Progress and Challenges in Laboratory-Based Diagnostic and Screening Approaches for Aneuploidy Detection during Pregnancy

2021 ◽  
pp. 247263032110217
Author(s):  
Lindsay Schneider ◽  
Anubhav Tripathi
Keyword(s):  
Sample Collection ◽  
Aneuploidy Screening ◽  
Preimplantation Genetic Testing ◽  
Cellular Division ◽  
Vitro Fertilization ◽  
Genetic Abnormalities ◽  
The Social ◽  
Diagnostic Technologies ◽  
Screening Approaches

Aneuploidy is caused by problems during cellular division and segregation errors during meiosis that lead to an abnormal number of chromosomes and initiate significant genetic abnormalities during pregnancy or the loss of a fetus due to miscarriage. Screening and diagnostic technologies have been developed to detect this genetic condition and provide parents with critical information about their unborn child. In this review, we highlight the complexities of aneuploidy as a disease as well as multiple technological advancements in testing that help to identify aneuploidy at various time points throughout pregnancy. We focus on aneuploidy diagnosis during preimplantation genetic testing that is performed during in vitro fertilization as well as prenatal screening and diagnosis during pregnancy. This review focuses on DNA-based analysis and laboratory techniques for aneuploidy detection through reviewing molecular- and engineering-based technical advancements. We also present key challenges in aneuploidy detection during pregnancy, including sample collection, mosaic embryos, economic factors, and the social implications of this testing. The goal of this review is to synthesize broad information about aneuploidy screening and diagnostic sample collection and analysis during pregnancy and discuss major challenges the field is still facing despite decades of advancements.

scholarly journals Preimplantation genetic testing for aneuploidy in uterus transplant patients

2021 ◽  
Vol 15 ◽  
pp. 263349412110098
Author(s):  
Rhea Chattopadhyay ◽  
Elliott Richards ◽  
Valerie Libby ◽  
Rebecca Flyckt
Keyword(s):  
Genetic Testing ◽  
In Vitro Fertilization ◽  
Immunosuppressive Agents ◽  
Live Birth Rate ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Uterus Transplantation ◽  
Advantages And Disadvantages ◽  
Dilation And Curettage

Uterus transplantation is an emerging treatment for uterine factor infertility. In vitro fertilization with cryopreservation of embryos prior is required before a patient can be listed for transplant. Whether or not to perform universal preimplantation genetic testing for aneuploidy should be addressed by centers considering a uterus transplant program. The advantages and disadvantages of preimplantation genetic testing for aneuploidy in this unique population are presented. The available literature is reviewed to determine the utility of preimplantation genetic testing for aneuploidy in uterus transplantation protocols. Theoretical benefits of preimplantation genetic testing for aneuploidy include decreased time to pregnancy in a population that benefits from minimization of exposure to immunosuppressive agents and decreased chance of spontaneous abortion requiring a dilation and curettage. Drawbacks include increased cost per in vitro fertilization cycle, increased number of required in vitro fertilization cycles to achieve a suitable number of embryos prior to listing for transplant, and a questionable benefit to live birth rate in younger patients. Thoughtful consideration of whether or not to use preimplantation genetic testing for aneuploidy is necessary in uterus transplant trials. Age is likely a primary factor that can be useful in determining which uterus transplant recipients benefit from preimplantation genetic testing for aneuploidy.

scholarly journals Time associations between U.S. birth rates and add-Ons to IVF practice between 2005–2016

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Norbert Gleicher ◽  
Lyka Mochizuki ◽  
David H. Barad
Keyword(s):  
Live Birth ◽  
Outcome Data ◽  
Single Embryo Transfer ◽  
Additional Treatment ◽  
Birth Rates ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Live Births ◽  
Live Birth Rates

AbstractUntil 2010, the National Assisted Reproductive Technology Surveillance System (NASS) report, published annually by the Center for Disease Control and Prevention (CDC), demonstrated almost constantly improving live birth rates following fresh non-donor (fnd) in vitro fertilization (IVF) cycles. Almost unnoticed by profession and public, by 2016 they, however, reached lows not seen since 1996–1997. We here attempted to understand underlying causes for this decline. This study used publicly available IVF outcome data, reported by the CDC annually under Congressional mandate, involving over 90% of U.S. IVF centers and over 95% of U.S. IVF cycles. Years 2005, 2010, 2015 and 2016 served as index years, representing respectively, 27,047, 30,425, 21,771 and 19,137 live births in fnd IVF cycles. Concomitantly, the study associated timelines for introduction of new add-ons to IVF practice with changes in outcomes of fnd IVF cycles. Median female age remained at 36.0 years during the study period and center participation was surprisingly stable, thereby confirming reasonable phenotype stability. Main outcome measures were associations of specific IVF practice changes with declines in live IVF birth rates. Time associations were observed with increased utilization of “all-freeze” cycles (embryo banking), mild ovarian stimulation protocols, preimplantation genetic testing for aneuploidy (PGT-A) and increasing utilization of elective single embryo transfer (eSET). Among all add-ons, PGT-A, likely, affected fndIVF most profoundly. Though associations cannot denote causation, they can be hypothesis-generating. Here presented time-associations are compelling, though some of observed pregnancy and live birth loss may have been compensated by increases in frozen-thawed cycles and consequential pregnancies and live births not shown here. Pregnancies in frozen-thawed cycles, however, represent additional treatment cycles, time delays and additional costs. IVF live birth rates not seen since 1996–1997, and a likely continuous downward trend in U.S. IVF outcomes, therefore, mandate a reversal of current outcome trends, whatever ultimately the causes.

scholarly journals Pericentric inversion (Inv) 9 variant—reproductive risk factor or benign finding?

