Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

Polipalli, Sunil Kumar

doi:10.7860/jcdr/2016/19926.8494

Cited by 13 publications

(19 citation statements)

References 19 publications

(9 reference statements)

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“…The risk for Down syndrome was found to be almost twice as compared to other chromosomal abnormalities (RR 1.94, 95% CI 1.42-2.66, p<0.0001). A similar inference was observed by Polipalli et al with occurrence for Down syndrome in almost 81.4% of the study population [15]. The reason for high occurrence of chromosomal abnormalities might be due to the legal prohibition of termination of pregnancies, even though advanced prenatal diagnostic techniques are available in the country.…”

Section: Vol 7 | Issue 9 | September 2020supporting

confidence: 87%

“…Indian J Child Health 377 Polipalli et al in 2016 conducted a similar retrospective study to find the prevalence of chromosomal abnormalities in North Indian patients [15] and observed chromosomal abnormalities in 43.1% of their study population, whereas in our study, chromosomal abnormality was observed in 33% (p<0.0001) of the study population. Children aged from birth to 13 years were included (mean: 19.22±38.82 months), which is contrary to Polipalli et al study which included individuals from birth to 37 years of age (mean: 7.9±8.1 years).…”

Section: Vol 7 | Issue 9 | September 2020contrasting

confidence: 50%

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Phenotypic variance in children with chromosomal aberrations – A cohort study

Abouzaid¹,

James²,

Shatla³

2020

Indian J Child Health

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C hromosomal abnormalities occur in approximately 8% of fertilized ova but only 0.6% of liveborn infants. The syndromes caused by chromosomal abnormalities include trisomy 21, trisomy 13, trisomy 18, Turner syndrome, Klinefelter syndrome, as well as chromosomal duplications, deletions, and inversions [1]. Fida et al. in 2007 reported that congenital anomalies occur in 3% of all infants worldwide including structural malformation, chromosomal abnormalities, and metabolic disorders [2]. Chromosomal abnormalities can be either inherited from a parent (e.g., translocation) or can develop spontaneously. Hence, chromosomal studies are performed on both the parents and the child with the abnormality. Advances in molecular biology and cytogenetic techniques permit the identification of many diverse types of genomic variants, which contribute to human disease, phenotypic variation, and karyotypic evolution [3]. Nearly 60% of congenital anomalies are of unknown origin. Genetic congenital anomalies, such as chromosomal abnormalities, have a vast research while those of environmental etiology caused by teratogens, are the least investigated [4]. In addition to genetic causes for congenital anomalies, factors such as infectious agents and environmental agents like radiation lead to chromosomal aberrations [5]. The maternal factors including age, lifestyle, type of pregnancy and maternal health, have also been researched and connected to the occurrence of congenital anomalies [6]. Primary prevention seeks to ensure that the individuals are born free of congenital anomalies. Services for the primary prevention of congenital malformations include basic reproductive health-care approach [7]. Cytogenetic techniques can diagnose chromosomal abnormalities and investigate the possible etiology of birth defects. It is important to know the clinical data of chromosomal abnormalities to explore the corresponding relationship between the observational characteristics of an individual resulting from the interaction of its genotype and the environment [8]. Although congenital anomalies contribute to a significant proportion of perinatal and infant morbidity and mortality, approximately 50% of them are not assigned to a specific cause [9]. However,

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Section: Vol 7 | Issue 9 | September 2020supporting

confidence: 87%

Section: Vol 7 | Issue 9 | September 2020contrasting

confidence: 50%

Phenotypic variance in children with chromosomal aberrations – A cohort study

Abouzaid¹,

James²,

Shatla³

2020

Indian J Child Health

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“…Metaphase chromosomes were arrested through Colcemid addition for 30 minutes followed by hypotonic KCl treatment for one hour and later fixation was done by using 3:1 methanol-acetic acid mix. G-banding was performed by Geimsa and Trypsin treatment; according to standard method 3. Karyotypes were recorded according to the recommendations of ISCN, 2013 11…”

Section: Methodsmentioning

confidence: 99%

“…Spontaneous miscarriage (SM) is defined as the loss of an embryo before 20 th week of gestation or if the fetus loss with less than 400g of weight. Spontaneous miscarriage (SM) is the most familiar complication of pregnancy at the rate15-20% of all quantifiable pregnancies 2,3…”

Section: Introductionmentioning

confidence: 99%

“…Spontaneous miscarriage (SM) is the most familiar complication of pregnancy at the rate15-20% of all quantifiable pregnancies. 2,3 Recurrent spontaneous miscarriage (RSM) is described as two or more consecutive pregnancy losses before the 20th week of gestation, though it over all distresses 3% of the couples attempting to begin a family. 4 The etiology of RSM is often uncertain and may have several factors, with a great extent of debate regarding diagnosis and treatment.…”

Section: Introductionmentioning

confidence: 99%

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Cytogenetic investigation of couples with recurrent spontaneous miscarriages

Hanif

Khan²,

Arif³

et al. 2019

Pak J Med Sci

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Background & Objective: Spontaneous pregnancy loss has always been the frustrating experience for the couples and concern clinician. Chromosomal abnormality in either of the parent is considered to be the one of the leading cause of recurrent spontaneous miscarriages. This study was designed to evaluate the possible chromosomal etiology of miscarriage and the subsequent intimacy of maternal or paternal genetic abnormality. Methods: This case-control study was conducted between January 2016 and October 2016 at a tertiary care hospital in Karachi. A total of thirty-two couples were selected who had suffered with recurrent spontaneous miscarriages (RSM). Using conventional cytogenetic technique karyotyping was performed on all of the subjects. For the control twenty couples were also selected with no history of pregnancy loss. All the karyotypes were recorded on the standard method. Data was analyzed through SPSS version 22. Results: Among thirty-two cases nine cases were found to have abnormal karyotype. In which sex chromosomal trisomy=02 (46,XY/47,XXY), marker chromosome=01 (47,XX,+mar), Robertsonian translocation=01 (45,XY,der,(14:21),(q10;q10)), reciprocal translocation=01 (46,XX,t(11;22)(q23;q11.2)), inversion=02 (46,XX,inv(9)(p11q13)) and minor structural abnormalities=02 (46,XX,15PS+) were found. Approximately equal ratio with 1:1.25 was observed among male and female carrier respectively. Non-significant difference was found between the ages of both carriers (p=0.34). Though a significant different value was calculated in the case of number of miscarriage (p=0.004*). Moreover, no significant association was found among spontaneous miscarriage (SM) and recurrent spontaneous miscarriage (RSM) with respect to maternal age (p= 0.157). Conclusion: In the recent study possible chromosomal abnormalities suggested the evaluation of the patient with the history of recurrent spontaneous miscarriage must include conventional cytogenetic. Moreover, probe development and extended investigation can ease the prognosis among pregnancy related complication. doi: https://doi.org/10.12669/pjms.35.5.678 How to cite this:Hanif MI, Khan A, Arif A, Shoeb E. Cytogenetic investigation of couples with recurrent spontaneous miscarriages. Pak J Med Sci. 2019;35(5):---------. doi: https://doi.org/10.12669/pjms.35.5.678 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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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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Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

Cited by 13 publications

References 19 publications

Phenotypic variance in children with chromosomal aberrations – A cohort study

Phenotypic variance in children with chromosomal aberrations – A cohort study

Cytogenetic investigation of couples with recurrent spontaneous miscarriages

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

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