Treffer: Prenatal Diagnosis of Foetal Structural Anomalies Using Medium-Coverage Whole Genome Sequencing (CMA-Seq): A Large-Scale Comparative Study With CMA in 3973 Pregnancies.

Prenatal Diagnosis of Foetal Structural Anomalies Using Medium-Coverage Whole Genome Sequencing (CMA-Seq): A Large-Scale Comparative Study With CMA in 3973 Pregnancies.

Jiang Y; Chongqing Health Centre for Women and Children/Women and Children's Hospital of Chongqing Medical University, Chongqing, China., Liu F; Chongqing Health Centre for Women and Children/Women and Children's Hospital of Chongqing Medical University, Chongqing, China., Zhong L; Chongqing Health Centre for Women and Children/Women and Children's Hospital of Chongqing Medical University, Chongqing, China., Zhong R; Chongqing Health Centre for Women and Children/Women and Children's Hospital of Chongqing Medical University, Chongqing, China., Liang M; Chongqing Health Centre for Women and Children/Women and Children's Hospital of Chongqing Medical University, Chongqing, China., Ma L; Chongqing Health Centre for Women and Children/Women and Children's Hospital of Chongqing Medical University, Chongqing, China., Zhang VW; AmCare Genomics Lab, Guangzhou, Guangdong, China., Chen B; AmCare Genomics Lab, Guangzhou, Guangdong, China., Zhang Q; AmCare Genomics Lab, Guangzhou, Guangdong, China., Xu L; AmCare Genomics Lab, Guangzhou, Guangdong, China., Zhou W; Chongqing Health Centre for Women and Children/Women and Children's Hospital of Chongqing Medical University, Chongqing, China.

BJOG : an international journal of obstetrics and gynaecology [BJOG] 2025 Sep; Vol. 132 (10), pp. 1489-1501. Date of Electronic Publication: 2025 May 23.

Journal Article; Comparative Study; Meta-Analysis

English

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 100935741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-0528 (Electronic) Linking ISSN: 14700328 NLM ISO Abbreviation: BJOG Subsets: MEDLINE

Publication: : Oxford : Wiley-Blackwell
Original Publication: Oxford [England] : Blackwell Science, [2000]-

Whole Genome Sequencing*/methods , Prenatal Diagnosis*/methods , Chromosome Aberrations* , Chromosome Disorders*/diagnosis , Chromosome Disorders*/genetics , Microarray Analysis*/methods, Humans ; Female ; Pregnancy ; Prospective Studies ; Adult ; China ; Amniocentesis ; DNA Copy Number Variations ; Feasibility Studies

