Cytogenetic Analysis for Suspected Chromosomal Anomalies- A Retrospective Study

Pal, Asoke K; Ambulkar, Prafulla S; Waghmare, Jwalant E; Shende, Moreshwar R; Jain, Manish; Shivkumar, Poonam Verma

doi:10.7860/jcdr/2020/43678.13688

Cited by 3 publications

(5 citation statements)

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“… 23 found 43.1% in 859 patients, Al Husain and Zaki 24 found 13.4% in 1000 patients, and Pal et al. 21 found 12.23% in 2215 patients. However, the detection of chromosomal anomalies in only 5.4% of the patients referred revealed the importance of clinicians making a good clinical evaluation to use the resources correctly before directing the patients to chromosomal analysis.…”

Section: Discussionmentioning

confidence: 95%

“…Polipalli et al 23 . found 43.1% in 859 patients, Al Husain and Zaki 24 found 13.4% in 1000 patients, and Pal et al 21 . found 12.23% in 2215 patients.…”

Section: Discussionmentioning

confidence: 97%

“…However, few studies have focused on postnatal chromosomal abnormalities 20,21 . In this study to fill this gap in the literature, we aimed to reveal the postnatal chromosomal anomaly rate in our cohort.…”

Section: Introductionmentioning

confidence: 99%

“…[14][15][16][17][18][19] However, few studies have focused on postnatal chromosomal abnormalities. 20,21 In this study to fill this gap in the literature, we aimed to reveal the postnatal chromosomal anomaly rate in our cohort. For this purpose, chromosome analysis results obtained from peripheral blood samples of 14,242 patients who applied to Erciyes University Medical Genetics Department were examined.…”

Section: Introductionmentioning

confidence: 99%

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

Akalin,

Sahin,

Paskal

et al. 2023

Clinical Laboratory Analysis

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Background and AimChromosomal 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.MethodThe 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.ResultsThe 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.ConclusionWhile 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.

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Section: Discussionmentioning

confidence: 95%

“…Polipalli et al 23 . found 43.1% in 859 patients, Al Husain and Zaki 24 found 13.4% in 1000 patients, and Pal et al 21 . found 12.23% in 2215 patients.…”

Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Akalin,

Sahin,

Paskal

et al. 2023

Clinical Laboratory Analysis

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“…Additionally, they are mostly to blame for prenatal and neonatal mortality in underdeveloped nations 2 . Cytogenetics analysis has grown significantly in importance over the past ten years as a tool for genetic counselling, which deals with the human issues connected to the presence or risk of a genetic disorder in a family and aids in understanding the diagnosis, prognosis, and available management, as well as the genetic basis, likelihood of recurrence, and available options 3 . Objective of the present study is to assess the prevalence and kind of chromosomal abnormalities in high-risk pregnancies utilizing karyotype and FISH analysis of amniotic fluid cells.…”

Section: Introductionmentioning

confidence: 99%

Untitled

2024

IJPSR

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Background:The most important factor contributing to human genetic problems is chromosomal abnormalities. It is crucial to choose screening tests and diagnostic procedures that are exact, accurate, safe, and able to be conducted during early pregnancy in order to make the best-informed choice possible while taking into account the probable outcomes of pregnancy. Method and Material: In the present prospective study chromosomal analysis was done for various types of suspected 900 referred patients. The patients were referred from mainly Gynaecology hospital Usha Nursing Home and Sat Kaival Hospital, Anand in association with Gene Care Accuris Laboratory, Surat from June 2021 to March 2023. Result: The overall frequency of chromosomal abnormalities was 2.5% (23/900). Out of 23 cytogenetic abnormal patients, numerical abnormalities were found in 21(2.33%) and structural abnormalities we detected in 02(0.22%) patients. The most common autosomal abnormalities were Down' syndrome 18(2%). Another abnormality was Edward's Syndrome 03(0.33%). Chromosomal structural disorder occupied 02(0.22%) including robertsonian translocation. Conclusion: To avoid the delivery of foetuses with chromosomal disorders, karyotype screening of amniotic fluid is a crucial strategy. Our results underline the significance of cytogenetic investigations in individuals with signs of prenatal diagnosis because an aberrant finding not only gives patients the option of terminating or continuing their pregnancies but also serves as a foundation for genetic counselling and helps in creating a healthier society.

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Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients

Demırhan

Tunç

2022

Chromosoma

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Cytogenetic Analysis for Suspected Chromosomal Anomalies- A Retrospective Study

Cited by 3 publications

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

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

Untitled

Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients

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