental ratio (CPR) in predicting the outcome of pregnancies complicated by pre- and gestational diabetes mellitus.</p><p><strong>Methods: </strong>PubMed, Embase, Cochrane, and Google Scholar databases were searched. Inclusion criteria were pregnancies complicated by gestational or pregestational diabetes undergoing ultrasound assessment of CPR. The primary outcome was a composite score of perinatal mortality and morbidity as defined by the original publication. The secondary outcomes included preterm birth gestational age (GA) at birth, mode of delivery, fetal growth restriction (FGR) or small for GA (SGA) newborn, neonatal birthweight, perinatal death (PND), Apgar score &lt;7 at 5 min, abnormal acid-base status, neonatal hypoglycemia, admission to neonatal intensive care unit (NICU). Furthermore, we aimed to perform a number of sub-group analyses according to the type of diabetes (gestational and pregestational), management adopted (diet insulin or oral hypoglycemic agents), metabolic control (controlled vs. non-controlled diabetes), and fetal weight (FGR, normally grown, and large for GA fetuses). Head-to-head meta-analyses were used to directly compare the risk of each of the explored outcomes. For those outcomes found to be significant, computation of diagnostic performance of CPR was assessed using bivariate model.</p><p><strong>Results: </strong>Six studies (2,743 pregnancies) were included. The association between low CPR and adverse composite perinatal outcome was not statistically significant (p = 0.096). This result did not change when stratifying the analysis using CPR cut-off below 10th (p = 0.079) and 5th (p = 0.545) centiles. In pregnancies complicated by GDM, fetuses with a low CPR had a significantly higher risk of birthweight &lt;10th percentile (OR: 5.83, 95% confidence interval [CI] 1.98-17.12) and this association remains significant when using a CPR &lt;10th centile (p &lt; 0.001). Fetuses with low CPR had also a significantly higher risk of PND (OR: 6.15, 95% CI 1.01-37.23, p &lt; 0.001) and admission to NICU (OR 3.32, 95% CI 2.21-4.49, p &lt; 0.001), but not of respiratory distress syndrome (p = 0.752), Apgar score &lt;7 at 5 min (p = 0.920), abnormal acid-base status (p = 0.522), or neonatal hypoglycemia (p = 0.005). These results were confirmed when stratifying the analysis including only studies with CPR &lt;10th centile as a cut-off to define abnormal CPR. However, CPR showed a low diagnostic accuracy for detecting perinatal outcomes.</p><p><strong>Conclusion: </strong>CPR is associated but not predictive of adverse perinatal outcome in pregnancies complicated by gestational diabetes. The findings from this systematic review do not support the use of CPR as a universal screening for pregnancy complication in women with diabetes.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"55-65"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71479858","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":"Erratum.","authors":"","doi":"10.1159/000541608","DOIUrl":"10.1159/000541608","url":null,"abstract":"","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"624"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142371400","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":"Utility of the Angle between the Right Aortic Arch and First Branch for Detecting Double Aortic Arch via Fetal Echocardiography.","authors":"Masayoshi Mori, Yoichiro Ishii, Kunihiko Takahashi, Yuka Hayashida, Takuya Fujisaki, Kumiyo Matsuo, Dai Asada, Hisaaki Aoki, Futoshi Kayatani","doi":"10.1159/000534039","DOIUrl":"10.1159/000534039","url":null,"abstract":"<p><strong>Introduction: </strong>The presence of a double aortic arch (DAA) is manifested by compressive symptoms, requiring surgery. DAA cases are classified as either complete or incomplete type. DAA and a right aortic arch with mirror image branching (mRAA) have a similar configuration to the first branch artery. The first branch of the mRAA is the left brachiocephalic artery, which appears to be the same as that of an incomplete DAA due to blood flow interruption. The present retrospective study aimed to evaluate the differences between DAA and mRAA by fetal echocardiography.</p><p><strong>Methods: </strong>This single retrospective cohort study included all patients diagnosed with complete DAA, incomplete DAA, or mRAA at our facility between 2010 and 2022. The patients were diagnosed with complete DAA, incomplete DAA, or mRAA after birth and remaining fetal echocardiograms. The patients were divided into the DAA (complete DAA: n = 4, incomplete DAA: n = 3) and mRAA (n = 4) groups. The following three outcomes were compared: (1) angle between the right aortic arch and first branch (RF angle), (2) ratio of height to width of the region bounded by the aortic arch, first branch of the aortic arch, and descending aorta, and (3) maximum tracheal diameter on a three-vessel trachea view.