Login Register Cart 0
Generic placeholder image

Current Genomics

Editor-in-Chief

ISSN (Print): 1389-2029
ISSN (Online): 1875-5488

Back
Journal Home About Journal Editorial Board Journal Insight Current Issue Volumes/Issues
Subscribe
Review Article

Non-invasive Prenatal Testing in Pregnancies Following Assisted Reproduction

Author(s): Vandana Kamath, Mary Purna Chacko and Mohan S. Kamath*

Volume 23, Issue 5, 2022

Published on: 05 July, 2022

Page: [326 - 336] Pages: 11

DOI: 10.2174/1389202923666220518095758

Price: $65

Abstract

In the decade since non-invasive prenatal testing (NIPT) was first implemented as a prenatal screening tool, it has gained recognition for its sensitivity and specificity in the detection of common aneuploidies. This review mainly focuses on the emerging role of NIPT in pregnancies following assisted reproductive technology (ART) in the light of current evidence and recommendations. It also deals with the challenges, shortcomings and interpretational difficulties related to NIPT in ART pregnancies, with particular emphasis on twin and vanishing twin pregnancies, which are widely regarded as the Achilles’ heel of most pre-natal screening platforms. Future directions for exploration towards improving the performance and extending the scope of NIPT are also addressed.

Keywords: NIPT, prenatal screening, aneuploidy, ART, pregnancy, assisted reproduction, non-invasive.

