Birth Defects Research最新文献

{"title":"(−)-Epicatechin gallate ameliorates cyprodinil-induced cardiac developmental defects through inhibiting aryl hydrocarbon receptor in zebrafish","authors":"Dongqin Huang,&nbsp;Yuchao Su,&nbsp;Mingmei Li,&nbsp;Chengwei Xie,&nbsp;Weibin Hu,&nbsp;Shuxiang Wang,&nbsp;Nanmei Zheng,&nbsp;Jianhui Chen,&nbsp;Yueyun Lin,&nbsp;Weize Cai,&nbsp;Jianjia Xiao,&nbsp;Baojia Chen,&nbsp;Nanping Hu,&nbsp;Fushan Zhou","doi":"10.1002/bdr2.2350","DOIUrl":"10.1002/bdr2.2350","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Cyprodinil is a widely used fungicide with broad-spectrum activity, but it has been associated with cardiac abnormalities. (−)-Epicatechin gallate (ECG), a natural polyphenolic compound, has been shown to possess protective properties in cardiac development.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this study, we investigated whether ECG could mitigate cyprodinil-induced heart defects using zebrafish embryos as a model. Zebrafish embryos were exposed to cyprodinil with or without ECG.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our results demonstrated that ECG significantly improved the survival rate, embryo movement, and hatching delay induced by cyprodinil. Furthermore, ECG effectively ameliorated cyprodinil-induced cardiac developmental toxicity, including pericardial anomaly and impairment of cardiac function. Mechanistically, ECG attenuated the cyprodinil-induced alterations in mRNA expression related to cardiac development, such as <i>amhc</i>, <i>vmhc</i>, <i>tbx5</i>, and <i>gata4</i>, as well as calcium ion channels, such as <i>ncx1h</i>, <i>atp2a2a</i>, and <i>cdh2</i>. Additionally, ECG was found to inhibit the activity of the aryl hydrocarbon receptor (AhR) signaling pathways induced by cyprodinil.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In conclusion, our findings provide evidence for the protective effects of ECG against cyprodinil-induced cardiac developmental toxicity, mediated through the inhibition of AhR activity. These findings contribute to a better understanding of the regulatory mechanisms and safe utilization of pesticide, such as cyprodinil.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 5","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140956193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of MTHFR (C677T, A1298C) and MTRR A66G polymorphisms with fatty acids profile and risk of neural tube defects","authors":"Kaouther Nasri,&nbsp;Nadia Ben Jamaa,&nbsp;Soumeya Siala Gaigi,&nbsp;Moncef Feki,&nbsp;Raja Marrakchi","doi":"10.1002/bdr2.2333","DOIUrl":"10.1002/bdr2.2333","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aims to determine if 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and methionine synthase reductase (MTRR A66G) gene polymorphisms were associated with fatty acid (FA) levels in mothers of fetuses with neural tube defects (NTDs) and whether these associations were modified by environmental factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Plasma FA composition was assessed using capillary gas chromatography. Concentrations of studied FA were compared between 42 mothers of NTDs fetuses and 30 controls as a function of each polymorphism by the Kruskal–Wallis nonparametric test.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In MTHFR gene C677T polymorphism, cases with (CT + TT) genotype had lower monounsaturated FAs (MUFA) and omega-3 polyunsaturated FA (n-3 PUFA) levels, but higher omega-6 polyunsaturated FAs (n-6 PUFA) and omega-6 polyunsaturated FAs: omega-3 polyunsaturated FAs (n-6:n-3) ratio levels. In MTRR gene A66G polymorphism, cases with (AG + GG) genotype had lower MUFA levels, but higher PUFA and n-6 PUFA levels. Controls with (AG + GG) genotype had lower n-6 PUFA levels. In MTHFR gene C677T polymorphism, cases with smoking spouses and (CT + TT) genotype had lower MUFA and n-3 PUFA levels, but higher PUFA, n-6 PUFA, and n-6:n-3 ratio levels. Cases with (CT + TT) genotype and who used sauna during pregnancy had lower n-3 PUFA levels. In MTRR gene A66G polymorphism, cases with (AG + GG) genotype and who used sauna during pregnancy had higher PUFA and n-6 PUFA levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Further research is required to clarify the association of FA metabolism and (MTHFR, MTRR) polymorphisms with NTDs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 5","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140875786","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reversible