</p><p><strong>Results: </strong>The incomplete DAA cases were difficult to diagnose via fetal echocardiography. On fetal echocardiography, the RF angle was significantly steeper in the DAA group than in the mRAA group (median 57° [36°-69°] vs. 75° [62°-94°]; p &lt; 0.05). The DAA and RAA groups showed no significant differences in the ratio of height to width of the region bounded by the aortic arch, first branch of the aortic arch, and descending aorta (median 0.57 [0.17-0.68] vs. 0.73 [0.56-1.0]) and maximum tracheal diameter (median 2.5 [1.4-3.3] vs. 3.2 [2.8-3.5] mm). The cut-off value for the presence of DAA was an RF angle &lt;71°.</p><p><strong>Conclusion: </strong>The DAA group (complete and incomplete DAA) had a significantly steeper RF angle than the mRAA group. Therefore, RF angle measurement could improve the fetal diagnosis and postnatal prognosis of DAA.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"16-22"},"PeriodicalIF":2.2,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10836748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41104560","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":"Should We Stitch-Close the Fetoscopic Percutaneous Access? A Case-Series of Laparotomy to Trans-Amniotic Membrane Suturing for Intrauterine Port Placement in Fetoscopic Surgery for Twins.","authors":"Braxton Forde, Gerrado Sepulveda Gonzalez, Foong-Yen Lim, Tayde Arroyo-Lemarroy, Eduardo Noe Nava Geurrero, Esteban Lizarraga-Cepeda, Mounira Habli, David McKinney, Mallory Hoffman, Jose L Peiro","doi":"10.1159/000539894","DOIUrl":"10.1159/000539894","url":null,"abstract":"<p><strong>Introduction: </strong>Maternal laparotomy-assisted fetoscopic surgery for in-utero myelomeningocele repair has shown that a trans-amniotic membrane suture during fetoscopic port placement can reduce postsurgical complications. Fetoscopic laser photocoagulation (FLP) for complex twins is typically performed percutaneously without a transmembrane stitch. However, in scenarios without a placental-free window, maternal laparotomy may be used for recipient sac access. Here, we present the outcomes of our series of laparotomy-assisted FLP cases, including a trans-amniotic membrane suturing of the fetoscopic port.</p><p><strong>Methods: </strong>Retrospective series of twin-twin transfusion syndrome or twin anemia-polycythemia sequence (TAPS) cases treated at 2 fetal centers that underwent maternal laparotomy to FLP from September 2017 to January 2023. We recorded preoperative and operative characteristics, as well as pregnancy and neonatal outcomes.</p><p><strong>Results: </strong>During the study period, 9 maternal laparotomy to FLP cases were performed. Two were excluded for prior percutaneous FLP in the pregnancy. The remaining seven utilized a maternal laparotomy to trans-amniotic membrane stitch with confirmation of proper suture placement under ultrasound guidance, and all surgeries were performed with a single 10 F Check-Flo® cannula. Mean gestational age (GA) at surgery was 19.1 weeks (range 16 weeks 4 days-23 weeks 3 days), with delivery occurring at a mean GA of 35.0 weeks (range 32 weeks 0 days-37 weeks 1 day), resulting in a mean latency of 15.8 weeks, significantly longer than what is reported in the literature and our own data (mean latency for percutaneous FLP 10.2, 95% CI 9.9-10.5). Furthermore, all cases underwent iatrogenic delivery before labor onset, with the lone delivery prior to 34 weeks due to concern for post-laser TAPS.</p><p><strong>Conclusion: </strong>This case series of laparotomy to FLP with trans-amniotic stitch, demonstrated no cases of spontaneous preterm birth and a longer-than-expected latency from surgery to delivery. Larger studies are warranted to investigate this approach.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"510-515"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141418496","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":"Value of Biochemical Amniotic Fluid Analysis and Fetal Magnetic Resonance Imaging in the Prenatal Diagnosis of Congenital Microgastria.","authors":"Aurelie Lepee, Jerome Massardier, Anthony Atallah, Mona Massoud, Magali Pettazzoni, Cyril Huissoud, Remi Dubois, Laurent Guibaud, Sara Cabet","doi":"10.1159/000539888","DOIUrl":"10.1159/000539888","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital microgastria (CM) is a rare condition due to early interruption of stomach development between the 4th and 8th week of gestation, leading to a small midline tubular stomach. Prenatal diagnosis of CM is a challenge with important implications. This study explores the value of biochemical amniotic fluid (AF) analysis and fetal magnetic resonance imaging (MRI) for the prenatal diagnosis of CM in case of nonvisible stomach on fetal ultrasound.