Literature DB >> 33374411

Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges.

Luigi Carbone1, Federica Cariati2,3, Laura Sarno1, Alessandro Conforti1, Francesca Bagnulo3, Ida Strina1,3, Lucio Pastore2,4, Giuseppe Maria Maruotti1, Carlo Alviggi1,3,5.   

Abstract

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

Entities:  

Keywords:  cell-free fetal DNA; fetal aneuploidies; fetal fraction; non-invasive prenatal testing; prenatal screening

Mesh:

Substances:

Year:  2020        PMID: 33374411      PMCID: PMC7824607          DOI: 10.3390/genes12010015

Source DB:  PubMed          Journal:  Genes (Basel)        ISSN: 2073-4425            Impact factor:   4.096


  98 in total

1.  Pregnancy: Prepare for unexpected prenatal test results.

Authors:  Diana W Bianchi
Journal:  Nature       Date:  2015-06-04       Impact factor: 49.962

Review 2.  Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012.

Authors:  E Mersy; L J M Smits; L A A P van Winden; C E M de Die-Smulders; A D C Paulussen; M V E Macville; A B C Coumans; S G M Frints
Journal:  Hum Reprod Update       Date:  2013-02-08       Impact factor: 15.610

3.  Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma.

Authors:  Eric Wang; Annette Batey; Craig Struble; Thomas Musci; Ken Song; Arnold Oliphant
Journal:  Prenat Diagn       Date:  2013-05-09       Impact factor: 3.050

4.  Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis.

Authors:  M M Gil; R Akolekar; M S Quezada; B Bregant; K H Nicolaides
Journal:  Fetal Diagn Ther       Date:  2014       Impact factor: 2.587

5.  Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy.

Authors:  L Sarno; R Revello; E Hanson; R Akolekar; K H Nicolaides
Journal:  Ultrasound Obstet Gynecol       Date:  2016-04-27       Impact factor: 7.299

6.  ESHRE PGT Consortium data collection XVI-XVIII: cycles from 2013 to 2015.

Authors:  E Coonen; A van Montfoort; F Carvalho; G Kokkali; C Moutou; C Rubio; M De Rycke; V Goossens
Journal:  Hum Reprod Open       Date:  2020-10-03

Review 7.  Amniocentesis and chorionic villus sampling for prenatal diagnosis.

Authors:  Zarko Alfirevic; Kate Navaratnam; Faris Mujezinovic
Journal:  Cochrane Database Syst Rev       Date:  2017-09-04

8.  Rapid clearance of fetal DNA from maternal plasma.

Authors:  Y M Lo; J Zhang; T N Leung; T K Lau; A M Chang; N M Hjelm
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

9.  Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results.

Authors:  Francesca R Grati; Francesca Malvestiti; Jose C P B Ferreira; Komal Bajaj; Elisa Gaetani; Cristina Agrati; Beatrice Grimi; Francesca Dulcetti; Anna M Ruggeri; Simona De Toffol; Federico Maggi; Ronald Wapner; Susan Gross; Giuseppe Simoni
Journal:  Genet Med       Date:  2014-02-13       Impact factor: 8.822

10.  Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins.

Authors:  Sebastian Grömminger; Erbil Yagmur; Sanli Erkan; Sándor Nagy; Ulrike Schöck; Joachim Bonnet; Patricia Smerdka; Mathias Ehrich; Rolf-Dieter Wegner; Wera Hofmann; Markus Stumm
Journal:  J Clin Med       Date:  2014-06-25       Impact factor: 4.241

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  8 in total

1.  Invasive prenatal diagnosis during COVID-19 pandemic.

Authors:  Giuseppe Rizzo; Giuseppe Maria Maruotti; Luigi Carbone; Antonio Raffone; Laura Sarno; Antonio Travaglino; Gabriele Saccone; Olimpia Gabrielli; Sonia Migliorini; Angelo Sirico; Rita Genesio; Giuseppe Castaldo; Alessandra Capponi; Fulvio Zullo
Journal:  Arch Gynecol Obstet       Date:  2021-10-07       Impact factor: 2.493

2.  Genetics and Genomics of Reproductive Medicine.

Authors:  Rossella Tomaiuolo
Journal:  Genes (Basel)       Date:  2021-10-14       Impact factor: 4.096

Review 3.  Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review.

Authors:  Luca Zaninović; Marko Bašković; Davor Ježek; Ana Katušić Bojanac
Journal:  J Clin Med       Date:  2022-06-10       Impact factor: 4.964

4.  Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening.

Authors:  Junjie Hu; Kai Yan; Pengzhen Jin; Yanmei Yang; Yixi Sun; Minyue Dong
Journal:  Mol Cytogenet       Date:  2022-09-01       Impact factor: 1.904

Review 5.  Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review.

Authors:  Syahirah Amnani Suhaimi; Ihsan Nazurah Zulkipli; Hazim Ghani; Mas Rina Wati Abdul-Hamid
Journal:  Front Pediatr       Date:  2022-09-29       Impact factor: 3.569

Review 6.  Global Trends in Research on Cell-Free Nucleic Acids in Obstetrics and Gynecology during 2017-2021.

Authors:  Wenyan Gao; Hongyue Yang; Wanting Cheng; Xiao Wang; Da Li; Bei Shi
Journal:  J Clin Med       Date:  2022-09-22       Impact factor: 4.964

7.  Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.

Authors:  Alisa Morshneva; Polina Kozyulina; Elena Vashukova; Olga Tarasenko; Natalia Dvoynova; Anastasia Chentsova; Olga Talantova; Alexander Koroteev; Dmitrii Ivanov; Elena Serebryakova; Tatyana Ivashchenko; Aitalina Sukhomyasova; Nadezhda Maksimova; Olesya Bespalova; Igor Kogan; Vladislav Baranov; Andrey Glotov
Journal:  Genes (Basel)       Date:  2021-05-14       Impact factor: 4.096

8.  Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.

Authors:  Luigia De Falco; Carmelo Piscopo; Rossana D'Angelo; Eloisa Evangelista; Teresa Suero; Roberto Sirica; Raffaella Ruggiero; Giovanni Savarese; Antonella Di Carlo; Giulia Furino; Ciro Scarpato; Antonio Fico
Journal:  Genes (Basel)       Date:  2021-11-25       Impact factor: 4.096

  8 in total

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