L. Edwards and L. Hui, “First and Second Trimester Screening for Fetal Structural Anomalies,” Seminars in Fetal & Neonatal Medicine 23, no. 2 (2018): 102–111.
World Health Organization, “Congenital Anomalies,” WHO (2020).
L. Dai, J. Zhu, J. Liang, Y. P. Wang, H. Wang, and M. Mao, “Birth Defects Surveillance in China,” World Journal of Pediatrics 7, no. 4 (2011): 302–310.
J. Atienza‐Carrasco, M. Linares‐Abad, M. Padilla‐Ruiz, and I. M. Morales‐Gil, “Experiences and Outcomes Following Diagnosis of Congenital Foetal Anomaly and Medical Termination of Pregnancy: A Phenomenological Study,” Journal of Clinical Nursing 29, no. 7–8 (2020): 1220–1237.
D. Sharma, S. Shastri, and P. Sharma, “Intrauterine Growth Restriction: Antenatal and Postnatal Aspects,” Clinical Medicine Insights. Pediatrics 10 (2016): 67–83.
C. V. Jain, L. Kadam, M. Van Dijk, et al., “Fetal Genome Profiling at 5 Weeks of Gestation After Noninvasive Isolation of Trophoblast Cells From the Endocervical Canal,” Science Translational Medicine 8, no. 363 (2016): 363re4.
J. M. Petersen, M. M. Yazdy, K. D. Getz, M. T. Anderka, and M. M. Werler, “Short Interpregnancy Intervals and Risks for Birth Defects: Support for the Nutritional Depletion Hypothesis,” American Journal of Clinical Nutrition 113, no. 6 (2021): 1688–1699.
J. Qiu, Y. Ru, Y. Gao, and J. Shen, “Experience in Prenatal Ultrasound Diagnosis of Fetal Microtia and Associated Abnormalities,” Frontiers in Medicine 10 (2023): 1119191.
U. M. Reddy, A. Z. Abuhamad, D. Levine, et al., “Fetal Imaging: Executive Summary of a Joint Eunice Kennedy Shriver National Institute of Child Health and Human Development, Society for Maternal‐Fetal Medicine, American Institute of Ultrasound in Medicine, American College of Obstetricians and Gynecologists, American College of Radiology, Society for Pediatric Radiology, and Society of Radiologists in Ultrasound Fetal Imaging Workshop,” American Journal of Obstetrics and Gynecology 210, no. 5 (2014): 387–397.
S. Bellavance, M. P. Cardinal, L. Gobeil, M.‐E. Roy‐Lacroix, and F. Dallaire, “The Mathematical Limitations of Fetal Echocardiography as a Screening Tool in the Setting of a Normal Second‐Trimester Ultrasound,” CJC Open 3, no. 8 (2021): 987–993.
American College of Obstetricians and Gynecologists Committee on Genetics, “Committee Opinion No. 581: The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis,” Obstetrics and Gynecology 122, no. 6 (2013): 1374–1377.
I. Mademont‐Soler, C. Morales, A. Soler, et al., “Prenatal Diagnosis of Chromosomal Abnormalities in Fetuses With Abnormal Cardiac Ultrasound Findings: Evaluation of Chromosomal Microarray‐Based Analysis,” Ultrasound in Obstetrics & Gynecology 41, no. 4 (2013): 375–382.
E. Lostchuck, A. Poulton, J. Halliday, and L. Hui, “Population‐Based Trends in Invasive Prenatal Diagnosis for Ultrasound‐Based Indications: Two Decades of Change From 1994 to 2016,” Ultrasound in Obstetrics & Gynecology 53, no. 4 (2019): 503–511.
C. Alkan, B. P. Coe, and E. E. Eichler, “Genome Structural Variation Discovery and Genotyping,” Nature Reviews Genetics 12, no. 5 (2011): 363–376.
L. Romdhane, N. Mezzi, H. Dallali, et al., “A Map of Copy Number Variations in the Tunisian Population: A Valuable Tool for Medical Genomics in North Africa,” NPJ Genomic Medicine 6, no. 1 (2021): 3.
F. C. Ceballos, P. K. Joshi, D. W. Clark, M. Ramsay, and J. F. Wilson, “Runs of Homozygosity: Windows Into Population History and Trait Architecture,” Nature Reviews Genetics 19, no. 4 (2018): 220–234.
