Literature DB >> 30032162

Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development.

Neeta L Vora1, Lisa Hui2,3,4,5.   

Abstract

Prenatal genetics has evolved over the last decade to include application of new 'omics technologies to improve perinatal care. The clinical utility of these technologies when applied to direct fetal specimens from amniocentesis or chorionic villus sampling is being explored. In this review, we provide an overview of use of prenatal exome sequencing and role in evaluation of the structurally abnormal fetus, potential applications of genome sequencing, and finally, use of transcriptomics to assess placental and fetal well-being.

Entities:  

Keywords:  Exome; Fetus; Genomics; Prenatal; Transcriptome

Mesh：

Year:  2018        PMID： 30032162      PMCID： PMC6123255          DOI： 10.1038/s41436-018-0087-4

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


  70 in total

1.  Prenatal whole genome sequencing: just because we can, should we?

Authors:  Greer Donley; Sara Chandros Hull; Benjamin E Berkman
Journal:  Hastings Cent Rep       Date:  2012-06-20       Impact factor: 2.683

2.  Mapping and quantifying mammalian transcriptomes by RNA-Seq.

Authors:  Ali Mortazavi; Brian A Williams; Kenneth McCue; Lorian Schaeffer; Barbara Wold
Journal:  Nat Methods       Date:  2008-05-30       Impact factor: 28.547

Review 3.  Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.

Authors:  Ahmad N Abou Tayoun; Nancy B Spinner; Heidi L Rehm; Robert C Green; Diana W Bianchi
Journal:  Prenat Diagn       Date:  2017-04-17       Impact factor: 3.050

4.  A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.

Authors:  Asaf Vivante; Nina Mann; Hagith Yonath; Anna-Carina Weiss; Maike Getwan; Michael M Kaminski; Tobias Bohnenpoll; Catherine Teyssier; Jing Chen; Shirlee Shril; Amelie T van der Ven; Hadas Ityel; Johanna Magdalena Schmidt; Eugen Widmeier; Stuart B Bauer; Simone Sanna-Cherchi; Ali G Gharavi; Weining Lu; Daniella Magen; Rachel Shukrun; Richard P Lifton; Velibor Tasic; Horia C Stanescu; Vincent Cavaillès; Robert Kleta; Yair Anikster; Benjamin Dekel; Andreas Kispert; Soeren S Lienkamp; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2017-04-05       Impact factor: 10.121

5.  Chromosomal microarray versus karyotyping for prenatal diagnosis.

Authors:  Ronald J Wapner; Christa Lese Martin; Brynn Levy; Blake C Ballif; Christine M Eng; Julia M Zachary; Melissa Savage; Lawrence D Platt; Daniel Saltzman; William A Grobman; Susan Klugman; Thomas Scholl; Joe Leigh Simpson; Kimberly McCall; Vimla S Aggarwal; Brian Bunke; Odelia Nahum; Ankita Patel; Allen N Lamb; Elizabeth A Thom; Arthur L Beaudet; David H Ledbetter; Lisa G Shaffer; Laird Jackson
Journal:  N Engl J Med       Date:  2012-12-06       Impact factor: 91.245

6.  Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.

Authors:  Carin L Yates; Kristin G Monaghan; Deborah Copenheaver; Kyle Retterer; Julie Scuffins; Cathlin R Kucera; Bethany Friedman; Gabriele Richard; Jane Juusola
Journal:  Genet Med       Date:  2017-04-20       Impact factor: 8.822

7.  Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

Authors:  Zornitza Stark; Deborah Schofield; Khurshid Alam; William Wilson; Nessie Mupfeki; Ivan Macciocca; Rupendra Shrestha; Susan M White; Clara Gaff
Journal:  Genet Med       Date:  2017-01-26       Impact factor: 8.822

