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Prenatal Genetic Screening and Diagnosis-Part 1
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Prenatal Genetic Screening and Diagnosis-Part 1

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Obstetrics & Gynecology".

Deadline for manuscript submissions: closed (20 February 2014) | Viewed by 67362

Special Issue Editors

Prof. Dr. Peter Benn

E-Mail Website
Guest Editor
Department of Genetics and Developmental Biology, University of Connecticut Health Center, 263 Farmington Avenue, L1049, Farmington, CT 06030-3808, USA
Interests: prenatal screening and diagnosis; non-invasive prenatal testing; cytogenetics; microarray; pregnancy biomarkers
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Eugene Pergament

E-Mail Website
Guest Editor
Northwestern Reproductive Genetics, ReproGenetics Research and Department of Obstetrics and Gynecology, School of Medicine, Northwestern University, 680 North Lake Shore Drive, Suite 1230, Chicago, IL 60611, USA
Interests: prenatal screening and diagnosis; genetic counseling; carrier screening; non-invasive prenatal screening
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

For the past five decades, there has been an increasing pace of progress in screening and diagnosis of genetic disorders in the fetus. Biochemical tests on maternal serum and ultrasound identification of fetal abnormalities and biomarkers currently provide the basis for identifying high-risk pregnancies. The ability to analyze cell-free DNA in maternal plasma now provides the opportunity to further test for fetal aneuploidy and some single gene disorders. Definitive diagnosis still requires invasive sampling methods (amniocentesis and chorionic villus sampling) but this testing has been substantially enhanced through the addition of chromosome and single nucleotide polymorphism (SNP) microarrays so that now small copy number changes (microdeltions/microduplications) can be reliably detected. Pre-implementation genetic testing has also benefited from the application of advances in molecular genetics with an expanded number of mutations and imbalances identifiable in embryos. In the near future, it is expected that DNA sequencing will provide unprecedented levels of information about the fetal genome in regard to form (physical structure) and function (behavior). How these technical advances will be introduced into obstetric care raises significant ethical, legal and moral challenges and clinical services will likely vary considerably in different healthcare settings.

This Special Issue compiles articles that reflect the current state-of-the-art and are also indicative of some of the anticipated advances in prenatal screening and diagnosis.

Prof. Dr. Peter Benn
Prof. Dr. Eugene Pergament
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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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
  • maternal serum
  • ultrasound
  • non-invasive testing
  • microarray
  • aneuploidy
  • genetic disorders
  • pre-implantation

Published Papers (7 papers)

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57 KiB  
Article
The Future of Prenatal Diagnosis and Screening
by Eugene Pergament
J. Clin. Med. 2014, 3(4), 1291-1301; https://doi.org/10.3390/jcm3041291 - 14 Nov 2014
Cited by 6 | Viewed by 5473
Abstract
The future of prenatal diagnosis and screening lies in developing clinical approaches and laboratory technologies applicable to genetic analyses and therapeutic interventions during embryonic development. Full article
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 1)