« Previous Next »
Graphical Abstract

[1]
Wennerholm, U.B.; Bergh, C. Perinatal outcome in children born after assisted reproductive technologies. Ups. J. Med. Sci., 2020, 125(2), 158-166.
[http://dx.doi.org/10.1080/03009734.2020.1726534] [PMID: 32124667]
[2]
De Geyter, C.; Calhaz-Jorge, C.; Kupka, M.S.; Wyns, C.; Mocanu, E.; Motrenko, T.; Scaravelli, G.; Smeenk, J.; Vidakovic, S.; Goossens, V.; Gliozheni, O.; Strohmer, H. Obruca; Kreuz-Kinderwunschzentrum, S.P.G.; Petrovskaya, E.; Tishkevich, O.; Wyns, C.; Bogaerts, K.; Balic, D.; Sibincic, S.; Antonova, I.; Vrcic, H.; Ljiljak, D.; Pelekanos, M.; Rezabek, K.; Markova, J.; Lemmen, J.; Sõritsa, D.; Gissler, M.; Tiitinen, A.; Royere, D.; Tandler-Schneider, A.; Kimmel, M.; Antsaklis, A.J.; Loutradis, D.; Urbancsek, J.; Kosztolanyi, G.; Bjorgvinsson, H.; Mocanu, E.; Scaravelli, G.; de Luca, R.; Lokshin, V.; Ravil, V.; Magomedova, V.; Gudleviciene, Z.; Belo lopes, G.; Petanovski, Z.; Calleja-Agius, J.; Xuereb, J.; Moshin, V.; Simic, T.M.; Vukicevic, D.; Romundstad, L.B.; Janicka, A.; Calhaz-Jorge, C.; Laranjeira, A.R.; Rugescu, I.; Doroftei, B.; Korsak, V.; Radunovic, N.; Tabs, N.; Virant-Klun, I.; Saiz, I.C.; Mondéjar, F.P.; Bergh, C.; Weder, M.; De Geyter, C.; Smeenk, J.M.J.; Gryshchenko, M.; Baranowski, R. ART in Europe, 2014: Results generated from European registries by ESHRE: The European IVF-monitoring Consortium (EIM) for the European Society of Human Reproduction and Embryology (ESHRE). Hum. Reprod., 2018, 33(9), 1586-1601.
[http://dx.doi.org/10.1093/humrep/dey242] [PMID: 30032255]
[3]
Pinborg, A.; Loft, A.; Rasmussen, S.; Schmidt, L.; Langhoff-Roos, J.; Greisen, G.; Andersen, A.N. Neonatal outcome in a Danish national cohort of 3438 IVF/ICSI and 10,362 non-IVF/ICSI twins born between 1995 and 2000. Hum. Reprod., 2004, 19(2), 435-441.
[http://dx.doi.org/10.1093/humrep/deh063] [PMID: 14747193]
[4]
Gjerris, A.C.; Loft, A.; Pinborg, A.; Christiansen, M.; Tabor, A. Prenatal testing among women pregnant after assisted reproductive techniques in Denmark 1995-2000: A national cohort study. Hum. Reprod., 2008, 23(7), 1545-1552.
[http://dx.doi.org/10.1093/humrep/den103] [PMID: 18385126]
[5]
Bellver, J.; Lara, C.; Soares, S.R.; Ramírez, A.; Pellicer, A.; Remohí, J.; Serra, V. First trimester biochemical screening for Down’s syndrome in singleton pregnancies conceived by assisted reproduction. Hum. Reprod., 2005, 20(9), 2623-2627.
[http://dx.doi.org/10.1093/humrep/dei107] [PMID: 15905286]
[6]
Wøjdemann, K.R.; Larsen, S.O.; Shalmi, A.; Sundberg, K.; Christiansen, M.; Tabor, A. First trimester screening for Down syndrome and assisted reproduction: No basis for concern. Prenat. Diagn., 2001, 21(7), 563-565.
[http://dx.doi.org/10.1002/pd.124] [PMID: 11494292]
[7]
Ribbert, L.S.; Kornman, L.H.; De Wolf, B.T.; Simons, A.H.; Jansen, C.A.; Beekhuis, J.R.; Mantingh, A. Maternal serum screening for fetal Down syndrome in IVF pregnancies. Prenat. Diagn., 1996, 16(1), 35-38.
[http://dx.doi.org/10.1002/(SICI)1097-0223(199601)16:1<35:AID-PD805>3.0.CO;2-9] [PMID: 8821850]
[8]
Hamerton, J.L.; Canning, N.; Ray, M.; Smith, S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin. Genet., 1975, 8(4), 223-243.
[http://dx.doi.org/10.1111/j.1399-0004.1975.tb01498.x] [PMID: 1183067]
[9]
Kim, J.W.; Lee, W.S.; Yoon, T.K.; Seok, H.H.; Cho, J.H.; Kim, Y.S.; Lyu, S.W.; Shim, S.H. Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment. BMC Med. Genet., 2010, 11(1), 153.
[http://dx.doi.org/10.1186/1471-2350-11-153] [PMID: 21044350]
[10]
Qin, J.Z.; Pang, L.H.; Li, M.Q.; Xu, J.; Zhou, X. Risk of chromosomal abnormalities in early spontaneous abortion after assisted reproductive technology: A meta-analysis. PLoS One, 2013, 8(10), e75953.
[http://dx.doi.org/10.1371/journal.pone.0075953] [PMID: 24130752]
[11]
Koulischer, L.; Verloes, A.; Lesenfants, S.; Jamar, M.; Herens, C. Genetic risk in natural and medically assisted procreation. Early Pregnancy, 1997, 3(3), 164-171.
[PMID: 10086066]
[12]
American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—ObstetricsCommittee on GeneticsSociety for Maternal-Fetal Medicine. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstet. Gynecol., 2020, 136(4), e48-e69.
[http://dx.doi.org/10.1097/AOG.0000000000004084] [PMID: 32804883]
