Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.
chromosomal abnormality
gender
karyotype
postnatal
Journal
Journal of clinical laboratory analysis
ISSN: 1098-2825
Titre abrégé: J Clin Lab Anal
Pays: United States
ID NLM: 8801384
Informations de publication
Date de publication:
19 Dec 2023
19 Dec 2023
Historique:
revised:
15
11
2023
received:
21
09
2023
accepted:
07
12
2023
medline:
20
12
2023
pubmed:
20
12
2023
entrez:
20
12
2023
Statut:
aheadofprint
Résumé
Chromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal abnormalities in different clinical populations. The study examined various indications for karyotype evaluation, with recurrent pregnancy loss being the most common indication, followed by intellectual disability, dysmorphic features, congenital anomalies, and developmental delay. The overall chromosomal abnormality rate was found to be 5.4%, with numerical abnormalities accounting for the majority of cases (61.7%). Trisomies, particularly trisomy 21, were the most frequent numerical abnormalities. In terms of structural abnormalities, inversions and translocations were the most commonly identified. The rates of chromosomal anomalies varied in specific indications such as amenorrhea, disorders of sex development, and Turner syndrome. The study also highlighted significant differences between males and females in the presence of chromosomal abnormalities across certain indications. Males exhibited a higher incidence of chromosomal abnormalities in cases of Down syndrome and infertility, whereas females showed higher abnormalities in terms of recurrent pregnancy loss. While this study provides valuable insights into the frequency and distribution of chromosomal abnormalities, it has limitations, including its retrospective design and reliance on data from a single medical genetics department. Nevertheless, the findings emphasize the importance of karyotype analysis in diagnosing chromosomal disorders and providing appropriate management, while also pointing to potential gender-related variations in chromosomal abnormalities that warrant further investigation.
Sections du résumé
BACKGROUND AND AIM
OBJECTIVE
Chromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal abnormalities in different clinical populations.
METHOD
METHODS
The study examined various indications for karyotype evaluation, with recurrent pregnancy loss being the most common indication, followed by intellectual disability, dysmorphic features, congenital anomalies, and developmental delay.
RESULTS
RESULTS
The overall chromosomal abnormality rate was found to be 5.4%, with numerical abnormalities accounting for the majority of cases (61.7%). Trisomies, particularly trisomy 21, were the most frequent numerical abnormalities. In terms of structural abnormalities, inversions and translocations were the most commonly identified. The rates of chromosomal anomalies varied in specific indications such as amenorrhea, disorders of sex development, and Turner syndrome. The study also highlighted significant differences between males and females in the presence of chromosomal abnormalities across certain indications. Males exhibited a higher incidence of chromosomal abnormalities in cases of Down syndrome and infertility, whereas females showed higher abnormalities in terms of recurrent pregnancy loss.
CONCLUSION
CONCLUSIONS
While this study provides valuable insights into the frequency and distribution of chromosomal abnormalities, it has limitations, including its retrospective design and reliance on data from a single medical genetics department. Nevertheless, the findings emphasize the importance of karyotype analysis in diagnosing chromosomal disorders and providing appropriate management, while also pointing to potential gender-related variations in chromosomal abnormalities that warrant further investigation.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e24997Informations de copyright
© 2023 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.
Références
Benn PA. Prenatal diagnosis of chromosomal abnormalities through chorionic villus sampling and amniocentesis. In: Milunsky A, Milunsky JM, eds. Genetic Disorders and the Fetus. Willey Blackwell; 2021:404-498. doi:10.1002/9781119676980.ch11
EUROCAT. Prevalence charts and tables. European Commission. 2022. Accessed October 26, 2021. https://eu-rd-platform.jrc.ec.europa.eu/eurocat/eurocat-data/prevalence_en
Berisha SZ, Shetty S, Prior TW, Mitchell AL. Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects. Birth Defects Res. 2020;112(4):293-306.
Dundar M, Başaran S, Acar A. Tibbi Genetik ve Klinik Uygulamalari Bölüm 5. In: Dundar M, ed. Tibbi Genetik ve Klinik Uygulamalari. M Grup Matbaacılık; 2016:111-140.
Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175-2184.
Tulay P, Ergoren MC, Alkaya A, Yayci E, Sag SO, Temel SG. Inconsistency of karyotyping and array comparative genomic hybridization (aCGH) in a mosaic Turner syndrome case. Glob Med Genet. 2020;7(4):128-132.
Goud MT, Al-Harassi SM, Al-Khalili SA, Al-Salmani KK, Al-Busaidy SM, Rajab A. Incidence of chromosome abnormalities in the Sultanate of Oman. Saudi Med J. 2005;26(12):1951-1957.
