Most notably, in 2015, ACOG and SMFM published an opinion piece that states: “Given the performance of conventional screening methods and the limitations of cfDNA, conventional screening methods (i.e. ![]() But, there has not been agreement as to whether this screen should be offered initially to all patients or if it should only be offered to women with the highest probability of certain chromosome conditions in a pregnancy. The majority of organizations have indicated that the option of cfDNA screening should be at least reviewed with patients. Numerous organizations have published guidelines and commentary regarding the use of cfDNA screening - particularly in respect to who should be offered this screening and what conditions should be included. This is important as the availability and uptake in cfDNA screening over the years has been largely due to commercialization with major sales initiatives from the cfDNA laboratories. However, much of this research has been driven by the commercial laboratories that sell these cfDNA tests. Since that time there have been larger studies within more general populations along with multiple meta-analyses (reviews of the varying data sets). The initial research and validation studies used to introduce cfDNA screening and used to expand the conditions screened were done in high risk populations (e.g. And now, depending on the testing laboratory and platform used, additional chromosomal and genetic conditions may be included. Initially, cfDNA screening was used to screen for Down syndrome, with trisomy 18, trisomy 13 and analysis of the sex chromosomes for fetal sex prediction and sex chromosome variations was added soon thereafte. (For more detailed information about these screens and tests you can check out our videos here).Ĭell-free DNA screening was introduced into clinical care in 2011. These options and what is included have evolved over the years, with the newest being cfDNA screening. first trimester screen, quadruple marker screen – “quad” screen, combined, integrated, or sequential screen), or analysis of cell-free DNA (cfDNA, also called non-invasive prenatal screening or testing, NIPS or NIPT).ĭiagnostic testing involves genetic testing on samples obtained from the pregnancy via chorionic villus sampling (CVS) or amniocentesis. nuchal translucency, detailed anatomy scan), measurement of maternal serum analytes (e.g. Prenatal screening and diagnostic testing for chromosomal conditions has been available for several decades. In the context of pregnancy, these changes to the chromosomes can lead to pregnancy loss, or a baby with a chromosomal condition which may be associated with variable health concerns, developmental delays and intellectual disabilities. This may include extra or missing copies (aneuploidy), missing or extra pieces (deletions or duplications, also called copy number variations), or rearrangements (such as translocations). ![]() The updated recommendations replace a practice bulletin about the same topic published in 2016 and reaffirmed in 2018 (Practice Bulletin Number 163, PB 163).Ĭhromosomal conditions refer to changes in the number and structure of the chromosomes. It is also referred to as Practice Bulletin Number 226 (PB 226). The practice bulletin released in October 2020 by ACOG and SMFM is titled “Screening for Fetal Chromosomal Abnormalities”. These practice bulletins are not only used by providers but also testing labs and insurance companies to help determine what to offer and what may be considered a covered service. A practice bulletin provides a review of current knowledge on techniques and clinical management along with practice guidelines (recommendations) that are relevant for obstetrical and gynecological care. Let’s start with, who are these organizations and what is a practice bulletin? ACOG and SMFM are organizations for obstetrician-gynecologists (OB/GYNs), other physicians and providers (such as genetic counselors), and scientists who focus on the care of female reproductive systems and improving the outcomes for mothers and children before, during, and after pregnancy. You may ask, why is this important? Why or how does this impact me? ![]() In October 2020 the American College of Obstetricians and Gynecologists (ACOG) and the Society of Maternal Fetal Medicine (SMFM) released an updated practice bulletin regarding genetic screening and testing for chromosomal abnormalities during pregnancy.
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