[13]
Niemimaa, M.; Heinonen, S.; Seppälä, M.; Hippeläinen, M.; Martikainen, H.; Ryynänen, M. First-trimester screening for Down’s syndrome in in vitro fertilization pregnancies. Fertil. Steril., 2001, 76(6), 1282-1283.
[http://dx.doi.org/10.1016/S0015-0282(01)02871-0] [PMID: 11730770]
[14]
Heinonen, S.; Ryynänen, M.; Kirkinen, P.; Hippeläinen, M.; Saarikoski, S. Effect of in vitro fertilization on human chorionic gonadotropin serum concentrations and Down’s syndrome screening. Fertil. Steril., 1996, 66(3), 398-403.
[http://dx.doi.org/10.1016/S0015-0282(16)58508-2] [PMID: 8751737]
[15]
Lambert-Messerlian, G.; Dugoff, L.; Vidaver, J.; Canick, J.A.; Malone, F.D.; Ball, R.H.; Comstock, C.H.; Nyberg, D.A.; Saade, G.; Eddleman, K.; Klugman, S.; Craigo, S.D.; Timor-Tritsch, I.E.; Carr, S.R.; Wolfe, H.M.; D’Alton, M.E. First- and second-trimester Down syndrome screening markers in pregnancies achieved through assisted reproductive technologies (ART): A FASTER trial study. Prenat. Diagn., 2006, 26(8), 672-678.
[http://dx.doi.org/10.1002/pd.1469] [PMID: 16764012]
[16]
Mujezinovic, F.; Alfirevic, Z. Procedure-related complications of amniocentesis and chorionic villous sampling: A systematic review. Obstet. Gynecol., 2007, 110(3), 687-694.
[http://dx.doi.org/10.1097/01.AOG.0000278820.54029.e3] [PMID: 17766619]
[17]
NICHD. Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy. JAMA, 1976, 236(13), 1471-1476.
[http://dx.doi.org/10.1001/jama.1976.03270140023016] [PMID: 989112]
[18]
Rhoads, G.G.; Jackson, L.G.; Schlesselman, S.E.; de la Cruz, F.F.; Desnick, R.J.; Golbus, M.S.; Ledbetter, D.H.; Lubs, H.A.; Mahoney, M.J.; Pergament, E.; Simpson, J.L.; Carpenter, R.J.; Elias, S.; Ginsberg, N.A.; Goldberg, J.D.; Hobbins, J.C.; Lynch, L.; Shiono, P.H.; Wapner, R.J.; Zachary, J.M. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N. Engl. J. Med., 1989, 320(10), 609-617.
[http://dx.doi.org/10.1056/NEJM198903093201001] [PMID: 2645520]
[19]
Ledbetter, D.H.; Zachary, J.M.; Simpson, J.L.; Golbus, M.S.; Pergament, E.; Jackson, L.; Mahoney, M.J.; Desnick, R.J.; Schulman, J.; Copeland, K.L.; Verlinsky, Y.; Yang-Feng, T.; Schonberg, S.A.; Babu, A.; Tharapel, A.; Dorfmann, A.; Lubs, H.A.; Rhoads, G.G.; Fowler, S.E.; De La Cruz, F. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat. Diagn., 1992, 12(5), 317-345.
[http://dx.doi.org/10.1002/pd.1970120503] [PMID: 1523201]
[20]
Lippman, A.; Tomkins, D.J.; Shime, J.; Hamerton, J.L. Canadian multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Final report. Prenat. Diagn., 1992, 12(5), 385-408.
[http://dx.doi.org/10.1002/pd.1970120508] [PMID: 1523206]
[21]
Hahnemann, J.M.; Vejerslev, L.O. Accuracy of cytogenetic findings on chorionic villus sampling (CVS)--diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992. Prenat. Diagn., 1997, 17(9), 801-820.
[http://dx.doi.org/10.1002/(SICI)1097-0223(199709)17:9<801:AID-PD153>3.0.CO;2-E] [PMID: 9316125]
[22]
Mandel, P.; Metais, P. Nuclear Acids In Human Blood Plasma C.R. Seances Soc. Biol. Fil., 1948, 142(3-4), 241-243.
[PMID: 18875018]
[23]
Lo, Y.M.; Corbetta, N.; Chamberlain, P.F.; Rai, V.; Sargent, I.L.; Redman, C.W.; Wainscoat, J.S. Presence of fetal DNA in maternal plasma and serum. Lancet, 1997, 350(9076), 485-487.
[http://dx.doi.org/10.1016/S0140-6736(97)02174-0] [PMID: 9274585]
[24]
Jahr, S.; Hentze, H.; Englisch, S.; Hardt, D.; Fackelmayer, F.O.; Hesch, R.D.; Knippers, R. DNA fragments in the blood plasma of cancer patients: Quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer Res., 2001, 61(4), 1659-1665.
[PMID: 11245480]
[25]
Tjoa, M.L.; Cindrova-Davies, T.; Spasic-Boskovic, O.; Bianchi, D.W.; Burton, G.J. Trophoblastic oxidative stress and the release of cell-free feto-placental DNA. Am. J. Pathol., 2006, 169(2), 400-404.
[http://dx.doi.org/10.2353/ajpath.2006.060161] [PMID: 16877342]
[26]
Alberry, M.; Maddocks, D.; Jones, M.; Abdel Hadi, M.; Abdel-Fattah, S.; Avent, N.; Soothill, P.W. Free fetal DNA in maternal plasma in anembryonic pregnancies: Confirmation that the origin is the trophoblast. Prenat. Diagn., 2007, 27(5), 415-418.
[http://dx.doi.org/10.1002/pd.1700] [PMID: 17286310]
[27]
Fan, H.C.; Blumenfeld, Y.J.; Chitkara, U.; Hudgins, L.; Quake, S.R. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc. Natl. Acad. Sci. USA, 2008, 105(42), 16266-16271.