Duarte AC, Cunha E, Roth JM, Ferreira FLS, Garcias GL, Martino-Roth MG. Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil. Genet Mol Res. 2004;3(3):303-308.
Balkan M, Akbas H, Isi H, et al. Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey. Genet Mol Res. 2010;9(2):1094-1103.
Belkady B, Elkhattabi L, Elkarhat Z, et al. Chromosomal abnormalities in patients with intellectual disability: a 21-year retrospective study. Hum Hered. 2019;83(5):274-282.
Clementini E, Palka C, Iezzi I, Stuppia L, Guanciali-Franchi P, Tiboni GM. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod. 2005;20(2):437-442.
Lei D, Zhang XY, Zheng PS. Recurrent pregnancy loss: fewer chromosomal abnormalities in products of conception? A meta-analysis. J Assist Reprod Genet. 2022;39:559-572.
Pritti K, Mishra V, Patel H, Patel K, Aggarwal R, Choudhary S. Cytogenetic evaluation of primary amenorrhea: a study of 100 cases at tertiary centre. Egypt J Med Hum Genet. 2022;23(1):1-7. doi:10.1186/s43042-022-00364-z
Dai R, Yu Y, Xi Q, et al. Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China. Mol Cytogenet. 2019;12(1):1-7. doi:10.1186/s13039-019-0457-x
Kessler RG, Sanseverino MTV, Leistner-Segal S, Magalhães JAA, Giugliani R. Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital. Genet Mol Biol. 2008;31(4):829-833.
Moorthie S, Blencowe H, Darlison MW, et al. Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide. J Community Genet. 2018;9(4):377-386.
Verma IC, Puri RD. Global burden of genetic disease and the role of genetic screening. Semin Fetal Neonatal Med. 2015;20(5):354-363.
Wellesley D, Dolk H, Boyd PA, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet. 2012;20(5):521-526.
Xie D, Yang W, Fang J, et al. Chromosomal abnormality: prevalence, prenatal diagnosis and associated anomalies based on a provincial-wide birth defects monitoring system. J Obstet Gynaecol Res. 2021;47(3):865-872. doi:10.1111/jog.14569
Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003;88(2):622-626.
Pal AK, Ambulkar PS, Waghmare JE, Shende MR, Jain M, Shivkumar PV. Cytogenetic analysis for suspected chromosomal anomalies - a retrospective study. J Clin Diagn Res. 2020;14:1-6.
McGowan-Jordan J, Hastings RJ, Moore S, eds. ISCN 2020: An International System for Human Cytogenomic Nomenclature (2020). Karger; 2020 (ISCN-an International system for human cytogenetic nomenclature).
Polipalli SK, Karra VK, Jindal A, et al. Cytogenetic analysis for suspected chromosomal abnormalities; a five years experience. J Clin Diagn Res. 2016;10(9):GC01-GC05.
Al Husain M, Zaki OK. A survey of 1000 cases referred for cytogenetic study to King Khalid University Hospital, Saudi Arabia. Hum Hered. 1999;49(4):208-214.
Zhang XH, Qiu LQ, Ye YH, Xu J. Chromosomal abnormalities: subgroup analysis by maternal age and perinatal features in Zhejiang province of China, 2011-2015. Ital J Pediatr. 2017;43:47.
Chang YW, Chang CM, Sung PL, et al. An overview of a 30-year experience with amniocentesis in a single tertiary medical center in Taiwan. Taiwan J Obstet Gynecol. 2012;51(2):206-211.
Puig M, Casillas S, Villatoro S, Cáceres M. Human inversions and their functional consequences. Brief Funct Genomics. 2015;14(5):369-379.
Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, et al. Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis. Eur J Hum Genet. 2011;19(11):1152-1160.
Madan K. Balanced complex chromosome rearrangements: reproductive aspects. A review. Am J Med Genet A. 2012;158A:947-963.
Ghadirkhomi E, Ghdirkhomi A, Angaji S. Cytogenetic studies in primary amenorrhoea cases. J Hum Reprod Sci. 2022;15(2):187-190.
Benchikh S, Bousfiha A, Razoki L, et al. Chromosome abnormalities related to reproductive and sexual development disorders: a 5-year retrospective study. Biomed Res Int. 2021;2021:1-11.
García-Acero M, Moreno O, Suárez F, Rojas A. Disorders of sexual development: current status and progress in the diagnostic approach. Curr Urol. 2020;13:169-178.
Aboussair N, Jaouad IC, Dequaqui SC, et al. Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in Morocco. Genet Test Mol Biomarkers. 2012;16(6):569-573.
