The purpose of this document is to 1) present and evaluate the best available evidence for the use of ultrasonographic and serum markers for selected aneuploidy screening in pregnancy and 2) offer practical recommendations for implementing Down syndrome screening in practice. doi: 10.1097/AOG.0000000000001406. It is important that obstetric care professionals be prepared to discuss not only the risk of fetal chromosomal abnormalities but also the relative benefits and limitations of the available screening and diagnostic tests. Prenatal testing for chromosomal abnormalities is designed to provide an accurate assessment of a patient's risk of carrying a fetus with a chromosomal disorder. 163: Screening for Fetal Aneuploidy. Evaluation of prenatally diagnosed structural congenital anomalies. Genetic Counseling for Patients Considering Screening and Diagnosis for Chromosomal Abnormalities. 163 Summary: Screening for Fetal Aneuploidy. COVID-19 is an emerging, rapidly evolving situation. 2011 Jul;33(7):736-750. doi: 10.1016/S1701-2163(16)34961-1. J Obstet Gynaecol Can. A wide variety of prenatal screening and diagnostic tests are available; each offers varying levels of information and performance, and each has relative advantages and limitations.  |   |  Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. Clin Lab Med. Prenat Diagn. 2017 Jul 1;10(7):7962-7967. eCollection 2017. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. Chromosomal Abnormalities in Second‐Trimester Pregnancies Based on Maternal Age at Term, Table 2. Maternal serum analyte screening for fetal aneuploidy. 2002 Apr;22(4):296-307. doi: 10.1002/pd.307. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. 2020 Jun 5;14(1):21. doi: 10.1186/s40246-020-00268-2. Developed with members’, physicians’, and women’s health care professionals’ needs in mind, user-friendly features include: You’ll find clinical content written and peer reviewed by experts and valuable information that spans guidance on the diagnosis and management of the full spectrum of obstetric and gynecological conditions and clinical management issues. Epub 2019 Dec 2.  |  77: Screening for Fetal Chromosomal Abnormalities Obstetrics & Gynecology: January 2007 - Volume 109 - Issue 1 - p 217-228 ACOG Publications For information regarding prenatal diagnostic testing for genetic disorders, refer to Practice Bulletin No. 2020 Jan;40(2):185-190. doi: 10.1002/pd.5583. Epub 2014 Jul 2. Obstet Gynecol. American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics. Testing for chromosomal abnormalities should be an informed patient choice based on provision of adequate and accurate information, the patient’s clinical context, accessible health care resources, values, interests, and goals. For information regarding carrier screening for genetic conditions, refer to Committee Opinion No. Prenat Diagn. Wang Y, Bao J, Zhang L, Li Y, Zhang Y, Yin L. Int J Clin Exp Pathol. Table 1. USA.gov. J Obstet Gynaecol Can. 162, Prenatal Diagnostic Testing for Genetic Disorders. 690, Carrier Screening in the Age of Genomic Medicine and Committee Opinion No. This content is only available to members and subscribers. Clin Obstet Gynecol. 2016 Jun;36(2):227-36. doi: 10.1016/j.cll.2016.01.005. This Practice Bulletin has been revised to further clarify methods of screening for fetal chromosomal abnormalities, including expanded information regarding the use of cell-free DNA in all patients regardless of maternal age or baseline risk, and to add guidance related to patient counseling. 693, Counseling About Genetic Testing and Communication of Genetic Test Results. Heidari R, Akbariqomi M, Motevaseli E, Omrani MD, Kooshki H, Shamshiri AR, Shafei S, Absalan M, Mazlomi MA, Saleh Gargari S, Tavoosidana G. J Family Reprod Health. NIH | Terms and Conditions of Use. Practice Bulletin No. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin Summary, Number 226. For information regarding carrier screening for genetic conditions, refer to Committee Opinion No. Liu Y, Liu H, He Y, Xu W, Ma Q, He Y, Lei W, Chen G, He Z, Huang J, Liu J, Liu Y, Huang Q, Yu F. Hum Genomics. Obstet Gynecol. Read terms. 691, Carrier Screening for Genetic Conditions. Berger VK, Norton ME, Sparks TN, Flessel M, Baer RJ, Currier RJ. This Practice Bulletin has been revised to further clarify methods of screening for fetal chromosomal abnormalities, including expanded information regarding the use of cell-free DNA in all patients regardless of maternal age or baseline risk, and to add guidance related to patient counseling. Individual subscriptions include print and online access. COVID-19 is an emerging, rapidly evolving situation. HHS A wide variety of prenatal screening and diagnostic tests are available; each offers varying levels of information and performance, and each has relative advantages and limitations. 2016 May;127(5):e123-37. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. Committee on Practice Bulletins—Obstetrics, Committee on Genetics, and the Society for Maternal-Fetal Medicine. Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. ACOG Practice Bulletin No. Subscribe today. 2009 Sep;31(9):875-881. doi: 10.1016/S1701-2163(16)34307-9. Furthermore, the practice of using age cutoffs to determine whether women should be offered screening or invasive diagnostic testing has been challenged. Get the latest research from NIH: https://www.nih.gov/coronavirus. NLM This site needs JavaScript to work properly. 162, Prenatal Diagnostic Testing for Genetic Disorders. Each patient should be counseled in each pregnancy about options for testing for fetal chromosomal abnormalities. Get the latest research from NIH: https://www.nih.gov/coronavirus. 693, Counseling About Genetic Testing and Communication of Genetic Test Results. Epub 2016 Mar 9. By reading this page you agree to ACOG's Terms and Conditions. Bulk pricing was not found for item. Second trimester ultrasound screening for chromosomal abnormalities. Get the latest public health information from CDC: https://www.coronavirus.gov.  |  691, Carrier Screening for Genetic Conditions.  |  It is important that obstetric care professionals be prepared to discuss not only the risk of fetal chromosomal abnormalities but also the relative benefits and limitations of the available screening and diagnostic tests. This Practice Bulletin has been revised to further clarify methods of screening for fetal chromosomal abnormalities, including expanded information regarding the use of cell-free DNA in all patients regardless of maternal age or baseline risk, and to add guidance related to patient counseling. 2018 Sep;12(3):121-128. The utility of nuchal translucency ultrasound in identifying rare chromosomal abnormalities not detectable by cell-free DNA screening. Visconti F, Quaresima P, Chiefari E, Caroleo P, Arcidiacono B, Puccio L, Mirabelli M, Foti DP, Di Carlo C, Vero R, Brunetti A. Int J Environ Res Public Health. First Trimester Combined Test (FTCT) as a Predictor of Gestational Diabetes Mellitus. 2014;2014:962720. doi: 10.1155/2014/962720. Prenatal testing for chromosomal abnormalities is designed to provide an accurate assessment of a patient’s risk of carrying a fetus with a chromosomal disorder.