scholarly journals Chromosomal Abnormalities in Couples with Primary and Secondary Infertility: Genetic Counseling for Assisted Reproductive Techniques (ART)

2020 ◽  
Author(s):  
Subhadra Poornima ◽  
Swarnalatha Daram ◽  
Rama Krishna Devaki ◽  
Hasan Qurratulain
Keyword(s):  
Chromosomal Abnormalities ◽  
Genetic Counselor ◽  
Chromosomal Rearrangements ◽  
Assisted Reproductive Techniques ◽  
World Health ◽  
Diagnostic Tools ◽  
Secondary Infertility ◽  
Laboratory Manual ◽  
Reproductive Techniques ◽  
Reproductive Counseling

Background: World Health Organization estimates that 60-80 million couple world-wide currently suffer from infertility. Recurrent pregnancy loss (RPL) is also another major concern. Chromosomal rearrangements play a crucial role in primary and secondary infertility and RPL. Underlying genetic abnormalities like chromosomal abnormalities contribute to 5-10% of the reproductive failures. The aim of the study was to evaluate the chromosomal abnormalities in infertility and RPL cases to help obstetrician/fertility experts to carry out risk assessment and provide appropriate assisted reproductive techniques for better management of the problem. Methods: Karyotyping was performed for 414 cases with the history of infertility and RPL over a period of one year. Samples were processed according to procedures of AGT cytogenetic laboratory manual. Results: Chromosomal abnormalities were observed in 15% of cases. Robertsonian translocation, reciprocal translocation, inversion, derivatives, marker chromosomes, mosaics, aneuploidy and polymorphic variants each contributed 2%, 3%, 3%, 13%, 2%, 10%, 6% and 61%, respectively. Conclusion: Evaluation of chromosomal abnormalities in couple is warranted prior to planning pregnancy especially for assisted reproductive management cases. Chro-mosomal analysis can be used as one of the diagnostic tools by OBG/IVF specialists in association with geneticist/genetic counselor for proper reproductive counseling and management.    

scholarly journals Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques

2005 ◽  
Vol 20 (2) ◽  
pp. 437-442 ◽  
Author(s):  
E. Clementini ◽  
C. Palka ◽  
I. Iezzi ◽  
L. Stuppia ◽  
P. Guanciali-Franchi ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Assisted Reproductive Techniques ◽  
Reproductive Techniques ◽  
Infertile Couples

Chromosomal Abnormalities in a Male Partner Who was a Candidate for Assisted Reproductive Techniques

2010 ◽  
Vol 7 (3) ◽  
pp. 211-213
Author(s):  
K Iravathy Goud ◽  
S Dayakar ◽  
SJ Babu ◽  
K Vijaya Lakshmi
Keyword(s):  
Chromosomal Abnormalities ◽  
Male Partner ◽  
Assisted Reproductive Techniques ◽  
Reproductive Techniques

scholarly journals Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple

2017 ◽  
Vol 8 (1) ◽  
pp. 36-40
Keyword(s):  
Spontaneous Abortion ◽  
Robertsonian Translocation ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
Genetic Evaluation ◽  
Fish Analysis ◽  
Translocation Carrier ◽  
Laboratory Manual ◽  
Reproductive Risk ◽  
Normal Offspring

ABSTRACT Purpose Spontaneous abortion has been reported in 15 to 20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation (RT) is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. Robertsonian translocation carriers, especially 21-14, are the most common balanced rearrangement among the carrier couples with a history of spontaneous abortion. Materials and methods Cytogenetic analysis was carried out based on phytohemagglutinin-stimulated peripheral blood lymphocyte cultures and without phytohemagglutinin-stimulated amniocyte culture. Lymphocyte and amniocyte culturing and GTG banding were performed following standard protocols as described by the Association of genetic technologists (AGT) Cytogenetics Laboratory Manual. Results Cytogenetic evaluation of both the partners and the child revealed that the child had translocated Down's syndrome and the mother was a carrier of balanced RT of 14q;21q. Amniocentesis of the next pregnancy and detection of chromosomal abnormality in the fetus was done by fluorescence in situ hybridization (FISH) analysis of the amniotic cells with 13,18,21,X,Y probe mix found normal chromosomal constituent in the fetus. Conclusion The present study shows that genetic counseling, cytogenetic evaluation, prenatal diagnosis by amniocentesis, and FISH together help couples with nonhomologous RT and history with syndromic child and repeated abortions to get normal offspring. How to cite this article De P, Chakravarty S, Chakravarty A. Pre- and Postnatal Genetic Evaluation reduce the Reproductive Risk of nonhomologous Robertsonian Translocation Carrier Couple. Int J Infertil Fetal Med 2017;8(1):36-40.

Pregnancy Success Rates by Different Assisted Reproductive Techniques in Tubal, Ovarian, and Sperm Disorders

2020 ◽  
Vol 6 (3) ◽  
pp. 187-192
Author(s):  
Zeinab Hajaliakbari Hafezabad ◽  
◽  
Milad Ahmadi Gohari ◽  
Faezeh Kashi ◽  
◽  
...  
Keyword(s):  
Pregnancy Rate ◽  
Fertility Rate ◽  
Assisted Reproductive Techniques ◽  
World Health ◽  
Success Rates ◽  
Tubal Infertility ◽  
Vitro Fertilization ◽  
Significant Difference ◽  
Reproductive Techniques

