Dr. Ashish fauzdar - Academia.edu (original) (raw)

Papers by Dr. Ashish fauzdar

Research paper thumbnail of Serum inhibin B and follicle-stimulating hormone levels as markers in the evaluation of azoospermic men: a comparison

Andrologia, Oct 1, 2005

ABSTRACT Inhibin B is a glycoprotein hormone produced mainly by Sertoli cells of the testes in th... more ABSTRACT Inhibin B is a glycoprotein hormone produced mainly by Sertoli cells of the testes in the adult male. It selectively suppresses the secretion of pituitary follicle-stimulating hormone (FSH) and has local paracrine actions in the testes. Its measurement is useful for investigating the role of inhibin B in male gonadal dysfunction. The objective of this study was to investigate the efficacy of serum inhibin B in men with nonobstructive azoospermia in comparison with FSH. Serum concentration of FSH was measured using microparticle enzyme immunoassay, inhibin B by specific solid phase sandwich enzyme-linked immunosorbent assay in men with nonobstructive azoospermia (n = 46) and control fertile men (n = 5). Mean inhibin B and FSH level was 104.6 pg ml(-1) and 4.0 mIU ml(-1) in control men whereas the value for nonobstructive azoospermic men was 17.06 pg ml(-1) and 31.1 mIU ml(-1) respectively. Inhibin B and FSH levels were significantly different in azoospermia than controls (P < 0.0001). There were six cases of nonobstructive azoospermia with normal inhibin B. Testicular histology did not find any evidence of spermatogenesis in three cases with normal inhibin B. This demonstrated that inhibin B was not a superior predictor for testicular function in our study.

Research paper thumbnail of A preliminary study on chromosome aneuploidy & mosaicism in early pre-implantation human embryo by fluorescence in situ hybridization

The Indian journal of medical research, 2008

Chromosome aneuploidy plays an important role in infertility, early pregnancy wastage and perinat... more Chromosome aneuploidy plays an important role in infertility, early pregnancy wastage and perinatal mortality. Cytogenetic & fluorescent in situ hybridization (FISH) studies on developmentally arrested and morphologically poor embryo have shown high frequency of chromosomal abnormality and mosaicism. In this study, we attempted to evaluate chromosome aneuploidy and mosaicism on human embryos through the use of FISH. Sixty one grade IV un-transferable embryos were obtained from 25 patients undergoing in vitro fertilization (IVF). Forty six embryos were studied by FISH; 15 were lost during transport and handling. FISH probes (non-commercial) for centromeres of chromosome X, Y, 1 and 18 were used for the study. Zona of embryos were dissolved in 0.01N HCl containing 0.1 per cent Tween 20 for 2-3 min. Interpretable FISH results were obtained in 24 embryos. Nineteen embryos (79.2%) were disomic (normal) for chromosome X/Y or 1/18 and five (20.8%) were abnormal. Among five abnormal embryos...

Research paper thumbnail of Effectiveness of Using IVD Certified Platform for Monitoring Minimal Residual Disease in Chronic Myelogenous Leukemia Patient

Apollo Medicine, 2008

The appropriate management of hematological disorders must rely on a precise and long-term monito... more The appropriate management of hematological disorders must rely on a precise and long-term monitoring of the patient's response to chemotherapy and radiotherapy. The presence of residual malignant cells among normal cells is termed minimal residual disease (MRD). Nowadays a great progress has been made in the treatment of malignant diseases and in the development of reliable molecular techniques, which are characterized by high sensitivity and ability to distinguish between normal and malignant cells at diagnosis and during follow-up. Especially, MRD data based on quantitative analysis (RQ-PCR) appear to be crucial for appropriate evaluation of treatment response in CML. Implementation of standardized approaches for MRD assessment into routine molecular diagnostics available in Immunology & Molecular Biology Lab at Indraprastha Apollo Hospital, New Delhi should be regarded nowadays a crucial point in further MRD study.

