Frequency Of Chromosomal Abnormalities Research Articles

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.

Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia, defined as having an onset before the age of 13. The male COS cases have a slightly younger age of onset than female cases. They also present with a higher rate of comorbid developmental disorders. These sex differences are not explained by the frequency of chromosomal abnormalities, and the contribution of other forms of genetic variations remains unestablished. Using a whole-exome sequencing approach, we examined 12 COS trios where the unaffected parents had an affected male child. The sequencing data enabled us to test if the hemizygous variants, transmitted from the unaffected carrying mother, could mediate the phenotype (X-linked recessive inheritance model). Our results revealed that affected children have a significantly greater number of X-linked rare variants than their unaffected fathers. The variants identified in the male probands were mostly found in genes previously linked to other neuropsychiatric diseases like autism, intellectual disability, and epilepsy, including LUZP4, PCDH19, RPS6KA3, and OPHN1. The level of expression of the genes was assessed at different developmental periods in normal brain using the BrainSpan database. This approach revealed that some of them were expressed earlier in males than in females, consistent with the younger age of onset in male COS. In conclusion, this article suggests that X-linked genes might play a role in the pathophysiology of COS. Candidate genes detailed here could explain the higher level of comorbidities and the earlier age of onset observed in a subset of the male COS cases.

Analysis of copy number variation by CMA in fetus with increased nuchal translucency

Objective: To investigated the clinical value of chromosomal microarray analysis (CMA) in fetuses with increased nuchal translucency (NT) . Methods: Totally 101 cases out of 19 261 singleton fetuses who underwent the first trimester (11-13+6 weeks) ultrasound examination from January 2015 to June 2017 at First Affiliated Hospital of Sun Yat-sen University were diagnosed with NT ≥2.5 mm and underwent invasive prenatal test for fetal karyotype and CMA. According to the combination of other ultrasound abnormalities, the cases were divided into isolated group (67.3%, 68/101) and complicated group (32.7%, 33/101) . In addition, the cases were divided into 5 groups according to the thickness of NT, 2.5-2.9 mm (borderline thickening; 16.8%, 17/101) , 3.0-3.4 mm (33.7%, 34/101) , 3.5-4.4 mm (16.8%, 17/101) , 4.5-5.4 mm (15.8%, 16/101) , and ≥5.5 mm (16.8%, 17/101) . Chi square test was used to detect the different rates of other combined ultrasound abnormalities and abnormal chromosome between 5 groups. Results: The median thickness of NT was 3.4 mm (2.5-8.5 mm) . And 32 cases (31.7%, 32/101) had abnormal karyotype. There was a significant difference in the frequency of abnormal karyotype between the isolated and the complicated group (20.6% vs 54.5%, P<0.01) . Among 69 cases (68.3%, 69/101) of normal karyotype, 3 cases (4.3%, 3/69) were detected with pathogenic copy number variation (CNV) by CMA. Thirty-five cases with chromosomal abnormalities (include abnormal karyotype and pathogenic CNV) , there was a significant difference in the frequency of chromosomal abnormalities between the isolated and the complicated group (23.5% vs 57.6%, P=0.001) . The median age of pregnant women in 5 groups was 35 years (24-39 years) , 33 years (23-46 years) , 31 years (21-46 years) , 33 years (21-41 years) and 35 years (21-43 years) . The rates of chromosomal abnormalities increased with the increase of NT thickness. There was significant difference in the incidence of associated chromosomal abnormalities among 5 groups (P<0.05) . Comparative analysis within the 5 groups, the incidence of associated chromosomal abnormalities between NT 2.5-2.9 mm and ≥5.5 mm was significantly different (P=0.005) , while the differences between the other groups were not significant (P>0.05) . Conclusions: There is a high risk of fetal chromosomal abnormalities in borderline NT thickening (2.5-2.9 mm) at advanced maternal age, but the pathogenic CNV is not detected. Chromosomal microdeletion or microduplication could be further detected in the NT thickening (≥3.0 mm) fetuses with normal karyotype by chromosome microarray analysis, while the positive rate is relatively low, and the variants of unknown significance might be detected.

