scholarly journals Chromosomal abnormalities in recurrent spontaneous abortions: A retrospective study

2020 ◽  
Author(s):  
Inusha Panigrahi ◽  
Mohd. Shariq ◽  
Ravi Thakur ◽  
Subhas Saha ◽  
Gurjit Kaur
Keyword(s):  
Chromosomal Rearrangement ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
First Trimester ◽  
Median Number ◽  
Chromosomal Anomalies ◽  
Spontaneous Abortions ◽  
Reciprocal Translocations ◽  
Recurrent Spontaneous Abortions ◽  
Complex Chromosomal Rearrangement

Purpose: Evaluation of recurrent spontaneous abortions (RSA) can be challenging for a Obstetrician. In case of early first trimester abortions, chromosomal abnormalities can be identified as an important cause. We analysed the RSA cases followed up and diagnosed in the Genetic Clinic or Genetic Lab of 2 hospitals in the region. Methods: Those couples with 3 or more spontaneous abortions were included in the analysis. Karyotyping was one using standard protocol with G-banding and reporting as per ISCN guidelines. Results: Of 97 RSA couples, 20 showed chromosomal abnormalities, and 15 of these had balanced chromosomal rearrangements. The age ranged from 22 years to 37 years, and the median number of abortions was 4. Complex chromosomal rearrangement was seen in 2 couples, in one partner. The spectrum of chromosomal anomalies in couples with RSA is discussed here. Conclusions: Frequency of chromosomal abnormalities in RSA was higher in present study compared to previous studies. Reciprocal translocations were commonest abnormality.

scholarly journals Cytogenetic Study of Spontaneous Abortions in the Western part of Romania

2019 ◽  
Vol 70 (3) ◽  
pp. 1000-1004
Author(s):  
Simona Farcas ◽  
Nicoleta Andreescu ◽  
Daniela Amzar ◽  
Lavinia Stelea ◽  
Alexandra Mihailescu ◽  
...  
Keyword(s):  
Gestational Age ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Psychiatric Symptoms ◽  
Cytogenetic Study ◽  
Age Distribution ◽  
First Trimester ◽  
Chromosomal Anomalies ◽  
Spontaneous Abortions ◽  
Tissue Samples

Regarding the rate of chromosomal abnormalities in spontaneous abortions, the data varies between 50 and 80% for first trimester miscarriages but there are several factors that may influence the rate of chromosomal aberrations as the selection bias of the cases for which cytogenetic analysis is done, the gestational age distribution, the maternal age distribution, the tissue samples analyzed, the expertise in cytogenetic methods. The aim of the research is to establish the incidence of chromosomal aberration in our study lot for the patients from the Western part of Romania, as there are no studies available for this specific population. In the present study, patients were included with pregnancy loss between 4 to 14 weeks of gestation for whom cytogenetic evaluation of the fetus was done in the University of Medicine and Pharmacy Timisoara. Of all results, 48.57% (34 out of 70) aborted fetuses had an abnormal karyotype. The gestational age of the aborted fetuses varied between 5 and 14 weeks of gestation, with a mean of 8.95 weeks of gestation. A higher incidence of chromosomal anomalies was observed in the group including patients � 35 years as compared with the group patients aged under 35 years old (55.5% vs 45.5%). The results of cytogenetic analysis of first trimester miscarriage is an important tool that can enhance diagnostic evaluation, and represent a critical information for counselling infertile couples. Post-miscarriage genetic and psychological counselling and appropriate treatment are crucial for the prevention of high psychological distress, psychiatric symptoms and psychopathology in these patients.

Analysis of chromosome segregation in reciprocal translocation carriers

2020 ◽  
pp. 16-18
Author(s):  
З.Н. Тонян ◽  
И.Л. Пуппо ◽  
А.Ф. Сайфитдинова ◽  
Ю.А. Логинова ◽  
О. Г. Чиряева ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Chromosome Segregation ◽  
Birth Defects ◽  
Reciprocal Translocation ◽  
Spontaneous Abortions ◽  
Meiotic Segregation ◽  
Cleavage Stage ◽  
Reciprocal Translocations ◽  
Recurrent Spontaneous Abortions ◽  
Increased Risk

Аутосомные реципрокные транслокации (АРТ) приводят к повышенному риску образования несбалансированных гамет вследствие патологической сегрегации хромосом в мейозе у носителей. В настоящей статье приведены результаты анализа типов сегрегации для 26 АРТ, а также определены теоретически возможные варианты сегрегации хромосом. В 73% случаев у носителей АРТ в более, чем 50% бластомеров наблюдалось совпадение теоретического и детектируемого типов сегрегации. Полученные данные можно использовать для оптимизации персонализированного медико-генетического консультирования семей, где один из супругов является носителем АРТ, и имеющих репродуктивные проблемы, высокий риск неразвивающейся беременности и/или рождения ребенка с хромосомной патологией. Autosomal reciprocal translocations (ART) lead to an increased risk of imbalanced gametes formation due to pathological meiotic segregation. Segregation type was analyzed and theoretical segregation pattern was determined in 26 cleavage stage embryos in this article. A coincidence of theoretical and detectable segregation types was observed in more than 50 % of blastomeres in 73 % of cases. The data obtained may be used for personalized genetic counseling in families with high risks of recurrent spontaneous abortions, infertility or children with birth defects due to ART.