effects on female rat fertility with abrocitinib, a Janus kinase 1 inhibitor","authors":"Christopher J. Bowman,&nbsp;Sarah N. Campion,&nbsp;Natasha R. Catlin,&nbsp;William S. Nowland,&nbsp;Christine M. Stethem,&nbsp;Zaher A. Radi,&nbsp;Gregg D. Cappon","doi":"10.1002/bdr2.2345","DOIUrl":"10.1002/bdr2.2345","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Abrocitinib is a Janus kinase (JAK) 1 selective inhibitor approved for the treatment of atopic dermatitis. Female reproductive tissues were unaffected in general toxicity studies, but an initial female rat fertility study resulted in adverse effects at all doses evaluated. A second rat fertility study was conducted to evaluate lower doses and potential for recovery.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This second study had 4 groups of 20 females each administered abrocitinib (0, 3, 10, or 70 mg/kg/day) 2 weeks prior to cohabitation through gestation day (GD) 7. In addition, 2 groups of 20 rats (0 or 70 mg/kg/day) were dosed for 3 weeks followed by a 4-week recovery period before mating. All mated females were evaluated on GD 14.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>No effects were observed at ≤10 mg/kg/day. At 70 mg/kg/day (29x human exposure), decreased pregnancy rate, implantation sites, and viable embryos were observed. All these effects reversed 4 weeks after the last dose.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Based on these data and literature on the potential role of JAK signaling in implantation, we hypothesize that these effects may be related to JAK1 inhibition and, generally, that peri-implantation effects such as these, in the absence of cycling or microscopic changes in nonpregnant female reproductive tissues, are anticipated to be reversible.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 5","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140875787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Children with Hirschsprung's disease have high morbidity in the first 5 years of life","authors":"Mads Damkjær,&nbsp;Joachim Tan,&nbsp;Joan K. Morris,&nbsp;Maria Loane,&nbsp;Joanne Given,&nbsp;Clara Cavero-Carbonell,&nbsp;Mika Gissler,&nbsp;Amanda J. Neville,&nbsp;Anna Pierini,&nbsp;Anke Rissmann,&nbsp;David Tucker,&nbsp;Ester Garne","doi":"10.1002/bdr2.2338","DOIUrl":"https://doi.org/10.1002/bdr2.2338","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hirschsprung's disease is a rare congenital anomaly of the colon with absence of the ganglionic nerve cells. The treatment of the anomaly is surgical.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This population-based data-linkage cohort study was part of the EUROlinkCAT project and investigated mortality and morbidity for the first 5 years of life for European children diagnosed with Hirschsprung's disease. Nine population-based registries in five countries from the European surveillance of congenital anomalies network (EUROCAT) participated. Data on children born 1995–2014 and diagnosed with Hirschsprung's disease were linked to hospital databases. All analyses were adjusted for region and length of follow-up, which differed by registry.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The study included 680 children with Hirschsprung's disease. One-year survival was 97.7% (95% CI: 96.4–98.7). Overall, 85% (82–87) had a code for a specified intestinal surgery within the first year increasing to 92% (90–94) before age 5 years. The median age at the first intestinal surgery up to 5 years was 28 days (11–46) and the median number of intestinal surgical procedures was 3.5 (3.1–3.9). Thirty days mortality after neonatal surgery (within 28 days after birth) was 0.9% (0.2–2.5) for children with a code for intestinal surgery within the first 28 days after birth and there were no deaths for children with a code for stoma surgery in the neonatal period.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Children with Hirschsprung's disease have a high morbidity in the first 5 years of life requiring more surgical procedures in addition to the initial surgery. Mortality after neonatal surgery is low.