Bondy C. Recent developments in diagnosis and care for girls in Turner syndrome. Adv Endocrinol. 2014;2014:1-9.
Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev. 2007;17:182-192.
Witters G, Van Robays J, Willekes C, et al. Trisomy 13, 18, 21, triploidy and Turner syndrome: the 5T's. Look at the hands. Facts Views Vis Obgyn. 2011;3(1):15-21.
Visootsak J, Graham JM. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006;1(1):42.
Bardsley MZ, Kowal K, Levy C, et al. 47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr. 2013;163(4):1085-1094.
Mierla D, Malageanu M, Tulin R, Albu D. Prevalence of chromosomal abnormalities in infertile couples in Romania. Balkan J Med Genet. 2015;18(1):23-29.
Meza-Espinoza JP, Ortiz Anguiano L, Rivera H. Chromosomal abnormalities in couples with reproductive disorders. Gynecol Obstet Invest. 2008;66(4):237-240.
Andó S, Koczok K, Bessenyei B, Balogh I, Ujfalusi A. Cytogenetic investigation of infertile patients in Hungary: a 10-year retrospective study. Genes (Basel). 2022;13(11):2086.
Gekas J, Thepot F, Turleau C, et al. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod. 2001;16(1):82-90.
Hawksworth DJ, Szafran AA, Jordan PW, Dobs AS, Herati AS. Infertility in patients with Klinefelter syndrome: optimal timing for sperm and testicular tissue cryopreservation. Rev Urol. 2018;20(2):56-62.
Bonomi M, Rochira V, Pasquali D, et al. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Invest. 2017;40(2):123-134. doi:10.1007/s40618-016-0541-6
Akınsal EC, Baydilli N, Dündar M, Ekmekçioğlu O. The frequencies of y chromosome microdeletions in infertile males. Turk J Urol. 2018;44(5):389-392.
Cheng R, Ma Y, Nie Y, et al. Chromosomal polymorphisms are associated with female infertility and adverse reproductive outcomes after infertility treatment: a 7-year retrospective study. Reprod Biomed Online. 2017;35(1):72-80.
Muthuvel A, Ravindran M, Chander A, Subbian C. Pericentric inversion of chromosome 9 causing infertility and subsequent successful in vitro fertilization. Niger Med J. 2016;57(2):142.
Ocak Z, Özlü T, Ozyurt O. Association of recurrent pregnancy loss with chromosomal abnormalities and hereditary thrombophilias. Afr Health Sci. 2013;13(2):447-452.
Pal AK, Ambulkar PS, Waghmare JE, Wankhede V, Shende MR, Tarnekar AM. Chromosomal aberrations in couples with pregnancy loss: a retrospective study. J Hum Reprod Sci. 2018;11(3):247-253.
Priya PK, Mishra VV, Roy P, Patel H. A study on balanced chromosomal translocations in couples with recurrent pregnancy loss. J Hum Reprod Sci. 2018;11(4):337-342.
Chakraborty A, Kar S, Mohapatra P, Banerjee B. A case-control study identifying the frequency and spectrum of chromosomal anomalies and variants in a cohort of 1000 couples with a known history of recurrent pregnancy loss in the Eastern region of India. J Hum Reprod Sci. 2021;14(4):422.
Dundar M, Caglayan AO, Saatci C, Batukan C, Basbug M, Ozkul Y. Can the classical euchromatic variants of 9q12/qh+ cause recurrent abortions? Genet Couns. 2008;19(3):281-286.
Kovaleva NV, Koval'chuk EV. Sex ratio in Down syndrome. Estimation of chromosome 21 non-disjunction during spermatogenesis. Tsitol Genet. 2002;36(1):50-502.
Kovaleva NV. Ch. 13. Gender affects clinical suspicion of Down syndrome. In: Dey S, ed. Prenatal Diagnosis and Screening for Down Syndrome. IntechOpen; 2011. doi:10.5772/19362
Gonçalves RO, Santos WVB, Sarno M, Cerqueira BAV, Gonçalves MS, Costa OLN. Alterações cromossômicas em casais com aborto recorrente de primeiro trimestre. Rev Bras Ginecol Obstet. 2014;36(3):113-117.
Sheth FJ, Liehr T, Kumari P, Akinde R, Sheth HJ, Sheth JJ. Chromosomal abnormalities in couples with repeated fetal loss: an Indian retrospective study. Indian J Hum Genet. 2013;19(4):415-422.
Fan HT, Zhang M, Zhan P, Yang X, Tian WJ, Li RW. Structural chromosomal abnormalities in couples in cases of recurrent spontaneous abortions in Jilin Province, China. Genet Mol Res. 2016;15(1):gmr7443.