Higroma quístico retronucal como marcador de anomalías cromosómicas en el primer trimestre de la gestación

Antecedentes. El higroma quístico retronucal es el marcador de anomalías cromosómicas identificado con mayor frecuencia en el tamizaje del primer trimestre. Objetivo. Evaluar la asociación del higroma quístico retronucal y anomalías cromosómicas diagnosticadas con el cariotipo, entre el primer y segundo trimestre del embarazo. Diseño. Estudio retrospectivo. Institución. Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Perú. Pacientes. Fetos con higroma quístico retronucal. Método. Estudio de fetos con higroma quístico retronucal, obtenidos de la base de datos de ILSAR, entre agosto del 2007 y mayo del 2018, diagnosticados por ecografía entre las 11 y 13,6 semanas. El higroma quístico retronucal se definió como la presencia de contenido líquido tabicado en el corte axial retronucal con un grosor mayor al percentil 95 del valor de translucencia nucal aumentada para la longitud corona-nalga. Se obtuvo el cariotipo entre el primer y segundo trimestre en material obtenido por biopsia de vellosidades coriales (BVC) o amniocentesis (AMC). Principales medidas de resultados. Los resultados del cariotipo fueron comparados entre los casos de higroma quístico solo y los casos que tuvieron higroma y adicionalmente otro marcador. Resultados. De un total de 459 procedimientos invasivos realizados en fetos con alto riesgo para anomalías cromosómicas en base al Fetal test de España, hubieron 162 casos de anomalías cromosómicas (35,3%) y se identificó 104 casos de higroma quístico retronucal (22s7%). El hallazgo de higroma quístico retronucal se asoció con mayor presencia de anomalías cromosómicas, comparado con los fetos sin higroma quístico (52,9% vs. 30,1%; p&lt;0,001). De 61 casos de higroma solo, 42,3% tenían anomalía cromosómica, y cuando el higroma estaba asociado a otros marcadores (hidrops fetal, ductus venoso anormal, cardiopatía, ausencia de hueso nasal), hubo 65,1% de anomalías cromosómicas. Hubo diferencia estadística significativa (p=0,003) para la presencia de monosomía X, entre el grupo con higroma solo y el de higroma + hidrops fetal. No hubo diferencia en el grosor del higroma entre el grupo con y sin anomalía cromosómica. Conclusiones. El higroma quístico retronucal es un marcador de riesgo con alto valor predictivo para anomalías cromosómicas. Su identificación en el tamizaje prenatal podría ser indicación para recomendar una prueba diagnóstica. Cuando se asocia a anormalidad del flujo del ductus venoso o hidrops fetal, aumentan significativamente las anomalías cromosómicas. El higroma asociado conhidrops se vinculó mayoritariamente a la monosomía X, mientras que el higroma asociado con onda de velocidad de flujo-OVF de ductus venoso anormal a la trisomía 21.

Surgical repair of long-gap esophageal atresia: A retrospective study comparing the management of long-gap esophageal atresia in the Nordic countries

BackgroundSeveral surgical procedures have been described in the reconstruction of long-gap esophageal atresia (LGEA). We reviewed the surgical methods used in children with LGEA in the Nordic countries over a 15-year period and the postoperative complications within the first postoperative year. MethodsRetrospective multicenter medical record review of all children born with Gross type A or B esophageal atresia between 01/01/2000 and 12/31/2014 reconstructed within their first year of life. ResultsWe included 71 children; 56 had Gross type A and 15 type B LGEA. Delayed primary anastomosis (DPA) was performed in 52.1% and an esophageal replacement procedure in 47.9%. Gastric pull-up (GPU) was the most frequent procedure (25.4%). The frequency of chromosomal abnormalities, congenital heart defects and other anomalies was significantly higher in patients who had a replacement procedure. The frequency of gastroesophageal reflux (GER) was significantly higher after DPA compared to esophageal replacement (p = 0.013). At 1-year follow-up the mean body weight was higher after DPA than after organ interposition (p = 0.043). ConclusionDPA and esophageal replacement procedures were equally applied. Postoperative complications and follow-up were similar except for the development of GER and the body weight at 1-year follow-up. Long-term results should be investigated. Type of studyTreatment study. Level of evidenceLevel III.