[http://dx.doi.org/10.1073/pnas.0808319105] [PMID: 18838674]
[28]
Palomaki, G.E.; Kloza, E.M.; Lambert-Messerlian, G.M.; Haddow, J.E.; Neveux, L.M.; Ehrich, M.; van den Boom, D.; Bombard, A.T.; Deciu, C.; Grody, W.W.; Nelson, S.F.; Canick, J.A. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet. Med., 2011, 13(11), 913-920.
[http://dx.doi.org/10.1097/GIM.0b013e3182368a0e] [PMID: 22005709]
[29]
American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet. Gynecol., 2012, 120(6), 1532-1534.
[http://dx.doi.org/10.1097/01.AOG.0000423819.85283.f4] [PMID: 23168792]
[30]
Practice bulletin no. 163: Screening for fetal aneuploidy. Obstet. Gynecol., 2016, 127(5), e123-e137.
[http://dx.doi.org/10.1097/AOG.0000000000001406] [PMID: 26938574]
[31]
Kozlowski, P.; Burkhardt, T.; Gembruch, U.; Gonser, M.; Kähler, C.; Kagan, K.O.; von Kaisenberg, C.; Klaritsch, P.; Merz, E.; Steiner, H.; Tercanli, S.; Vetter, K.; Schramm, T. DEGUM, OGUM, SGUM and FMF Germany recommendations for the implementation of first-trimester screening, detailed ultrasound, cell-free DNA screening and diagnostic procedures. Ultraschall Med., 2019, 40(2), 176-193.
[http://dx.doi.org/10.1055/a-0631-8898] [PMID: 30001568]
[32]
Rieder, W.; White, S.; McGillivray, G.; Hui, L. Contemporary prenatal aneuploidy screening practice in Australia: Frequently asked questions in the cell-free DNA era. Aust. N. Z. J. Obstet. Gynaecol., 2018, 58(4), 397-403.
[http://dx.doi.org/10.1111/ajo.12834] [PMID: 29900540]
[33]
Audibert, F.; Gagnon, A.; Douglas Wilson, R.; Audibert, F.; Blight, C.; Brock, J-A.; Cartier, L.; Désilets, V.A.; Gagnon, A.; Johnson, J-A.; Langlois, S.; Murphy-Kaulbeck, L.; Okun, N.; Pastuck, M.; Senikas, V.; Langlois, S.; Chitayat, D.; Désilets, V.A.; Geraghty, M.T.; Marcadier, J.; Nelson, T.N.; Skidmore, D.; Siu, V.; Tihy, F. Prenatal screening for and diagnosis of aneuploidy in twin pregnancies. J. Obstet. Gynaecol. Can., 2011, 33(7), 754-767.
[http://dx.doi.org/10.1016/S1701-2163(16)34963-5] [PMID: 21749753]
[34]
Sieroszewski, P.; Wielgos, M.; Radowicki, S.; Sasiadek, M.; Borowiec, M.; Borowski, D.; Jakubowski, L.; Kaczmarek, P.; Latos-Bielenska, A.; Laudanski, P.; Nowakowska, B.; Oszukowski, P.; Pietryga, M.; Piotrowski, K.; Preis, K.; Ropacka-Lesiak, M.; Wegrzyn, P.; Moczulska, H. Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society. Eur. J. Obstet. Gynecol. Reprod. Biol., 2017, 214, 190-191.
[http://dx.doi.org/10.1016/j.ejogrb.2017.05.009] [PMID: 28535908]
[35]
Salomon, L.J.; Alfirevic, Z.; Audibert, F.; Kagan, K.O.; Paladini, D.; Yeo, G.; Raine-Fenning, N. ISUOG updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice. Ultrasound Obstet. Gynecol., 2017, 49(6), 815-816.
[http://dx.doi.org/10.1002/uog.17483] [PMID: 28573775]
[36]
Gregg, A.R.; Skotko, B.G.; Benkendorf, J.L.; Monaghan, K.G.; Bajaj, K.; Best, R.G.; Klugman, S.; Watson, M.S. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A position statement of the American College of Medical Genetics and Genomics. Genet. Med., 2016, 18(10), 1056-1065.
[http://dx.doi.org/10.1038/gim.2016.97] [PMID: 27467454]
[37]
Dondorp, W.; de Wert, G.; Bombard, Y.; Bianchi, D.W.; Bergmann, C.; Borry, P.; Chitty, L.S.; Fellmann, F.; Forzano, F.; Hall, A.; Henneman, L.; Howard, H.C.; Lucassen, A.; Ormond, K.; Peterlin, B.; Radojkovic, D.; Rogowski, W.; Soller, M.; Tibben, A.; Tranebjærg, L.; van El, C.G.; Cornel, M.C. Non-invasive prenatal testing for aneuploidy and beyond: Challenges of responsible innovation in prenatal screening. Eur. J. Hum. Genet., 2015, 23(11), 1438-1450.
[http://dx.doi.org/10.1038/ejhg.2015.57] [PMID: 25782669]
[38]
Ingvoldstad Malmgren, C.; Iwarsson, E.; Juth, N.; Lindgren, P. NIPT – implentation, counselling and ethical issues. Lakartidningen, 2017, 114, 1-4.
[PMID: 28463390]
[39]
Benn, P.; Borrell, A.; Chiu, R.W.; Cuckle, H.; Dugoff, L.; Faas, B.; Gross, S.; Huang, T.; Johnson, J.; Maymon, R.; Norton, M.; Odibo, A.; Schielen, P.; Spencer, K.; Wright, D.; Yaron, Y. Position statement from the chromosome abnormality screening committee on behalf of the Board of the International Society for prenatal diagnosis. Prenat. Diagn., 2015, 35(8), 725-734.
[http://dx.doi.org/10.1002/pd.4608] [PMID: 25970088]
