Prenatal testing (English Wikipedia)

"Carrier Screening". www.acog.org. Retrieved December 1, 2023.
"Cell-Free DNA Prenatal Screening Test". www.acog.org. Retrieved December 1, 2023.
"Prenatal Genetic Screening Tests". www.acog.org. Retrieved December 1, 2023.
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americanpregnancy.org

"Getting a Pregnancy Urinalysis: About Prenatal Urine Tests". American Pregnancy Association. May 26, 2019. Retrieved December 1, 2023.
"Ultrasound: Sonogram". American Pregnancy Association. April 26, 2020. Retrieved December 1, 2023.
"Cordocentesis : Percutaneous Umbilical Blood Sampling (PUBS)". American Pregnancy Association. August 26, 2020. Retrieved December 1, 2023.
"Fetal Non-Stress Test (NST)". American Pregnancy Association. April 26, 2012. Retrieved December 1, 2023.

annualreviews.org

Ravitsky, Vardit; Roy, Marie-Christine; Haidar, Hazar; Henneman, Lidewij; Marshall, John; Newson, Ainsley J.; Ngan, Olivia M.Y.; Nov-Klaiman, Tamar (August 31, 2021). "The Emergence and Global Spread of Noninvasive Prenatal Testing". Annual Review of Genomics and Human Genetics. 22 (1): 309–338. doi:10.1146/annurev-genom-083118-015053. ISSN 1527-8204. PMID 33848430.

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Taylor-Phillips, Sian; Freeman, Karoline; Geppert, Julia; Agbebiyi, Adeola; Uthman, Olalekan A.; Madan, Jason; Clarke, Angus; Quenby, Siobhan; Clarke, Aileen (January 1, 2016). "Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis". BMJ Open. 6 (1): e010002. doi:10.1136/bmjopen-2015-010002. ISSN 2044-6055. PMC 4735304. PMID 26781507.

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Pour ce paragraphe, lire : Conseil de l'Europe, Document de base sur le diagnostic préimplantatoire et le diagnostic prénatal ; situation clinique, situation juridique, octobre 2011.

columbiadoctors.org

"Carrier Test for Autosomal Recessive Conditions Video & Image". www.columbiadoctors.org. Retrieved December 1, 2023.

creativecommons.org

Kitchen, Felisha L.; Jack, Brian W. (2021), "Prenatal Screening", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 29261924, retrieved June 26, 2021 Text was copied from this source, which is available under a Creative Commons Attribution 4.0 International License.

degruyter.com

Schöne-Seifert, Bettina; Junker, Chiara (October 26, 2021). "Making use of non-invasive prenatal testing (NIPT): rethinking issues of routinization and pressure". Journal of Perinatal Medicine. 49 (8): 959–964. doi:10.1515/jpm-2021-0236. ISSN 0300-5577.
Schöne-Seifert, Bettina; Junker, Chiara (October 26, 2021). "Making use of non-invasive prenatal testing (NIPT): rethinking issues of routinization and pressure". Journal of Perinatal Medicine. 49 (8): 959–964. doi:10.1515/jpm-2021-0236. ISSN 0300-5577.

