156:(caused by trisomy 13), as well as sex chromosome aneuploidies, such as Turner syndrome (45, X) and Klinefelter syndrome (47, XXY). These methods of cffDNA sequencing have sensitivity and specificity rates greater than 99% in identifying Trisomy 21. Sensitivity and specificity rates are lower for other aneuploidies, such as trisomy 18 (97–99% and > 99%, respectively), trisomy 13 (87–99% and > 99%, respectively), and 45, X (92–95% and 99%, respectively). The low false positive rate (1–3%) is one of the advantages of NIPT which allows pregnant women to avoid invasive procedures. In the UK the Advertising Standards Authority has stated that one should not quote “Detection Rate” figures unless the figures are accompanied by (i.e. alongside)a robust "Positive Predictive Value" figure; and a clear explanations about what both figures mean.
183:(Panorama) including smaller nested deletions whilst still maintaining a low false positive rate. Single nucleotide polymorphism (SNP) NIPT can also detect Triploidy and can differentiate between maternal and "fetal" DNA which reduces the redraw rate and allows determination of gender for each fetus in twin pregnancies and can be done from 9 weeks of pregnancy.
126:. Many women, however, feel uncomfortable with the invasive testing, because of the risk associated with miscarriage, which is around 0.5%. Noninvasive prenatal testing is an intermediate step between prenatal screening and invasive diagnostic testing. The only physical risk associated with the procedure is the blood draw and there is no risk of miscarriage.
117:
and biochemical markers to detect aneuploidies is usually done in the first and / or second trimester of pregnancy. However, both of these approaches have a high rate of false positive results of 2–7%. If these tests indicate an increased risk of aneuploidy, then invasive diagnostic testing is used,
159:
NIPT can determine paternity and fetal sex earlier in gestation than previous tests (including possibly ultrasound). It is also used to determine fetal Rhesus D, which can prevent mothers who are Rhesus D negative from undergoing unnecessary prophylactic treatment. Finally, it is used to detect
1290:
Dar, P.; Jacobsson, B.; MacPherson, C.; Egbert, M.; Malone, F.; Wapner, R. J.; Roman, A. S.; Khalil, A.; Faro, R.; Madankumar, R.; Edwards, L.; Haeri, S.; Silver, R.; Vohra, N.; Hyett, J.; Clunie, G.; Demko, Z.; Martin, K.; Rabinowitz, M.; Flood, K.; Carlsson, Y.; Doulaveris, G.; Malone, C.;
101:(cffDNA). These fragments usually contain less than 200 DNA building blocks (base pairs) and arise when cells die, and their contents, including DNA, are released into the bloodstream. cffDNA derives from placental cells and is usually identical to fetal DNA. Analysis of cffDNA from
133:, however more fetal DNA is available for analysis usually after 10 weeks, because the amount of fetal DNA increases over time. cffDNA, RNA and intact fetal cells can all be used to assess the genetic status of the fetus non-invasively. Recent advances in DNA sequencing, such as
97:. This testing analyzes small DNA fragments that circulate in the blood of a pregnant woman. Unlike most DNA found in the nucleus of a cell, these fragments are not found within the cells, instead they are free-floating, and so are called
328:
Rose, Nancy C.; Kaimal, Anjali J.; Dugoff, Lorraine; Norton, Mary E.; Medicin, American
College of Obstetricians and Gynecologists’ Committee on Practice Bulletins-ObstetricsCommittee on GeneticsSociety for Maternal-Fetal (2020).
982:
Palomaki, Glenn E.; Deciu, Cosmin; Kloza, Edward M.; Lambert-Messerlian, Geralyn M.; Haddow, James E.; Neveux, Louis M.; Ehrich, Mathias; van den Boom, Dirk; Bombard, Allan T.; Grody, Wayne W.; Nelson, Stanley F. (2012).
222:
Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W.; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S.; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij (2015).
925:
Zimmermann, Bernhard; Hill, Matthew; Gemelos, George; Demko, Zachary; Banjevic, Milena; Baner, Johan; Ryan, Allison; Sigurjonsson, Styrmir; Chopra, Nikhil; Dodd, Michael; Levy, Brynn (2012).
