Terhes nők számára annak becslésére, hogy a születendő gyermeknél mekkora a kockázata az olyan kromoszóma rendellenesség előfordulásának, mint például a Down szindróma (21 triszómia) vagy az Edwards szindróma (18 triszómia).
Általában a terhesség 11-14. hete között.
Vérminta vétel történik könyökhajlati vénából vagy vércseppet gyűjtenek egy speciális papírra ujjbegyből; a tarkóredő vastagság méréséhez speciális ultrahang készülék szükséges.
Tanácsolhatják Önnek, hogy teli húgyhólyaggal érkezzen a vizsgálatra, ha a tarkóredő vastagság mérését végzik ultrahanggal.
Aktuális áttekintésben használt források
(Reviewed 2014 October 21). Centers for Disease Control and Prevention. Data and statistics, occurrence of Down syndrome. Available online at https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html. Accessed 12/26/2016.
Lewis, R. (2015 July 3). Cell-free fetal DNA testing warrants caution, committee says. Medscape Medical News. Available online at http://www.medscape.com/viewarticle/847440. Accessed 12/26/2016.
(2015 September). American College of Obstetricians and Gynecologists. Committee Opinion, Number 640. Available online at http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Cell-free-DNA-Screening-for-Fetal-Aneuploidy. Accessed 12/26/2016.
(2015 October 8). First trimester screening. Mayo Clinic. Available online at http://www.mayoclinic.com/health/first-trimester-screening/MY00126. Accessed 12/26/2016.
(2016 May). Practice Bulletin Number 163: Screening for fetal aneuploidy. American College of Obstetricians and Gynecologists. Available online at https://s3.amazonaws.com/cdn.smfm.org/publications/224/download-491f0e6962960848d2097447ab57a024.pdf. Accessed 12/26/2016.
Gregg A.R., Skotko, B.G., Bekendorf J.L., et al. (2016 July 28). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A position statement of the American college of medical genetics and genomics. Genetics in Medicine. Available online at http://www.nature.com/gim/journal/vaop/ncurrent/full/gim201697a.html. Accessed 12/26/2016.
(2016 September). American College of Obstetricians and Gynecologists. Screening for birth defects. Available online at http://www.acog.org/~/media/For%20Patients/faq165.pdf?dmc=1&ts=20130213T1410405774. Accessed 12/26/2016.
(2016 October). March of Dimes. Down syndrome. Available online at http://www.marchofdimes.com/baby/birthdefects_downsyndrome.html. Accessed 12/26/2016.
(Reviewed 2016 October 20). Centers for Disease Control and Prevention. Birth defects, diagnosis. Available online at http://www.cdc.gov/ncbddd/birthdefects/diagnosis.html. Accessed 12/26/2016.
(© 1995-2016). Mayo Medical Laboratories. First trimester maternal screen. Available online at http://www.mayomedicallaboratories.com/test-catalog/2011/Clinical+and+Interpretive/87857. Accessed 12/26/2016.
(© 2016). Trisomy 18 Foundation. What is trisomy 18? Available online at http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis. Accessed 12/26/2016.
(September 2016) American Congress of Obstetricians and Gynecologists. Prenatal Genetic Screening Tests. Available online at http://www.acog.org/Patients/FAQs/Prenatal-Genetic-Screening-Tests?IsMobileSet=false. Accessed January 2017.
Korábbi áttekintések során használt források
Pagana, Kathleen D. & Pagana, Timothy J. (© 2007). Mosby's Diagnostic and Laboratory Test Reference 8th Edition: Mosby, Inc., Saint Louis, MO. Pp 710-713.
Thomas, Clayton L., Editor (1997). Taber's Cyclopedic Medical Dictionary. F.A. Davis Company, Philadelphia, PA [18th Edition].
Newberger, D. (2000 August 15). Down Syndrome: Prenatal Risk Assessment and Diagnosis. American Family Physician [On-line journal]. Available online at http://www.aafp.org/afp/20000815/825.html. Accessed on 4/15/07.
Qin, Q., et. al. (2002). Point-of-Care Time-resolved Immunofluorometric Assay for Human Pregnancy-associated Plasma Protein A: Use in First-Trimester Screening for Down Syndrome. Clinical Chemistry 48:473-483 [On-line journal]. Available online at http://www.clinchem.org/cgi/content/full/48/3/473. Accessed on 4/15/07.