doi.org

Pös, Ondrej; Budiš, Jaroslav; Szemes, Tomáš (2019). "Recent trends in prenatal genetic screening and testing". F1000Research. 8: 764. doi:10.12688/f1000research.16837.1. ISSN 2046-1402. PMC 6545823. PMID 31214330.
Versacci P, Di Carlo D, Digilio MC, Marino B (October 2018). "Cardiovascular disease in Down syndrome". Current Opinion in Pediatrics. 30 (5): 616–622. doi:10.1097/MOP.0000000000000661. PMID 30015688. S2CID 51663233.
Lao MR, Calhoun BC, Bracero LA, Wang Y, Seybold DJ, Broce M, Hatjis CG (2009). "The ability of the quadruple test to predict adverse perinatal outcomes in a high-risk obstetric population". Journal of Medical Screening. 16 (2): 55–9. doi:10.1258/jms.2009.009017. PMID 19564516. S2CID 23214929.
Gjerris AC, Tabor A, Loft A, Christiansen M, Pinborg A (July 2012). "First trimester prenatal screening among women pregnant after IVF/ICSI". Human Reproduction Update. 18 (4): 350–9. doi:10.1093/humupd/dms010. PMID 22523111.
Ball RH, Caughey AB, Malone FD, Nyberg DA, Comstock CH, Saade GR, et al. (July 2007). "First- and second-trimester evaluation of risk for Down syndrome". Obstetrics and Gynecology. 110 (1): 10–7. doi:10.1097/01.AOG.0000263470.89007.e3. PMID 17601890. S2CID 10885982.
Dashe JS, Twickler DM, Santos-Ramos R, McIntire DD, Ramus RM (December 2006). "Alpha-fetoprotein detection of neural tube defects and the impact of standard ultrasound" (PDF). American Journal of Obstetrics and Gynecology. 195 (6): 1623–8. doi:10.1016/j.ajog.2006.03.097. PMID 16769022. Archived from the original (PDF) on October 1, 2011. Retrieved November 12, 2010.
Maron JL, Alterovitz G, Ramoni M, Johnson KL, Bianchi DW (December 2009). "High-throughput discovery and characterization of fetal protein trafficking in the blood of pregnant women". Proteomics. Clinical Applications. 3 (12): 1389–96. doi:10.1002/prca.200900109. PMC 2825712. PMID 20186258.
Papageorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC (April 2011). "Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21". Nature Medicine. 17 (4): 510–3. doi:10.1038/nm.2312. PMC 3977039. PMID 21378977.
Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. (November 2011). "DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study". Genetics in Medicine. 13 (11): 913–20. doi:10.1097/GIM.0b013e3182368a0e. PMID 22005709. S2CID 24761833.
Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, et al. (March 2012). "DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study". Genetics in Medicine. 14 (3): 296–305. doi:10.1038/gim.2011.73. PMC 3938175. PMID 22281937.
Jelin, Angie C.; Sagaser, Katelynn G.; Wilkins-Haug, Louise (April 1, 2019). "Prenatal Genetic Testing Options". Pediatric Clinics of North America. Current Advances in Neonatal Care. 66 (2): 281–293. doi:10.1016/j.pcl.2018.12.016. ISSN 0031-3955. PMID 30819336. S2CID 73470036.
Jenkins, Morgan; Seasely, Angela R.; Subramaniam, Akila (December 2022). "Prenatal genetic testing 1: screening tests". Current Opinion in Pediatrics. 34 (6): 544. doi:10.1097/MOP.0000000000001172. ISSN 1040-8703.
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Gil, M. M.; Galeva, S.; Jani, J.; Konstantinidou, L.; Akolekar, R.; Plana, M. N.; Nicolaides, K. H. (June 2019). "Screening for trisomies by cfDNA testing of maternal blood in twin pregnancy: update of The Fetal Medicine Foundation results and meta-analysis". Ultrasound in Obstetrics & Gynecology. 53 (6): 734–742. doi:10.1002/uog.20284. hdl:10641/1656. ISSN 1469-0705. PMID 31165549.
Revello R, Sarno L, Ispas A, Akolekar R, Nicolaides KH (June 2016). "Screening for trisomies by cell-free DNA testing of maternal blood: consequences of a failed result". Ultrasound in Obstetrics & Gynecology. 47 (6): 698–704. doi:10.1002/uog.15851. PMID 26743020.
Wataganara, T; LeShane, ES; et al. (2003). "Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18. – PubMed – NCBI". Human Genetics. 112 (2): 204–8. doi:10.1007/s00439-002-0853-9. PMID 12522563. S2CID 9721963.
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Lo YM, Lau TK, Zhang J, Leung TN, Chang AM, Hjelm NM, et al. (October 1999). "Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21". Clinical Chemistry. 45 (10): 1747–51. doi:10.1093/clinchem/45.10.1747. PMID 10508120.
Lo YM (January 2009). "Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art". BJOG. 116 (2): 152–7. doi:10.1111/j.1471-0528.2008.02010.x. PMID 19076946. S2CID 6946087.