2019 ◽  
Vol 36 (12) ◽  
pp. 2557-2561 ◽  
Author(s):  
Katrina Merrion ◽  
Melissa Maisenbacher
Keyword(s):  
Genetic Testing ◽  
Pericentric Inversion ◽  
Chromosome Rearrangement ◽  
Cohort Analysis ◽  
Chromosome 9 ◽  
Structural Rearrangements ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Aneuploidy Rate

Abstract Purpose To report the unbalanced chromosome rearrangement rate and overall aneuploidy rate in day 5/6 embryos from a series of patients who underwent in vitro fertilization (IVF) with preimplantation genetic testing for structural rearrangements (PGT-SR) for the pericentric inversion 9 variant, inv(9)(p11q13) or inv(9)(p12q13), with concurrent 24 chromosome preimplantation genetic testing for aneuploidy (PGT-A). Methods This was a retrospective cohort analysis. IVF cycles and embryo biopsies were performed by referring clinics. Fifty-two trophectoderm biopsy samples from seven couples were sent to a single lab for PGT-SR for an inversion 9 variant with concurrent 24 chromosome PGT-A using single-nucleotide polymorphism (SNP) microarrays with bioinformatics. Results The unbalanced rearrangement rate for this embryo cohort was 0/52 (0.0%); mean maternal age per embryo was 33.3 years (range 21–39 years). The overall euploid rate was 61.5% and aneuploidy rate was 38.5%. Conclusions Chromosome 9 pericentric inversions did not result in unbalanced structural rearrangements in day 5/6 embryo samples, supporting that this population variant is not associated with increased reproductive risks.

scholarly journals Polygenic Risk Scoring of Human Embryos: a Qualitative Study of Media Coverage

2021 ◽  
Author(s):  
Tiny Pagnaer ◽  
Maria Siermann ◽  
Pascal Borry ◽  
Olga Tšuiko
Keyword(s):  
Media Coverage ◽  
Well Being ◽  
Reproductive Technologies ◽  
Media Analysis ◽  
Human Embryos ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Polygenic Risk ◽  
Risk Scoring

Abstract Background Current preimplantation genetic testing (PGT) technologies enable embryo genotyping across the whole genome. Consequently, this has led to the development of polygenic risk scoring of human embryos (PGT-P). Recent implementation of PGT-P, including screening for intelligence, has been extensively covered by the media, raising major controversy. Considering the increasing demand for assisted reproduction, we evaluated how information about PGT-P is communicated in press media and explored the diversity of ethical themes present in the public debate.Methods LexisNexis Academic database and Google News were searched to identify articles about polygenic embryo screening. This led to 535 news articles. 59 original articles met the inclusion criteria. Inductive content analysis was used to analyse these articles.Results 8.8% of articles gave embryo polygenic scoring a positive portrayal, while 36.8% expressed a negative attitude. 54.4% were neutral, mostly highlighting limited practical value of the technology in in vitro fertilization (IVF) settings. We identified five main ethical themes that are also present in academic literature and the broader debate on reproductive technologies: a slippery slope towards designer babies, well-being of the child and parents, impact on society, deliberate choice and societal readiness.Conclusions Implementation of embryo polygenic profiling engenders a need for specific recommendations. Current media analysis discloses important ethical themes to consider when creating future guidelines for PGT-P.

THE EFFECT OF OBESITY ON EUPLOIDY RATES IN WOMEN UNDERGOING IN VITRO FERTILIZATION (IVF) WITH PREIMPLANTATION GENETIC TESTING (PGT)

2020 ◽  
Vol 114 (3) ◽  
pp. e106
Author(s):  
Stephanie M. Hallisey ◽  
Reeva B. Makhijani ◽  
Jeffrey Thorne ◽  
Prachi N. Godiwala ◽  
John Nulsen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
In Vitro Fertilization ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Euploidy Rates

scholarly journals New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Tanya Milachich
Keyword(s):  
Genetic Diagnosis ◽  
Noninvasive Testing ◽  
Human Embryos ◽  
Embryonic Cells ◽  
Aneuploidy Screening ◽  
Vitro Fertilization ◽  
Prenatal Genetic Diagnosis ◽  
Polar Bodies ◽  
Comprehensive Chromosome Screening

The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND) require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future.

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