M. D. Kilby, “The Role of Next‐Generation Sequencing in the Investigation of Ultrasound‐Identified Fetal Structural Anomalies,” BJOG: An International Journal of Obstetrics and Gynaecology 128, no. 2 (2021): 420–429.
X. Li, S. Chen, W. Xie, et al., “PSCC: Sensitive and Reliable Population‐Scale Copy Number Variation Detection Method Based on Low Coverage Sequencing,” PLoS One 9, no. 1 (2014): e85096.
L. Yang, Y. Xu, J. Xia, et al., “Simultaneous Detection of Genomic Imbalance in Patients Receiving Preimplantation Genetic Testing for Monogenic Diseases (PGT‐M),” Frontiers in Genetics 13 (2022): 976131.
G. Matthijs, E. Souche, M. Alders, et al., “Guidelines for Diagnostic Next‐Generation Sequencing,” European Journal of Human Genetics 24, no. 10 (2016): 1515.
Y. Zheng, B. Zhu, J. Tan, et al., “Experience of Low‐Pass Whole‐Genome Sequencing‐Based Copy Number Variant Analysis: A Survey of Chinese Tertiary Hospitals,” Diagnostics (Basel, Switzerland) 12, no. 5 (2022): 1098.
H. J. Abel, D. E. Larson, A. A. Regier, et al., “Mapping and Characterization of Structural Variation in 17,795 Human Genomes,” Nature 583, no. 7814 (2020): 83–89.
Y. Lü, Y. Jiang, X. Zhou, et al., “Detection of Mosaic Absence of Heterozygosity (AOH) Using Low‐Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report,” Diagnostics (Basel) 13, no. 18 (2023): 2895.
Y. Lu, Y. Jiang, X. Zhou, et al., “Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA‐Seq) in Prenatal Diagnosis,” Diagnostics (Basel) 13 (2023): 560.
Q. G. Xiang Wenxiu, “Application of In Situ Culture of Amniotic Fluid Combined With Chromosome Microarray Analysis in Prenatal Diagnosis,” Journal of Clinical Laboratory Medicine 42, no. 2 (2024): 85–89.
L. Chenzhao, W. Min, H. Jiansu, et al., “Application of Chromosome Microarray Analysis Technique in Prenatal Diagnosis of Fetal With Strong Echo of Heart,” Chinese Medical Sciences 14, no. 4 (2024): 93–97.
Z. Ying, Z. Lichao, S. Danhua, et al., “Application of Chromosome Microarray Analysis in Genetic Examination of Fetal Nasal Bone Abnormalities,” Modern Practical Medicine 36, no. 1 (2024): 41–44.
X. Chenyang, I. E. Package, Z. Lili, et al., “Application of Chromosome Microarray Analysis in the Diagnosis of Fetal Malformation of Central Nervous System,” Journal of Wenzhou Medical University 54, no. 2 (2024): 112–119.
L. Yongli and L. Huafeng, “Application of Chromosome Microarray Analysis and Whole Exome Sequencing in Prenatal Diagnosis of Rare Diseases,” Journal of Shandong Medical College 46, no. 1 (2024): 7–10.
L. Jianzhen, L. Keng, X. Biqiu, et al., “Application of Karyotype Analysis Combined With Chromosome Microarray Analysis in Fetal Ultrasound Abnormalities,” Chinese Journal of Prenatal Diagnosis (Electronic Edition) 15, no. 2 (2023): 23–28.
L. Jing, Z. Xia, and M. Navy, “A Preliminary Study of the Correlation Between Fetal Ultrasound Cardiac Malformations and Results of Chromosomal Microarray Analysis,” Chinese Journal of Prenatal Diagnosis (Electronic Edition) 15, no. 1 (2023): 23–28.
J. Chen, S. Xueping, D. Kefeng, et al., “Genome‐Wide Copy Number Variation Analysis of 344 Fetuses With Ultrasound Abnormalities,” Maternal and Child Health Care in China 38, no. 18 (2023): 3584–3588.
L. Jiansheng, “Application of Chromosome Microarray Technology in Fetal Genetic Diagnosis,” Journal of Rare Diseases 30, no. 6 (2023): 100–101.
