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.

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.

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 Estudo da Prevalência de Anomalias Cromossómicas em Abortamentos Espontâneos ou Mortes Fetais

2014 ◽  
Vol 27 (1) ◽  
pp. 42 ◽  
Author(s):  
Raquel Bastos ◽  
Carla Ramalho ◽  
Sofia Dória
Keyword(s):  
Gestational Age ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Cytogenetic Study ◽  
Accurate Determination ◽  
Normal Karyotype ◽  
First Trimester ◽  
Conventional Technique ◽  
Molecular Cytogenetic Techniques

<strong>Introduction:</strong> Spontaneous abortion is one of the most frequent problems of pregnancy, estimated to affect, at least, one in every four women who tries to conceive. The main purpose of this work was to study the prevalence of chromosomal abnormalities in gestational losses, evaluating their relation with maternal age, gestational age and previous abortion history.<br /><strong>Material and Methods:</strong> Retrospective study of 401 pregnancy loss cases that have gone through cytogenetic and anatomopathologic analysis between January 2008 and June 2012, in Centro Hospitalar de S. João, Oporto.<br /><strong>Results:</strong> Of the 401 cases sent to cytogenetic study, it was possible to obtain information about the chromosomal complement in 333 cases, of which 72.7% showed normal karyotype, and 27.3% abnormal karyotype. Aneuploidies represented 92.3% of the identified chromosomopathies, with trisomies being the most frequent, related with an advanced maternal age and an early gestational age. There was no agreement between the results of the cytogenetic and the anatomopathologic analysis.<br /><strong>Discussion/Conclusion: </strong>The prevalence of chromosomal abnormalities, during the first trimester, is similar between sporadic and recurrent miscarriages. With increased maternal age, trisomies, the most frequent type of aneuploidy, are more likely to occur, with a mean increment in probability of 7.4% per year. A significant karyotype-pathological correlation was not established. Maternal contamination is the main obstacle to the accurate determination of the prevalence of chromosomal abnormalities. The molecular cytogenetic techniques already available can overcome the limitations of the conventional technique.

Cytogenetic analysis and fetal heart activity of spontaneous abortions in the first trimester

2002 ◽  
Vol 78 ◽  
pp. S250
Author(s):  
Kwang Moon Yang ◽  
Jin Hyun Jun ◽  
In Ok Song ◽  
Jin Yeong Kim ◽  
Jong Young Jun ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Fetal Heart ◽  
First Trimester ◽  
Spontaneous Abortions ◽  
Heart Activity

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

Optimization of modern diagnosis of chromosomal abnormalities detected in couples with reproductive dysfunction

2016 ◽  
pp. 42-44
Author(s):  
A.S. Dariy ◽  
◽  
A.A. Stepanov ◽  
S.V. Denisenko ◽  
◽  
...  
Keyword(s):  
Key Words ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Human Reproduction ◽  
Chromosomal Anomalies ◽  
Molecular Cytogenetic ◽  
Genetic Mechanisms ◽  
Balanced Translocations ◽  
Chromosomal Mutations ◽  
Cytogenetic Methods

The objective: To define the percentage of molecular-cytogenetic methods in chromosomal anomalies diagnosis among the couples who had visited Human Reproduction Problems Clinic. To define the algoritm of pregravidate service of couples using the molecular-cytogenetic results. Patients and methods. Сytogenetic analysis was performed for 1812 couples (3624 patients) who visited Human Reproduction Problems Clinic. Molecular-cytogenetic analysis was performed for 426 patients. Results. Molecular-cytogenetic methods were used in 11.75% cases. Mostly (in 78.2% cases) it was used for knowing the correlation between normal and abnormal clones in karyotype. Also it was used for identification of balanced translocations breakpoints (in 15.8% cases) and for identification of marker chromosomes (2.9% cases). Conclusions. Our results demonstrate effectiveness of molecular-cytogenetic methods for genome and chromosomal mutations analysis among couples with reproductive problems. The results were taken in account during pregravidate service of couples with reproductive problems. Knowing of genetic mechanisms of reproductive failure is importing for preconception examination. Key words: infertility, pregravidate service, chromosomal pathology, genome mutations, mosaicism, molecular-cytogenetic methods.

scholarly journals Antenatal detection of chromosomal abnormalities combining QF-PCR and cytogenetic analysis

2020 ◽  
Vol 3 (1) ◽  
pp. 34-43
Author(s):  
Ana Vicic ◽  
Vedrana Skaro ◽  
Petar Projic ◽  
Petra Korac ◽  
Romana Gjergja-Juraski ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Pcr Analysis ◽  
Chorionic Villus Sampling ◽  
Tissue Samples ◽  
Conventional Cytogenetic Analysis ◽  
Diagnostic Values ◽  
Fluorescent Polymerase Chain Reaction