Antenatal screening for chromosomal and genetic abnormalities:Cost effectiveness and outcome

Introduction: As an essential part of antenatal care, pregnant women of all ages should be offered screening for chromosomal abnormalities before 20 weeks of gestation. This study was aimed to evaluate the type and frequency of chromosomal abnormalities following pregnancy screening tests, so that we can compare the actual pregnancy outcomes with test results, helping us in practical decision making. Methods: A cross-sectional study was conducted on 557 pregnant patients, presenting for prenatal diagnostic amniocentesis for chromosomal abnormalities, to Al-Zahra hospital, Tabriz, Iran, since 2012 to 2015. Amniocentesis was conducted by an expert obstetrician at second trimester between 16 and 22 weeks of gestation. An interview was set for pregnancy outcomes to assess the test results. Results: Of 557 cases, the mean maternal age in amniocentesis was 31.84 ± 6.92 years (range: 15-47 years). Amniocentesis revealed the presence of chromosomal abnormalities in 32 cases (5.7%). The most common diagnosed chromosomal abnormality was Down syndrome (50.0%) followed by other chromosomal abnormalities. Following up the patients, 92.4% of newborns did not have any congenital abnormality, but the remaining (7.6%) had both chromosomal and non-chromosomal abnormalities. No fetal loss was reported in this study. Assessment of total costs revealed that $US100 had been spent for hospitalization, and about $US500 for genetic tests. Conclusion: There is still no consensus on the most cost-effective strategy that should be implemented to diagnose chromosomal anomalies. Therefore, we did not have an actual gold standard to compare with amniocentesis. More studies analyzing natural outcome after prenatal diagnosis of these chromosomal abnormalities are needed

Cytogenetic abnormalities in couples with a history of primary and secondary recurrent miscarriage: a Brazilian Multicentric Study

Objective: To evaluate the difference between chromosomal abnormalities between the gender of couples affected by Recurrent miscarriage (RM) and if there is an association between previous obstetric history and chromosomal abnormalities of the parents.Methods: Multicenter, retrospective, observational study from seven different RM clinics between 2006 and 2016. We enrolled 707 couples (1014 participants) with a history of RM. We compared the frequency of chromosomal abnormalities between groups of couples with primary and secondary RM and separated between women and their partners. Furthermore, we compared the prevalence of chromosomal abnormalities between groups based on the number of previous spontaneous abortions.Results: The overall prevalence of all cytogenetic abnormalities was 5.59% (n = 1414, women and their partners). Excluding cases of polymorphism and inversion of chromosome 9, which are considered variants of normality, the prevalence in all individuals was 2.26% (n = 32/1414). The comparative analysis of cases of chromosomal abnormalities among couples with primary and secondary RM based on the number of previous miscarriages (PM) revealed a similar frequency between groups. The statistical analysis of the total cases (primary PM + secondary PM) in these three groups were as follows: (a) couple, 2 pm versus 3 pm vs. ≥4 PM, p = .514; (b) women, 2 pm versus 3 pm vs. ≥4 PM, p = .347; and (3) partner, 2 pm versus 3 pm vs. ≥4 PM, p = .959. Chromosomal abnormalities were significantly more prevalent among women than among their partners (6.9 versus 4.2%; p = .027). Moreover, the distribution of leading chromosomal abnormalities among women was different compared with their partners. Among women, we observed these abnormalities in the following frequency order: mosaicism (38.8%), polymorphism (32.6%), translocation (16.3%), and inversion (12.3%). Among their partners, these abnormalities were polymorphism (73.3%), inversion (13.3%), mosaicism (6.7%), and translocation (6.7%).Conclusion: The number of PM and the history of full-term pregnancy does not correlate with an increase or decrease in the prevalence of cytogenetic abnormalities in couples with RM.