495:
825:"Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art"
985:"DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study"
172:, including 1p, 5p, 15q, 22q, 11q, 8q, and 4p. The sensitivity and specificity of these tests, however, for most have not yet been validated.
511:
Allyse, Megan; Minear, Mollie A.; Berson, Elisa; Sridhar, Shilpa; Rote, Margaret; Hung, Anthony; Chandrasekharan, Subhashini (2015-01-16).
138:
1293:"Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation"
1392:
927:"Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci"
1278:
130:
206:
syndromes, positive results can be incorrect as much as 85% of the time, according to a New York Times investigation.
134:
224:"Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening"
55:
144:
Since 2014, noninvasive testing has identified aneuploidies in chromosomes 13, 16, 18, 21, 22, X and Y, including
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824:
123:
82:
195:
105:
provides the opportunity for early detection of certain chromosomal abnormalities without harming the fetus.
1041:
450:
379:
426:"What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?: MedlinePlus Genetics"
1340:
1166:
Goodspeed, Taylor A.; Allyse, Megan; Sayres, Lauren C.; Norton, Mary E.; Cho, Mildred K. (2013-01-01).
1111:"Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA: A Systematic Review and Meta-analysis"
878:
Nicolaides, Kypros H.; Syngelaki, Argyro; Ashoor, Ghalia; Birdir, Cahit; Touzet, Gisele (2012-11-01).
613:"Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age"
1387:
880:"Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population"
715:"Non-Invasive Prenatal Diagnosis Using Cell-Free Fetal DNA Technology: Applications and Implications"
612:
191:
141:(PCR), are currently under exploration for the detection of chromosomal aneuploidies via NIPT/NIPS.
1382:
1168:"Translating cell-free fetal DNA technology: structural lessons from non-invasive RhD blood typing"
98:
179:
SMART study however has shown that most cases of 22q11.2 deletion can be detected using SNP based
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1225:"Integration of noninvasive prenatal prediction of fetal blood group into clinical prenatal care"
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564:"The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis"
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Hallingstrom, M.; Klugman, S.; Clifton, R.; Kao, C.; Hakonarson, H.; Norton, M. E. (2022).
1109:
Devaney, Stephanie A.; Palomaki, Glenn E.; Scott, Joan A.; Bianchi, Diana W. (2011-08-10).
129:
Circulating cffDNA can be detected in maternal blood between the 5th and the 7th week of
513:"Non-invasive prenatal testing: a review of international implementation and challenges"
451:"The Role of Second-Trimester Serum Screening in the Post–First-Trimester Screening Era"
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660:"Cell-Free Fetal Nucleic Acid Testing: A Review of the Technology and Its Applications"
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https://www.natera.com/resource-library/publications/smart-22q-1-2022-fully-published
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770:"Detection of circulating fetal nucleic acids: a review of methods and applications"
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331:"Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226"
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81:) is a method used to determine the risk for the fetus being born with certain
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380:"Noninvasive prenatal testing for fetal aneuploidy and single gene disorders"
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1356:"When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong"
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1000:
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496:
Amniocentesis and
Chorionic Villus Sampling (Green-top Guideline No. 8)
730:
1042:"Ethical and legal aspects of noninvasive prenatal genetic diagnosis"
449:
Shamshirsaz, Alireza A.; Benn, Peter; Egan, James F.X. (2010-09-01).
176:
1240:
942:
384:
Best
Practice & Research Clinical Obstetrics & Gynaecology
1096:"Enforcement Notice - Advertising Non-invasive Prenatal Testing"
829:
768:
Hung, E. C. W.; Chiu, R. W. K.; Lo, Y. M. D. (2009-04-01).
281:"Cell-free DNA for the detection of fetal aneuploidy"
1046:
International
Journal of Gynecology & Obstetrics
498:
rcog.org.uk 25 October 2021 Retrieved 30 March 2023
45:
37:
32:
611:Chiu, Rossa W. K.; Lo, Y. M. Dennis (2011-04-01).
1354:Kliff, Sarah; Bhatia, Aatish (January 1, 2022).
884:American Journal of Obstetrics & Gynecology
713:Hall, A.; Bostanci, A.; Wright, C. F. (2010).