</p><p><strong>Case presentation: </strong>Four cases of CM were retrospectively investigated in terms of fetal ultrasound, MRI findings, and biochemical AF analyses. The patients were referred to the Prenatal Diagnosis Unit of the Hôpital Femme Mère Enfant (Lyon, France) at a mean age of 21 weeks of gestation for absent or small fetal stomach on ultrasound with a suspected diagnosis of esophageal atresia (EA). Ultrasound examination confirmed that the stomach was absent in two of the four fetuses and small in the other two. This feature was associated with a congenital heart defect in two cases and a terminal transverse limb defect in one case. Standard genetic workup (array-CGH) results were normal. Biochemical AF analysis, including the EA index, was not suggestive of EA. Fetal MRI showed a small midline tubular stomach, associated with a dilated esophagus, highly suggestive of CM.</p><p><strong>Conclusion: </strong>If the fetal stomach is absent on ultrasound, CM should be considered if the AF volume is normal, especially during the third trimester, and if the EA index is not suggestive of gastrointestinal obstruction. In these cases, the diagnosis can be confirmed by fetal MRI, through observation of a small midline tubular stomach associated with a dilated esophagus.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"486-492"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141456117","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":"Maternal Lifestyle and Prenatal Risk Factors for Childhood Leukemia: A Review of the Existing Evidence.","authors":"Leticia Benítez, Sara Castro-Barquero, Fàtima Crispi, Lina Youssef, Francesca Crovetto, Ute Fischer, Ersen Kameri, Clara Bueno, Mireia Camos, Pablo Menéndez, Merja Heinäniemi, Arndt Borkhardt, Eduard Gratacós","doi":"10.1159/000539141","DOIUrl":"10.1159/000539141","url":null,"abstract":"<p><strong>Background: </strong>Acute leukemia is the most common pediatric cancer, with an incidence peak at 2-5 years of age. Despite the medical advances improving survival rates, children suffer from significant side effects of treatments as well as its high social and economic impact. The frequent prenatal origin of this developmental disease follows the two-hit carcinogenesis model established in the 70s: a first hit in prenatal life with the creation of genetic fusion lesions or aneuploidy in hematopoietic progenitor/stem cells, and usually a second hit in the pediatric age that converts the preleukemic clone into clinical leukemia. Previous research has mostly focused on postnatal environmental factors triggering the second hit.</p><p><strong>Summary: </strong>There is scarce evidence on prenatal risk factors associated with the first hit. Mainly retrospective case-control studies suggested several environmental and lifestyle determinants as risk factors. If these associations could be confirmed, interventions focused on modifying prenatal factors might influence the subsequent risk of leukemia during childhood and reveal unexplored research avenues for the future. In this review, we aim to comprehensively summarize the currently available evidence on prenatal risk factors for the development of childhood leukemia. According to the findings of this review, parental age, ethnicity, maternal diet, folate intake, alcohol consumption, X-ray exposure, pesticides, perinatal infections, and fetal growth may have a significant role in the appearance of preleukemic lesions during fetal life. Other factors such as socioeconomic status, consumption of caffeinated beverages, and smoking consumption have been suggested with inconclusive evidence. Additionally, investigating the association between prenatal factors and genetic lesions associated with childhood leukemia at birth is crucial. Prospective studies evaluating the link between lifestyle factors and genetic alterations could provide indirect evidence supporting new research avenues for leukemia prevention. Maternal diet and lifestyle factors are modifiable determinants associated with adverse perinatal outcomes that could be also related to preleukemic lesions.</p><p><strong>Key messages: </strong>Parental age, ethnicity, maternal diet, folate intake, alcohol consumption, X-ray exposure, pesticides, perinatal infections, and fetal growth may have a significant role in the appearance of preleukemic lesions during fetal life. Dedicating efforts to studying maternal lifestyle during pregnancy and its association with genetic lesions leading to childhood leukemia could lead to novel prevention strategies.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"395-410"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140859834","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}