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 of Ultrasound in Obstetrics and Gynecology (ISUOG): Practice guidelines
●International Society for Prenatal Diagnosis (ISPD): Position statement for cell free (cf)DNA screening for Down syndrome in multiple pregnancies (2020)
●ISPD, Society for Maternal Fetal Medicine (SMFM), and Perinatal Quality Foundation (PQF): Joint position statement on the use of genome-wide sequencing for fetal diagnosis (2018)
Canada
●Choosing Wisely Canada: Don't make medical decisions based on results of direct to consumer genetic testing (DTC-GT) without a clear understanding of the limitations and validity of the test (2021)
●Choosing Wisely Canada: Don't order whole exome sequencing prior to genetic counselling (2021)
●Choosing Wisely Canada: Don't use non-invasive prenatal detection of fetal aneuploidies by cell-free DNA as a diagnostic test (2021)
●Society of Obstetricians and Gynaecologists of Canada (SOGC): Clinical practice guideline on cytomegalovirus infection in pregnancy (2021)
●Canadian College of Medical Geneticists (CCMG)-SOGC: Practice guideline – Joint recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada (2018)
●SOGC: Clinical practice guidelines on rubella in pregnancy (2018)
●SOGC: Clinical practice guideline on prenatal screening for and diagnosis of aneuploidy in twin pregnancies (2017)
●SOGC: Clinical practice guideline on prenatal screening for fetal aneuploidy in singleton pregnancies (2017)
●SOGC-CCMG: Joint guideline – Update on prenatal screening for fetal aneuploidy, fetal anomalies, and adverse pregnancy outcomes (2017)
●SOGC: Clinical practice guideline on prenatal diagnosis procedures and techniques to obtain a diagnostic fetal specimen or tissue – Maternal and fetal risks and benefits (2015)
●SOGC: Clinical practice guideline on parvovirus B19 in pregnancy (2014)
●SOGC: Clinical practice guideline on prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects (2014)
●SOGC: Committee opinion on current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma (2013)
●SOGC: Committee opinion on counselling considerations for prenatal genetic screening (2012)
●CCMG: CF testing/screening guidelines (2011)
●SOGC-CCMG: Joint clinical practice guideline on the use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies (2011)
●SOGC-CCMG: Joint technical update on the use of array genomic hybridization technology in prenatal diagnosis in Canada (2011)
United States
●Choosing Wisely: Don't order serum aneuploidy screening after cfDNA aneuploidy screening has already been performed (2016, updated 2021)
●American College of Obstetricians and Gynecologists (ACOG): Practice bulletin on screening for fetal chromosomal abnormalities (2020)
●ACOG: Committee opinion on management of pregnant women with presumptive exposure to Listeria monocytogenes (2014, reaffirmed 2019)
●American College of Medical Genetics and Genomics (ACMG): An updated position statement on access to reproductive options after prenatal diagnosis – Patient access and physician responsibilities (2019)
●American Institute of Ultrasound in Medicine (AIUM)-American College of Radiology (ACR)-ACOG-Society for Maternal-Fetal Medicine (SMFM)-Society of Radiologists in Ultrasound (SRU): Practice parameter for the performance of standard diagnostic obstetric ultrasound examinations (2018)
●ACMG: A clinical laboratory practice resource – Diagnostic cytogenetic testing following positive noninvasive prenatal screening results (2017)
●ACOG: Committee opinion on carrier screening for genetic conditions (2017)
●ACOG: Committee opinion on carrier screening in the age of genomic medicine (2017)
●ACOG: Committee opinion on counseling about genetic testing and communication of genetic test results (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)
●ACOG and SMFM: Committee opinion on microarrays and next-generation sequencing technology – The use of advanced genetic diagnostic tools in obstetrics and gynecology (2016)
●SMFM: Consult series – The use of chromosomal microarray for prenatal diagnosis (2016)
●ACOG: Practice bulletin on cytomegalovirus, parvovirus B19, varicella zoster, and toxoplasmosis in pregnancy (2015)
●European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG): Non-invasive prenatal testing for aneuploidy and beyond – Challenges of responsible innovation in prenatal screening (2015)
●SMFM: Consult series – Prenatal aneuploidy screening using cell-free DNA (2015)
●Choosing Wisely: Don't do an inherited thrombophilia evaluation for women with histories of pregnancy loss, intrauterine growth restriction (IUGR), preeclampsia and abruption (2014)
●Choosing Wisely: Don't offer noninvasive prenatal testing (NIPT) to low-risk patients or make irreversible decisions based on the results of this screening test (2014)
●National Society of Genetic Counselors (NSGC): Molecular testing for cystic fibrosis carrier status practice guidelines – Recommendations (2014)
●ACMG: Position statement on prenatal/preconception expanded carrier screening (2013)
●ACMG: Standards and guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications, revision (2013)
●NSGC: Practice guideline on prenatal screening and diagnostic testing options for chromosome aneuploidy (2013)
●NSGC: Practice guidelines on genetic counseling and testing for FMR1 gene mutations (2012)
●NSGC: Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome – Recommendations (2011)
●ACMG: Practice guidelines for the prenatal diagnosis of fetal skeletal dysplasias (2009)
●ACMG: Technical standards and guidelines – Prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements (2009)
Europe
●European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG): Non-invasive prenatal testing for aneuploidy and beyond – Challenges of responsible innovation in prenatal screening (2015)
United Kingdom
●UK National Screening Committee (UK NSC): Current recommendations
●Royal College of Obstetricians and Gynaecologists (RCOG): Prenatal management of pregnancies at risk of fetal neonatal alloimmune thrombocytopenia (FNAIT) (2019)
●Association for Clinical Genomic Science (ACGS): Best practice guidelines for use of Quantitative Fluorescence-PCR for the detection of aneuploidy (updated 2018)
●Choosing Wisely UK: Royal College of Pathologists – Recommendation 1: Avoid unnecessary duplicate genetic testing for inherited variants (2018)
●National Institute for Health and Care Excellence (NICE): Diagnostics guidance on high-throughput non-invasive prenatal testing for fetal RHD genotype (2016)
●RCOG: Scientific impact paper on non-invasive prenatal testing for chromosomal abnormality using maternal plasma DNA (2014)
Australia-New Zealand
●Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG): Genetic carrier screening (2019)
●RANZCOG: Prenatal screening for fetal genetic or structural conditions (2019)
●Human Genetics Society of Australasia (HGSA)/RANZCOG: Prenatal assessment of fetal structural conditions (2018)
●HGSA/RANZCOG: Prenatal screening and diagnostic testing for fetal chromosomal and genetic conditions (2018)
●Choosing Wisely Australia: Don't undertake carrier state testing for rare recessive disorders where a partner has a family history, the couple is non-consanguineous and there are no common causative mutations (2016)
●Choosing Wisely Australia: Don't undertake genetic testing when clinical diagnostic criteria exist and there are no reproductive or predictive testing implications (2016)
Japan
●Choosing Wisely Japan: Blood tests to examine the risk of miscarriage-when the test is useful or not helpful (2015, updated 2018)
●Japan Society of Obstetrics and Gynecology (JSOG) and Japan Association of Obstetricians and Gynecologists (JAOG): Guidelines for obstetrical practice in Japan (2014)