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 5","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2338","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140844925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to Dr. Wise and Dr. DeSesso's comments on “Maternal–fetal safety evaluation of an aqueous extract of Casearia sylvestris leaves in rats”","authors":"Arielle Cristina Arena,&nbsp;Livia Trippe Nagaoka,&nbsp;Barbara de Campos Jorge","doi":"10.1002/bdr2.2341","DOIUrl":"https://doi.org/10.1002/bdr2.2341","url":null,"abstract":"","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 5","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140844741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A global update on the status of prevention of folic acid-preventable spina bifida and anencephaly in year 2022","authors":"Kaustubh Wagh,&nbsp;Vijaya Kancherla,&nbsp;Amanda Dorsey,&nbsp;Helena Pachón,&nbsp;Godfrey P. Oakley Jr","doi":"10.1002/bdr2.2343","DOIUrl":"https://doi.org/10.1002/bdr2.2343","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Mandatory fortification of staple foods with folic acid is an effective public health strategy to prevent folic acid-preventable spina bifida and anencephaly (FAP SBA). We estimated the global proportion of FAP SBA prevented through mandatory folic acid fortification of cereal grains (i.e., wheat flour, maize flour, and rice).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used year 2022 data from the Food Fortification Initiative to identify countries (<i>n</i> = 69) with mandatory fortification of grains that includes folic acid. Sixty-eight countries were eligible for analysis with complete data. Proportion of FAP SBA prevention was modeled assuming &gt;150 mcg/day of folic acid fortification protects against FAP SBA, reducing post-fortification prevalence to a lowest achievable level of 0.5 cases per 1000 births.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our analysis found that a total of 63,520 cases of FAP SBA were prevented in the year 2022 in 68 countries implementing mandatory folic acid fortification of grains with folic acid. This translated to a 23.7% prevention of all possible FAP SBA prevention globally. An excess of 204,430 cases of FAPSBA still occurred in over 100 countries where mandatory staple food fortification with folic acid is not implemented.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our study showed that only a quarter of all FAP SBA cases were averted through mandatory folic acid fortification in the year 2022; many countries are not implementing the policy, resulting in a large proportion of FAP SBA cases that can be prevented. Fortification will help countries with achieving 2030 Sustainable Development Goals on neonatal- and under-five mortality, disability, stillbirths, and elective terminations prevention, from FAP SBA.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 5","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140817260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Abstract Supplement","authors":"","doi":"10.1002/bdr2.2344","DOIUrl":"https://doi.org/10.1002/bdr2.2344","url":null,"abstract":"","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 S1","pages":"S1-S92"},"PeriodicalIF":2.1,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140808125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exercise FITT-V during pregnancy: Association with birth outcomes","authors":"Alex Claiborne,&nbsp;Breanna Wisseman,&nbsp;Kara Kern,&nbsp;Dylan Steen,&nbsp;Filip Jevtovic,&nbsp;Samantha McDonald,&nbsp;Cody Strom,&nbsp;Edward Newton,&nbsp;Christy Isler,&nbsp;James Devente,&nbsp;Steven Mouro,&nbsp;David Collier,&nbsp;Devon Kuehn,&nbsp;George A. Kelley,&nbsp;Linda E. May","doi":"10.1002/bdr2.2340","DOIUrl":"https://doi.org/10.1002/bdr2.2340","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Prenatal exercise improves birth outcomes, but research into exercise dose–response effects is limited.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study is a retrospective, secondary analysis of pooled data from three blinded, prospective, randomized controlled trials. Prenatal exercise frequency, intensity, type, time, and volume (FITT-V) were assessed in supervised sessions throughout pregnancy. Gestational age (GA), neonatal resting heart rate (rHR), morphometrics (body circumferences, weight-to-length and ponderal index) Apgar and reflex scores, and placental measures were obtained at birth. Stepwise regressions and Pearson correlations determined associations between FITT-V and birth outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Prenatal exercise frequency reduces ponderal index (<i>R</i>² = 0.15, <i>F</i> = 2.76, <i>p</i> = .05) and increased total number of reflexes present at birth (<i>R</i>² = 0.24, <i>F</i> = 7.89, <i>p</i> &lt; .001), while exercise intensity was related to greater gestational age and birth length (<i>R</i>² = 0.08, <i>F</i> = 3.14; <i>R</i>² = 0.12, <i>F</i> = 3.86, respectively; both <i>p</i> = .04); exercise weekly volume was associated with shorter hospital stay (<i>R</i>² = 0.24, <i>F</i> = 4.73, <i>p</i> = .01). Furthermore, exercise type was associated with placenta size (<i>R</i>² = 0.47, <i>F</i> = 3.51, <i>p</i> = .01).