Multiple Ocular Abnormalities Associated with Trisomy 4p
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Abstract:
<p>Ocular features associated with trisomy 4p have rarely been described. The authors have experienced multiple ocular abnormalities (bilateral cataracts, posterior synechiae, and posterior segment changes) associated with this chromosomal abnormality. It was presumed that these intraocular findings might be associated with the previous inflammatory process. In the current case, the patient recovered some useful vision after surgical removal of cataracts and intraocular lens implantations in both eyes. A detailed ophthalmic examination for patients with the autosomal imbalance is recommended.</p>Keywords:
Abnormality
Trisomy
Chromosomal Abnormality
Objective:To analyze the chromosomal karyotypes of amniotic fluid cells,explore the characteristics of fetal chromosomal abnormality and clinical high risk factors,in order to increase the detection rate of abnormal chromosomal karyotypes.Methods:818 pregnant women of 16～23 gestational weeks were selected,then amniotic cell culture,slice production and G band staining technique were conducted for chromosomal analysis.Results:46 cases with abnormal chromosomal karyotypes were found,including 21 cases with chromosomal number abnormality and 25 cases with chromosomal structural abnormality; the detection rates of chromosomal abnormality in cases with abnormal ultrasound results and one of the couple with chromosomal abnormality were significantly higher than those with 21-trisome and advanced age (P0.05),there was no significant difference in detection rate of chromosomal abnormality between cases with 21-trisome and pregnancy of advanced age (P0.05). Conclusion:It is necessary for the cases with high risk of serological screening and advanced age to receive prenatal diagnosis,and for the cases with abnormal fetuses indicated by ultrasound and one of the couple with chromosomal abnormality,fetal chromosomal abnormality should be concerned.
Abnormality
Chromosomal Abnormality
Amniocentesis
Advanced maternal age
Chromosomal analysis
Chromosome abnormality
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Objective To investigate the relationship between abnormal pregnancy and chromosomal abnormality.Methods Among three hundreds fifty-nine cases,thirty-five cases(9.7%) were chromosomal abnormality,including 5.3 % with habitual abortion,2.2% with abnormal pregnancy and 2.2% with primary infertility.Results Conclusion Chromosome structural abnormality is the important reason of pregnancy and labour,and sex chromosomal abnormality is the important factor resulting in unexplained infertility.
Abnormality
Chromosomal Abnormality
Chromosome abnormality
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Objective To evaluate the correlation between ultrasound detected fetal heart abnormality and chromosomal abnormality.Methods The data of 3307 cases of prenatal fetal echocardiography and karyotype analysis results were retrospectively analyzed.The correlation between heart abnormality and chromsomal abnormality was analyzed.Results In 3307 cases d pregnant women,194cases (5.87％) were found signs of fetal heart abnormality,and 3113 cases (94.13％) were not found any sign of fetal heart abnormality.And 124 cases (3.75％) were found chromosomal abnormality.The rate of chromosomal abnormality in fetus with heart abnormality was higher than that in fetus without heart abnormality [ 19.59％ (38/194) vs.2.76％ ( 86/3113 ),P ＜ 0.01 ],the relative risk ratio was 7.0903.One hundred and twenty-four cases of chromosomal abnormality in the 18-three-body (42 cases) and 21-three-body (36 cases) were the most common.Conclusions Fetal heart abnormality incidence of chromosomal abnormality is high relatively.When the signs of heart abnormality are found,it is suggested that the fetus should examine karyotype analysis.
Key words:
Genetics; Ultrasonography; Fetal heart; Chromosom
Abnormality
Chromosomal Abnormality
Chromosome abnormality
Fetal echocardiography
Fetal heart
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Chromosomal Abnormality
Abnormality
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Objective:To explore the relationship between chromosomal numerical abnormality and spontaneous abortion,analyze the influencing factors of spontaneous abortion. Methods:Fluorescent in situ hybridization technique was used to detect the chromosomal number in chorionic villus of one hundred cases with early spontaneous abortion,then the relationship between chromosomal number and spontaneous abortion was analyzed. Results:Among 100 cases,42 cases were found with chromosomal numerical abnormality,accounting for 42.00%;16 cases were found with chimera,accounting for 16.00%.The most common chromosomal abnormality was triploid,accounting for 35.71%,followed by 45,X and trisomy 16,accounting for 16.67% and 14.29%,respectively.The detection rate of chromosomal abnormality in advanced age group(≥35 years) was 45.46%(10/22),while the detection rate of chromosomal abnormality in non-advanced age group(35 years) was 41.03%(32/78),there was no significant difference(P0.05).The detection rate of chromosomal abnormality in the cases with history of spontaneous abortion was 42.55%(20/47),while the detection rate of chromosomal abnormality in the cases without history of spontaneous abortion was 41.51%(22/53),there was no significant difference(P0.05).The detection rate of chromosomal abnormality in the cases of ≤10 gestational weeks was 45.00%(27/60),while the detection rate of chromosomal abnormality in the cases of10 gestational weeks was 37.50%(15/40),there was no significant difference(P0.05). Conclusion:Chromosomal abnormality is the main cause of early spontaneous abortion,regardless of maternal age,previous history of spontaneous abortion or not,and gestational weeks,the cases with spontaneous abortion at this time may be associated with chromosomal abnormality.Clinicians should pay more attention to chromosomal examination,in order to provide genetic counseling for subsequent pregnancy.
Abnormality
Chromosomal Abnormality
Trisomy
Chromosome abnormality
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Objective:To analyze the ultrasonic manifestations of fetuses with chromosomal abnormality in second trimester of pregnancy,provide some clues for the diagnosis of fetal chromosomal abnormality. Methods:The ultrasonic manifestations of 49 fetuses with chromosomal abnormality in second trimester of pregnancy were analyzed retrospectively. Results:Among 49 fetuses with chromosomal aneuploidy abnormality,72 fetuses were found with abnormal ultrasonic manifestations,30 fetuses were found with abnormal morphology and structure,18 fetuses were found with ultrasonic soft indexes,6 fetuses were combined with abnormal structure,7 fetuses were not found with apparent abnormality. Conclusion:Most of the fetuses with chromosomal aneuploidy abnormality in second trimester of pregnancy have abnormal ultrasonic manifestations,including morphological abnormality and abnormal soft indexes,the phenomenon indicates that the possibility of chromosomal abnormality should be considered and corresponding genetic consultation should be provided when the fetuses are found with abnormal ultrasonic manifestations.
Abnormality
Chromosomal Abnormality
Chromosome abnormality
Second trimester
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Objective:To explore the relationship between nuchal translucency thickness(NT) thickening and fetal chromosomal abnormality.Methods:From February 2009 to January 2012,312 pregnant women with NT thickening who received prenatal examination in the hospital received fetal karyotype analysis.Results:Among 312 pregnant women with NT thickening,14 fetuses were found with chromosomal abnormality,the proportion was 4.49%,and the sensitivity and specificity of NT≥3.0 mm for diagnosis of chromosomal abnormality was 96.45% and 94.45%,respectively.Conclusion:NT thickening has important significance for early screening of chromosomal abnormality,NT≥3.0 mm is an important index for chromosomal screening.
Chromosomal Abnormality
Abnormality
Chromosomal analysis
Chromosome abnormality
Nuchal translucency
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Abnormality
Chromosomal Abnormality
Chromosome abnormality
Chromosomal analysis
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Chromosomal Abnormality
Abnormality
Chromosome abnormality
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