Special Issue "Advance in Prenatal Diagnosis"

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A special issue of Diagnostics (ISSN 2075-4418).

Deadline for manuscript submissions: closed (28 February 2013)

Special Issue Editor

Guest Editor
Prof. Dr. Sinuhe Hahn (Website)

Department of Biomedicine, University Hospital Basel, Hebelstrasse 20, CH - 4031 Basel, Switzerland
Interests: prenatal diagnosis; cell-free DNA; proteomics; pregnancy-related disorders; innate immunology

Special Issue Information

Dear Colleagues,

Prenatal diagnosis has recently seen a transformation on several fronts, facilitated by cutting edge molecular biological developments. On the one hand the advent of next generation sequencing for the analysis of cell-free DNA in maternal plasma has finally permitted the non-invasive determination of fetal genetic disorders such as aneuploidies, with services launched for these tests on a world-wide basis. It also appears that this approach may be useful for the detection of Mendelian disorders such as the hemoglobinopathies, which will be a great benefit to populations with high degrees of carrier incidence.

On the other hand, high density arrays have permitted a degree of diagnostic precision on fetal material gained by invasive means not previously thought possible. The application of next generation sequencing for this purpose may shed new light into the origin and consequence of de novo mutations. In this manner, it may even become possible to detect disorders having complex multifactorial traits, such as paternal contribution to fetal autism.

This special issue will highlight several of these key developments.

Prof. Dr. Sinuhe Hahn
Guest Editor

Submission

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. Papers will be published continuously (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as 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 refereed through a peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed Open Access quarterly 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 300 CHF (Swiss Francs). English correction and/or formatting fees of 250 CHF (Swiss Francs) will be charged in certain cases for those articles accepted for publication that require extensive additional formatting and/or English corrections.

Keywords

  • NIPD (non-invasive prenatal diagnosis)
  • cell-free DNA
  • aneuploidy
  • next generation sequencing
  • array technology

Published Papers (3 papers)

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Research

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Open AccessArticle Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood
Diagnostics 2013, 3(2), 283-290; doi:10.3390/diagnostics3020283
Received: 15 March 2013 / Revised: 26 April 2013 / Accepted: 6 May 2013 / Published: 15 May 2013
Cited by 2 | PDF Full-text (186 KB) | HTML Full-text | XML Full-text
Abstract
Since the discovery of the presence of fetal DNA in maternal blood, non-invasive fetal sex determination has been the test most widely translated into clinical practice. To date there is no agreement between the different laboratories performing such tests in relation to [...] Read more.
Since the discovery of the presence of fetal DNA in maternal blood, non-invasive fetal sex determination has been the test most widely translated into clinical practice. To date there is no agreement between the different laboratories performing such tests in relation to which is the best protocol. As a consequence there are almost as many protocols as laboratories offering the service, using different methodologies and thus obtaining different diagnostic accuracies. By the end of 2007, after a validation study performed in 316 maternal samples collected between the 5th and 12th week of gestation, the fetal sex determination was incorporated into clinical practice in our Service. The test is performed in the first trimester of pregnancy, and it is offered as part of the genetic counseling process for couples at risk of X-linked disorders. As a general rule and in order to avoid misdiagnosis, two samples at different gestational ages are tested per patient. The analysis is performed by the study of the SRY gene by RT-PCR. Two hundred and twenty six pregnancies have been tested so far in these 5 years. Neither false positives nor false negatives diagnoses have been registered, thus giving a diagnostic accuracy of 100%. Full article
(This article belongs to the Special Issue Advance in Prenatal Diagnosis)
Open AccessArticle Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience
Diagnostics 2012, 2(4), 57-71; doi:10.3390/diagnostics2040057
Received: 2 October 2012 / Revised: 31 October 2012 / Accepted: 13 November 2012 / Published: 19 November 2012
Cited by 1 | PDF Full-text (997 KB) | HTML Full-text | XML Full-text
Abstract
Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. Methods: We retrospectively reviewed Down syndrome (DS) screening tests and fetal [...] Read more.
Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. Methods: We retrospectively reviewed Down syndrome (DS) screening tests and fetal karyotypes obtained by prenatal invasive testing (IT) in our fetal medicine unit between January 1999 and December 2011. Results: A total of 24,226 prenatal screening tests for DS and 11,045 invasive procedures have been analyzed. Over a 13-year period, utilization of non-invasive screening methods has significantly increased from 57% to 89%. The percentage of invasive procedures has declined from 49% to 12%, although the percentage of IT performed for maternal anxiety has increased from 22% to 55%. The percentage of detected CA increased from 2.5% to 5.9%. Overall, 31 invasive procedures are needed to diagnose 1 abnormal case, being 23 procedures in medical indications and 241 procedures in non-medical indications. Conclusions: Our experience on screening and invasive prenatal diagnostic practice shows a decrease of the number of IT, with a parallel decline in medical indications. There is an increasing efficiency of prenatal screening program to detect CA. Despite the increasing screening policies, our population shows a growing request for prenatal IT. The a priori low risk population shows a not negligible residual risk for relevant CA. This observation challenges the current prenatal screening strategy focused on DS; showing that the residual risk is higher than the current cut-off used to indicate an invasive technique. Full article
(This article belongs to the Special Issue Advance in Prenatal Diagnosis)
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Review

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Open AccessReview Non-Invasive Screening Tools for Down’s Syndrome: A Review
Diagnostics 2013, 3(2), 291-314; doi:10.3390/diagnostics3020291
Received: 10 April 2013 / Revised: 14 May 2013 / Accepted: 16 May 2013 / Published: 31 May 2013
Cited by 1 | PDF Full-text (628 KB) | HTML Full-text | XML Full-text
Abstract
Down’s syndrome (DS) is the most common genetic cause of developmental delay with an incidence of 1 in 800 live births, and is the predominant reason why women choose to undergo invasive prenatal diagnosis. However, as invasive tests are associated with around [...] Read more.
Down’s syndrome (DS) is the most common genetic cause of developmental delay with an incidence of 1 in 800 live births, and is the predominant reason why women choose to undergo invasive prenatal diagnosis. However, as invasive tests are associated with around a 1% risk of miscarriage new non-invasive tests have been long sought after. Recently, the most promising approach for non-invasive prenatal diagnosis (NIPD) has been provided by the introduction of next generation sequencing (NGS) technologies. The clinical application of NIPD for DS detection is not yet applicable, as large scale validation studies in low-risk pregnancies need to be completed. Currently, prenatal screening is still the first line test for the detection of fetal aneuploidy. Screening cannot diagnose DS, but developing a more advanced screening program can help to improve detection rates, and therefore reduce the number of women offered invasive tests. This article describes how the prenatal screening program has developed since the introduction of maternal age as the original “screening” test, and subsequently discusses recent advances in detecting new screening markers with reference to both proteomic and bioinformatic techniques. Full article
(This article belongs to the Special Issue Advance in Prenatal Diagnosis)

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