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Prenatal exercise is positively related to birth and placental outcomes in a dose-dependent manner.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 4","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2340","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140641851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to “Comments on “Maternal–fetal safety evaluation of an aqueous extract of Casearia sylvestris [AECS] leaves in rats” (Nagaoka et al., 2023 [DOI: 10.1002/bdr2.2257])”","authors":"","doi":"10.1002/bdr2.2339","DOIUrl":"https://doi.org/10.1002/bdr2.2339","url":null,"abstract":"<p>\u0000 <span>Wise, L.D.</span> and <span>DeSesso, J.M.</span> (<span>2024</span>), <span><b>Comments on “Maternal–fetal safety evaluation of an aqueous extract of</b> <b><i>Casearia sylvestris</i></b> <b>[AECS] leaves in rats” (Nagaoka et al., 2023 [DOI: 10.1002bdr2.2257])</b></span>. <i>Birth Defects Research</i>, <span>116</span>: e2326. https://doi.org/10.1002/bdr2.2326\u0000 </p><p>In the originally published article, the authors would like to update the following sentence in section 3c: Increases were quite small and the slight decreases in female fetal weights may have been a contributing factor (e.g., 2.1% decrease in absolute male AGD, Clark et al., 1990); however, as in that case, the effect may not be biologically significant.</p><p>The updated sentence is:</p><p>Increases were quite small and the slight decreases in female fetal weights may have been a contributing factor. Slight changes in AGD can be statistically significant (e.g., 2.1% decrease in absolute male AGD, Clark et al., 1990); however, as in that case, the effect may not be biologically significant.</p><p>We apologize for this error.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 4","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2339","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140633757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Post-mortem rapid aneuploidy testing for holoprosencephaly","authors":"Lajos Gergely,&nbsp;Vanda Repiská,&nbsp;Daniel Böhmer,&nbsp;Miroslav Korbeľ,&nbsp;Zuzana Václavová,&nbsp;Liam McCullough,&nbsp;Katarína Melišová,&nbsp;Petra Priščáková","doi":"10.1002/bdr2.2342","DOIUrl":"https://doi.org/10.1002/bdr2.2342","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Abortion and fetal death are common in fetuses with holoprosencephaly, so genetic examinations often have to be made in a post-mortem setting. The efficiency of the conventional karyotyping using cultured fibroblasts in these situations is limited due to frequent culture failure. In the current study, archived cases of holoprosencephaly, where post-mortem genetic evaluation was requested and sufficient frozen material was available, were reevaluated using the quantitative fluorescence polymerase chain reaction (QF-PCR) technique.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Testing for aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y with the QF-PCR technique was carried out on DNA isolated from archived frozen chorionic villi in seven cases of holoprosencephaly.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>QF-PCR was successful in all seven cases. Two cases of trisomy 13, two cases of triploidy, and one case of trisomy 18 was found meaning a 71% diagnostic yield. The success rate of QF-PCR (100%, 7/7) was superior compared to conventional karyotyping (43%, 3/7).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Rapid aneuploidy testing using the QF-PCR technique is a simple, reliable, time- and cost-effective method sufficient to conclude the etiologic investigation in the majority of holoprosencephaly cases post-mortem.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 4","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140606229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}