Zimmermann BG, Grill S, Holzgreve W, Zhong XY, Jackson LG, Hahn S (December 2008). "Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?". Prenatal Diagnosis. 28 (12): 1087–93. doi:10.1002/pd.2150. PMID 19003785. S2CID 2909830.
Go AT, van Vugt JM, Oudejans CB (2010). "Non-invasive aneuploidy detection using free fetal DNA and RNA in maternal plasma: recent progress and future possibilities". Human Reproduction Update. 17 (3): 372–82. doi:10.1093/humupd/dmq054. PMID 21076134.
Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR (October 2008). "Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood". Proceedings of the National Academy of Sciences of the United States of America. 105 (42): 16266–71. Bibcode:2008PNAS..10516266F. doi:10.1073/pnas.0808319105. PMC 2562413. PMID 18838674.
Taylor-Phillips, Sian; Freeman, Karoline; Geppert, Julia; Agbebiyi, Adeola; Uthman, Olalekan A.; Madan, Jason; Clarke, Angus; Quenby, Siobhan; Clarke, Aileen (January 1, 2016). "Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis". BMJ Open. 6 (1): e010002. doi:10.1136/bmjopen-2015-010002. ISSN 2044-6055. PMC 4735304. PMID 26781507.
Allyse, Megan; Minear, Mollie A; Berson, Elisa; Sridhar, Shilpa; Rote, Margaret; Hung, Anthony; Chandrasekharan, Subhashini (January 16, 2015). "Non-invasive prenatal testing: a review of international implementation and challenges". International Journal of Women's Health. 7: 113–126. doi:10.2147/IJWH.S67124. ISSN 1179-1411. PMC 4303457. PMID 25653560.
Ghi, T.; Sotiriadis, A.; Calda, P.; Da Silva Costa, F.; Raine-Fenning, N.; Alfirevic, Z.; McGillivray, G.; International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) (August 2016). "ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis: ISUOG Guidelines". Ultrasound in Obstetrics & Gynecology. 48 (2): 256–268. doi:10.1002/uog.15945. hdl:11343/291569. PMID 27485589. S2CID 35587941.
"Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine". Obstetrics and Gynecology. 129 (3): 595–596. March 2017. doi:10.1097/AOG.0000000000001947. PMID 28225420. S2CID 205468921.
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Yurkiewicz IR, Korf BR, Lehmann LS (January 2014). "Prenatal whole-genome sequencing—is the quest to know a fetus's future ethical?". The New England Journal of Medicine. 370 (3): 195–7. doi:10.1056/NEJMp1215536. PMID 24428465. S2CID 205109276.
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Ravitsky, Vardit; Roy, Marie-Christine; Haidar, Hazar; Henneman, Lidewij; Marshall, John; Newson, Ainsley J.; Ngan, Olivia M.Y.; Nov-Klaiman, Tamar (August 31, 2021). "The Emergence and Global Spread of Noninvasive Prenatal Testing". Annual Review of Genomics and Human Genetics. 22 (1): 309–338. doi:10.1146/annurev-genom-083118-015053. ISSN 1527-8204. PMID 33848430.
Robinson, Heloise (July 3, 2023). "Prenatal testing, disability equality, and the limits of the law". The New Bioethics. 29 (3): 202–215. doi:10.1080/20502877.2022.2145672. ISSN 2050-2877. PMID 36401537.
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Lao MR, Calhoun BC, Bracero LA, Wang Y, Seybold DJ, Broce M, Hatjis CG (2009). "The ability of the quadruple test to predict adverse perinatal outcomes in a high-risk obstetric population". Journal of Medical Screening. 16 (2): 55–9. doi:10.1258/jms.2009.009017. PMID 19564516. S2CID 23214929.
Gjerris AC, Tabor A, Loft A, Christiansen M, Pinborg A (July 2012). "First trimester prenatal screening among women pregnant after IVF/ICSI". Human Reproduction Update. 18 (4): 350–9. doi:10.1093/humupd/dms010. PMID 22523111.
Ball RH, Caughey AB, Malone FD, Nyberg DA, Comstock CH, Saade GR, et al. (July 2007). "First- and second-trimester evaluation of risk for Down syndrome". Obstetrics and Gynecology. 110 (1): 10–7. doi:10.1097/01.AOG.0000263470.89007.e3. PMID 17601890. S2CID 10885982.
Dashe JS, Twickler DM, Santos-Ramos R, McIntire DD, Ramus RM (December 2006). "Alpha-fetoprotein detection of neural tube defects and the impact of standard ultrasound" (PDF). American Journal of Obstetrics and Gynecology. 195 (6): 1623–8. doi:10.1016/j.ajog.2006.03.097. PMID 16769022. Archived from the original (PDF) on October 1, 2011. Retrieved November 12, 2010.
Maron JL, Alterovitz G, Ramoni M, Johnson KL, Bianchi DW (December 2009). "High-throughput discovery and characterization of fetal protein trafficking in the blood of pregnant women". Proteomics. Clinical Applications. 3 (12): 1389–96. doi:10.1002/prca.200900109. PMC 2825712. PMID 20186258.
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