[40]
Hu, Z.; Chen, H.; Long, Y.; Li, P.; Gu, Y. The main sources of circulating cell-free DNA: Apoptosis, necrosis and active secretion. Crit. Rev. Oncol. Hematol., 2021, 157, 103166.
[http://dx.doi.org/10.1016/j.critrevonc.2020.103166] [PMID: 33254039]
[41]
Lo, Y.M.; Tein, M.S.; Lau, T.K.; Haines, C.J.; Leung, T.N.; Poon, P.M.; Wainscoat, J.S.; Johnson, P.J.; Chang, A.M.; Hjelm, N.M. Quantitative analysis of fetal DNA in maternal plasma and serum: Implications for noninvasive prenatal diagnosis. Am. J. Hum. Genet., 1998, 62(4), 768-775.
[http://dx.doi.org/10.1086/301800] [PMID: 9529358]
[42]
Shi, J.; Zhang, R.; Li, J.; Zhang, R. Size profile of cell-free DNA: A beacon guiding the practice and innovation of clinical testing. Theranostics, 2020, 10(11), 4737-4748.
[http://dx.doi.org/10.7150/thno.42565] [PMID: 32308746]
[43]
Sun, K.; Jiang, P.; Wong, A.I.C.; Cheng, Y.K.Y.; Cheng, S.H.; Zhang, H.; Chan, K.C.A.; Leung, T.Y.; Chiu, R.W.K.; Lo, Y.M.D. Size-tagged preferred ends in maternal plasma DNA shed light on the production mechanism and show utility in noninvasive prenatal testing. Proc. Natl. Acad. Sci. USA, 2018, 115(22), E5106-E5114.
[http://dx.doi.org/10.1073/pnas.1804134115] [PMID: 29760053]
[44]
Chandrananda, D.; Thorne, N.P.; Bahlo, M. High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA. BMC Med. Genomics, 2015, 8(1), 29.
[http://dx.doi.org/10.1186/s12920-015-0107-z] [PMID: 26081108]
[45]
Chan, C.A.; Jaing, P.; Sun, K. Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends. Proc. Natl. Acad. Sci. USA, 2016, 113(50), E8159-E8168.
[http://dx.doi.org/10.1073/pnas.1615800113]
[46]
Hu, P.; Liang, D.; Chen, Y.; Lin, Y.; Qiao, F.; Li, H.; Wang, T.; Peng, C.; Luo, D.; Liu, H.; Xu, Z. An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for non-invasive prenatal screening: A feasibility study. J. Transl. Med., 2019, 17(1), 124.
[http://dx.doi.org/10.1186/s12967-019-1871-x] [PMID: 30975179]
[47]
Liang, B.; Li, H.; He, Q.; Li, H.; Kong, L.; Xuan, L.; Xia, Y.; Shen, J.; Mao, Y.; Li, Y.; Wang, T.; Zhao, Y.L. Enrichment of the fetal fraction in non-invasive prenatal screening reduces maternal background interference. Sci. Rep., 2018, 8(1), 17675.
[http://dx.doi.org/10.1038/s41598-018-35738-0] [PMID: 30518878]
[48]
Borth, H.; Teubert, A.; Glaubitz, R.; Knippenberg, S.; Kutur, N.; Winkler, T.; Eiben, B. Analysis of cell-free DNA in a consecutive series of 13,607 routine cases for the detection of fetal chromosomal aneuploidies in a single center in Germany. Arch. Gynecol. Obstet., 2021, 303(6), 1407-1414.
[http://dx.doi.org/10.1007/s00404-020-05856-0] [PMID: 33151425]
[49]
He, Q.Z.; Wu, X.J.; He, Q.Y.; Xiang, J.J.; Zhang, C.H.; Lu, L.; Wang, T.; Li, H. A method for improving the accuracy of non-invasive prenatal screening by cell-free foetal DNA size selection. Br. J. Biomed. Sci., 2018, 75(3), 133-138.
[http://dx.doi.org/10.1080/09674845.2018.1468152] [PMID: 29968522]
[50]
Canick, J.A.; Palomaki, G.E.; Kloza, E.M.; Lambert-Messerlian, G.M.; Haddow, J.E. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat. Diagn., 2013, 33(7), 667-674.
[http://dx.doi.org/10.1002/pd.4126] [PMID: 23592541]
[51]
Hou, Y.; Yang, J.; Qi, Y.; Guo, F.; Peng, H.; Wang, D.; Wang, Y.; Luo, X.; Li, Y.; Yin, A. Factors affecting cell-free DNA fetal fraction: Statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening. Hum. Genomics, 2019, 13(1), 62.
[http://dx.doi.org/10.1186/s40246-019-0244-0] [PMID: 31801621]
[52]
Scott, F.P.; Menezes, M.; Palma-Dias, R.; Nisbet, D.; Schluter, P.; da Silva Costa, F.; McLennan, A.C. Factors affecting cell-free DNA fetal fraction and the consequences for test accuracy. J. Matern. Fetal Neonatal Med., 2018, 31(14), 1865-1872.
[http://dx.doi.org/10.1080/14767058.2017.1330881] [PMID: 28514925]
[53]
Sarno, L.; Revello, R.; Hanson, E.; Akolekar, R.; Nicolaides, K.H. Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy. Ultrasound Obstet. Gynecol., 2016, 47(6), 705-711.
[http://dx.doi.org/10.1002/uog.15913] [PMID: 26970114]
[54]
Costa, J.M.; Letourneau, A.; Favre, R.; Bidat, L.; Belaisch-Allart, J.; Jouannic, J.M.; Quarello, E.; Senat, M.V.; Broussin, B.; Tsatsaris, V.; Demain, A.; Kleinfinger, P.; Lohmann, L.; Agostini, H.; Bouyer, J.; Benachi, A. Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: A prospective interventional study. Genet. Med., 2018, 20(11), 1346-1353.
