述评

以科学态度推动遗传检测新技术在胎儿疾病筛查中的应用

  • 戚庆炜
展开
  • 中国医学科学院北京协和医院产科中心(北京 100730)

收稿日期: 2024-04-07

  网络出版日期: 2024-05-10

Promoting the application of new genetic testing technologies in the screening of fetal diseases with a scientific attitude

  • Qingwei QI
Expand
  • Department of Obstetrics, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing 100730, China

Received date: 2024-04-07

  Online published: 2024-05-10

摘要

随着二代测序技术的发展,胎儿遗传性疾病的产前筛查范围已从常见染色体非整倍体扩展到染色体微缺失/微重复综合征和单基因病,筛查策略也从仅针对染色体异常逐渐进展至对胎儿染色体非整倍体、拷贝数变异和单基因变异进行同步筛查的策略。目前,游离DNA检测已经成为产前筛查的主流检测技术,但在检测疾病范围、目标疾病的检测性能方面还有较大的提升空间。在临床实践中,正确评估新遗传性检测技术的准确性和筛查效率,完善临床路径,提高从业人员的咨询能力,全面评估新技术临床应用的可行性和服务可及性,进一步完善产前筛查产前诊断的技术和管理体系,是目前亟需解决的实际问题。

本文引用格式

戚庆炜 . 以科学态度推动遗传检测新技术在胎儿疾病筛查中的应用[J]. 临床儿科杂志, 2024 , 42(5) : 384 -389 . DOI: 10.12372/jcp.2024.24e0303

Abstract

With the development of second-generation sequencing technology, the target diseases of prenatal screening for fetal genetic diseases have gradually progressed from common chromosomal aneuploidy to chromosome microdeletion/microduplication syndromes and single-gene disorders, and the screening strategy has also gradually progressed from chromosomal abnormalities to comprehensive screening strategies for fetal chromosomal aneuploidy, copy number variations and monogenic variations. In the current clinical practice, cell-free DNA testing has become the mainstream technology for prenatal screening, but there is still an urgent need to improve the scope of the target diseases and the detection performance. It is urgent to correctly evaluate the accuracy and screening efficiency of the new genetic testing technology and define its clinical pathway. It is also important to improve the ability of the pre-testing and post-testing counselling of the practitioners, and to evaluate the feasibility of clinical application of new technologies and the accessibility of comprehensive services, and further improving the management system of prenatal screening and prenatal diagnosis are practical issues that need to be addressed urgently.

参考文献

[1] 中国出生缺陷防治报告[R]. 中华人民共和国卫生部, 2012.
[2] Evans MI, Wapner RJ, Berkowitz RL. Noninvasive prenatal screening or advanced diagnostic testing: caveat emptor[J]. Am J Obstet Gynecol, 2016, 215(3): 298-305.
[3] Centers for Disease Control and Prevention (CDC). Update on overall prevalence of major birth defects--Atlanta, Georgia, 1978-2005[J]. MMWR Morb Mortal Wkly Rep, 2008, 57(1): 1-5.
[4] Wald NJ, Rodeck C, Hackshaw AK, et al. First and second trimester antenatal screening for Down's syndrome: the results of the serum, urine and ultrasound screening study (SURUSS)[J]. Health Technol Assess, 2003, 7(11): 1-77.
[5] Lambert-Messerlian G, Dugoff L, Vidaver J, et al. First- and second-trimester Down syndrome screening markers in pregnancies achieved through assisted reproductive technologies (ART): a FASTER trial study[J]. Prenat Diagn, 2006, 26(8): 672-678.
[6] Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum[J]. Lancet, 1997, 350(9076): 485-487.
[7] Chiu RW, Chan K C, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma[J]. Proc Natl Acad Sci U S A, 2008, 105(51): 20458-20463.
[8] Song Y, Liu C, Qi H, et al. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population[J]. Prenat Diagn, 2013, 33(7): 700-706.
[9] Norton ME, Brar H, Weiss J, et al. Non-invasive chromosomal evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18[J]. Am J Obstet Gynecol, 2012, 207(2): 137.
[10] Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics[J]. Genet Med, 2016, 18(10): 1056-1065.
[11] Rose NC, Barrie ES, Malinowski J, et al. Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies[J]. Genet Med, 2022, 24(7): 1379-1391.
[12] Dungan JS, Klugman S, Darilek S, et al. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)[J]. Genet Med, 2023, 25(2): 100336.
[13] Liang D, Cram DS, Tan H, et al. Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes[J]. Genet Med, 2019, 21: 1998-2006.
[14] Shi P, Wang Y, Liang H, et al. The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes[J]. Prenat Diagn, 2021, 41: 1332-1342.
[15] Wang C, Tang J, Tong K, et al. Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations[J]. BMC Med Genomics, 2021, 14(1): 292.
[16] Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis[J]. N Engl J Med, 2012, 367(23): 2175-2184.
[17] Srebniak MI, Joosten M, Knapen MFCM, et al. Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta-analysis[J]. Ultrasound Obstet Gynecol, 2018, 51(4): 445-452.
[18] Wapner RJ, Babiarz JE, Levy B, et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes[J]. Am J Obstet Gynecol, 2015, 212(3):332.
[19] Lefkowitz RB, Tynan JA, Liu T, et al. Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants[J]. Am J Obstet Gynecol, 2016, 215(2): 227.
[20] Dar P, Jacobsson B, Clifton R, et al. Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome[J]. Am J Obstet Gynecol, 2022, 227(1):79.
[21] Guseh S, Wilkins-Haug L, Kaimal A, et al. Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing[J]. Genet Med, 2021, 23(7): 1341-1348.
[22] Yu D, Zhang K, Han M, et al. Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing[J]. Mol Genet Genomic Med, 2019, 7(6): e674.
[23] Chitty LS. Advances in the prenatal diagnosis of monogenic disorders[J]. Prenat Diagn, 2018, 38: 3-5.
[24] Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)[J]. Genet Med, 2021, 23(10): 1793-1806.
[25] Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing[J]. JAMA, 2014, 312(18): 1870-1879.
[26] Toriello HV, Meck JM. Statement on guidance for genetic counseling in advanced paternal age[J]. Genet Med, 2008, 10(6): 457-460.
[27] Taylor JL, Debost JC, Morton SU, et al. Paternal-age-related de novo mutations and risk for five disorders[J]. Nat Commun, 2019, 10(1): 3043.
[28] Chen X, Jiang Y, Chen R, et al. Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies[J]. J Transl Med, 2022, 20(1):10.
[29] Chitty LS, Mason S, Barrett AN. Non-Invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach[J]. Prenat Diagn, 2015, 35: 656-662.
[30] Zhang J, Li J, Saucier JB. Non-Invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA[J]. Nat Med, 2019, 25(3): 439-441.
[31] Mohan P, Lemoine J, Trotter C, et al. Clinical experience with non-invasive prenatal screening for single-gene disorders[J]. Ultrasound Obstet Gynecol, 2022, 59: 33-39.
[32] Xu C, Li J, Chen S, et al. Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening[J]. Cell Disco, 2022, 8(1): 109.
[33] Zhang J, Wu Y, Chen S, et al. Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies[J]. Nat Med, 2024, 30(2): 470-479.
文章导航

/