Research paper thumbnail of High prevalence of D/G group acrocentric RPL chromosome polymorphisms in 1400 recurrent pregnancy losses patients, an evaluation of genetic factor and reassessing CPMs in 21 st century as normal variants

High prevalence of D/G group acrocentric RPL chromosome polymorphisms in 1400 recurrent pregnancy losses patients,, 2024

Background: The current burden for recurrent pregnancy losses in India is quite high and is aroun... more Background: The current burden for recurrent pregnancy losses in India is quite high and is around 7.4% and majority of them with no definitive cause for pregnancy loss even after complete RPL workup. The objective of the study was to investigate the prevalence and possible association of chromosome polymorphisms with recurrent pregnancy loss patients. Methods: A single centre case-control retrospective study on RPL patients undergoing conventional cytogenetics culture techniques to rule out chromosome abnormalities. Results: The prevalence of chromosome polymorphism in the study was 33.7% (471/1400) high in comparison to previous studies. The acro ps+/-polymorphisms involving D/G group of chromosomes was significantly higher in the study group observed in 23.5% (330/1400) patients and 15.8% (58/366) in the control group p <0.005. The prevalence of 22ps+ subtype polymorphism was significantly higher in the patient groups with the odd ratio OR (95% CI)-2.35 (1.245-4.434). Conclusions: This study substantiates the very high prevalence of CPMs and therefore should be interpreted cautiously till further strong evidence are available, until then patient should be counselled on case-to case basis. In future CPMs may play a crucial role in prognosis and management in unexplained RPL group with no other definitive cause identified after RPL workup as per recommendations from international and national guidelines.

Research paper thumbnail of Impact of Vitamin D Supplementation on Semen Quality in Vitamin D-Deficient Infertile Males with Oligoasthenozoospermia

The Journal of Obstetrics and Gynecology of India, 2019

Introduction Male factor contributes to almost 50% cases of infertility. There is evidence of the... more Introduction Male factor contributes to almost 50% cases of infertility. There is evidence of the effect of serum vitamin D on male fertility by helping in spermatozoa maturation and initiating acrosomal reaction. In India, vitamin D deficiency has been documented to be in the range of 50-90% among all the age groups. Objective To study the levels of vitamin D and the impact of vitamin D supplementation in vitamin D-insufficient/deficient infertile males with oligoasthenozoospermia. Material and methods This study is a longitudinal observation study. Infertile men with either oligozoospermia or asthenozoospermia with vitamin D levels < 30 ng/ml were enrolled. Vitamin D and calcium supplementation was given, and semen and hormone parameters were assessed at the end of 3 and 6 months. Result There is significant improvement in the mean sperm concentration and progressive sperm motility in infertile males with oligoasthenozoospermia after 6 months of vitamin D supplementation (p value < 0.001). The overall clinical pregnancy rate in the study was 8.33% after vitamin D supplementation (p value 0.24). Conclusion Vitamin D supplementation plays a crucial role in regulating male fertility.

Research paper thumbnail of Association of occupational exposure on semen density in male industrial workers undergoing infertility treatment at tertiary care hospital

International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2019

Background: Working with particular substances or under certain working situations may cause some... more Background: Working with particular substances or under certain working situations may cause some workers to experience abnormalities in their sexual or reproductive health. Occupational exposures can lead to infertility, but the workers may not be aware of such problems. The purpose of the study was to determine the association between male infertility and occupation of industrial workers in organized sector.Methods: Prospective case-controlled study that included 136 industrial workers working in organized sector and attending infertility clinic for treatment. This study included male partners aged between 21-46 years with primary or secondary infertility and undertaking same occupation for at least last three months. Complete infertility workup of all male partners attending infertility clinic was done that included detailed history and information related to occupation. Routine semen parameters were evaluated according to the 2010 World Health Organization (WHO) criteria.Results...

Research paper thumbnail of An intrauterine insemination audit at tertiary care hospital: A 4½ years' retrospective analysis of 800 intrauterine insemination cycles