8.  Molecular autopsy in maternal-fetal medicine.

Authors:  Hanan E Shamseldin; Wesam Kurdi; Fatima Almusafri; Maha Alnemer; Alya Alkaff; Zeneb Babay; Amal Alhashem; Maha Tulbah; Nada Alsahan; Rubina Khan; Bahauddin Sallout; Elham Al Mardawi; Mohamed Zain Seidahmed; Niema Meriki; Yasser Alsaber; Alya Qari; Ola Khalifa; Wafaa Eyaid; Zuhair Rahbeeni; Ahmed Kurdi; Mais Hashem; Tarfa Alshidi; Eman Al-Obeid; Firdous Abdulwahab; Niema Ibrahim; Nour Ewida; Karen El-Akouri; Mariam Al Mulla; Tawfeg Ben-Omran; Matthias Pergande; Sebahattin Cirak; Saeed Al Tala; Ranad Shaheen; Eissa Faqeih; Fowzan S Alkuraya
Journal:  Genet Med       Date:  2017-07-20       Impact factor: 8.822

9.  Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis.

Authors:  Sayed Mohammad Ebrahim Sahraeian; Marghoob Mohiyuddin; Robert Sebra; Hagen Tilgner; Pegah T Afshar; Kin Fai Au; Narges Bani Asadi; Mark B Gerstein; Wing Hung Wong; Michael P Snyder; Eric Schadt; Hugo Y K Lam
Journal:  Nat Commun       Date:  2017-07-05       Impact factor: 14.919

10.  Integrative analysis of 111 reference human epigenomes.

Authors:  Anshul Kundaje; Wouter Meuleman; Jason Ernst; Misha Bilenky; Angela Yen; Alireza Heravi-Moussavi; Pouya Kheradpour; Zhizhuo Zhang; Jianrong Wang; Michael J Ziller; Viren Amin; John W Whitaker; Matthew D Schultz; Lucas D Ward; Abhishek Sarkar; Gerald Quon; Richard S Sandstrom; Matthew L Eaton; Yi-Chieh Wu; Andreas R Pfenning; Xinchen Wang; Melina Claussnitzer; Yaping Liu; Cristian Coarfa; R Alan Harris; Noam Shoresh; Charles B Epstein; Elizabeta Gjoneska; Danny Leung; Wei Xie; R David Hawkins; Ryan Lister; Chibo Hong; Philippe Gascard; Andrew J Mungall; Richard Moore; Eric Chuah; Angela Tam; Theresa K Canfield; R Scott Hansen; Rajinder Kaul; Peter J Sabo; Mukul S Bansal; Annaick Carles; Jesse R Dixon; Kai-How Farh; Soheil Feizi; Rosa Karlic; Ah-Ram Kim; Ashwinikumar Kulkarni; Daofeng Li; Rebecca Lowdon; GiNell Elliott; Tim R Mercer; Shane J Neph; Vitor Onuchic; Paz Polak; Nisha Rajagopal; Pradipta Ray; Richard C Sallari; Kyle T Siebenthall; Nicholas A Sinnott-Armstrong; Michael Stevens; Robert E Thurman; Jie Wu; Bo Zhang; Xin Zhou; Arthur E Beaudet; Laurie A Boyer; Philip L De Jager; Peggy J Farnham; Susan J Fisher; David Haussler; Steven J M Jones; Wei Li; Marco A Marra; Michael T McManus; Shamil Sunyaev; James A Thomson; Thea D Tlsty; Li-Huei Tsai; Wei Wang; Robert A Waterland; Michael Q Zhang; Lisa H Chadwick; Bradley E Bernstein; Joseph F Costello; Joseph R Ecker; Martin Hirst; Alexander Meissner; Aleksandar Milosavljevic; Bing Ren; John A Stamatoyannopoulos; Ting Wang; Manolis Kellis
Journal:  Nature       Date:  2015-02-19       Impact factor: 69.504
View more
  9 in total