Review

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162 KiB  
Review
The Legal Past, Present and Future of Prenatal Genetic Testing: Professional Liability and Other Legal Challenges Affecting Patient Access to Services
by Deborah Pergament and Katie Ilijic
J. Clin. Med. 2014, 3(4), 1437-1465; https://doi.org/10.3390/jcm3041437 - 15 Dec 2014
Cited by 12 | Viewed by 8076
Abstract
This chapter is an overview of the current status of the law in the United States regarding prenatal genetic testing with an emphasis on issues related to professional liability and other challenges affecting patient access to prenatal genetic testing. The chapter discusses the [...] Read more.
This chapter is an overview of the current status of the law in the United States regarding prenatal genetic testing with an emphasis on issues related to professional liability and other challenges affecting patient access to prenatal genetic testing. The chapter discusses the roles that federal regulations, promulgated by the Centers for Medicare and Medicaid Services (CMS), the Food and Drug Administration (FDA) and the Federal Trade Commission (FTC), play in the regulation of prenatal genetic tests. The chapter discusses tort litigation based on allegations of malpractice in the provision of prenatal genetic testing and how courts have analyzed issues related to causation, damages and mitigation of damages. The chapter provides reference information regarding how individual states address causes of action under the tort theories of wrongful birth and wrongful life. The chapter concludes with a discussion of future legal issues that may affect clinical prenatal genetic testing services arising from the continued expansion of prenatal genetic testing, legal restrictions on access to abortion and the potential development of embryonic treatments. Full article
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 1)
663 KiB  
Review
First Trimester Ultrasound in Prenatal Diagnosis—Part of the Turning Pyramid of Prenatal Care
by Ran Neiger
J. Clin. Med. 2014, 3(3), 986-996; https://doi.org/10.3390/jcm3030986 - 05 Sep 2014
Cited by 8 | Viewed by 8891
Abstract
First-trimester sonographic assessment of the risk of chromosomal abnormalities is routinely performed throughout the world, primarily by measuring fetal nuchal translucency thickness between 11–13 weeks’ gestation, combined with assessment of serum markers. The development of high-frequency transvaginal transducers has led to improved ultrasound [...] Read more.
First-trimester sonographic assessment of the risk of chromosomal abnormalities is routinely performed throughout the world, primarily by measuring fetal nuchal translucency thickness between 11–13 weeks’ gestation, combined with assessment of serum markers. The development of high-frequency transvaginal transducers has led to improved ultrasound resolution and better visualization of fetal anatomy during the first-trimester. Continuous improvement in ultrasound technology allows a thorough detailed assessment of fetal anatomy at the time of the nuchal translucency study. Using transabdominal or transvaginal sonography, or a combination of both approaches, it is now possible to diagnose a wide range of fetal anomalies during the first trimester. Multiple studies reported early diagnosis of major fetal anomalies after demonstrating the association of increased nuchal translucency thickness with structural defect in chromosomally normal and abnormal fetuses. Normal sonographic findings provide reassurance for women at high risk while detection of fetal malformation during the first trimester enables discussion and decisions about possible treatments and interventions, including termination of pregnancy, during an early stage of pregnancy. Full article
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 1)
836 KiB  
Review
Fetal Cell Based Prenatal Diagnosis: Perspectives on the Present and Future
by Morris Fiddler
J. Clin. Med. 2014, 3(3), 972-985; https://doi.org/10.3390/jcm3030972 - 05 Sep 2014
Cited by 23 | Viewed by 6805
Abstract
The ability to capture and analyze fetal cells from maternal circulation or other sources during pregnancy has been a goal of prenatal diagnostics for over thirty years. The vision of replacing invasive prenatal diagnostic procedures with the prospect of having the entire fetal [...] Read more.
The ability to capture and analyze fetal cells from maternal circulation or other sources during pregnancy has been a goal of prenatal diagnostics for over thirty years. The vision of replacing invasive prenatal diagnostic procedures with the prospect of having the entire fetal genome in hand non-invasively for chromosomal and molecular studies for both clinical and research use has brought many investigators and innovations into the effort. While the object of this desire, however, has remained elusive, the aspiration for this approach to non-invasive prenatal diagnosis remains and the inquiry has continued. With the advent of screening by cell-free DNA analysis, the standards for fetal cell based prenatal diagnostics have been sharpened. Relevant aspects of the history and the current status of investigations to meet the goal of having an accessible and reliable strategy for capturing and analyzing fetal cells during pregnancy are reviewed. Full article
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 1)
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306 KiB  
Review
Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects
by Peter Benn
J. Clin. Med. 2014, 3(2), 537-565; https://doi.org/10.3390/jcm3020537 - 21 May 2014
Cited by 34 | Viewed by 13354
Abstract
Recent advances in molecular genetic technologies have facilitated non-invasive prenatal testing (NIPT) through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be used to identify monogenic disorders including the identification of autosomal recessive disorders where the maternally inherited mutation needs [...] Read more.
Recent advances in molecular genetic technologies have facilitated non-invasive prenatal testing (NIPT) through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be used to identify monogenic disorders including the identification of autosomal recessive disorders where the maternally inherited mutation needs to be identified in the presence of an excess of maternal DNA that contains the same mutation. In the future, simultaneous screening for multiple monogenic disorders is anticipated. Several NIPT methods have been developed to screen for trisomy. These have been shown to be effective for fetal trisomy 21, 18 and 13. Although the testing has been extended to sex chromosome aneuploidy, robust estimates of the efficacy are not yet available and maternal mosaicism for gain or loss of an X-chromosome needs to be considered. Using methods based on the analysis of single nucleotide polymorphisms, diandric triploidy can be identified. NIPT is being developed to identify a number of microdeletion syndromes including α-globin gene deletion. NIPT is a profoundly important development in prenatal care that is substantially advancing the individual patient and public health benefits achieved through conventional prenatal screening and diagnosis. Full article
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 1)
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221 KiB  
Review
Prenatal Screening Using Maternal Markers
by Howard Cuckle
J. Clin. Med. 2014, 3(2), 504-520; https://doi.org/10.3390/jcm3020504 - 09 May 2014
Cited by 11 | Viewed by 7506
Abstract
Maternal markers are widely used to screen for fetal neural tube defects (NTDs), chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have [...] Read more.
Maternal markers are widely used to screen for fetal neural tube defects (NTDs), chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application in public health settings, it can be cost-effective when used in combination with existing multi-maker marker tests. The established screening methods can be readily applied in the first trimester to identify pregnancies at high risk of pre-eclampsia and offer prevention though aspirin treatment. Prenatal screening for fragile X syndrome might be adopted more widely if the test was to be framed as a form of maternal marker screening. Full article
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 1)
673 KiB  
Review
Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential
by Harvey J. Stern
J. Clin. Med. 2014, 3(1), 280-309; https://doi.org/10.3390/jcm3010280 - 17 Mar 2014
Cited by 31 | Viewed by 16481
Abstract
Preimplantation genetic diagnosis was developed nearly a quarter-century ago as an alternative form of prenatal diagnosis that is carried out on embryos. Initially offered for diagnosis in couples at-risk for single gene genetic disorders, such as cystic fibrosis, spinal muscular atrophy and Huntington [...] Read more.
Preimplantation genetic diagnosis was developed nearly a quarter-century ago as an alternative form of prenatal diagnosis that is carried out on embryos. Initially offered for diagnosis in couples at-risk for single gene genetic disorders, such as cystic fibrosis, spinal muscular atrophy and Huntington disease, preimplantation genetic diagnosis (PGD) has most frequently been employed in assisted reproduction for detection of chromosome aneuploidy from advancing maternal age or structural chromosome rearrangements. Major improvements have been seen in PGD analysis with movement away from older, less effective technologies, such as fluorescence in situ hybridization (FISH), to newer molecular tools, such as DNA microarrays and next generation sequencing. Improved results have also started to be seen with decreasing use of Day 3 blastomere biopsy in favor of polar body or Day 5 trophectoderm biopsy. Discussions regarding the scientific, ethical, legal and social issues surrounding the use of sequence data from embryo biopsy have begun and must continue to avoid concern regarding eugenic or inappropriate use of this technology. Full article
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 1)
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