Korean physicians’ attitudes toward the prenatal screening for fetal aneuploidy and implementation of non-invasive prenatal testing with cell-free fetal DNA

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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Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities

Gynecology Obstetrics and Reproductive Medicine ◽

10.21613/gorm.2020.1081 ◽

2020 ◽

pp. 1

Author(s):

Abhijeet Kumar ◽

Madhusudan Dey ◽

Devendra Arora

Keyword(s):

Diagnostic Tests ◽

Prenatal Screening ◽

Chromosomal Abnormalities ◽

Chorionic Villus ◽

Prenatal Testing ◽

Maternal Serum ◽

Chorionic Villus Sampling ◽

Non Invasive ◽

Fetal Dna ◽

Cell Free Fetal Dna

<p>Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis). Prenatal testing in the past decade is evolving towards non-invasive methods to determine the chromosome abnormality disorders in the fetus without incurring the risk of miscarriage. Conventional tools for prenatal screening included maternal age, maternal serum markers, ultrasound marker (nuchal thickness), and their combinations. With the increased risk of screening test patients were offered diagnostic tests (chorionic villus sampling, amniocentesis, and cordocentesis). After the availability of noninvasive prenatal tests for commercial use in 2011, a great marketing drive is there to establish it as a master tool for prenatal testing. However various society guidelines i.e. ACOG, RCOG, and ISUOG have clearly stated that cell-free fetal DNA based noninvasive prenatal tests is a screening test, not a diagnostic test. In the succeeding paragraph, we will review current trends in the field of cell-free fetal DNA noninvasive prenatal tests and the relevance of invasive testing in the context of noninvasive prenatal tests. Noninvasive prenatal tests does not entirely replace invasive prenatal testing procedures. Positive noninvasive prenatal tests findings must be confirmed by diagnostic tests based on an invasive sample source, mainly chorionic villus sampling or amniocentesis due to false positive and false negative reports of cell-free fetal DNA based tests. Continuing research and development efforts are focused on overriding noninvasive prenatal tests limitations. Recent studies show that procedure-associated risks in the case of prenatal invasive testing are very low as compared to previous studies. Prenatal invasive testing will remain as the backbone of prenatal diagnostic testing until the limitation of noninvasive prenatal tests is overcome.</p>

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Prenatal screening and non-invasive prenatal testing regulation in the Russian Federation

Voprosy ginekologii akušerstva i perinatologii ◽

10.20953/1726-1678-2020-6-124-132 ◽

2020 ◽

Vol 19 (6) ◽

pp. 124-132

Author(s):

A.S. Olenev ◽

◽

E.E. Baranova ◽

O.V. Sagaydak ◽

A.M. Galaktionova ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Russian Federation ◽

Prenatal Screening ◽

Prenatal Testing ◽

High Sensitivity ◽

Chromosomal Anomalies ◽

Non Invasive ◽

Fetal Dna ◽

Cell Free Fetal Dna ◽

The Russian Federation

Congenital malformations, chromosomal and monogenic disease play a significant role in perinatal mortality and child disability. According to the early prenatal screening results in the Russian Federation in 2018, the overall ratio of chromosomal anomaly prevalence is 1:250–1:300. Currently aneuploidy risk is calculated by using indirect biochemical and ultrasound markers, that have low sensitivity and specificity which can cause false positives and false negative results leading to unreasonable invasive procedures or missing chromosomal anomalies. It is well known that cell-free fetal DNA is detected in maternal blood. Whole‐genome sequencing based non-invasive prenatal testing (NIPT) can detect fetal chromosomal aneuploidy with high sensitivity as early as 10 weeks into pregnancy. The accuracy of determining fetal sex is also high: sensitivity and specificity are 98,9% and 99,9% respectively. Implementing molecular technology into clinical practice is required to improve prenatal diagnosis in the Russian Federation, icluding Moscow. Integration of NIPT to analyse cell-free fetal DNA will increase the efficiency of fetal chromosomal anomalies’ detection. However, there are some legal and ethical aspects to consider when integrating a new technology for wide-spread use. This review reveals arguable issues of NIPT integration into widespread clinical practice and possible ways of solving those issues. Key words: NIPT, noninvasive prenatal test, prenatal screening, fetal sex, invasive prenatal diagnosis, X-linked disease, chromosomal anomaly, chromosomal microarray analysis