Effect of Carbafuran Pesticide on Mitotic Chromosomes of Mus musculus

The Genotoxic effect of the carbafuran pesticide was evaluated in the metaphasic chromosomes of bone marrow cells of female Swiss albino mice, Mus musculus . Six week old mice were put into different groups(six mice per group) and treatment were done according to experimental plan (CLD15 i.e. lower dose =30ppm or 0.03mg/ml and CHD30 i.e. higher dose =300ppm or 0.3mg/ml).The test material was administered orally for 15 days in CLD15 and for 30 days in CHD30 test groups of female mice. The result revealed that the frequency of chromosomal abnormalities i.e. structural and numerical changes were11.5% in control, 74.0%in CLD15 and 99.0%in CHD30, respectively in bone marrow cells of female mice.Int. J. Appl. Sci. Biotechnol. Vol 6(2): 169-173

Cytogenetic Impact of Gamma Irradiation and its Effect on Growth and ‎Yield of of Three Soybean Cultivars ‎

HEALTHY seeds of three soybean cultivars; Crawford, Giza 111 and Giza 35 were irradiated with γ-irradiationat doses ranging from 100Gy to 600Gy with 100Gy interval. The cytogenetic impact of the applied doses was assessed in M1 and M2 plants, on mitotic activity and chromosomes in root tip meristems and vegetative growth, expressed as shoot and root length and fresh and dry weight of shoot and root as well as leaf area. The low doses of 100 and 200Gy increased mitotic activity, expressed as mitotic index MI and enhanced growth rate. In contrary, higher doses significantly retarded mitotic activity, increased the frequency of chromosomal abnormalities and reduced vegetative growth and yield, expressed as number of pods and seeds weight. The frequency of chromosomal abnormalities was dose dependent and its percentage varied among cultivars. Chromosomal stickiness and non-congression were the most common abnormalities at metaphase and chromosomal bridges and free chromosomes were the most common aberrations at ana-telophase whereas C-metaphase and c lagging chromosomes were only occasionally observed. No abnormalities were reported in the interphase of the M1 plants, but in the M2 plants, micronuclei and vacuolation of nuclei were frequently observed. The abnormalities reported here are mainly due to a clastogenic action that may have cause breakage and reunion of chromosomes. These findings emphasise the importance of assessing mitotic activity and chromosomes behaviour in plants used for mutation breeding to predict changes invegetative traits and yield of target genotypes.

Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis

Abstract Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors “chromosomal abnormalities and abortions and prevalence”. After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.

Cytogenetic Findings on 11,451 Cases of Amniocentesis in Hanoi, Vietnam

Since the 1960s, amniocentesis has become a routine procedure performed in prenatal diagnostic clinics. This study aims to depict the results of amniocentesis, the frequency of chromosomal abnormality and emphasize on amniocentesis indications. A retrospective study was conducted on 11,451 cases who were referred to the Prenatal Diagnosis Center, the National Hospital of Obstetrics and Gynecology, Hanoi, Vietnam from 2012 to 2016. The rate of chromosomal abnormality was 6.7%. The chromosomal aberration in the group with mother or father carrying balanced parental translocations accounted for the highest rate of 22.0%. Triploidy was 1.2%, autosomal chromosome aberration was 59.7%, sex chromosome was 8.3%, and structural rearrangements was 30.8%. Trisomy 21 was the most frequent disorder founded in abnormal ultrasound findings (47.4%), following by the advanced maternal age (44.1%). The large sample size of this study provided reliable evidence to support the development of prenatal counseling and pregnancy management programs.

Неслучайное распределение кариотипов эмбрионов у женщин с привычным невынашиванием беременности

