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Advance in Non-invasive Prenatal Testing: Ten Years of cfDNA-Based Screening...
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Advance in Non-invasive Prenatal Testing: Ten Years of cfDNA-Based Screening and Diagnosis

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Technologies and Resources for Genetics".

Deadline for manuscript submissions: 10 June 2024 | Viewed by 4841

Special Issue Editors

Dr. Luigia De Falco

E-Mail Website
Guest Editor
AMES-Centro Polidiagnostico Strumentale, Srl, 80013 Naples, Italy
Interests: medical genetics; non-invasive prenatal screening; rare diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Erica Soster

E-Mail Website
Guest Editor
Labcorp Women’s Health and Genetics, Westborough, MA 01581, USA
Interests: medical genetics; prenatal screening and diagnosis; non-invasive prenatal screening; confined placental mosaicism
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

The presence of circulating cell-free DNA (cfDNA) from the placenta in maternal circulation was first demonstrated by Lo et al. Since its commercial launch in 2011, cfDNA-based non-invasive prenatal testing (NIPT) has permitted screening for T21, T18, and T13 with high specificity and sensitivity in both high- and low-risk populations. Using genome-wide cfDNA-based screening, all 24 chromosomes can be assessed, and rare fetal autosomal aneuploidies and segmental aneuploidies, such as deletions and duplications, can be revealed. NIPT has also been applied to determine fetal sex, fetal rhesus D (RhD), genotyping, and more recently for the identification of inherited monogenic disorders. This issue will focus on understanding the advances in non-invasive prenatal testing, from chromosome aneuploidies to monogenic disorders.

Dr. Luigia De Falco
Dr. Erica Soster
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • prenatal screening
  • circulating cell-free DNA (cfDNA)
  • non-invasive prenatal testing (NIPT)
  • genome-wide sequencing
  • monogenic diseases

Published Papers (3 papers)