Background: Assisted Reproductive Techniques (ART) have been used for addressing numerous causes of infertility. However, it remains unclear which kind of these methods are best for various infertility types. Accordingly, this study aimed at determining pregnancy success rates by different ART in tubal, ovarian, and sperm disorders. Methods: The present descriptive retrospective study used the records of individuals who had referred to the Infertility Center of Kerman University of Medical Sciences from March 2016 to December 2017. All subjects underwent Intracytoplasmic Sperm Injection (ICSI) and In Vitro Fertilization (IVF). The sperm parameters were assessed based on the criteria of the World Health Organization (WHO) for determining the causes of male infertility. The data were documented and compared with the criteria of the WHO. Then, they were analyzed by analysis of variance, Paired Samples t-test, Chi-squared, or Fisher’s Exact tests using SPSS. Results: The overall Mean±SD fertility rate in IVF and ICSI was 4.28±2.87 and 3.62±2.54, respectively and the difference was not significant (t=1.02, P=0.319). There was a significant difference in the fertility rate due to tubal infertility (P=0.018) between ICSI and IVF; the fertility rate in the IVF method was significantly higher than that of the ICSI. The pregnancy rate in the freeze method was higher than those of the other methods (P<0.001). This discrepancy was also found in all causes of infertility. There was no significant difference in the disorders of sperm and the result of two methods (IVF/ICSI). Conclusion: The obtained results suggested that in the freeze method, the pregnancy rate was higher than other approaches; this discrepancy was found in all the causes of infertility. It is suggested that frozen-thawed embryo transfer be used in infertile individuals. This is because it increases the success rate of pregnancy and prevents complications due to the repeated use of infertility treatments and exorbitant treatment costs.

Recent developments and opportunities in fighting COVID-19

Coronaviruses ◽  
2020 ◽  
Vol 01 ◽  
Author(s):  
Vikram Rao ◽  
Subrat Kumar Bhattamisra
Keyword(s):  
World Health ◽  
Diagnostic Tools ◽  
Extensive Literature ◽  
Angiotensin Converting Enzyme 2 ◽  
Recent Developments ◽  
Therapeutic Molecules ◽  
Discharged Patients ◽  
Extensive Literature Search ◽  
Repurposed Drugs ◽  
Health Organization

Background: COVID-19, a Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-Cov-2) was first diagnosed in the patients from Wuhan, China in December 2019. Within couple of months of infection, it was declared as pandemic by World health organization. COVID-19 has become the most contagious infection with a serious threat to global health. In this review, we aimed to discuss the pathogenesis, diagnostics, current treatments and potential vaccines for COVID-19. Methods: An extensive literature search was conducted using keywords “COVID-19”; “Coronavirus”; “SARS-Cov-2”; “SARS” in public domains of Google, Google scholar, PubMed, and ScienceDirect. Selected articles were used to construct this review. Results: SARS-Cov-2 uses the Spike (S) protein on its surface to recognize the receptor on angiotensin-converting enzyme 2 (ACE2) and bind with 10-folds greater affinity than SARS-Cov-1. Molecular assays and immunoassays are the most frequently used tests whereas computed tomography (CT) scans, Artificial intelligence enabled diagnostic tools were also used in patients. In therapeutic treatment, few drugs were repurposed and there are 23 therapeutic molecules including the repurposed drugs are in different stages of clinical trial. Similarly, development of vaccines is also in the pipeline. Few countries have managed well to contain the spread by rapid testing and identifying the clusters. Conclusion: Till now, the acute complications and mortality of COVID-19 has been linked to the pre-existing comorbid conditions or age. Besides the development of therapeutic strategies that includes drugs and vaccine, the long term implication of COVID-19 infection in terms of the disorder/disability in the cured/discharged patients is a new area to investigate.

scholarly journals Morphological Characteristics, Classifications and Difficulties in the Use of Diagnostic Criteria for Serrated Lesions of the Large Intestine

2021 ◽  
Author(s):  
Cesar de Souza Bastos Junior ◽  
Vera Lucia Nunes Pannain ◽  
Adriana Caroli-Bottino
Keyword(s):  
Diagnostic Criteria ◽  
Morphological Characteristics ◽  
World Health ◽  
Diagnostic Tools ◽  
Serrated Adenoma ◽  
The Past ◽  
The World ◽  
Serrated Lesions ◽  
Health Organization

Abstract Introduction Colorectal carcinoma (CRC) is the most common gastrointestinal neoplasm in the world, accounting for 15% of cancer-related deaths. This condition is related to different molecular pathways, among them the recently described serrated pathway, whose characteristic entities, serrated lesions, have undergone important changes in their names and diagnostic criteria in the past thirty years. The multiplicity of denominations and criteria over the last years may be responsible for the low interobserver concordance (IOC) described in the literature. Objectives The present study aims to describe the evolution in classification of serrated lesions, based on the last three publications of the World Health Organization (WHO) and the reproducibility of these criteria by pathologists, based on the evaluation of the IOC. Methods A search was conducted in the PubMed, ResearchGate and Portal Capes databases, with the following terms: sessile serrated lesion; serrated lesions; serrated adenoma; interobserver concordance; and reproducibility. Articles published since 1990 were researched. Results and Discussion The classification of serrated lesions in the past thirty years showed different denominations and diagnostic criteria. The reproducibility and IOC of these criteria in the literature, based on the kappa coefficient, varied in most studies, from very poor to moderate. Conclusions Interobserver concordance and the reproducibility of microscopic criteria may represent a limitation for the diagnosis and appropriate management of these lesions. It is necessary to investigate diagnostic tools to improve the performance of the pathologist's evaluation, for better concordance, and, consequently, adequate diagnosis and treatment.

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