Привычное невынашивание беременности (ПНБ) - это потеря двух и более беременностей подряд, затрагивающая до 5% супружеских пар в популяции. Средняя частота хромосомных аномалий у спонтанных абортусов человека составляет около 50%, и если считать возникновение хромосомных аномалий случайным событием, то, независимо от кариотипа первого выкидыша, последующий в половине случаев должен быть цитогенетически нормальным. Целью данной работы было определить, существует ли закономерная повторяемость хромосомной конституции у спонтанных абортусов от одной супружеской пары. Прокариотипировано 108 случаев повторной гибели эмбриона в 51 семье. Кариотип абортусов был получен с использованием комбинации нескольких методов: стандартного цитогенетического анализа, сравнительной геномной гибридизации (CGH), флуоресцентной гибридизации in situ (FISH) и сравнительной геномной гибридизации на микрочипах (aCGH) (73, 29, 3 и 3 образца соответственно). Среди обследованных женщин 35% (18/51) были здоровы, а 59% (30/51) имели заболевания женской половой сферы, ассоциированные с ПНБ. Отношение шансов (OR) потери второго эмбриона с таким же кариотипом (нормальным или аномальным), как и у первого абортуса, составило 6,98 (95% CI: 2,04-23,88; p = 0,0013). У 19 женщин из 51 (37%) все погибшие зародыши были с нормальным кариотипом, причем у 7 из этих женщин не было выявлено патологии, обусловливающей невынашивание беременности. Оба выкидыша с аномалиями кариотипа имели 35% (18/51) женщин, из них у 6 женщин аномалии эмбрионов представляли собой повторные трисомии по различным хромосомам (гетеротрисомии), еще в одной семье оба абортуса имели трисомию 16. Одиннадцать случаев повторной гибели эмбрионов оказались сочетанием различных типов аномалий. Средний возраст женщин с двумя трисомными выкидышами оказался выше, чем у женщин с двумя выкидышами с различными типами аномалий (33,1 ± 3,45 и 28,7 ± 5,78 года соответственно, p = 0,025). Вероятность того, что последующий абортус будет иметь такой же кариотип (нормальный или аномальный), что и предыдущий, повышена. Повторные выкидыши с нормальным кариотипом могут быть обусловлены наличием у женщин этиологических факторов невынашивания, не диагностируемых стандартными методами обследования. Некоторые пациентки с повторными трисомиями абортусов, возможно, имеют более высокий риск хромосомного нерасхождения, чем другие женщины в том же возрасте. Сочетание у абортусов от одной женщины аберраций различных типов скорее всего случайно: маловероятно, чтобы наличие конкретного типа аномалии могло быть связано с повышенным риском возникновения другого типа аномалий, так как их формирование обусловлено различными механизмами. Introduction. Recurrent pregnancy losses is the loss of two or more consecutive pregnancies, it affects up to 5% of couples in the population. The average frequency of chromosomal abnormalities in human spontaneous abortions is about 50%, and if the chromosomal abnormalities are random events, the subsequent abortion should be cytogenetically normal in half of the cases, regardless of the karyotype of the previous miscarriage. The aim of this study was to determine is there a regular occurrence of the chromosome constitution in spontaneous abortions from the same woman. Materials and methods. A total of 108 cases of recurrent embryonic death in 51 families were studied. The karyotype of abortion was obtained using a combination of methods: standard cytogenetic analysis (73), CGH (29), FISH and aCGH (3 samples each). 35% (18/51) of women were healthy, 59% (30/51) had diseases associated with miscarriage. Results. The odds ratio (OR) of the loss of the second embryo with the same karyotype (normal or abnormal), as in the first abortion, was 6.98 (95% CI: 2.04-23.88, p = 0.0013). In 19 women from 51 (37%), all the dead embryos had normal karyotypes, and 7 of these women did not have a pathology that caused miscarriage. Among women with RM 35% (18/51) had both miscarriages with abnormal karyotypes. Of these, in 6 women, embryo anomalies were repeated trisomy of different chromosomes (heterotrisomies), in one family both abortions had trisomy 16. Eleven cases of repeated death of embryos proved to be a combination of different types of anomalies. The average age of women with two trisomic miscarriages was higher than in women with miscarriages with different types of anomalies (33.1 ± 3.45 and 28.7 ± 5.78 years, respectively, p = 0.025). Conclusions. The likelihood for subsequent abortion to be of the same karyotype (normal or abnormal), as the previous one, is increased. Repeated miscarriages with normal karyotypes may be due to the women’s etiological factors of miscarriage that were not diagnosed by standard survey methods. Some patients with recurrent trisomic abortions may have an increased risk of chromosomal nondisjunction than other women at the same age. The combination of abortions with different types of abnormalities from one woman is most likely random: it is unlikely that the presence of a specific type of anomaly could be associated with an increased risk of another type of anomaly, because different mechanisms are involved in their formation.

