Early diagnosis of trisomy 21, trisomy 18 and trisomy 13 using nuchal translucency thickness and ductus venosus blood flow waveform in West China

Tang,Ying; Luo,Hong; Mu,Dezhi; Yang,Taizhu; Zhu,Qi; Yang,Fan; Liu,Guanjian

doi:10.3892/mmr.2018.9756

Early diagnosis of trisomy 21, trisomy 18 and trisomy 13 using nuchal translucency thickness and ductus venosus blood flow waveform in West China

Authors:
- Ying Tang
- Hong Luo
- Dezhi Mu
- Taizhu Yang
- Qi Zhu
- Fan Yang
- Guanjian Liu
View Affiliations

Affiliations: Department of Ultrasonography, West China Women and Children Hospital Affiliated to Sichuan University, Chengdu, Sichuan 610041, P.R. China, Key Laboratory of Birth Defects and Related Disease of Women and Children, Ministry of Education, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P.R. China, Department of Evidence‑Based Medicine and Clinical Epidemiology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P.R. China
Published online on: December 12, 2018 https://doi.org/10.3892/mmr.2018.9756
Pages: 1349-1355

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

Abnormal nuchal translucency (NT) thickness and ductus venosus (DV) blood flow have been associated with trisomy 21, 18 and 13. However, the association of abnormal DV with these aneuploidies varies among clinical studies. The present study examined the possibility of using NT combined with DV for the early diagnosis of the three aforementioned aneuploidies in the Western Chinese population, focusing on three aspects: Biological pathway analysis, theoretical statistical analysis and clinical data analysis from 1,962 first‑trimester pregnant women from Western China. The pathway and statistical analyses performed suggested the reliability of integrating NT and DV in the prediction of the three aneuploidies. The clinical data analysis suggested that integrating NT and DV, compared with NT alone, resulted in increased predictive power (34.09 vs. 22.45%), better rejection probability (0.21 vs. 0.44%), increased specificity (96.71 vs. 94.07%) and increased sensitivity (89.47 vs. 80.49%). The present results suggested the reliability of integrating NT and DV for the early diagnosis of trisomy 21, 18 and 13 for the Western Chinese population. The present results provided novel statistical analyses to the field of prenatal diagnosis in the Western Chinese population.

