Personalized medicine for the embryo and the fetus – Options in modern genetics influence preconception and prenatal choices

Ingerslev, Hans Jakob; Kesmodel, Ulrik Schiøler; Jacobsson, Bo; Vogel, Ida

doi:10.1111/aogs.13882

Cited by 4 publications

(1 citation statement)

References 10 publications

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“…The entire genome and mutational status have been sequenced from fetal cfDNA, and some fetal single‐gene mutations have already been diagnosed using fetal cfDNA [94]. The advancements in assisted reproductive techniques have now made it possible to check the genetics of a 5‐day‐old embryo before the embryo is transferred to the mother—preimplantation genetic diagnosis [95]. Many more applications for noninvasive fetal screening, including targeting monogenic forms of complex disease, are expected in the future.…”

Section: Fetal Precision Medicinementioning

confidence: 99%

Precision medicine in complex diseases—Molecular subgrouping for improved prediction and treatment stratification

et al. 2023

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Complex diseases are caused by a combination of genetic, lifestyle, and environmental factors and comprise common noncommunicable diseases, including allergies, cardiovascular disease, and psychiatric and metabolic disorders. More than 25% of Europeans suffer from a complex disease, and together these diseases account for 70% of all deaths. The use of genomic, molecular, or imaging data to develop accurate diagnostic tools for treatment recommendations and preventive strategies, and for disease prognosis and prediction, is an important step toward precision medicine. However, for complex diseases, precision medicine is associated with several challenges. There is a significant heterogeneity between patients of a specific disease—both with regards to symptoms and underlying causal mechanisms—and the number of underlying genetic and nongenetic risk factors is often high. Here, we summarize precision medicine approaches for complex diseases and highlight the current breakthroughs as well as the challenges. We conclude that genomic‐based precision medicine has been used mainly for patients with highly penetrant monogenic disease forms, such as cardiomyopathies. However, for most complex diseases—including psychiatric disorders and allergies—available polygenic risk scores are more probabilistic than deterministic and have not yet been validated for clinical utility. However, subclassifying patients of a specific disease into discrete homogenous subtypes based on molecular or phenotypic data is a promising strategy for improving diagnosis, prediction, treatment, prevention, and prognosis. The availability of high‐throughput molecular technologies, together with large collections of health data and novel data‐driven approaches, offers promise toward improved individual health through precision medicine.

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Section: Fetal Precision Medicinementioning

confidence: 99%

Precision medicine in complex diseases—Molecular subgrouping for improved prediction and treatment stratification

et al. 2023

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Non-invasive prenatal testing: a revolutionary journey in prenatal testing

Abedalthagafi,

Bawazeer,

Fawaz

et al. 2023

Front. Med.

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Non-invasive prenatal testing (NIPT) is a pioneering technique that has consistently advanced the field of prenatal testing to detect genetic abnormalities and conditions with the aim of decreasing the incidence and prevalence of inherited conditions. NIPT remains a method of choice for common autosomal aneuploidies, mostly trisomy 21, and several monogenic disorders. The advancements in gene sequencing techniques have expanded the panel of conditions where NIPT could be offered. However, basic research on the impact of several genetic conditions lags behind the methods of detection of these sequence aberrations, and the impact of the expansion of NIPT should be carefully considered based on its utility. With interest from commercial diagnostics and a lack of regulatory oversight, there remains a need for careful validation of the predictive values of different tests offered. NIPT comes with many challenges, including ethical and economic issues. The scientific evidence, technical feasibility, and clinical benefit of NIPT need to be carefully investigated before new tests and developments are translated into clinical practice. Moreover, the implementation of panel expansion of NIPT should accompany expert genetic counseling pre- and post-testing.

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Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Carbone

Cariati

Sarno

et al. 2020

Genes

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Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

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Personalized medicine for the embryo and the fetus – Options in modern genetics influence preconception and prenatal choices

Cited by 4 publications

References 10 publications

Precision medicine in complex diseases—Molecular subgrouping for improved prediction and treatment stratification

Precision medicine in complex diseases—Molecular subgrouping for improved prediction and treatment stratification

Non-invasive prenatal testing: a revolutionary journey in prenatal testing

Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

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