High resolution global chromosomal aberrations from spontaneous miscarriages revealed by low coverage whole genome sequencing

ObjectiveChromosome aberrations are generally considered as one of the most substantial causative factors contributing to spontaneous miscarriages. Cytogenetic analyses like G-banded karyotype and chromosomal microarray analyses are often performed to further investigate the chromosome status of a miscarried fetus. Study designHere, we describe a novel method, AnnoCNV, to detect DNA copy number variations (CNVs) using low coverage whole genome sequencing (WGS). We investigated the overall frequency of chromosomal abnormalities in 149 miscarriage specimens using AnnoCNV. ResultsAmong 149 fetal miscarriage samples, more than two fifths of them (42.95%, 64) carried at least one chromosomal abnormality, and a subset (40) was identified as autosomal trisomy which account for 26.84% of all samples. We have also developed a robust algorithm in AnnoCNV, which is able to differentiate specifically karyotype 69,XXY from sex chromosomal aneuploidy 45,X, and to identify 45,X/46,XX mosaicism. Lastly, across the whole genome AnnoCNV identifies CNVs, which are associated with both reported symptoms and unknown clinical conditions. ConclusionThis cost-effective strategy reveals genome wide discovery of chromosome aberrations at higher resolution, which are consistent with parallel investigation conducted by SNP based assay.

When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell-free DNA aneuploidy screens.

This study characterizes cytogenetic abnormalities with ultrasound findings to refine counseling following negative cell-free DNA (cfDNA). A retrospective cohort of pregnancies with chromosome abnormalities and ultrasound findings was examined to determine the residual risk following negative cfDNA. Cytogenetic data was categorized as cfDNA detectable for aneuploidies of chromosomes 13, 18, 21, X, or Y or non-cfDNA detectable for other chromosome abnormalities. Ultrasound reports were categorized as structural anomaly, nuchal translucency (NT) ≥3.0mm, or other "soft markers". Results were compared using chi squared and Fishers exact tests. Of the 498 fetuses with cytogenetic abnormalities and ultrasound findings, 16.3% (81/498) had non-cfDNA detectable results. In the first, second, and third trimesters, 12.4% (32/259), 19.5% (42/215), and 29.2% (7/24) had non-cfDNA detectable results respectively. The first trimester non-cfDNA detectable results reduced to 7.7% (19/246) if triploidy was detectable by cfDNA testing. For isolated first trimester NT of 3.0-3.49mm, 15.8% (6/38) had non-cfDNA detectable results, while for NT ≥3.5mm, it was 12.3% (20/162). For cystic hygroma, 4.3% (4/94) had non-cfDNA detectable results. Counseling for residual risk following cfDNA in the presence of an ultrasound finding is impacted by gestational age, ultrasound finding, and cfDNA detection of triploidy.

Frequency of Chromosomal Abnormalities in Subpopulations of Infertile Males among Chinese Hakka Population

The frequency of chromosomal abnormalities is supposed to be elevated in infertile males as well as shown negative correlation of sperm concentration. Cytogenetic analysis, recommended by guidelines in infertile men, is expensive. Hence, it may be good for recognize riskiest men with chromosomal abnormalities, potentially by analyzing sperm concentration outside of the parameters. Aim to evaluate the frequency of chromosomal abnormalities in different subpopulations among Hakka population, we assessed several clinical parameters in infertile men. A total of 1291 azoospermic men and men apply for in-vitro fertilization (IVF) treatment, were analyzed for semen parameters, hormone levels, Y chromosome microdeletions and medical history, related to chromosomal abnormalities. Chromosomal abnormalities were detected 46 of 1291 men (3.6%) in our study. Correlation was no shown between chromosomal abnormalities and sperm parameters except for sperm volume (OR 0.76, P=0.029). Significantly, azoospermia was related to an increased frequency of chromosomal abnormalities (OR 32.24, P<0.001). Elevated gonadotropic hormone levels, meaningfully, was related to the risk of carrying a chromosome abnormality (OR 4.38, P<0.001). Lower rate of chromosomal abnormalities was observed in infertile males with positive andrologic history (OR 0.21, P=0.003). Previous miscarriages, related to an increased frequency of chromosomal abnormalities, were discovered in non-azoospermic men (OR 4.78, P=0.003). The results indicated that azoospermic men with hypergonadotrophic as well as an eventless andrologic history have frequently risk of chromosomal abnormalities.

Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.

BackgroundCongenital heart defects (CHD), as the most common congenital anomaly, have been reported to be associated with chromosomal abnormalities. Currently, patients with CHD are routinely offered karyotyping and chromosomal microarray (CMA) testing, but the genotype-phenotype relationship has not yet been fully established.ObjectiveTo determine the type and frequency of chromosomal abnormalities in fetuses with CHD and to analyze pregnancy outcomes of fetuses with heart abnormalities caused by different genetic factors.MethodsA total of 362 cases of CHD were enrolled from 2009 to 2016. Detailed ultrasound and laboratory examinations, including karyotyping and CMA, were performed. Outcome was obtained from discharge summaries.ResultsOf the 362 fetuses, 220 were found with an isolated CHD, and 142 had CHD with extracardiac anomaly. Among these 362 fetuses, 140 were identified with a genetic cause, including 111 cases with aneuploidy, 10 cases with abnormality of chromosomal structure by karyotyping and 19 cases with pathogenic or likely pathogenic copy-number variations (CNVs) by CMA. The detection rate is close to 38.7%. Only one (identified as trisomy 18 syndrome) in 140 positive cases resulted in perinatal death, with the others being induced. The remaining 222 cases had negative results for both genetic testing and of these cases, 56 resulted in induced labor, and 77 had natural childbirth or caesarean births. The pregnancy outcome of the remaining 89 cases was uncertain.ConclusionsKaryotyping and CMA are effective and accurate prenatal genetic techniques for identifying fetal chromosomal abnormalities associated with cardiac defects, and this can assist clinical doctors to perform appropriate genetic counselling with regard to the etiology and outcome of CHD.

The Frequency of Chromosomal Abnormalities in Individuals with Susceptibility to Abortion and/or Infertility by Cytogenetics Method

Background and Aim: Abnormality karyotype of couples can produce susceptibility to infertility or abortion. Therefore, the first step to study these couples should be determining karyotype by cytogenetic method. In this study assay the prevalence of abnormalities chromosomal these couples from western provinces of Iran. Method: A cytogenetic study was performed on 200 individuals (124 women (28.1 ± 5) and 76 males (30.7 ± 5) with infertility and/or abortion with age average 30.81 ± 5 using lymphocyte culture and high-resolution G-banding method. Results: Normal karyotype and various types of chromosomal abnormalities were observed in 138 (69%) and 62 (31%) individuals, respectively. Also, the frequency of translocations, insertions, deletions, inversions and duplications were 40.32% (25), 22.6% (14), 17.74% (11), 9.7% (6) and 9.7% (6) respectively, that the highest frequency was related to changes in transposition or chromosomal displacement with 25 cases (40.3%) In addition, the types of chromosomal abnormalities involving translocations, insertions, deletions, inversions and duplications were detected in 15, 9, 6, 3 and 2 persons, respectively, from 35 patients with RLP and 10, 5, 5, 3 and 4 persons, respectively, of 27 patients with infertility. Conclusion: This issue can also play a role in the planning of pregnant mother’s health.

Inhibitory effect of bee venom against potassium bromate causing genetic toxicity and biochemical alterations in mice

Background/aim Bee venom (BV) therapy is a highly effective treatment, capable of improving one’s health. The present study attempts to assess the effect of BV on the toxicity of oral administration of potassium bromate (KBrO3) which has been widely used in food and cosmetic industries. Materials and methods Sixty adult male mice were gavaged with KBrO3 at two doses (100 and 200 mg/kg body weight) for 10 days. Afterwards, BV at a dose of 120 μg/kg body weight was injected subcutaneously three times per week for two successive weeks. The genetic study was performed using chromosomal aberration and micronucleus formation in the bone marrow, DNA fragmentation in liver cells and by sperm analysis. In addition, serum biochemical markers such as catalase and malondialdehyde, kidney, and liver functions were assessed. Results The results have shown that KBrO3 caused DNA damage that represented the increase in the frequencies of chromosome abnormalities, micronuclei formation, percentage of DNA fragmentation, and sperm morphological abnormalities. Meanwhile, the results showed that KBrO3 exhibited severe toxicity for antioxidant activities for liver and kidney functions. Conversely, BV significantly decreased the frequencies of DNA damage in all aforementioned parameters induced by KBrO3. In addition, it improved the antioxidant activities and the function of the liver and kidneys. Conclusion BV has a potent ameliorating effect against the KBrO3 hazard impacts in animal tissues especially at higher doses. This observation indicated that BV could be a potential therapeutic agent in the treatment of KBrO3 risk.