J. Z. J. Duan, “The Clinical Value of Chromosome Microarray Analysis in Detecting Chromosome Microdeletion/Microduplication in Pregnant Women With Different Prenatal Diagnostic Indicators,” Medical Theory and Practice 36, no. 18 (2023): 3187–3190.
H. Yingcong, C. Qiuyan, and G. Hongmei, “Analysis of the Application Value of Chromosome Microarray Analysis Technique in Prenatal Diagnosis of Fetal With Lateral Ventricle Enlargement,” Practical Electronic Journal of Gynecology Endocrinology 10, no. 12 (2023): 102–104+108.
W. Fei, B. Youwei, Z. Danyan, et al., “Application of Chromosomal Microarray Analysis in Prenatal Diagnosis of Fetal Chromosomal Abnormalities in Elderly Pregnant Women,” Chinese Journal of Eugenics and Genetics 31, no. 2 (2023): 355–358.
X. Hu, Y. Hu, H. Wang, C. Yu, J. Zheng, and H. Zhang, “Comparison of Chromosomal Microarray Analysis and Noninvasive Prenatal Testing in Pregnant Women With Fetal Ultrasonic Soft Markers,” Risk Management and Healthcare Policy 17 (2024): 29–40.
Y. Wang, L. Liu, F. Fu, et al., “Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses With Digestive System Malformations,” Genes (Basel) 14, no. 10 (2023): 1872.
R. Zemet, E. Krispin, R. M. Johnson, et al., “Implication of Chromosomal Microarray Analysis Prior to In‐Utero Repair of Fetal Open Neural Tube Defect,” Ultrasound in Obstetrics & Gynecology 61, no. 6 (2023): 719–727.
Z. Yanping, Z. Shilin, X. Liping, et al., “Analysis of Prenatal Diagnosis Results of 338 NIPT Positive Cases,” Journal of Rare Diseases 29, no. 11 (2022): 49–51.
H. Y. Tu, D. Q. Huang, J. X. Tang, et al., “Application of Karyotype Analysis and Chromosomal Microarray Technique in Prenatal Diagnosis of Fetus With Abnormal Ultrasound Soft Indicators,” Anhui Journal of Preventive Medicine 28, no. 5 (2022): 376–379.
H. Yongmei, “Research on the Application of Chromosomal Microarray Technology in the Prenatal Diagnosis of Fetuses With Abnormal Ultrasound Soft Indicators,” World Compound Medicine 8, no. 11 (2022): 70–74.
X. Linling, X. Jun, Z. Xiaohong, et al., “The Value of Chromosomal Microarray Technique in the Genetic Evaluation of Fetal Ultrasound With Structural Abnormalities,” Radiation Health in China 31, no. 5 (2022): 611–614+25.
Z. Xiujuan, F. Yuan, G. Lize, et al., “Study on the Correlation Between Fetal Ultrasound Soft Index and Chromosome Copy Number Variation,” Journal of Xuzhou Medical University 42, no. 6 (2022): 419–423.
L. Min, Z. Qing'e, D. Jingjing, et al., “The Value of Chromosomal Microarray Analysis in Prenatal Diagnosis,” Research on Maternal and Child Health in China 33, no. 5 (2022): 96–101.
H. Baoliang, L. Xiaojun, X. Xiaohong, et al., “Value of Chromosome Microarray Chip Combined With Karyotype Analysis in Prenatal Diagnosis,” Chinese Journal of Family Planning 30, no. 6 (2022): 1397–1403.
Y. Q. Lei, J. S. Luo, L. P. Ouyang, et al., “Application of Single Nucleotide Polymorphism Microarray Technique in Prenatal Diagnosis of Fetal Neck Lymphatic Hygroma,” Chinese Family Planning and Obstetrics and Gynecology 14, no. 8 (2022): 65–69.
Z. P. Gu, T. H. Xu, C. Y. Jin, et al., “The Value of Chromosomal Microarray Analysis in Prenatal Diagnosis and the Detection Rate of Chromosomal Abnormalities in Elderly Pregnant Women,” Chinese Science and Technology Journals Database (Abstract Edition) Medicine and Health 9 (2023).1–3.
X. Jing, H. Liu, Q. Zhu, et al., “Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China,” Frontiers in Genetics 12 (2021): 811414.