Aim: To compare the diagnostic values and limitations of quantitative fluorescent polymerase chain reaction (QF-PCR) and conventional cytogenetic analysis in prenatal diagnosis of chromosomal abnormalities. Methods: A prospective study included simultaneous QF-PCR and cytogenetic analysis of 133 prenatal samples routinely obtained by amniocentesis or chorionic villus sampling (CVS). Additionally, QF-PCR analysis was performed on 14 tissue samples collected after termination of pregnancy (TOP) for which karyotyping could not be performed due to culture failure. Results: Among 133 analyzed prenatal samples, chromosomal abnormalities were diagnosed in 12 cases (9%), including 10 cases of numerical chromosomal aberrations and two cases with unbalanced structural rearrangements. Nine out of 12 chromosomal abnormalities were also detected with QF-PCR. However, all cases of major aneuploidies were successfully disclosed with QF-PCR, resulting in 100% detection rate for chromosomes 21, 18, 13, X and Y. Using a set of markers specific for chromosomes 21, 18 and 13, QF-PCR analysis of tissues collected after TOP revealed chromosomopathy in 21.4% of cases (two cases of trisomy 18 and one triploidy). A comparison of STR markers confirmed monozygosity in two monochorionic/diamniotic twin pregnancies. Conclusion: QF-PCR has been shown as a rapid and reliable method for prenatal diagnosis of the most common chromosomal aneuploidies, and as an adequate alternative to conventional karyotyping in cases where cytogenetic analysis is not possible due to failure of culturing process. However, conventional cytogenetics still presents a gold standard for the detection of structural aberrations and rare aneuploidies.

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%.

Primary Renal Synovial Sarcoma Confirmed by Cytogenetic Analysis: A Lesion Distinct From Sarcomatoid Renal Cell Carcinoma

2005 ◽  
Vol 129 (2) ◽  
pp. 238-240 ◽  
Author(s):  
Beverley A. Shannon ◽  
Ashleigh Murch ◽  
Ronald J. Cohen
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Synovial Sarcoma ◽  
Renal Cell ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Fusion Transcript ◽  
Chromosomal Anomalies ◽  
Tumor Type ◽  
Sarcomatoid Renal Cell Carcinoma

Abstract Primary synovial sarcoma rarely originates in the renal parenchyma. When this occurs, origin of this unusual tumor type has been the subject of debate in the literature, with a suggestion that previously reported cases may be more correctly described as renal cell carcinoma with sarcomatoid dedifferentiation. Synovial sarcoma and sarcomatoid renal cell carcinoma may be indistinguishable on pure histologic and immunohistochemical grounds, but these tumors contain distinctly different sets of chromosomal abnormalities. Most previous cases of primary renal synovial sarcoma were confirmed by molecular biology techniques, which detected the SYT-SSX gene fusion transcript typical of this tumor, but no details of the other chromosomal anomalies have been published. We report a case of primary renal synovial sarcoma confirmed by standard cytogenetic analysis, showing the characteristic t(X; 18)(p11.2:q11.2) translocation and other chromosomal aberrations that are typical of synovial sarcoma as opposed to sarcomatoid renal cell carcinoma.

Repeated Measurement of Crown-Rump Length at 9 and 11-13 Weeks' Gestation: Association with Adverse Pregnancy Outcome

2015 ◽  
Vol 38 (4) ◽  
pp. 262-268 ◽  
Author(s):  
Masamitsu Nakamura ◽  
Junichi Hasegawa ◽  
Tatsuya Arakaki ◽  
Hiroko Takita ◽  
Shoko Hamada ◽  
...  
Keyword(s):  
Cohort Study ◽  
Fetal Growth ◽  
Gestational Age ◽  
Chromosomal Abnormalities ◽  
Adverse Pregnancy Outcome ◽  
First Trimester ◽  
Trisomy 18 ◽  
Crown Rump Length ◽  
Adverse Pregnancy ◽  
In Pregnancy

Aims: To clarify whether ultrasonographic measurements of crown-rump length (CRL) at 11-13 weeks - based on the number of gestational days determined using the CRL at 9 weeks - can predict fetal prognosis. Methods: A prospective cohort study was conducted to evaluate the association between fetal growth in the first trimester and fetal prognosis. Fetal growth in the first trimester was evaluated measuring CRLs at 11-13 weeks determined using the CRL at 9 weeks. The subjects were divided into short CRL (s-CRL) and normal CRL (n-CRL). The prognoses were compared between the two groups. Results: A total of 126 patients in the s-CRL group and 1,130 patients in the n-CRL group were enrolled. Abortion occurred in 7.1% of s-CRL and 0.9% of n-CRL subjects (p < 0.001). Among the patients with chromosomal abnormalities, the incidence of trisomy 18 was significantly greater in s-CRL (4.8 vs. 0.1%, p < 0.001). Without abortion, placental weight, frequency of small for gestational age (SGA) and birth weight in s-CRL were significantly higher than those in the n-CRL group (12.8 vs. 3.6%, p < 0.001). Conclusions: Measuring CRL at 9 weeks is useful for determining gestational days prior to measuring CRL at 11-13 weeks. After reconfirming the gestational age at 9 weeks, measuring CRL at 11-13 weeks is useful for predicting the incidence of trisomy 18 as well as SGA later in pregnancy.

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