[http://dx.doi.org/10.1038/gim.2018.4] [PMID: 29493578]
[55]
Lo, Y.M.; Zhang, J.; Leung, T.N.; Lau, T.K.; Chang, A.M.; Hjelm, N.M. Rapid clearance of fetal DNA from maternal plasma. Am. J. Hum. Genet., 1999, 64(1), 218-224.
[http://dx.doi.org/10.1086/302205] [PMID: 9915961]
[56]
Chiu, R.W.; Chan, K.C.; Gao, Y.; Lau, V.Y.; Zheng, W.; Leung, T.Y.; Foo, C.H.; Xie, B.; Tsui, N.B.; Lun, F.M.; Zee, B.C.; Lau, T.K.; Cantor, C.R.; Lo, Y.M. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc. Natl. Acad. Sci. USA, 2008, 105(51), 20458-20463.
[http://dx.doi.org/10.1073/pnas.0810641105] [PMID: 19073917]
[57]
Sikkema-Raddatz, B.; Johansson, L.F.; de Boer, E.N.; Boon, E.M.; Suijkerbuijk, R.F.; Bouman, K.; Bilardo, C.M.; Swertz, M.A.; Dijkstra, M.; van Langen, I.M.; Sinke, R.J.; Te Meerman, G.J. NIPTRIC: An online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results. Sci. Rep., 2016, 6(1), 38359.
[http://dx.doi.org/10.1038/srep38359] [PMID: 27917919]
[58]
Sparks, A.B.; Struble, C.A.; Wang, E.T.; Song, K.; Oliphant, A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: Evaluation for trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol., 2012, 206(4), 319.e1-319.e9.
[http://dx.doi.org/10.1016/j.ajog.2012.01.030] [PMID: 22464072]
[59]
Kotsopoulou, I.; Tsoplou, P.; Mavrommatis, K.; Kroupis, C. Non-invasive prenatal testing (NIPT): Limitations on the way to become diagnosis. Diagnosis (Berl.), 2015, 2(3), 141-158.
[http://dx.doi.org/10.1515/dx-2015-0002] [PMID: 29540035]
[60]
Caswell, R.C.; Snowsill, T.; Houghton, J.A.L.; Chakera, A.J.; Shepherd, M.H.; Laver, T.W.; Knight, B.A.; Wright, D.; Hattersley, A.T.; Ellard, S. Noninvasive fetal genotyping by droplet digital PCR to identify maternally inherited monogenic diabetes Variants. Clin. Chem., 2020, 66(7), 958-965.
[http://dx.doi.org/10.1093/clinchem/hvaa104] [PMID: 32533152]
[61]
Norton, M.E.; Brar, H.; Weiss, J. Non-Invasive Chromosomal Evaluation (NICE) Study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol., 2012, 207(2), e1-e8.
[62]
Sparks, A.B.; Wang, E.T.; Struble, C.A.; Barrett, W.; Stokowski, R.; McBride, C.; Zahn, J.; Lee, K.; Shen, N.; Doshi, J.; Sun, M.; Garrison, J.; Sandler, J.; Hollemon, D.; Pattee, P.; Tomita-Mitchell, A.; Mitchell, M.; Stuelpnagel, J.; Song, K.; Oliphant, A. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat. Diagn., 2012, 32(1), 3-9.
[http://dx.doi.org/10.1002/pd.2922] [PMID: 22223233]
[63]
Ashoor, G.; Syngelaki, A.; Wagner, M.; Birdir, C.; Nicolaides, K.H. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol., 2012, 206(4), 322.e1-322.e5.
[http://dx.doi.org/10.1016/j.ajog.2012.01.029] [PMID: 22464073]
[64]
Boon, E.M.; Faas, B.H. Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies. Prenat. Diagn., 2013, 33(6), 563-568.
[http://dx.doi.org/10.1002/pd.4111] [PMID: 23613171]
[65]
Liao, G.J.; Chan, K.C.; Jiang, P.; Sun, H.; Leung, T.Y.; Chiu, R.W.; Lo, Y.M. Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA. PLoS One, 2012, 7(5), e38154.
[http://dx.doi.org/10.1371/journal.pone.0038154] [PMID: 22666469]
[66]
Zimmermann, B.; Hill, M.; Gemelos, G.; Demko, Z.; Banjevic, M.; Baner, J.; Ryan, A.; Sigurjonsson, S.; Chopra, N.; Dodd, M.; Levy, B.; Rabinowitz, M. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat. Diagn., 2012, 32(13), 1233-1241.
[http://dx.doi.org/10.1002/pd.3993] [PMID: 23108718]
[67]
Dar, P.; Curnow, K.J.; Gross, S.J. Clinical experience and follow up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing. Am. J. Obstet. Gynecol., 2014, 211(5), 527.
[http://dx.doi.org/10.1016/j.ajog.2014.08.006]
[68]
Talbot, A.L.; Ambye, L.; Hartwig, T.S.; Werge, L.; Sørensen, S.; Stormlund, S.; Prætorius, L.; Jørgensen, H.L.; Pinborg, A.; Jørgensen, F.S. Fetal fraction of cell-free DNA in pregnancies after fresh or frozen embryo transfer following assisted reproductive technologies. Hum. Reprod., 2020, 35(6), 1267-1275.
[http://dx.doi.org/10.1093/humrep/deaa110] [PMID: 32539141]
[69]
Zou, Y.; Cui, L.; Xue, M.; Yan, J.; Huang, M.; Gao, M.; Gao, X.; Gao, Y.; Chen, Z.J. Applications of noninvasive prenatal testing in vanishing twin syndrome pregnancies after treatment of assisted reproductive technology in a single center. Prenat. Diagn., 2021, 41(2), 226-233.
