Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patients

• Published in: Journal of clinical laboratory analysis 2024-01, Vol.38 (1-2), p.e24997-n/a
• Main Authors: Akalin, Hilal, Sahin, Izem Olcay, Paskal, Seyma Aktas, Tan, Busra, Yalcinkaya, Ezgi, Demir, Mikail, Yakubi, Mustafa, Caliskan, Busra Ozguc, Ekinci, Ozlem Gokce, Ercan, Mehmet, Kucuk, Tugce Yasar, Gokgoz, Gizem, Kiraz, Aslihan, Per, Huseyin, Ozgun, Mahmut Tuncay, Baydilli, Numan, Ozkul, Yusuf, Dundar, Munis
• Format: Article
• Language: English
• Subjects: Abortion, Habitual - genetics; Amenorrhea; Births; Child development; chromosomal abnormality; Chromosome Aberrations; Chromosome Disorders - diagnosis; Chromosome Disorders - epidemiology; Chromosome Disorders - genetics; Chromosome translocations; Chromosomes; Congenital defects; Congenital diseases; Differences of sex development; Down syndrome; Down Syndrome - epidemiology; Down Syndrome - genetics; Female; Females; gender; Genetic counseling; Genetic disorders; Humans; Infertility; Intellectual disabilities; karyotype; Karyotypes; Male; Males; Patients; postnatal; Pregnancy; Retrospective Studies; Stillbirth; Trisomy; Turner's syndrome
• ISSN: 0887-8013; 1098-2825; 1098-2825
• DOI: 10.1002/jcla.24997

Background and Aim 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 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 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 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. This retrospective study examined various indications for classical karyotype evaluation in a large cohort of 14,242 patients. The overall chromosomal abnormality rate was 5.4%. The most common chromosomal abnormalities were Down syndrome (trisomy 21), inversions, and translocations. Males were more likely to have chromosomal abnormalities in cases of Down syndrome and infertility, while females were more likely to have chromosomal abnormalities in cases of recurrent pregnancy loss.