Society guideline links: Prenatal genetic screening and diagnosis

Introduction — This topic includes links to society and government-sponsored guidelines from selected countries and regions around the world. We will update these links periodically; newer versions of some guidelines may be available on each society's website. Some societies may require users to log in to access their guidelines.

The recommendations in the following guidelines may vary from those that appear in UpToDate topic reviews. Readers who are looking for UpToDate topic reviews should use the UpToDate search box to find the relevant content.

Links to related guidelines are provided separately. (See "Society guideline links: General prenatal care".)

International

●International Society for Prenatal Diagnosis (ISPD): Position statement on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies (2023)

●ISPD: Position statement on the use of genome-wide sequencing for prenatal diagnosis, update (2022)

●ISPD: Position statement for cell free (cf)DNA screening for Down syndrome in multiple pregnancies (2020)

●International Society of Ultrasound in Obstetrics and Gynecology (ISUOG): Updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice (2017)

Canada

●Choosing Wisely Canada: Canadian College of Medical Geneticists (CCMG) – Twelve tests and treatments to question (updated 2023)

●Choosing Wisely Canada: Don't routinely perform preimplantation genetic testing for aneuploidy screening on patients undergoing IVF (updated 2022)

●CCMG: Position statement on the clinical application of fetal genome-wide sequencing during pregnancy (2021)

●Society of Obstetricians and Gynaecologists of Canada (SOGC): Committee opinion on prenatal testing after IVF with preimplantation genetic testing for aneuploidy (2020)

●SOGC and CCMG: Guidelines on prenatal screening for and diagnosis of aneuploidy in twin pregnancies (2017)

United States

●American College of Medical Genetics and Genomics (ACMG): An evidence-based clinical guideline on noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population (2023)

●American College of Obstetricians and Gynecologists (ACOG): Committee opinion on carrier screening for genetic conditions (2017, reaffirmed 2023)

●ACOG: Committee opinion on carrier screening in the age of genomic medicine (2017, reaffirmed 2023)

●ACOG: Committee opinion on preimplantation genetic testing (2020, reaffirmed 2023)

●ACOG: Technology assessment on modern genetics in obstetrics and gynecology (2018, reaffirmed 2023)

●ACOG and Society for Maternal-Fetal Medicine (SMFM): Committee opinion on microarrays and next-generation sequencing technology – The use of advanced genetic diagnostic tools in obstetrics and gynecology (2016, reaffirmed 2023)

●National Society of Genetic Counselors (NSGC): An evidence-based practice guideline on expanded carrier screening for reproductive risk assessment (2023)

●ACOG: Practice advisory on cell-free DNA to screen for single-gene disorders (2019, reaffirmed 2022)

●SMFM: Choosing Wisely – Don't make irreversible decisions based on the results of cell-free DNA screening test (2022)

●SMFM: Choosing Wisely – Don't order serum aneuploidy screening after cfDNA aneuploidy screening has already been performed (2022)

●SMFM: Choosing Wisely – Don't perform routine cell-free DNA screening for microdeletions (2022)

●SMFM: Choosing Wisely – Don't recommend diagnostic testing following sonographic identification of an isolated echogenic intracardiac focus (EIF) or choroid plexus cyst (CPC) in women with low-risk aneuploidy screening results (2022)

●ACMG: A practice resource for screening for autosomal recessive and X-linked conditions during pregnancy and preconception (2021)

●ACMG: A technical standard on chromosomal microarray analysis, including constitutional and neoplastic disease applications, revision (2021)

●ACMG: A points to consider document on the use of fetal exome sequencing in prenatal diagnosis (2020)

●ACOG: Committee opinion on counseling about genetic testing and communication of genetic test results (2017, reaffirmed 2020)

●ACOG: Committee opinion on ethical issues in genetic testing (2008, reaffirmed 2020)

●ACOG: Practice bulletin on screening for fetal chromosomal abnormalities (2020)

●American College of Radiology (ACR): ACR Appropriateness Criteria on nuchal translucency evaluation at 11 to 14 weeks gestational age (2020)

●ACMG: A clinical laboratory practice resource on diagnostic cytogenetic testing following positive noninvasive prenatal screening results (2017)

●SMFM: Consult series on the role of ultrasound in women who undergo cell-free DNA screening (2017)

●ACMG: A position statement on noninvasive prenatal screening for fetal aneuploidy, update (2016)

●ACOG: Practice bulletin on prenatal diagnostic testing for genetic disorders (2016)

●SMFM: Consult series on the use of chromosomal microarray for prenatal diagnosis (2016)

●ACMG: Position statement on prenatal/preconception expanded carrier screening (2013)

United Kingdom

●Royal College of Obstetricians and Gynaecologists (RCOG): Scientific impact paper on the evidence to support the clinical utility of prenatal exome sequencing in evaluation of the fetus with congenital anomalies (2021)

●RCOG, Royal College of Midwives (RCM), and Society and College of Radiographers (SCoR): Consensus statement on pregnancy screening – Supporting women and their partners through prenatal screening for Down's syndrome, Edwards' syndrome and Patau's syndrome (2020)

●Association for Clinical Genomic Science (ACGS): Best practice guidelines for use of Quantitative Fluorescence-PCR for the detection of aneuploidy (2007, updated 2018)

Australia–New Zealand

●Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG): Best practice statement on routine antenatal assessment in the absence of pregnancy complications (2022)

●RANZCOG: Statement on genetic carrier screening (2019)

●RANZCOG: Statement on prenatal screening for fetal genetic or structural conditions (2019)

●Human Genetics Society of Australia (HGSA)/RANZCOG: Statement on prenatal screening and diagnostic testing for fetal chromosomal and genetic conditions (2018)