[http://dx.doi.org/10.1002/pd.5836] [PMID: 33009680]
[70]
Tan, Y.; Gao, Y.; Lin, G.; Fu, M.; Li, X.; Yin, X.; Du, J.; Li, J.; Li, W.; Peng, H.; Yuan, Y.; Chen, F.; Jiang, F.; Zhang, H.; Lu, G.; Gong, F.; Wang, W. Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center. Prenat. Diagn., 2016, 36(7), 672-679.
[http://dx.doi.org/10.1002/pd.4837] [PMID: 27150972]
[71]
Lee, T.J.; Rolnik, D.L.; Menezes, M.A.; McLennan, A.C.; da Silva Costa, F. Cell-free fetal DNA testing in singleton IVF conceptions. Hum. Reprod., 2018, 33(4), 572-578.
[http://dx.doi.org/10.1093/humrep/dey033] [PMID: 29462319]
[72]
Tian, Y.; Zhang, L.; Tian, W.; Gao, J.; Jia, L.; Cui, S. Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform. Mol. Cytogenet., 2018, 11(1), 49.
[http://dx.doi.org/10.1186/s13039-018-0397-x] [PMID: 30159034]
[73]
Yared, E.; Dinsmoor, M.J.; Endres, L.K. Obesity increases the risk of failure of noninvasive prenatal screening regardless of gestational age. Am. J. Obstet. Gynecol., 2016, 215(3), 370.
[http://dx.doi.org/10.1016/j.ajog.2016.03.018]
[74]
Revello, R.; Sarno, L.; Ispas, A.; Akolekar, R.; Nicolaides, K.H. Screening for trisomies by cell-free DNA testing of maternal blood: Consequences of a failed result. Ultrasound Obstet. Gynecol., 2016, 47(6), 698-704.
[http://dx.doi.org/10.1002/uog.15851] [PMID: 26743020]
[75]
Pergament, E.; Cuckle, H.; Zimmermann, B.; Banjevic, M.; Sigurjonsson, S.; Ryan, A.; Hall, M.P.; Dodd, M.; Lacroute, P.; Stosic, M.; Chopra, N.; Hunkapiller, N.; Prosen, D.E.; McAdoo, S.; Demko, Z.; Siddiqui, A.; Hill, M.; Rabinowitz, M. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet. Gynecol., 2014, 124(2 Pt 1), 210-218.
[http://dx.doi.org/10.1097/AOG.0000000000000363] [PMID: 25004354]
[76]
Norton, M.E.; Jacobsson, B.; Swamy, G.K.; Laurent, L.C.; Ranzini, A.C.; Brar, H.; Tomlinson, M.W.; Pereira, L.; Spitz, J.L.; Hollemon, D.; Cuckle, H.; Musci, T.J.; Wapner, R.J. Cell-free DNA analysis for noninvasive examination of trisomy. N. Engl. J. Med., 2015, 372(17), 1589-1597.
[http://dx.doi.org/10.1056/NEJMoa1407349] [PMID: 25830321]
[77]
Mohan, P.; Lemoine, J.; Trotter, C.; Rakova, I.; Billings, P.; Peacock, S.; Kao, C.Y.; Wang, Y.; Xia, F.; Eng, C.M.; Benn, P. Clinical experience with non-invasive prenatal screening for single-gene disorders. Ultrasound Obstet. Gynecol., 2022, 59(1), 33-39.
[http://dx.doi.org/10.1002/uog.23756] [PMID: 34358384]
[78]
Samura, O. Update on noninvasive prenatal testing: A review based on current worldwide research. J. Obstet. Gynaecol. Res., 2020, 46(8), 1246-1254.
[http://dx.doi.org/10.1111/jog.14268] [PMID: 32558079]
[79]
Curnow, K.J.; Wilkins-Haug, L.; Ryan, A. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. Am. J. Obstet. Gynecol., 2015, 212(1), 79.
[http://dx.doi.org/10.1016/j.ajog.2014.10.012]
[80]
Bianchi, D.W.; Chudova, D.; Sehnert, A.J.; Bhatt, S.; Murray, K.; Prosen, T.L.; Garber, J.E.; Wilkins-Haug, L.; Vora, N.L.; Warsof, S.; Goldberg, J.; Ziainia, T.; Halks-Miller, M. Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA, 2015, 314(2), 162-169.
[http://dx.doi.org/10.1001/jama.2015.7120] [PMID: 26168314]
[81]
Rolnik, D.L.; da Silva Costa, F.; Lee, T.J.; Schmid, M.; McLennan, A.C. Association between fetal fraction on cell-free DNA testing and first-trimester markers for pre-eclampsia. Ultrasound Obstet. Gynecol., 2018, 52(6), 722-727.
[http://dx.doi.org/10.1002/uog.18993] [PMID: 29318732]
[82]
Hartwig, T.S.; Ambye, L.; Werge, L.; Weiergang, M.K.; Nørgaard, P.; Sørensen, S.; Jørgensen, F.S. Non-Invasive Prenatal Testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results. Eur. J. Obstet. Gynecol. Reprod. Biol., 2018, 226, 35-39.
[http://dx.doi.org/10.1016/j.ejogrb.2018.04.042] [PMID: 29804026]
[83]
Peng, X.L.; Jiang, P. Bioinformatics approaches for fetal DNA fraction estimation in noninvasive prenatal testing. Int. J. Mol. Sci., 2017, 18(2), 453.
[http://dx.doi.org/10.3390/ijms18020453] [PMID: 28230760]
[84]
Bourgain, C.; Devroey, P. The endometrium in stimulated cycles for IVF. Hum. Reprod. Update, 2003, 9(6), 515-522.
[http://dx.doi.org/10.1093/humupd/dmg045] [PMID: 14714588]
[85]