Journal of Human Reproductive Sciences, 2018

Background: There are many variables that may influence the success rates of intrauterine insemin... more Background: There are many variables that may influence the success rates of intrauterine insemination (IUI) treatment. Therefore, a regular audit program is needed for planning effective infertility treatment and improving pregnancy outcomes. Aims and Objectives: The main objective of this study was to identify the crucial predicting factors that can influence the IUI success. Materials and Methods: A retrospective analysis of 800 IUI cycles done from January, 2013 to August, 2017 in 651 couples with various etiologies of infertility. The common etiologies included female factor of ovulatory dysfunction, tubal, endocrinal, male factor, male and female factors combined, and unexplained factors. Ovulation induction was done either by clomiphene citrate (CC) alone or in combination of CC with gonadotropins or pure gonadotropins only. Human chorionic gonadotropin trigger was given when at least one dominant follicle measuring ≥18 mm with an endometrial thickness of >7 mm was obtained. IUI was done post 36 h of trigger. The double-density gradient method was the preferred method of sperm preparation. Results: In 800 cycles in corresponding 651 couples, the total outcome was 113 pregnancies (14.1%) per cycle with overall pregnancy rate (PR) per couple of 17.3%. The highest PR was observed in the patient with ovulatory dysfunction (21.2%), followed by patients with combined factor (15.1%) and male factor (14.7%). In the study, a higher PR was achieved in the female ≤25 years (18.9%) P < 0.04 with significant findings with duration of infertility ≤5 years (15.1%) having primary infertility (14.5%) with low body mass index <25 (14.1%). IUI success rate was highest in the first cycle (14.6%) followed by second cycle (14.0%) and third cycle (3.5%). Conclusion: IUI audit enables the characterization of prognostic factors to achieve improved PR. This study identifies the factors that can predict improved pregnancy outcome in women age ≤25 years and endometrium thickness between 9 and 11 mm. We also recommend IUI as a first line of infertility treatment for couples in low-income setting provided the women age and duration of infertility are acceptably low.

Research paper thumbnail of Chromosome aneuploidy and mosaicism in preimplantation embryos

Research paper thumbnail of Chapter-45 Y Chromosome and Its Role in Male Infertility

Manual of Assisted Reproductive Technologies and Clinical Embryology, 2012

Research paper thumbnail of Potential Use Of Blood, Buccal And Urine Cells For Rapid Noninvasive Diagnosis Of Suspected Aneuploidy Using Fluorescence In Situ Hybridization (FISH)

Objective: The objective of the study was to determine whether noninvasive and readily available ... more Objective: The objective of the study was to determine whether noninvasive and readily available cells could be used for rapid diagnosis of specific chromosomal abnormality to facilitate management of patients in acute/specialized situation. Methods: In the present study we analyzed blood, buccal & urine cells from 3 patients with pure trisomy 21 with locus specific FISH probes for chromosome 21. Three normal subjects were included for comparison. The clinical cases were confirmed with conventional cytogenetic studies of peripheral lymphocytes before inclusion in the study. Result: Average frequencies for 1, 2 and 3 hybridization signals were 2.2%, 6% and 91% for blood cells, 2.5%, 7% and 89.8% for buccal cells and 2%, 9.3% and 87.4% for urine cells, respectively in the cases. False trisomic cells were less than 1% in all type of cells in controls. False monosomic cells were 3.6%, 4.5% & 9.8% for blood, buccal & urine cells in controls which was quite similar to alphoid FISH probes ...

Research paper thumbnail of Assisted Conception Techniques: Which One to Choose

The Diagnosis and Treatment of Male Infertility, 2017

Research paper thumbnail of Carcinoma

preliminary investigation of genomic screening in cervical

Research paper thumbnail of Key words: CATCH22 Syndrome, 22q11.2 Deletion

We report an eight years female child with clinical and molecular cytogenetic findings consistent... more We report an eight years female child with clinical and molecular cytogenetic findings consistent with CATCH22 syndrome characterized by cardiac defect, typical facial dysmorphism, mental deficiency and chromosome 22q11.2 deletion. Interphase FISH with 22q11.2 probe demonstrated hemizygous deletion in 98.5 % nuclei. Interphase FISH for diagnosis of CATCH22 syndrome has not been reported previously from India to our knowledge.

Research paper thumbnail of A comparative study of semen parameters of men undergoing fertility treatment from urban population residing in Delhi/NCR region and semi-urban population from adjoining states

Objective: To analyze the difference in semen parameters of men from urban areas of Delhi/NCR wit... more Objective: To analyze the difference in semen parameters of men from urban areas of Delhi/NCR with those residing outside Delhi region. Material and Methods: A retrospective cross-sectional study was undertaken at tertiary level center located in New Delhi region between the period of August 2019 to January 2020. A total of 657 men undergoing fertility workup during their infertility treatment were included in the study with 521 (79.2%) men from Delhi/NCR region (urban) and another 136 (20.7%) men from outside Delhi region (semi-urban) with mean age of both the group was 35.6 ± 5.7 years. Results and Discussion: It was observed in both the groups that there was no statistical difference noted in mean ± SD of in semen volume (1.79 ± 0.84 vs 1.78 ± 0.83), sperm concentration (49.9 ±32.4 vs 49.8 ± 32.4), total motility (58 ± 22.5 vs 58.1 ± 22.5), progressive motility (32.3 ±13.8 vs 32.2 ± 13.8) P = 0.95 and sperm morphology (2.3 ± 2.2 vs 2.3 ± 2.2). The prevalence of male factor subfer...