1.  Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Authors:  Mohamed H Al-Hamed; Wesam Kurdi; Rubina Khan; Maha Tulbah; Maha AlNemer; Nada AlSahan; Maisoon AlMugbel; Rafiullah Rafiullah; Mirna Assoum; Dorota Monies; Zeeshan Shah; Zuhair Rahbeeni; Nada Derar; Fahad Hakami; Gawaher Almutairi; Afaf AlOtaibi; Wafaa Ali; Amal AlShammasi; Wardah AlMubarak; Samia AlDawoud; Saja AlAmri; Bashayer Saeed; Hanifa Bukhari; Mohannad Ali; Rana Akili; Laila Alquayt; Samia Hagos; Hadeel Elbardisy; Asma Akilan; Nora Almuhana; Abrar AlKhalifah; Mohamed Abouelhoda; Khushnooda Ramzan; John A Sayer; Faiqa Imtiaz
Journal:  Hum Genet       Date:  2021-12-01       Impact factor: 4.132

Review 2.  Nanostructures in non-invasive prenatal genetic screening.

Authors:  Samira Sadeghi; Mahdi Rahaie; Bita Ostad-Hasanzadeh
Journal:  Biomed Eng Lett       Date:  2021-10-11

3.  Parental motivations for and adaptation to trio-exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis.

Authors:  Asha N Talati; Kelly L Gilmore; Emily E Hardisty; Anne D Lyerly; Christine Rini; Neeta L Vora
Journal:  Prenat Diagn       Date:  2022-02-16       Impact factor: 3.242

Review 4.  The current and future impact of genome-wide sequencing on fetal precision medicine.

Authors:  Riwa Sabbagh; Ignatia B Van den Veyver
Journal:  Hum Genet       Date:  2019-11-21       Impact factor: 4.132

5.  Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.

Authors:  Leandra K Tolusso; Paige Hazelton; Beatrix Wong; Daniel T Swarr
Journal:  Genet Med       Date:  2021-01-13       Impact factor: 8.822

Review 6.  Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.

Authors:  Daniele Guadagnolo; Gioia Mastromoro; Francesca Di Palma; Antonio Pizzuti; Enrica Marchionni
Journal:  Diagnostics (Basel)       Date:  2021-02-02

7.  Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.

Authors:  Reetika Malik Yadav; Maya Gupta; Aparna Dalvi; Umair Ahmed Bargir; Gouri Hule; Snehal Shabrish; Jahnavi Aluri; Manasi Kulkarni; Priyanka Kambli; Ramya Uppuluri; Suresh Seshadri; Sujatha Jagadeesh; Beena Suresh; Jayarekha Raja; Prasad Taur; Sivasankar Malaischamy; Priyanka Ghosh; Shweta Mahalingam; Priya Kadam; Harsha Prasada Lashkari; Parag Tamhankar; Vasundhara Tamhankar; Shilpa Mithbawkar; Sagar Bhattad; Prerna Jhawar; Adinarayan Makam; Vandana Bansal; Malathi Prasad; Geeta Govindaraj; Beena Guhan; Karthik Bharadwaj Tallapaka; Mukesh Desai; Revathi Raj; Manisha Rajan Madkaikar
Journal:  Front Immunol       Date:  2020-12-07       Impact factor: 7.561

Review 8.  A Comprehensive Review of Performance of Next-Generation Sequencing Platforms.

Authors:  Muhammad Tariq Pervez; Mirza Jawad Ul Hasnain; Syed Hassan Abbas; Mahmoud F Moustafa; Naeem Aslam; Syed Shah Muhammad Shah
Journal:  Biomed Res Int       Date:  2022-09-29       Impact factor: 3.246

Review 9.  Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.

Authors:  Gioia Mastromoro; Daniele Guadagnolo; Nader Khaleghi Hashemian; Enrica Marchionni; Alice Traversa; Antonio Pizzuti
Journal:  Diagnostics (Basel)       Date:  2022-02-23
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.