Wei, D.; Ma, J.; Chen, Z.J. Fresh versus frozen embryo transfer in PCOS: Arguments for and against. Semin. Reprod. Med., 2017, 35(4), 359-363.
[http://dx.doi.org/10.1055/s-0037-1606383] [PMID: 29036743]
[86]
Chen, Z.J.; Shi, Y.; Sun, Y.; Zhang, B.; Liang, X.; Cao, Y.; Yang, J.; Liu, J.; Wei, D.; Weng, N.; Tian, L.; Hao, C.; Yang, D.; Zhou, F.; Shi, J.; Xu, Y.; Li, J.; Yan, J.; Qin, Y.; Zhao, H.; Zhang, H.; Legro, R.S. Fresh versus frozen embryos for infertility in the polycystic ovary syndrome. N. Engl. J. Med., 2016, 375(6), 523-533.
[http://dx.doi.org/10.1056/NEJMoa1513873] [PMID: 27509101]
[87]
De Geyter, C.; Calhaz-Jorge, C.; Kupka, M.S. European IVF-monitoring Consortium (EIM) for the European Society of Human Reproduction and Embryology (ESHRE), ART in Europe, 2015: Results generated from European registries by ESHRE. Hum. Reprod. Open, 2020, 2020(3), hoaa038.
[88]
Sunderam, S.; Kissin, D.M.; Zhang, Y.; Jewett, A.; Boulet, S.L.; Warner, L.; Kroelinger, C.D.; Barfield, W.D. Assisted reproductive technology surveillance - United States, 2017. MMWR Surveill. Summ., 2020, 69(9), 1-20.
[http://dx.doi.org/10.15585/mmwr.ss6909a1] [PMID: 33332294]
[89]
Palomaki, G.E.; Chiu, R.W.K.; Pertile, M.D. International Society for Prenatal Diagnosis Position Statement: Cell free (cf)DNA screening for Down syndrome in multiple pregnancies. Prenat. Diagn., 2021, 41(10), 1222-1232.
[PMID: 33016373]
[90]
Hedriana, H.; Martin, K.; Saltzman, D.; Billings, P.; Demko, Z.; Benn, P. Cell-free DNA fetal fraction in twin gestations in single-nucleotide polymorphism-based noninvasive prenatal screening. Prenat. Diagn., 2020, 40(2), 179-184.
[http://dx.doi.org/10.1002/pd.5609] [PMID: 31711265]
[91]
Canick, J.A.; Kloza, E.M.; Lambert-Messerlian, G.M.; Haddow, J.E.; Ehrich, M.; van den Boom, D.; Bombard, A.T.; Deciu, C.; Palomaki, G.E. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat. Diagn., 2012, 32(8), 730-734.
[http://dx.doi.org/10.1002/pd.3892] [PMID: 22585317]
[92]
Struble, C.A.; Syngelaki, A.; Oliphant, A.; Song, K.; Nicolaides, K.H. Fetal fraction estimate in twin pregnancies using directed cell-free DNA analysis. Fetal Diagn. Ther., 2014, 35(3), 199-203.
[http://dx.doi.org/10.1159/000355653] [PMID: 24356438]
[93]
Norwitz, E.R.; McNeill, G.; Kalyan, A.; Rivers, E.; Ahmed, E.; Meng, L.; Vu, P.; Egbert, M.; Shapira, M.; Kobara, K.; Parmar, S.; Goel, S.; Prins, S.A.; Aruh, I.; Persico, N.; Robins, J.C.; Kirshon, B.; Demko, Z.P.; Ryan, A.; Billings, P.R.; Rabinowitz, M.; Benn, P.; Martin, K.A.; Hedriana, H.L. Validation of a single-nucleotide polymorphism-based non-invasive prenatal test in twin gestations: Determination of Zygosity, individual fetal sex, and fetal aneuploidy. J. Clin. Med., 2019, 8(7), 937.
[http://dx.doi.org/10.3390/jcm8070937] [PMID: 31261782]
[94]
Huang, X.; Zheng, J.; Chen, M.; Zhao, Y.; Zhang, C.; Liu, L.; Xie, W.; Shi, S.; Wei, Y.; Lei, D.; Xu, C.; Wu, Q.; Guo, X.; Shi, X.; Zhou, Y.; Liu, Q.; Gao, Y.; Jiang, F.; Zhang, H.; Su, F.; Ge, H.; Li, X.; Pan, X.; Chen, S.; Chen, F.; Fang, Q.; Jiang, H.; Lau, T.K.; Wang, W. Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies. Prenat. Diagn., 2014, 34(4), 335-340.
[http://dx.doi.org/10.1002/pd.4303] [PMID: 24357023]
[95]
Kamath, M.S.; Antonisamy, B.; Selliah, H.Y.; Sunkara, S.K. Perinatal outcomes of singleton live births with and without vanishing twin following transfer of multiple embryos: Analysis of 113 784 singleton live births. Hum. Reprod., 2018, 33(11), 2018-2022.
[http://dx.doi.org/10.1093/humrep/dey284] [PMID: 30219900]
[96]
Melissa, K. Maisenbacher; Goldring, Georgina; Nonno, Wendy Di; Ryan, Allison Donor oocyte pregnancies and fetal fraction: Managing patient expectations and providing accurate information. Poster Session Fertility Sterility, 2019, 112(3), e120.
[97]
Toft, C.L.F.; Diemer, T.; Ingerslev, H.J.; Pedersen, I.S.; Adrian, S.W.; Kesmodel, U.S. Patients’ choices and opinions on chorionic villous sampling and non-invasive alternatives for prenatal testing following preimplantation genetic testing for hereditary disorders: A cross-sectional questionnaire study. Prenat. Diagn., 2022, 42(2), 212-225.
[http://dx.doi.org/10.1002/pd.6088] [PMID: 34997771]

Rights & Permissions Print Cite
Article Metrics
3
© 2024 Bentham Science Publishers | Privacy Policy