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Research

17 pages, 3292 KiB  
Article
Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory’s Retrospective Experience
by Erica Soster, Brittany Dyr, Samantha Caldwell, Amanda Sussman and Hany Magharyous
Genes 2023, 14(10), 1924; https://doi.org/10.3390/genes14101924 - 10 Oct 2023
Viewed by 1006
Abstract
Prenatal cell-free DNA screening (cfDNA) can identify fetal chromosome abnormalities beyond common trisomies. Emanuel syndrome (ES), caused by an unbalanced translocation between chromosomes 11 and 22, has lacked a reliable prenatal screening option for families with a carrier parent. A cohort of cases [...] Read more.
Prenatal cell-free DNA screening (cfDNA) can identify fetal chromosome abnormalities beyond common trisomies. Emanuel syndrome (ES), caused by an unbalanced translocation between chromosomes 11 and 22, has lacked a reliable prenatal screening option for families with a carrier parent. A cohort of cases (n = 46) sent for cfDNA screening with indications and/or results related to ES was queried; diagnostic testing and pregnancy outcomes were requested and analyzed. No discordant results were reported or suspected; there were ten true positives with diagnostic confirmation, six likely concordant positives based on known translocations and consistent cfDNA data, and twenty-six true negatives, by diagnostic testing or birth outcomes. For cases with parental testing, all affected ES cases had maternal translocation carriers. Expanded cfDNA may provide reassurance for t(11;22) carriers with screen negative results, and screen positive results appear to reflect a likely affected fetus, especially with a known maternal translocation. Current society guidelines support the use of expanded cfDNA screening in specific circumstances, such as for translocation carriers, with appropriate counseling. Diagnostic testing is recommended for prenatal diagnosis of ES and other chromosome abnormalities in pregnancy. To our knowledge, this cohort is the largest published group of cases with prenatal screening for carriers of t(11;22). Full article
(This article belongs to the Special Issue Advance in Non-invasive Prenatal Testing: Ten Years of cfDNA-Based Screening and Diagnosis)
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11 pages, 691 KiB  
Article
Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies
by Luigia De Falco, Giovanni Savarese, Pasquale Savarese, Nadia Petrillo, Monica Ianniello, Raffaella Ruggiero, Teresa Suero, Cosimo Barbato, Alessio Mori, Cristina Ramiro, Luigi Della Corte, Gabriele Saccone, Attilio Di Spiezio Sardo and Antonio Fico
Genes 2023, 14(5), 982; https://doi.org/10.3390/genes14050982 - 26 Apr 2023
Cited by 1 | Viewed by 1540
Abstract
Non-invasive prenatal screening (NIPS) in twin gestations has been shown to have high detection rates and low false-positive rates for trisomy 21, as seen in singleton pregnancies, although there have been few large cohort twin studies, genome-wide studies in particular, to date. In [...] Read more.
Non-invasive prenatal screening (NIPS) in twin gestations has been shown to have high detection rates and low false-positive rates for trisomy 21, as seen in singleton pregnancies, although there have been few large cohort twin studies, genome-wide studies in particular, to date. In this study, we looked at the performance of genome-wide NIPT in a large cohort consisting of 1244 twin pregnancy samples collected over a two-year period in a single laboratory in Italy. All samples underwent an NIPS for common trisomies, with 61.5% of study participants choosing to undergo genome-wide NIPS for additional fetal anomalies (namely, rare autosomal aneuploidies and CNVs). There were nine initial no-call results, all of which were resolved upon retest. Based on our NIPS results, 17 samples were at high risk for trisomy 21, one for trisomy 18, six for a rare autosomal aneuploidy, and four for a CNV. Clinical follow-up was available for 27 out of 29 high-risk cases; a sensitivity of 100%, a specificity of 99.9%, and a PPV of 94.4% were noted for trisomy 21. Clinical follow-up was also available for 1110 (96.6%) of the low-risk cases, all of which were true negatives. In conclusion, we found that NIPS was a reliable screening approach for trisomy 21 in twin pregnancies. Full article
(This article belongs to the Special Issue Advance in Non-invasive Prenatal Testing: Ten Years of cfDNA-Based Screening and Diagnosis)
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11 pages, 263 KiB  
Article
Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies
by Seher Basaran, Recep Has, Ibrahim Halil Kalelioglu, Tugba Sarac Sivrikoz, Birsen Karaman, Melike Kirgiz, Tahir Dehgan, Tugba Kalayci, Bilge Ozsait Selcuk, Peter Miny and Atil Yuksel
Genes 2022, 13(12), 2389; https://doi.org/10.3390/genes13122389 - 16 Dec 2022
Cited by 1 | Viewed by 1494
Abstract
The scope of cell-free DNA (cfDNA) testing was expanded to the genome, which allowed screening for rare chromosome anomalies (RCAs). Since the efficiency of the test for RCAs remains below the common aneuploidies, there is a debate on the usage of expanded tests. [...] Read more.
The scope of cell-free DNA (cfDNA) testing was expanded to the genome, which allowed screening for rare chromosome anomalies (RCAs). Since the efficiency of the test for RCAs remains below the common aneuploidies, there is a debate on the usage of expanded tests. This study focuses on the confirmatory and follow-up data of cases with positive cfDNA testing for RCAs and cases with screen-negative results in a series of 912 consecutive cases that underwent invasive testing following cfDNA testing. Chorion villus sampling (CVS), amniocentesis (AS), fetal blood sampling, and term placenta samples were investigated using classical cytogenetic and molecular cytogenetic techniques. Out of 593 screen-positive results, 504 (85%) were for common aneuploidies, 40 (6.7%) for rare autosomal trisomies (RATs), and 49 (8.3%) for structural chromosome anomalies (SAs). Of the screen-positives for RATs, 20 cases were evaluated only in fetal tissue, and confined placental mosaicism (CPM) could not be excluded. Among cases with definitive results (n = 20), the rates of true positives, placental mosaics, and false positives were 35%, 45%, and 10%, respectively. Among screen-positives for SAs, 32.7% were true positives. The confirmation rate was higher for duplications than deletions (58.3% vs. 29.4%). The rate of chromosomal abnormality was 10.9% in the group of 256 screen-negatives with pathological ultrasound findings. This study provides further data to assess the efficiency of expanded cfDNA testing for RATs and SAs. The test efficiency for cfDNA seems to be higher for duplications than for deletions, which is evidence of the role of expert ultrasound in identifying pregnancies at increased risk for chromosome anomalies, even in pregnancies with screen-negatives. Furthermore, we discussed the efficiency of CVS vs. AC in screen-positives for RATs. Full article
(This article belongs to the Special Issue Advance in Non-invasive Prenatal Testing: Ten Years of cfDNA-Based Screening and Diagnosis)
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