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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2007 3
2008 1
2009 1
2010 5
2011 1
2012 4
2013 3
2014 13
2015 8
2016 6
2017 13
2018 9
2019 16
2020 9
2021 14
2022 17
2023 21
2024 9

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132 results

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Page 1
Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis.
Mone F, Mellis R, Gabriel H, Baptiste C, Giordano J, Wapner R, Chitty LS. Mone F, et al. Am J Obstet Gynecol. 2023 Apr;228(4):409-417.e4. doi: 10.1016/j.ajog.2022.09.045. Epub 2022 Oct 7. Am J Obstet Gynecol. 2023. PMID: 36209938 Free article. Review.
OBJECTIVE: This study aimed to determine the incremental yield of prenatal exome sequencing over chromosomal microarray or G-banding karyotype in fetuses with: (1) intrauterine growth restriction related to placental insufficiency or (2) short long bones, in isolated and n …
OBJECTIVE: This study aimed to determine the incremental yield of prenatal exome sequencing over chromosomal microarray or G-banding kary …
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.
Mellis R, Oprych K, Scotchman E, Hill M, Chitty LS. Mellis R, et al. Prenat Diagn. 2022 May;42(6):662-685. doi: 10.1002/pd.6115. Epub 2022 May 7. Prenat Diagn. 2022. PMID: 35170059 Free PMC article.
The incremental diagnostic yield of ES over CMA/karyotype was calculated and pooled in a meta-analysis. Sub-group analyses investigated effects of case selection and fetal phenotype on diagnostic yield. ...CONCLUSION: Prenatal ES provides a diagnosis in an additional 31% o …
The incremental diagnostic yield of ES over CMA/karyotype was calculated and pooled in a meta-analysis. Sub-group analyses investigat …
Comprehensive evaluation of the child with intellectual disability or global developmental delays.
Moeschler JB, Shevell M; Committee on Genetics. Moeschler JB, et al. Pediatrics. 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839. Pediatrics. 2014. PMID: 25157020 Free PMC article. Review.
Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. ...
Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization su …
Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis.
Society for Maternal-Fetal Medicine (SMFM); Norton ME, Chauhan SP, Dashe JS. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2015 Feb;212(2):127-39. doi: 10.1016/j.ajog.2014.12.018. Epub 2014 Dec 31. Am J Obstet Gynecol. 2015. PMID: 25557883 Review.
RESULTS AND RECOMMENDATIONS: Evaluation of hydrops begins with an antibody screen (indirect Coombs test) to determine if it is nonimmune, detailed sonography of the fetus(es) and placenta, including echocardiography and assessment for fetal arrhythmia, and middle cerebral artery …
RESULTS AND RECOMMENDATIONS: Evaluation of hydrops begins with an antibody screen (indirect Coombs test) to determine if it is nonimmune, de …
Whole exome sequencing in fetuses with isolated increased nuchal translucency: a systematic review and meta-analysis.
Di Girolamo R, Rizzo G, Khalil A, Alameddine S, Lisi G, Liberati M, Novelli A, D'Antonio F. Di Girolamo R, et al. J Matern Fetal Neonatal Med. 2023 Dec;36(1):2193285. doi: 10.1080/14767058.2023.2193285. J Matern Fetal Neonatal Med. 2023. PMID: 37019452 Free article.
Inclusion criteria were fetuses with NT >95(th) percentile, normal karyotype and CMA and no associated structural anomalies at the time of the 11-14 weeks scan. The primary outcome was to estimate the incremental yield of detecting pathogenic or likely pathogenic geneti …
Inclusion criteria were fetuses with NT >95(th) percentile, normal karyotype and CMA and no associated structural anomalies at the …
Diagnostic yield of exome sequencing in isolated fetal growth restriction: Systematic review and meta-analysis.
Pauta M, Martinez-Portilla RJ, Meler E, Otaño J, Borrell A. Pauta M, et al. Prenat Diagn. 2023 May;43(5):596-604. doi: 10.1002/pd.6339. Epub 2023 Mar 25. Prenat Diagn. 2023. PMID: 36869857 Free article. Review.
The aim of this study was to determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR). ...A negative CMA or karyotype result was treated as the …
The aim of this study was to determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or …
Amniocentesis and chorionic villus sampling for prenatal diagnosis.
Alfirevic Z, Navaratnam K, Mujezinovic F. Alfirevic Z, et al. Cochrane Database Syst Rev. 2017 Sep 4;9(9):CD003252. doi: 10.1002/14651858.CD003252.pub2. Cochrane Database Syst Rev. 2017. PMID: 28869276 Free PMC article. Review.
Transcervical chorionic villus sampling compared with second trimester amniocentesis may be associated with a higher risk of pregnancy loss, but results were quite heterogeneous.Diagnostic accuracy of different methods could not be assessed adequately because of incomplete kar …
Transcervical chorionic villus sampling compared with second trimester amniocentesis may be associated with a higher risk of pregnancy loss, …
Turner Syndrome Systematic Review: Spontaneous Thelarche and Menarche Stratified by Karyotype.
Dabrowski E, Jensen R, Johnson EK, Habiby RL, Brickman WJ, Finlayson C. Dabrowski E, et al. Horm Res Paediatr. 2019;92(3):143-149. doi: 10.1159/000502902. Epub 2020 Jan 9. Horm Res Paediatr. 2019. PMID: 31918426 Free article.
Data was collected regarding study design, cohort type, cohort age, the number of participants with ST and SM, the individual age at diagnosis of ST and SM, the mean age of patients with ST and SM, sample size, the number of participants with secondary amenorrhea, and karyotyp …
Data was collected regarding study design, cohort type, cohort age, the number of participants with ST and SM, the individual age at diagnos …
Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.
Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F. Badeau M, et al. Cochrane Database Syst Rev. 2017 Nov 10;11(11):CD011767. doi: 10.1002/14651858.CD011767.pub2. Cochrane Database Syst Rev. 2017. PMID: 29125628 Free PMC article. Review.
The gNIPT results were confirmed by a reference standard such as fetal karyotype or neonatal clinical examination. SEARCH METHODS: We searched 13 databases (including MEDLINE, Embase and Web of Science) from 1 January 2007 to 12 July 2016 without any language, search filte …
The gNIPT results were confirmed by a reference standard such as fetal karyotype or neonatal clinical examination. SEARCH METHODS: We …
Tremor and Parkinsonism in Chromosomopathies - A Systematic Review.
Carvalho V, Ferreira JJ, Correia Guedes L. Carvalho V, et al. Mov Disord. 2021 Sep;36(9):2017-2025. doi: 10.1002/mds.28663. Epub 2021 May 31. Mov Disord. 2021. PMID: 34056754 Review.
We searched PubMed for articles published until December 2018, using the non-MESH terms "Chromosomopathy," "karyotype," "chromosome," "aneuploidy," "deletion," "inversion," "insertion," "duplication," and "Parkinson," "Parkinsonism," "Tremor," and "Parkinsonian disorder." …
We searched PubMed for articles published until December 2018, using the non-MESH terms "Chromosomopathy," "karyotype," "chromosome," …
132 results