J. Wang, D. Wang, Y. Yin, et al., “Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies,” Genetical Research 2022 (2022): 6791439.
W. Guixi, K. Sun, K. Linghui, et al., “The Value of SNParray Analysis Technique in the Diagnosis of Fetal Congenital Heart Disease,” Journal of Clinical Pediatrics 39, no. 10 (2021): 726–728.
Z. Yanping, Z. Shilin, D. Jing, et al., “Clinical Analysis of Prenatal Diagnosis of Nasal Bone Dysplasia in 92 Fetuses,” Family Planning and Obstetrics and Gynecology in China 13, no. 12 (2021): 49–52.
H. Tingting, Z. Jian, C. Xiaolu, et al., “Analysis of Prenatal Diagnosis in the Second Trimester of 88 Balanced Translocation Carriers,” Maternal and Child Health Care in China 36, no. 21 (2021): 5061–5063.
Z. Na, M. Y, Y. W, et al., “Clinical Analysis of Prenatal Diagnosis of Nasal Bone Dysplasia in 92 Fetuses,” Journal of Southwest Medical University 44, no. 2 (2021): 144–149.
J. L, “The Application Value of Chromosome Microarray Combined With Karyotype Analysis Technique in Fetus With Abnormal Ultrasound Soft Index,” Journal of Taishan Medical College 42, no. 1 (2021): 57–60.
H. Huang, M. Cai, L. Liu, L. Xu, and N. Lin, “Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single‐Center Experience,” International Journal of General Medicine 14 (2021): 1991–1997.
X. Wu, Y. Li, N. Lin, et al., “Chromosomal Microarray Analysis for Pregnancies With Abnormal Maternal Serum Screening Who Undergo Invasive Prenatal Testing,” Journal of Cellular and Molecular Medicine 25, no. 13 (2021): 6271–6279.
J. Liu, Z. He, S. Lin, et al., “Absence of Heterozygosity Detected by Single‐Nucleotide Polymorphism Array in Prenatal Diagnosis,” Ultrasound in Obstetrics & Gynecology 57, no. 2 (2021): 314–323.
P. Lu, L. Yanqiu, W. Xinrong, et al., “Karyotype Analysis of Fetuses at High Risk of NIPT and Analysis of Chromosomal Microarray Results,” Jiangxi Medicine 55, no. 5 (2020): 600–603.
T. T. Man, D. G. Wang, D. M. Ou, et al., “Analysis of Prenatal Diagnosis Results of 2637 Cases With High Risk of Prenatal Serological Screening,” Chinese Practical Medicine 15, no. 23 (2020): 74–76.
L. Yanqing, L. Xiaying, X. Junjie, et al., “Analysis of Chromosomal Karyotype and Application of Single Nucleotide Polymorphism Chip Detection in Fetal Ultrasound Abnormalities,” International Journal of Obstetrics and Gynaecology 47, no. 3 (2020): 286–290.
L. Luobing, T. Mansheng, L. Xilan, et al., “The Application Value of Chromosomal Microarray Technology in the Prenatal Diagnosis of Fetal Ultrasound Abnormalities,” Contemporary Chinese Medicine 27, no. 18 (2020): 130–132+41.
J. Huang, L. Tang, F. B. Xu, et al., “Application of Chromosome Microarray Technique in Prenatal Diagnosis of Twin Pregnancy,” Practical Electronic Journal of Gynecology Endocrinology 7, no. 35 (2020): 133–134.
Z. Fushou, W. Yan, S. Xumei, et al., “Application of SNP‐Array Technique Combined With Chromosome Karyotype Analysis in Prenatal Diagnosis of Fetal Ultrasound Abnormalities,” Ningxia Medical Journal 42, no. 3 (2020): 200–203.
Z. Xuepiao, “Application of Chromosomal Karyotype Analysis Combined With Chromosomal Chip Technology in Prenatal Diagnosis of Fetuses With Structural Abnormalities Indicated by Ultrasound,” Minimally Invasive Medicine 15, no. 6 (2020): 739–741+790.
S. Yang, T. T. I. Coming, B. Zhouxian, et al., “Application Value of Chromosome Microarray Analysis in Noninvasive Prenatal Screening for High Risk Aneuploidy,” Journal of Practical Obstetrics and Gynecology 36, no. 3 (2020): 227–230.
