Evidence-based clinical practice guidelines recommend noninvasive prenatal screening for all pregnant women
The American College of Health Genetics and Genomics (ACMG) has released a new Evidence-Based Clinical Practice (EBG) Guide, “Non-invasive prenatal screening for chromosomal abnormalities.” of the fetus in the general-risk population: Evidence-based clinical guidelines from the American College of Medical Genetics and Genomics.”
Non-invasive prenatal screening with cell-free DNA (cfDNA), also known as NIPS, has been included clinical practice in 2011. NIPS includes a blood tests done any time after 10 weeks of pregnancy. By analyzing small fragments of DNA circulating in the mother’s blood that mainly originate in the placenta, this test can be used to detect a number of chromosomal disorders including Down syndrome.
The use of NIPS as an alternative to traditional biochemical and ultrasound-based screening tests has rapidly expanded in recent years, but access to NIPS remains uneven in the United States.
Based on a systematic review of evidence published in May 2022, the new guidelines strongly recommend the use of NIPS instead of traditional screening methods for all singleton pregnancies. and twins, to screen fetuses for trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) as well as fetal sex chromosome abnormalities children (deviation).
This guideline replaces the 2016 ACMG Position Statement, which recommends that all pregnant women have access to NIPS and are known for its superior sensitivity in detecting autosomal recessive chromosomes. meet.
“Our working group was able to make a strong recommendation that NIPS should replace traditional screening for common fetal trisomy for all single or twin pregnancies. This recommendation is supported by a rigorous evidence review conducted by ACMG that demonstrated clear superior screening characteristics of NIPS Jeffrey S. Dungan, MD, FACMG, first author of the new guidelines This is the first professional practice guide based on a thorough analysis of the current literature.
To develop the new guidance, an ACMG working group reviewed the results of a recent Systemic Evidence Review, analyzing the performance, psychosocial impact, and cost-effectiveness of NIPS compared with other methods. traditional screening.
The Evidence-Based Guidelines working group also reviewed additional emerging evidence published following the Systematic Evidence Review, as well as Related information from conference presentations, gray literature (which is content produced outside of traditional publishing and distribution channels), and their own extensive clinical experience with prenatal screening. Recommendations are made based on the quality and certainty of the evidence.
The new guidelines include strong recommendations for clinicians to use NIPS instead of traditional screening methods for all pregnant women desiring such screening. This applies to the trisomy that are common in single and twin pregnancies, as well as to sex chromosome abnormalities in singleton pregnancies. The team c ,6%.
The high accuracy of these tests, as well as the low false-positive rates, mean that fewer pregnant women have to undergo more invasive diagnostic procedures. Furthermore, obtaining reliable results early in pregnancy is a major advantage of NIPS over traditional methods, which require multiple tests and/or ultrasounds during the first two trimesters of pregnancy. period.
The new guidelines also include a conditional recommendation, based on moderately firm evidence, that NIPS for 22q11.2 deletion syndrome, the most common pathogenic copy number variant, be made available to all pregnant women as well.
At this point, ACMG concludes that there are not enough evidence to suggest periodic screening for other copy number variations, which are changes to smaller portions of chromosomes rather than entire chromosomes. ACMG also concluded that there was insufficient evidence to recommend NIPS to identify the rare autosomes—copies of chromosomes other than 13, 18, 21, X or Y. This recommendation is mainly due to the lack of clinical evidence. in contemporary literature.
With the release of this Evidence-Based Clinical Practice Guide, ACMG affirms previously validated advisory principles for NIPS, including providing up-to-date, balanced, and accurate information and advice. Personalized, patient-centered consultation. Pre-test counseling should include a discussion of the optional and screening nature of NIPS and the implications of the results.
Post-test counseling should emphasize minimizing, but not eliminating, the risk of negative results and recommend diagnostic confirmation of NIPS results after a positive test.
Dungan added: “NIPS has been available from a number of clinical laboratories for more than 10 years but is not routinely offered to all pregnant women. One factor behind this is inconsistent coverage. We believe that our new evidence-based guidelines provide a clear and reasonable basis for providing coverage to all pregnant women who choose NIPS.”
The work was published in the journal genetics in medicine.
Jeffrey S. Dungan et al., Non-invasive prenatal screening (NIPS) for fetal chromosomal abnormalities in a general-risk population: An Evidence-Based Clinical Guideline from the University of California American Genetics and Genomics Health (ACMG), genetics in medicine (2022). DOI: 10.1016/j.gim.2022.11.004
Offered by the American College of Medical Genetics and Genomics
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