1297:American Journal of Obstetrics and Gynecology
8:
562:Wright, Caroline F.; Burton, Hilary (2009).
658:Sayres, Lauren C.; Cho, Mildred K. (2011).
378:Skrzypek, Hannah; Hui, Lisa (2017-07-01).
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1016:
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279:Goldwaser, Tamar; Klugman, Susan (2018).
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617:Seminars in Fetal and Neonatal Medicine
517:International Journal of Women's Health
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664:Obstetrical & Gynecological Survey
29:
7:
506:
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228:European Journal of Human Genetics
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139:digital polymerase chain reaction
1223:Clausen, Frederik Banch (2014).
841:10.1111/j.1471-0528.2008.02010.x
298:10.1016/j.fertnstert.2017.12.019
455:Clinics in Laboratory Medicine
1:
1184:10.1016/j.tibtech.2012.09.001
774:Journal of Clinical Pathology
396:10.1016/j.bpobgyn.2017.02.007
18:Non invasive prenatal testing
1040:Dickens, Bernard M. (2014).
676:10.1097/OGX.0b013e31822dfbe2
348:10.1097/AOG.0000000000004084
186:For micro deletions such as
75:Noninvasive prenatal testing
33:Noninvasive prenatal testing
335:Obstetrics & Gynecology
135:massive parallel sequencing
1409:
1310:10.1016/j.ajog.2022.01.019
1058:10.1016/j.ijgo.2013.11.001
896:10.1016/j.ajog.2012.08.033
629:10.1016/j.siny.2010.10.003
56:obstetrics and gynaecology
568:Human Reproduction Update
467:10.1016/j.cll.2010.04.013
124:chorionic villus sampling
83:chromosomal abnormalities
61:
196:Wolf-Hirschhorn syndrome
152:(caused by trisomy 18),
148:(caused by trisomy 21),
1172:Trends in Biotechnology
786:10.1136/jcp.2007.048470
285:Fertility and Sterility
1393:Tests during pregnancy
1341:"Panorama Overview V4"
1127:10.1001/jama.2011.1114
719:Public Health Genomics
1303:(2): 259.e1–259.e14.
823:Lo, Y. M. D. (2009).
581:10.1093/humupd/dmn047
1358:. The New York Times
989:Genetics in Medicine
890:(5): 374.e1–374.e6.
240:10.1038/ejhg.2015.57
192:Cri-du-chat syndrome
1001:10.1038/gim.2011.73
530:10.2147/IJWH.S67124
99:cell free fetal DNA
1229:Prenatal Diagnosis
931:Prenatal Diagnosis
937:(13): 1233–1241.
731:10.1159/000279626
234:(11): 1438–1450.
190:, 1p36 deletion,
188:DiGeorge syndrome
162:genetic mutations
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52:Medical diagnosis
27:Medical procedure
16:(Redirected from
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154:Patau syndrome
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1388:Gynaecology
523:: 113–126.
113:The use of
38:Other names
1383:Obstetrics
1377:Categories
1178:(1): 7–9.
435:2021-06-27
210:References
164:, such as
137:(MPS) and
115:ultrasound
109:Background
95:trisomy 13
91:trisomy 18
87:trisomy 21
85:, such as
1362:18 August
1327:246331398
1265:222098536
1249:1097-0223
1192:0167-7799
1135:0098-7484
1066:1879-3479
1009:1530-0366
951:1097-0223
904:0002-9378
849:1471-0528
794:0021-9746
739:1662-4246
684:0029-7828
637:1744-165X
590:1460-2369
475:0272-2712
404:1521-6934
390:: 26–38.
357:0029-7844
307:0015-0282
248:1476-5438
181:NIPT/NIPS
47:Specialty
1319:35085538
1257:24431264
1210:23040170
1153:21828326
1082:29627343
1074:24299974
1027:22281937
969:23108718
912:23107079
857:19076946
810:21367768
802:19329710
755:26020661
747:20395693
700:17018886
692:21944155
645:21075065
598:18945714
549:25653560
483:20638580
412:28342726
365:32804883
315:29447662
266:25782669
204:Angelman
118:such as
103:placenta
1201:6309969
1144:4526182
1018:3938175
960:3548605
865:6946087
540:4303457
257:4613463
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