G. X. Guo Wanru and Y. Ling, “Application and Clinical Significance of Chromosome Microarray Analysis in Diagnosis of Multiple Congenital Malformations,” Chinese Journal of Eugenics and Genetics 28, no. 7 (2020): 873–876+905.
T. Linglong, L. Yanqiu, H. Tingting, et al., “Application of Chromosome Microarray Analysis in Fetus With Abnormal Nervous System Development,” Jiangxi Medicine 55, no. 2 (2020): 109–113.
J. Xiang, Y. Ding, X. Song, et al., “Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies,” Frontiers in Genetics 11 (2020): 571219.
L. Li, Z. He, X. Huang, et al., “Chromosomal Abnormalities Detected by Karyotyping and Microarray Analysis in Twins With Structural Anomalies,” Ultrasound in Obstetrics & Gynecology 55, no. 4 (2020): 502–509.
M. Xia, X. Yang, J. Fu, Z. Teng, Y. Lv, and L. Yu, “Application of Chromosome Microarray Analysis in Prenatal Diagnosis,” BMC Pregnancy and Childbirth 20, no. 1 (2020): 696.
X. Wu, G. An, X. Xie, et al., “Chromosomal Microarray Analysis for Pregnancies With or Without Ultrasound Abnormalities in Women of Advanced Maternal Age,” Journal of Clinical Laboratory Analysis 34, no. 4 (2020): e23117.
J. Xu, Y. Xue, J. Wang, et al., “The Necessity of Prenatal Diagnosis by CMA for the Women With NIPS‐Positive Results,” International Journal of Genomics 2020 (2020): 2145701.
N. Shuting, C. Shaohua, H. Shaojun, et al., “Application of CMA in Prenatal Diagnosis of Fetal Nervous System Abnormalities,” Minimally Invasive Medicine 14, no. 3 (2019): 287–289.
Z. Shuhong, J. Qianying, W. Yuanbai, et al., “Application of SNP Array Technology and Karyotyping in Prenatal Diagnosis of High‐Risk Pregnant Women,” International Journal of Reproductive Health/Family Planning 38, no. 6 (2019): 445–449.
Z. Guo, C. Q. Zhang, Y. Yang, et al., “Clinical Application of Chromosomal Microarray Analysis in the Right Fetal Aortic Arch,” Journal of Practical Medicine 35, no. 8 (2019): 1278–1281.
L. Xingping, X. Jiansheng, X. Yong, et al., “Late‐Onset Growth Restriction Fetal Chromosomal Microarray Analysis,” Advances in Modern Obstetrics and Gynecology 28, no. 8 (2019): 576–579+583.
X. Shuya, C. Jingsi, Z. Huimin, et al., “Correlation Analysis of Neck Translucency Thickening With Chromosomal Abnormalities,” Journal of Practical Obstetrics and Gynecology 35, no. 5 (2019): 382–385.
Y. Zhu, Q. Shan, J. Zheng, et al., “Comparison of Efficiencies of Non‐Invasive Prenatal Testing, Karyotyping, and Chromosomal Micro‐Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters,” Frontiers in Genetics 10, no. 69 (2019): 69.
L. Shining, Z. Yanfang, X. Fenghua, et al., “Clinical Value of CMA and Karyotyping in the Diagnosis of Fetal Chromosomal Abnormalities,” Journal of Modern Laboratory Medicine 33, no. 3 (2018): 126–129.
S. Xiaoyu, W. Ju, T. Zhongfeng, et al., “Discussion on the Application of Chromosomal Microarray Analysis in the Diagnosis of Fetal Cardiac Malformations,” Chinese Journal of Eugenics and Genetics 26, no. 12 (2018): 86–88.
L. N. Song, H. Jin, Y. Zhao, et al., “Analysis of the Application of Chromosomal Microarray Analysis in the Prenatal Diagnosis of Choroid Plexus Cyst Fetuses,” Shandong Medicine 58, no. 36 (2018): 60–62.
J. C. Wang, J. Radcliff, S. J. Coe, et al., “Effects of Platforms, Size Filter Cutoffs, and Targeted Regions of Cytogenomic Microarray on Detection of Copy Number Variants and Uniparental Disomy in Prenatal Diagnosis: Results From 5026 Pregnancies,” Prenatal Diagnosis 39, no. 3 (2019): 137–156.