Laparoscopic metroplasty for bicornuate uterus – A case report

2021 ◽  
Vol 8 (2) ◽  
pp. 279-281
Author(s):  
Lakshmi Subburaj ◽  
K Rajkumar
Keyword(s):  
Case Report ◽  
First Trimester ◽  
Mullerian Duct ◽  
Spontaneous Abortions ◽  
Bicornuate Uterus ◽  
Müllerian Duct ◽  
Recurrent Spontaneous Abortions ◽  
Fertility Status ◽  
Müllerian Duct Anomalies ◽  
Müllerian Duct Anomaly

Bicornuate uterus is a type of mullerian duct anomaly which is responsible for recurrent spontaneous first trimester abortions. They are best managed surgically using Strassman’s metroplasty. We present a case of recurrent spontaneous abortions which was diagnosed as bicornuate uterus. We performed a laparoscopic metroplasty which was successful and did not encounter complications like adhesions or hemorrhage. The advantages of laparoscopic metroplasty outweighs the challenges in restoring fertility status to women with mullerian duct anomalies.

scholarly journals Chromosomal anomalies in early spontaneous abortions: interphase FISH analysis on 855 FFPE first trimester abortions

2016 ◽  
Vol 36 (2) ◽  
pp. 186-191 ◽  
Author(s):  
Rosa Russo ◽  
Anna Maria Sessa ◽  
Rosalba Fumo ◽  
Sara Gaeta
Keyword(s):  
First Trimester ◽  
Chromosomal Anomalies ◽  
Fish Analysis ◽  
Spontaneous Abortions ◽  
Interphase Fish

scholarly journals Ultrasound Markers of Chromosomal Anomalies in the First Trimester

2010 ◽  
Vol 4 (4) ◽  
pp. 419-425
Author(s):  
Ashok Khurana
Keyword(s):  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
False Positive Rate ◽  
Diagnostic Testing ◽  
Nasal Bone ◽  
First Trimester ◽  
Ductus Venosus ◽  
Chromosomal Anomalies ◽  
Chromosomal Disorders ◽  
Crown Rump Length

ABSTRACT Chromosomal anomalies are associated with considerable morbidity and mortality. The protocol for identifying these fetuses had for many years included a single clinical criterion of maternal age. Advances in biochemical screening combined with the excellent display of fetal dysmorphology afforded by technological advances in ultrasound equipment have resulted in a paradigm shift in the diagnosis of chromosomal abnormalities in the fetus, from the second trimester to the late first trimester. The accuracy of diagnosis as reported in multiple large series has pushed both screening and diagnostic testing for chromosomal disorders to the window now referred to as the 11 to 13 weeks + 6 days scan. Recent data have shown chorion villus sampling after 10 weeks to be as safe in experienced hands as amniocentesis and this has pushed the advantages of first trimester screening further. Ultrasound parameters for the detection of Down's syndrome in the first trimester include the nuchal translucency (NT) as the most well-defined and studied parameter, evaluation of the nasal bone (NB), frontomaxillary facial (FMF) angle, ductus venosus (DV) flow velocity waveform, tricuspid regurgitation (TR) and fetal heart-rate. Each parameter has well-defined criteria to be fulfilled for accurate quantification. Biochemical parameters that are currently in wide use include PAPP-A and free beta-hCG. Other parameters that the software accounts for are the gestational age assessed by the crown-rump length, maternal age, ethnicity, smoking, IVF and number of fetuses with chorionicity. Combining maternal age, biochemistry, NT and NB between 11 to 13 weeks + 6 days yields a detection rate of 96% with a false positive rate of 5%.

scholarly journals A Cytogenetic Study of Chromosomal Abnormalities in first trimester abortions in different maternal age groups

2017 ◽  
Vol 06 (03) ◽  
pp. 179-183
Author(s):  
Shahin Kazi ◽  
Harsha A. Keche ◽  
Keyword(s):  
Cytogenetic Analysis ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Cytogenetic Study ◽  
Age Groups ◽  
First Trimester ◽  
Standard Protocol ◽  
Spontaneous Abortions ◽  
Chromosomal Disorders ◽  
First Trimester Of Pregnancy

Abstract Background : Approximately 15% of all clinically recognized pregnancies end in spontaneous abortions. Chromosomal disorders are responsible for 50% of the spontaneous abortions. Most commonly it occurs in the first trimester of pregnancy. Aim : To study the cytogenetic analysis of chorion villous tissue in 50 cases of abortion in age groups of 19-40 years. Material and Methods : Cytogenetic analysis was performed by implementing standard protocol of planting, harvesting, banding and screening. The karyotypes were prepared and observed under microscope. Statistical analysis was done by calculating the percentage of abnormal abortions in relation to maternal age. Results : It was observed that maximum abortion took place between 25-34 years of maternal age. The rate of abortion with trisomy was maximum followed by polyploidy and monosomy. It was seen that rate of abortion with monosomy decreases with increase in maternal age. Contrary to this trisomy increased with increase in maternal age. Conclusion : Cytogenetic study revealed that the rate of trisomie abortions increased with the increase in maternal age.

Complex chromosomal rearrangement and multiple spontaneous abortions

1986 ◽  
Vol 74 (3) ◽  
Author(s):  
J.L. Gorski ◽  
B.S. Emanuel ◽  
E.H. Zackai ◽  
M. Mennuti
Keyword(s):  
Chromosomal Rearrangement ◽  
Spontaneous Abortions ◽  
Complex Chromosomal Rearrangement
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