Application Value of NIPT for Uncommon Fetal Chromosomal Abnormalities

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2020 Sep 3

PMID 32874204

Citations 9

Authors

Lianli Yin

Yinghua Tang

Qing Lu

Aiping Pan

Mingfang Shi

Affiliations

Soon will be listed here.

Abstract

Objective: To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.

Methods: The study included 6239 pregnant women with singletons in the first and second trimester of pregnancy who received NIPT from December 2017 to June 2019. For pregnant women at high risk of deletion, duplication, and sex chromosome abnormalities indicated by NIPT, amniocentesis was recommended for karyotype analysis and chromosome copy number variation detection to verify the NIPT results and analyze chromosome abnormalities. Women at low risk and with no other abnormal results continued with their pregnancies.

Results: Among the 6239 pregnant women who received NIPT, there were 15 cases of chromosomal deletion (12 cases confirmed by amniocentesis), 16 cases of chromosomal duplication (9 cases confirmed by amniocentesis), and 17 cases of sex chromosome abnormalities (11 cases confirmed by amniocentesis). Of these cases, 32 were finally confirmed by amniotic fluid cell karyotype analysis. The coincidence rate was 66.7% (32/48). There were no abnormalities found for the remaining low risk pregnant women during follow-up.

Conclusion: NIPT has good application value in predicting fetal chromosomal deletion, duplication, and sex chromosome abnormalities. It can improve the detection rate of fetal chromosomal abnormalities, but further prenatal diagnosis is needed.

Citing Articles

Diagnosis, treatment, and research status of rare diseases related to birth defects.

Zhao H, Du C, Yang G, Wang Y Intractable Rare Dis Res. 2023; 12(3):148-160.

PMID: 37662624 PMC: 10468410. DOI: 10.5582/irdr.2023.01052.

Reappraisal of evolving methods in non-invasive prenatal screening: Discovery, biology and clinical utility.

Rather R, Saha S Heliyon. 2023; 9(3):e13923.

PMID: 36879971 PMC: 9984859. DOI: 10.1016/j.heliyon.2023.e13923.

Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies.

Xue H, Yu A, Lin M, Chen X, Guo Q, Xu L Sci Rep. 2022; 12(1):19750.

PMID: 36396840 PMC: 9672043. DOI: 10.1038/s41598-022-24337-9.

Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.

Kwan A, Zhu X, Gil M, Kwok Y, Wah I, Hui A Diagnostics (Basel). 2022; 12(10).

PMID: 36292129 PMC: 9600475. DOI: 10.3390/diagnostics12102439.

Non-invasive prenatal testing for the detection of trisomy 13, 18, and 21 and sex chromosome aneuploidies in 68,763 cases.

Zhang Y, Xu H, Zhang W, Liu K Front Genet. 2022; 13:864076.

PMID: 36186462 PMC: 9522523. DOI: 10.3389/fgene.2022.864076.

References

Li L, Zhang H, Yang Y, Zhang H, Wang R, Jiang Y . High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46,XY mosaicism. Braz J Med Biol Res. 2020; 53(3):e8980. PMC: 7025455. DOI: 10.1590/1414-431X20198980. View

Porreco R, Garite T, Maurel K, Marusiak B, Ehrich M, Van Den Boom D . Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol. 2014; 211(4):365.e1-12. DOI: 10.1016/j.ajog.2014.03.042. View

Lo Y . Screening of Fetal Chromosomal Aneuploidy by Noninvasive Prenatal Testing: From Innovation to Setting Public Health Agendas to Potential Impact on Other Fields. Clin Chem. 2019; 66(1):25-28. DOI: 10.1373/clinchem.2019.303230. View

Sun X, Lu J, Ma X . An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21. PLoS One. 2019; 14(4):e0215368. PMC: 6461288. DOI: 10.1371/journal.pone.0215368. View

Joseph L, Farmer C, Chlebowski C, Henry L, Fish A, Mankiw C . Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome. J Neurodev Disord. 2018; 10(1):30. PMC: 6198503. DOI: 10.1186/s11689-018-9248-7. View

Zhao G, Dai P, Gao S, Zhao X, Wang C, Liu L . A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing. Mol Cytogenet. 2020; 12:53. PMC: 6925888. DOI: 10.1186/s13039-019-0464-y. View

Watson C, Marques-Bonet T, Sharp A, Mefford H . The genetics of microdeletion and microduplication syndromes: an update. Annu Rev Genomics Hum Genet. 2014; 15:215-244. PMC: 4476258. DOI: 10.1146/annurev-genom-091212-153408. View

Wang T, Duan C, Shen C, Xiang J, He Q, Ding J . Detection of complex deletions in chromosomes 13 and 21 in a fetus by noninvasive prenatal testing. Mol Cytogenet. 2016; 9:3. PMC: 4709980. DOI: 10.1186/s13039-016-0213-4. View

Vossaert L, Wang Q, Salman R, Zhuo X, Qu C, Henke D . Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing. Prenat Diagn. 2018; 38(13):1069-1078. PMC: 6587831. DOI: 10.1002/pd.5377. View

10.

Cheon C . Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome. Ann Pediatr Endocrinol Metab. 2016; 21(3):126-135. PMC: 5073158. DOI: 10.6065/apem.2016.21.3.126. View

11.

Yu W, Lv Y, Yin S, Liu H, Li X, Liang B . Screening of fetal chromosomal aneuploidy diseases using noninvasive prenatal testing in twin pregnancies. Expert Rev Mol Diagn. 2018; 19(2):189-196. DOI: 10.1080/14737159.2019.1562906. View

12.

Tong H, Jin Y, Xu Y, Zou B, Ye H, Wu H . Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications. Clin Genet. 2016; 90(5):451-455. DOI: 10.1111/cge.12772. View

13.

Chamberlain S, Lalande M . Angelman syndrome, a genomic imprinting disorder of the brain. J Neurosci. 2010; 30(30):9958-63. PMC: 6633366. DOI: 10.1523/JNEUROSCI.1728-10.2010. View

14.

Mennuti M, Cherry A, Morrissette J, Dugoff L . Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy?. Am J Obstet Gynecol. 2013; 209(5):415-9. DOI: 10.1016/j.ajog.2013.03.027. View

15.

Iwarsson E, Conner P . Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following combined first-trimester screening. Prenat Diagn. 2020; 40(7):852-859. DOI: 10.1002/pd.5698. View

16.

Dai R, Yu Y, Xi Q, Hu X, Zhu H, Liu R . Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China. Mol Cytogenet. 2019; 12:45. PMC: 6836356. DOI: 10.1186/s13039-019-0457-x. View

17.

. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016; 127(5):e123-e137. DOI: 10.1097/AOG.0000000000001406. View

18.

Nicolaides K . Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011; 31(1):7-15. DOI: 10.1002/pd.2637. View

19.

Okuno H, Nakabayashi K, Abe K, Ando T, Sanosaka T, Kohyama J . Changeability of the fully methylated status of the 15q11.2 region in induced pluripotent stem cells derived from a patient with Prader-Willi syndrome. Congenit Anom (Kyoto). 2016; 57(4):96-103. DOI: 10.1111/cga.12206. View

20.

Yin L, Tang Y, Lu Q, Shi M, Pan A, Chen D . Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15. J Clin Lab Anal. 2019; 33(6):e22911. PMC: 6642313. DOI: 10.1002/jcla.22911. View