J. G. Parchem, T. N. Sparks, K. Gosnell, and M. E. Norton, “Utility of Chromosomal Microarray in Anomalous Fetuses,” Prenatal Diagnosis 38, no. 2 (2018): 140–147.
Z. Jin, W. Li, S. Dongmei, et al., “Application Value of Single Nucleotide Polymorphism Microarray Analysis in Prenatal Genetic Diagnosis,” Chinese Journal of Eugenics and Genetics 25, no. 8 (2017): 10–12.
J. Yulin, Q. Qingwei, M. Hua, et al., “Analysis of the Results of Unclear Copy Number Variation Found by CMA Technology in Prenatal Diagnosis of 308 High‐Risk Pregnancies,” Journal of Reproductive Medicine 26, no. 9 (2017): 863–868.
X. Yuhuan, Z. Huimin, L. Ho‐Hyun, et al., “CMA Technology Is Used in the Prenatal Diagnosis of Fetal Ultrasound, Cardiovascular Abnormalities and DiGeorge Syndrome,” Chinese Journal of Prenatal Diagnosis (Electronic Edition) 9, no. 3 (2017): 11–19.
Y. Wu, Y. Wang, J. Tao, et al., “The Clinical Use of Chromosomal Microarray Analysis in Detection of Fetal Chromosomal Rearrangements: A Study From China Mainland,” European Journal of Obstetrics, Gynecology, and Reproductive Biology 212 (2017): 44–50.
L. Weiqiang, W. Jun, Y. Guo, et al., “Application of Genome‐Wide SNP‐Array in Prenatal Genetic Diagnosis of Fetuses With Ultrasound Abnormalities,” Journal of Tropical Medicine 16, no. 2 (2016): 167.
H. Zhu, S. Lin, L. Huang, et al., “Application of Chromosomal Microarray Analysis in Prenatal Diagnosis of Fetal Growth Restriction,” Prenatal Diagnosis 36, no. 7 (2016): 686–692.
Q. Xi, X. Zhu, Y. Wang, et al., “Copy Number Variations in Multicystic Dysplastic Kidney: Update for Prenatal Diagnosis and Genetic Counseling,” Prenatal Diagnosis 36, no. 5 (2016): 463–468.
W. Yan, Z. Jingjing, L. Cuiyun, et al., “SNP Array Is Used for Prenatal Diagnosis of Fetuses With Congenital Heart Disease,” Advances in Modern Obstetrics and Gynecology 24, no. 9 (2015): 677–680.
M. Schmid, S. Stary, S. Springer, et al., “Prenatal Microarray Analysis as Second‐Tier Diagnostic Test: Single‐Center Prospective Study,” Ultrasound in Obstetrics & Gynecology 41, no. 3 (2013): 267–273.
E. J. Smith, M. Hill, M. Peter, et al., “Implementation of a National Prenatal Exome Sequencing Service in England: Cost‐Effectiveness Analysis,” BJOG: An International Journal of Obstetrics & Gynaecology 132, no. 4 (2025): 483–491.
B. Moradi, A. Ariaei, M. Heidari‐Foroozan, et al., “Diagnostic Yield of Prenatal Exome Sequencing in the Genetic Screening of Fetuses With Brain Anomalies Detected by MRI and Ultrasonography: A Systematic Review and Meta‐Analysis,” BJOG: An International Journal of Obstetrics & Gynaecology 131, no. 11 (2024): 1435–1443.
Z. Dong, J. Yan, F. Xu, et al., “Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage,” American Journal of Human Genetics 105, no. 6 (2019): 1102–1111.
A. Chaubey, S. Shenoy, A. Mathur, et al., “Low‐Pass Genome Sequencing: Validation and Diagnostic Utility From 409 Clinical Cases of Low‐Pass Genome Sequencing for the Detection of Copy Number Variants to Replace Constitutional Microarray,” Journal of Molecular Diagnostics 22, no. 6 (2020): 823–840.
S. Chen, L. Zhang, J. Gao, et al., “Expanding the Scope of Non‐Invasive Prenatal Testing to Detect Fetal Chromosomal Copy Number Variations,” Frontiers in Molecular Biosciences 8 (2021): 649169.
H. Wang, M. H. K. Chau, Y. Cao, K. Y. Kwok, and K. W. Choy, “Chromosome Copy Number Variants in Fetuses With Syndromic Malformations,” Birth Defects Research 109, no. 10 (2017): 725–733.