(2007 January). Maternal Blood Screening for Birth Defects. March of Dimes [On-line information]. Available online at http://www.marchofdimes.com/printableArticles/14332_1166.asp. Accessed on 4/15/07.
Barclay, L. and Lie, D. (2007 January 4). New Guidelines Recommend Universal Prenatal Screening for Down Syndrome. Medscape Medical News [On-line information]. Available online at http://www.medscape.com/viewarticle/550256_print. Accessed on 4/10/07
Cleary-Goldman, J. and Malone, F. (2005 September 26). Advances in Prenatal Diagnosis. Medscape from Appl Radiol 2005;34(9): 8-18 [On-line information]. Available online at http://www.medscape.com/viewarticle/513126_print. Accessed on 4/10/07.
Cole, D.S. (© 2005). Advances in First-Trimester Prenatal Diagnosis: Combined, Integrated, or Amniocentesis? Medscape Conference Coverage: American College of Obstetricians and Gynecologists 53rd Annual Clinical Meeting [On-line information]. Available online at http://www.medscape.com/viewprogram/4078_pnt. Accessed on 4/10/07.
American College of Radiology and the Radiological Society of North America. Radiology Info, Obstetric ultrasound (online information, accessed June 2007). Available online at http://www.radiologyinfo.org/en/info.cfm?PG=obstetricus.
Malone FD, et al. First Trimester or Second Trimester Screening or Both for Down Syndrome. New England Journal of Medicine. 2005;353: 2001-2011.
ACOG News Release (January 2, 2007). New Recommendations for Down Syndrome Call for Screening of All Pregnant Women. Available online at http://www.acog.org/from_home/publications/press_releases/nr01-02-07-1.cfm.
ACOG Practice Bulletin Clinical Management Guidelines for Obstetrician-Gynecologists. Number 77, January 2007. Screening for Fetal Chromosomal Abnormalities. Obstetrics & Gynecology 2007; 109: 217-227.
(© 2010). Screening for Birth Defects. ACOG [On-line information]. Available online at http://www.acog.org/publications/patient_education/bp165.cfm. Accessed June 2010.
(2008 November). Maternal Blood Screening for Birth Defects. March of Dimes [On-line information]. Available online at http://www.marchofdimes.com/professionals/14332_1166.asp. Accessed June 2010.
Mayo Clinic Staff. (2008 July 2). First trimester screening. MayoClinic.com [On-line information]. Available online at http://www.mayoclinic.com/health/first-trimester-screening/MY00126. Accessed June 2010.
Ekelund, C. et. al. (2008 December 08). Impact of a new National Screening Policy for Down's Syndrome in Denmark: Population Based Cohort Study. Medscape from BMJ. 2008;337(2547) [On-line information]. Available online at http://www.medscape.com/viewarticle/584622. Accessed June 2010.
Pagana, K. D. & Pagana, T. J. (© 2007). Mosby's Diagnostic and Laboratory Test Reference 8th Edition: Mosby, Inc., Saint Louis, MO. Pp 757-759.
Wu, A. (© 2006). Tietz Clinical Guide to Laboratory Tests, 4th Edition: Saunders Elsevier, St. Louis, MO. Pp 252-259, 886-889.
(February 2006) American Pregnancy Association. First Trimester Screen. Available online at http://www.americanpregnancy.org/prenataltesting/firstscreen.html. Accessed September 2010.
Clarke, W. and Dufour, D. R., Editors (2006). Contemporary Practice in Clinical Chemistry, AACC Press, Washington, DC Pp 416-418.
ACOG. Screening for Birth Defects. Available online at http://www.acog.org/~/media/For%20Patients/faq165.pdf?dmc=1&ts=20130213T1410405774. Accessed February 2013.
CDC. Birth Defects, Diagnosis. Available online at http://www.cdc.gov/ncbddd/birthdefects/diagnosis.html. Accessed February 2013.
MayoClinic.com. First trimester screening. Available online at http://www.mayoclinic.com/health/first-trimester-screening/MY00126. Accessed February 2013.
March of Dimes. Birth defects: Down syndrome. Available online at http://www.marchofdimes.com/baby/birthdefects_downsyndrome.html. Accessed February 2013.
Trisomy 18 Foundation: What is Trisomy 18? Available online at http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis. Accessed February 2013.
LabCorp. First Trimester Maternal Serum Screening. PDF available for download at http://www.ptow.com/x_upload/files/Maternal%20Serum%20Screening.pdf. Accessed February 2013.