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Current relevance of non-invasive prenatal study of cell-free fetal DNA in the mother’s blood and prospects for its application in mass screening of pregnant women in the Russian Federation

Journal of obstetrics and women s diseases ◽

10.17816/jowd56573 ◽

2021 ◽

Vol 70 (1) ◽

pp. 19-50

Author(s):

Elena A. Kalashnikova ◽

Andrey S. Glotov ◽

Elena N. Andreyeva ◽

Ilya Yu. Barkov ◽

Galina Yu. Bobrovnik ◽

...

Keyword(s):

Mass Screening ◽

Russian Federation ◽

Prenatal Screening ◽

First Trimester ◽

Screening Programs ◽

Non Invasive ◽

Fetal Dna ◽

Prenatal Diagnostic ◽

Cell Free Fetal Dna ◽

The Russian Federation

This review article offers an analysis of application of cell-free fetal DNA non-invasive prenatal screening test for chromosome abnormalities in the mothers blood in different countries. The diagnostic capacities of the method, its limitations, execution models and ethical aspects pertinent to its application are discussed. The data for the discordant results is shown and analyzed. The advantages of the genome-wide variant of cell-free fetal DNA analysis and the problems concerning its application in the mass screening are described. The main suggestion is to implement the contingent cell-free fetal DNA testing model for the common trisomies (for the chromosomes 21, 18 and 13) into the prenatal diagnostic screening programs in the Russian Federation. This novel model is based on the results of the mass combined first trimester prenatal screening in four federal subjects of the country completed by 2019 and is offered as an additional screening in the mid-level risk group (with cut-off from 1 : 100 to 1 : 500 or from 1 : 100 to 1 : 1000) defined according to the first trimester prenatal screening results. The basic requirements for the implementation of the contingent model in the Russian Federation are stated.

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An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for non-invasive prenatal screening: a feasibility study

Journal of Translational Medicine ◽

10.1186/s12967-019-1871-x ◽

2019 ◽

Vol 17 (1) ◽

Cited By ~ 10

Author(s):

Ping Hu ◽

Dong Liang ◽

Yangyi Chen ◽

Ying Lin ◽

Fengchang Qiao ◽

...

Keyword(s):

Feasibility Study ◽

Prenatal Screening ◽

False Negatives ◽

Enrichment Method ◽

Non Invasive ◽

Fetal Dna ◽

Cell Free Fetal Dna

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Non-Invasive Testing, Non-Invasive Counseling

The Journal of Law Medicine & Ethics ◽

10.1111/jlme.12237 ◽

2015 ◽

Vol 43 (2) ◽

pp. 228-240 ◽

Cited By ~ 2

Author(s):

Rachel Rebouché

Keyword(s):

Chromosomal Abnormalities ◽

Genetic Test ◽

Prenatal Testing ◽

Private Companies ◽

Major Health ◽

Prenatal Health ◽

Non Invasive ◽

Fetal Dna ◽

Cell Free Fetal Dna ◽

A Company

A regulatory moment for prenatal health care is here. An increasing amount of legislative attention has concentrated on the decisions pregnant women make after prenatal testing. The impetus for this legislation is a new non-invasive prenatal genetic test (NIPT). From the beginning of pregnancy, cell-free fetal DNA travels across the placental lining into the mother’s bloodstream, increasing in quantity as the pregnancy progresses. Laboratories can now analyze that DNA for chromosomal abnormalities and for fetal sex at 10 weeks of gestation. NIPT, which relies on a sample of the pregnant woman’s blood, is painless, occurs early in pregnancy, and is available for clinical and commercial use. In 2013, major health insurance plans began to cover NIPT for certain populations of women, such as women over 35 years old. And private companies have started marketing prenatal testing kits directly to consumers, who return a blood sample from the prospective mother to a company laboratory.

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