R. Yao, C. Zhang, T. Yu, et al., “Evaluation of Three Read‐Depth Based CNV Detection Tools Using Whole‐Exome Sequencing Data,” Molecular Cytogenetics 10 (2017): 30.
M. H. K. Chau, S. Anderson, and R. Song, “P593: Detection of Single‐Gene Copy‐Number Variations Through High‐Resolution Exon‐Targeted Chromosomal Microarray Analysis,” Genetics in Medicine Open 2 (2024): 101499.
T. F. Chaves, L. F. Oliveira, M. Ocampos, et al., “Long Contiguous Stretches of Homozygosity Detected by Chromosomal Microarrays (CMA) in Patients With Neurodevelopmental Disorders in the South of Brazil,” BMC Medical Genomics 12, no. 1 (2019): 50.
L. H. Li, S. F. Ho, C. H. Chen, et al., “Long Contiguous Stretches of Homozygosity in the Human Genome,” Human Mutation 27, no. 11 (2006): 1115–1121.
M. Kirin, R. Mcquillan, C. S. Franklin, et al., “Genomic Runs of Homozygosity Record Population History and Consanguinity,” PLoS One 5, no. 11 (2010): e13996.
F. R. Grati, “Chromosomal Mosaicism in Human Feto‐Placental Development: Implications for Prenatal Diagnosis,” Journal of Clinical Medicine 3, no. 3 (2014): 809–837.
N. Ma, H. Xi, J. Chen, et al., “Integrated CNV‐Seq, Karyotyping and SNP‐Array Analyses for Effective Prenatal Diagnosis of Chromosomal Mosaicism,” BMC Medical Genomics 14, no. 1 (2021): 56.
P. C. Mazzonetto, D. Villela, S. S. Da Costa, et al., “Low‐Pass Whole Genome Sequencing Is a Reliable and Cost‐Effective Approach for Copy Number Variant Analysis in the Clinical Setting,” Annals of Human Genetics 88, no. 2 (2024): 113–125.
N. M. Sachdev, D. H. Mcculloh, Y. Kramer, et al., “The Reproducibility of Trophectoderm Biopsies in Euploid, Aneuploid, and Mosaic Embryos Using Independently Verified Next‐Generation Sequencing (NGS): A Pilot Study,” Journal of Assisted Reproduction and Genetics 37, no. 3 (2020): 559–571.
D. Goodrich, X. Tao, C. Bohrer, et al., “A Randomized and Blinded Comparison of qPCR and NGS‐Based Detection of Aneuploidy in a Cell Line Mixture Model of Blastocyst Biopsy Mosaicism,” Journal of Assisted Reproduction and Genetics 33, no. 11 (2016): 1473–1480.
B. Horsthemke, H. Nazlican, J. Husing, et al., “Somatic Mosaicism for Maternal Uniparental Disomy 15 in a Girl With Prader‐Willi Syndrome: Confirmation by Cell Cloning and Identification of Candidate Downstream Genes,” Human Molecular Genetics 12, no. 20 (2003): 2723–2732.
F. Los, D. Van Opstal, and C. Van Den Berg, “The Development of Cytogenetically Normal, Abnormal and Mosaic Embryos: A Theoretical Model,” Human Reproduction Update 10, no. 1 (2004): 79–94.
J. L. Blouin, A. Aurias, N. Creau‐Goldberg, et al., “Cytogenetic and Molecular Analysis of a De Novo Tandem Duplication of Chromosome 21,” Human Genetics 88, no. 2 (1991): 167–174.
C. Robberecht, T. Voet, G. E. Utine, et al., “Meiotic Errors Followed by Two Parallel Postzygotic Trisomy Rescue Events Are a Frequent Cause of Constitutional Segmental Mosaicism,” Molecular Cytogenetics 5 (2012): 19.
A. Forabosco, A. Percesepe, and S. Santucci, “Incidence of Non‐Age‐Dependent Chromosomal Abnormalities: A Population‐Based Study on 88965 Amniocenteses,” European Journal of Human Genetics 17, no. 7 (2009): 897–903.

Keywords: CMA‐seq; chromosomal abnormalities; foetal structural anomalies; prenatal diagnosis; whole genome sequencing

Date Created: 20250523 Date Completed: 20250801 Latest Revision: 20250804

20250805

10.1111/1471-0528.18222

40406936

MEDLINE