Chromosomal Abnormalities in 238 Couples with Recurrent Miscarriages in Morocco

Purpose: A proportion of cases with repeated abortion are caused by chromosomal abnormality in one of the parents. The purpose of this study was to assess the frequency and nature of chromosomal aberrations that contribute to the occurrence of recurrent miscarriages. Several studies have been done to determine the role of chromosomal abnormalities in couples with recurrent spontaneous abortion in various countries. None of these studies was done in Morocco. Material and Methods: Cytogenetic study was done for 238 Moroccan couples who presented with repeated abortion at the Institut Pasteur, Casablanca, Morocco. Results: We found that the frequency of chromosomal abnormalities was not significantly different from that reported worldwide. Chromosomal abnormalities were detected in 13 (6.1%) of 238 couples. twelve of chromosomal abnormalities were structural and one of them were numerical. Conclusion: This study highlights the importance of constitutional cytogenetic exploration of couples with a history of repeated spontaneous abortion. Cytogenetic findings could provide valuable information for genetic counseling and allow monitoring of future pregnancies by prenatal diagnosis in couples with a history of recurrent miscarriage.

Cytogenetics and Importance of Genetic Counselling in Recurrent Pregnancy Losses: Experience from Tertiary Care Laboratory

Loss of pregnancy either naturally or by medical termination is a destructive experience to the couple, especially those experiencing recurrent pregnancy losses (RPL). It is important to rule out the genetic aspect as the cause of pregnancy wastages. This retrospective study aimed to determine the frequency of chromosomal abnormalities and its various cytogenetic types in the samples received by Metropolis Healthcare laboratory, Mumbai. This study was conducted on the samples referred for chromosomal karyotyping with a history of Bad Obstetric History (BOH). The couples who had an experience of two or more pregnancy losses were included in this study. Out of the 2102 samples referred, chromosomal abnormality was recorded in 384 (18.27%) cases. Out of chromosomal abnormal cases, 126 (5.99%) patients had reciprocal translocations out of which 27 (21.43%) were Robertsonian translocations. Inversion of chromosome 9 was seen in 81 (21.09%) patients, while inversion Y in 28 (7.29%) patients, and polymorphic variation like increase in length of satellite or heterochromatic region recorded in almost 149 (38.30%) patients. Cytogenetic evaluation of couples with recurrent pregnancy losses (RPL) is very important as after knowing the parental chromosomal pattern appropriate counseling can be offered to know the risk of recurrence, option of prenatal diagnosis and also opens the option of reproduction in some cases. This will also help them to have a cytogenetically healthy baby. Since the cytogenetic abnormalities are usually familial, the close blood relatives may also be benefited once the abnormality is detected.

Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases.

The purpose of this study is to perform a retrospective analysis of types and frequencies of chromosomal abnormalities detected by conventional cytogenetic studies in first-trimester miscarriages after spontaneous conception and IVF. Standard cytogenetic analysis of GTG-banded chromosomes obtained from products of conception (POCs): semi-direct and short-term cultured chorionic villi or long-term cultured fetal mesodermal cells. 50.1% of first-trimester miscarriages in the studied group had chromosomal abnormalities: 59.7% of trisomies, 22% of poliploidies, 7.5% of monosomies, 7% of unbalanced structural abnormalities, and 3.8% of multiple aneuploidies. An increase in the frequency of chromosomally abnormal miscarriages was observed in the group of women above 40 when compared to groups of women under 35 (P<0.05). No difference in frequencies and types of chromosomal abnormalities in POCs of miscarriages after ICSI and spontaneous conception was observed. Approximately, 50% of first-trimester miscarriages have chromosomal abnormalities which can be detected by conventional cytogenetic analysis. The presence of chromosomal abnormality may explain the cause of miscarriage, improving the reproductive counseling and planning.