Publications by authors named "E Pergament"

120 Publications

The origins of aneuploidy research consortium.

Prenat Diagn 2021 Apr 22;41(5):642-646. Epub 2021 Mar 22.

Northwestern Reproductive Genetics, Chicago, Illinois, USA.

The presence of high levels of aneuploidy in oocytes and early embryos and their fate is of considerable scientific and clinical importance. The Origins of Aneuploidy Research Consortium (OARC) was established to promote interdisciplinary communication and collaborative research into this topic. Under the umbrella of OARC, a series of papers has now been published in this Special Issue of Prenatal Diagnosis. Recent studies have transformed the view that aneuploidy is usually attributable to meiotic non-disjunction. The molecular basis for the association between meiotic error and maternal age is becoming understood. The clinical significance of mitotic instability in the earliest cells divisions of the embryo is also becoming clearer. An error in the segregation of one or more whole chromosomes from a parent does not invariably result in a non-viable pregnancy or an abnormal outcome. Epidemiologic data allows an assessment of in utero viability, the effect of maternal age, and secondary factors that may affect aneuploidy prevalence. We advocate careful use of nomenclature and revision of educational materials to more accurately explain the complex and often nuanced mechanisms. OARC plans to hold additional workshops, promote additional publications and offer educational resources.
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http://dx.doi.org/10.1002/pd.5934DOI Listing
April 2021

Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities.

Am J Obstet Gynecol 2016 08 16;215(2):252-3. Epub 2016 Apr 16.

Northwestern Reproductive Genetics, Inc, Department of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern University, Chicago, IL.

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http://dx.doi.org/10.1016/j.ajog.2016.04.012DOI Listing
August 2016

The promise of gene therapy.

Authors:
Eugene Pergament

Curr Opin Obstet Gynecol 2016 Apr;28(2):132-5

aNorthwestern Reproductive Genetics, Inc. bDepartment of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

Purpose Of Review: The promise of gene therapy performed in the preimplantation and prenatal periods of pregnancy is rapidly becoming a reality. New technologies capable of making designed changes in single nucleotides make germline gene therapy possible. The article reviews the ethical and technical challenges of germline gene therapy.

Recent Findings: Clustered regularly interspaced short palindromic repeats and related technologies are capable of deleting and inserting specific DNA sequences in mutated genes so as to correct the targeted DNA. The ability to target specific gene mutations will offer unique opportunities to at risk families, particularly those whose genotypes prevent any chance of a normal pregnancy outcome. Other applications of gene-modifying technologies on gametes, zygotes, and embryos are likely in the near future.

Summary: There will be renewed debates on the potentially controversial applications of these technologies because of their capability to genetically alter the human germline and thereby future generations.
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http://dx.doi.org/10.1097/GCO.0000000000000255DOI Listing
April 2016

Cell-free DNA screening for fetal aneuploidy as a clinical service.

Clin Biochem 2015 Oct 27;48(15):932-41. Epub 2015 Feb 27.

Northwestern Reproductive Genetics, Chicago, IL 60611, USA.

Non-invasive prenatal testing (NIPT) through the analysis of cell free (cf)DNA is revolutionizing prenatal screening for fetal aneuploidy. Current methods used in clinical practice include shotgun massively parallel sequencing (s-MPS); targeted (t-MPS); and an approach that takes advantage of single nucleotide polymorphism (SNP) differences between mother and fetus. Efficacy of cfDNA testing for the common autosomal trisomies far exceeds that of conventional screening. Depending on the methodology used, reasons for discordancy between cfDNA results and fetal karyotype can include true fetal mosaicism, confined placental mosaicism, presence of a maternal karyotype abnormality, insufficient counting due to low fetal fraction, and a vanishing twin. Among the possible cfDNA strategies a Primary test has the highest performance but is expensive, while a Contingent cfDNA test can achieve high performance at a relatively low cost. Practicalities to be considered in the provision of testing include pretest counseling about the scope and accuracy of the testing, the interpretation of results when there is a low fetal fraction and follow-up studies for positive test results. The role of first trimester nuchal translucency measurement and conventional biochemical testing needs to be reassessed in the context of the use of cfDNA.
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http://dx.doi.org/10.1016/j.clinbiochem.2015.02.011DOI Listing
October 2015
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