View Figures

View References

1	Mavrides E, Moscoso G, Carvalho JS, Campbell S and Thila-ganathan B: The human ductus venosus between 13 and 17 weeks of gestation: Histological and morphometric studies. Ultrasound Obstet Gynecol. 19:39–46. 2002. View Article : Google Scholar : PubMed/NCBI
2	Kiserud T, Eik-Nes S, Blass HG and Hellevik LR: Ultrasonographic velocimetry of the fetal ductus venosus. Lancet. 338:1412–1414. 1991. View Article : Google Scholar : PubMed/NCBI
3	Hyett JA, Brizot ML, Von Kaisenberg C, Mckie AT, Farzanah F and Nicolaides KH: Cardiac gene expression of atrial natriuretic factorand brain natriuretic peptide in trisomic fetuses. Obstet Gynecol. 87:506–510. 1996. View Article : Google Scholar : PubMed/NCBI
4	Della Ragione F, Mastrovito P, Campanile C, Conti A, Papageorgiou EA, Hultén MA, Patsalis PC, Carter NP and D'Esposito M: Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies. J Mol Diagn. 12:797–807. 2010. View Article : Google Scholar : PubMed/NCBI
5	Syngelaki A, Guerra L, Ceccacci I, Efeturk T and Nicolaides KH: Impact of holoprosencephaly, exomphalos, megacystis and high NTT in first trimester screening for chromosomal abnormalities. Ultrasound Obstet Gynecol. 50:45–48. 2017. View Article : Google Scholar : PubMed/NCBI
6	Vinkesteijn AS, Ursem NT, Struijk PC and Wladimiroff JW: Fetal heart rate and blood flow velocity variability in the presence of increased nuchal translucency: A preliminary study. Ultrasound Obstet Gynecol. 23:19–22. 2004. View Article : Google Scholar : PubMed/NCBI
7	Witters I and Fryns JR: Fetal nuchal translucency thickness. Genet Couns. 18:1–7. 2007.PubMed/NCBI
8	Maiz N and Nicolaides KH: Ductus venosus in the first trimester: Contribution to screening of chromosomal, cardiac defects and monochorionic twin complications. Fetal Diagn Ther. 28:65–71. 2010. View Article : Google Scholar : PubMed/NCBI
9	Martínez JM, Comas M, Borrell A, Bennasar M, Gómez O, Puerto B and Gratacós E: Abnormal first-trimester ductus venosus blood flow: A marker of cardiac defects in fetuses with normal karyotype and nuchal translucency. Ultrasound Obstet Gynecol. 35:267–272. 2010. View Article : Google Scholar : PubMed/NCBI
10	Maiz N, Valencia C, Kagan KO, Wright D and Nicolaides KH: Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol. 33:512–517. 2009. View Article : Google Scholar : PubMed/NCBI
11	Prefumo F, Sethna F, Sairam S, Bhide A and Thilaganathan B: First-trimester ductus venosus, nasal bones, and down syndrome in a high-risk population. Obstet Gynecol. 105:1348–1354. 2005. View Article : Google Scholar : PubMed/NCBI
12	Matias A, Gomes C, Flack N, Montenegro N and Nicolaides KH: Screening for chromosomal abnormalities at 10–14 weeks: The role of ductus venosus blood flow. Ultrasound Obstet Gynecol. 12:380–384. 1998. View Article : Google Scholar : PubMed/NCBI
13	Hsiao CH, Cheng PJ, Shaw SW, Hsu JJ, Chen RC, Tseng YJ and Chu WC: Extended first-trimester screening using multiple sonographic markers and maternal serum biochemistry: A five-year prospective study. Fetal Diagn Ther. 35:296–301. 2014. View Article : Google Scholar : PubMed/NCBI
14	Jagielski J and Skawiński W: The analysis and classification of chromosomes. I. Application of the Bayes' theorem. Mater Med Pol. 10:198–203. 1978.PubMed/NCBI
15	Nikitin A, Egorov S, Daraselia N and Mazo I: Pathway studio-the analysis and navigation of molecular networks. Bioinformatics. 19:2155–2157. 2003. View Article : Google Scholar : PubMed/NCBI
16	Novichkova S, Egorov S and Daraselia N: MedScan, a natural language processing engine for MEDLINE abstracts. Bioinformatics. 19:1699–1706. 2003. View Article : Google Scholar : PubMed/NCBI
17	Harris LH: Rethinking maternal-fetal conflict: Gender and equality in perinatal ethics. Obstet Gynecol. 96:786–791. 2000. View Article : Google Scholar : PubMed/NCBI
18	Murta CG, Moron AF, Avila MA and Weiner CP: Application of ductus venosus Doppler velocimetry for the detection of fetal aneuploidyin the first trimester of pregnancy. Fetal Diagn Ther. 17:308–314. 2002. View Article : Google Scholar : PubMed/NCBI
19	Zoppi MA, Putzolu M, Ibba RM, Floris M and Monni G: First-trimester ductus venosus velocimetry in relation to nuchal translucency thickness and fetal karyotype. Fetal Diagn Ther. 17:52–57. 2002. View Article : Google Scholar : PubMed/NCBI
20	Borrell A, Martinez JM, Seres A, Borobio V, Cararach V and Fortuny A: Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy. Prenat Diagn. 23:921–926. 2003. View Article : Google Scholar : PubMed/NCBI
21	Antolin E, Comas C, Torrents M, Muñoz A, Figueras F, Echevarria M, Cararach M and Carrera JM: The role of ductus venosus bloodflow assessment in screening for chromosomal abnormalities at 10–16 weeks of gestation. Ultrasound Obstet Gynecol. 17:295–300. 2001. View Article : Google Scholar : PubMed/NCBI
22	Toyama JM, Brizot ML, Liao AW, Lopes LM, Nomura RM, Saldanha FA and Zugaib M: Ductus venosus blood flow assessment at 11 to 14 weeks of gestation and fetal outcome. Ultrasound Obstet Gynecol. 23:341–345. 2004. View Article : Google Scholar : PubMed/NCBI
23	Stressig R, Kozlowski P, Froehlich S, Siegmann HJ, Hammer R, Blumenstock G and Kagan KO: Assessment of the ductus venosus, tricuspid blood flow and the nasal bone in second-trimester screening for trisomy 21. Ultrasound Obstet Gynecol. 37:444–449. 2011. View Article : Google Scholar : PubMed/NCBI
24	Wagner P, Sonek J, Hoopmann M, Abele H and Kagan KO: First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan. Ultrasound Obstet Gynecol. 48:446–451. 2016. View Article : Google Scholar : PubMed/NCBI
25	Abdelmoez A, Coraça-Huber DC, Thurner GC, Debbage P, Lukas P, Skvortsov S and Skvortsova II: Screening and identification of molecular targets for cancer therapy. Cancer Lett. 387:3–9. 2017. View Article : Google Scholar : PubMed/NCBI