Research paper thumbnail of Short ejaculatory abstinence in normozoospermic men is associated with higher clinical pregnancy rates in sub-fertile couples undergoing intra-cytoplasmic sperm injection in assisted reproductive technology: A retrospective analysis of 1691 cycles

Journal of Human Reproductive Sciences, 2021

Background: The current WHO abstinence recommendations are ideal only for clinical diagnosis, as ... more Background: The current WHO abstinence recommendations are ideal only for clinical diagnosis, as in recent years a negative correlation of abstinence duration with good embryo development and clinical pregnancy rate has been seen. Aim: The aim of the study was to evaluate the impact of variation in abstinence period on fertilization, embryo development potential, pregnancy, and miscarriage rate in sub-fertile couples undergoing assisted reproductive technology (ART) treatment. Setting and Design: A prospective analysis was conducted at a tertiary (level 3) infertility care clinic. Materials and Methods: The study included analysis of 1691 cycles for the patient undergoing ART procedures between September 2017 and August 2019. The influence of ejaculatory abstinence (EA) was investigated based on variation in abstinence length with four groups: Group I – 1 day; Group II – 2–5 days; Group III – 6–7 days; and Group IV – EA length of ≥8 days. Statistical Analysis: Analysis of variance and Chi-square test were used to calculate P value. Results: In our primary outcome, we have seen a strong positive correlation of abstinence duration with semen volume, total sperm count, total motile count, and difference between each group was significant. Secondary outcomes showed a significantly higher implantation rate, biochemical pregnancy rate was observed in Group I (1 day) per embryo transfer as compared to longer abstinence groups. This resulted in significantly higher clinical pregnancy rates in Group I 30.0% vs. 25.4% in comparison to longer abstinence groups. Conclusions: Our study has shown duration of abstinence is negatively correlated with positive β-human chorionic gonadotropin rate, clinical pregnancy rate, and implantation rate. Lower miscarriage rate was also observed with shorter abstinence duration.

Research paper thumbnail of A Preliminary Experience of Integration of an Electronic Witness System, its Validation, Efficacy on Lab Performance, and Staff Satisfaction Assessment in a Busy Indian in vitro Fertilization Laboratory

Journal of Human Reproductive Sciences, 2020

Background: Electronic witness system (EWS) is one of the recent advancements in the field of in ... more Background: Electronic witness system (EWS) is one of the recent advancements in the field of in vitro fertilization (IVF) that uses radiofrequency identification (RFID) technology to monitor all critical work carried out in each stage of IVF procedures cycle. Objective: The main objective of the study was validation and integration of electronic witnessing system, assessment of its efficacy on lab performance, and staff satisfaction in a busy tertiary IVF center. Materials and Methods: The study data included analysis of 187 consecutive cycles for installation and validation of EWS. The laboratory outcomes were analyzed for development of good-quality embryos followed up for the pregnancy outcome. Results: A total of 751 RFIG tags were involved with 77 patient-assigned barcodes for the all the analyzed cycles. During validation of EWS, a total of 02 (0.46%) red flags were highlighted by EWS from pre-allocated tags within the frequency range of the reader. The maturation rate (83.1%), fertilization rate (74.3%), cleavage rate (93.5%), day 3 grade-A embryo development rate (64.6%), good grade blastocyst development rate (26.4%) were observed in EWS group that was comparable to other groups with no significant difference (P > 0.005). Frozen embryo transfer of EWS cases observed a clinical pregnancy rate (50.0%) that was higher than other groups though statistically not significant as sample size was small. Conclusions: Our preliminary study suggests that EWS does not affect the gametes, embryos, and pregnancy rate, however a larger randomized clinical trials should be undertaken to evaluate the safety and efficacy of EWS.

Research paper thumbnail of Amplification of RUNX1 gene in two new cases of childhood B-cell precursor acute lymphoblastic leukemia: A case report

Journal of Clinical Oncology, 2009

e21000 Background: Chromosome abnormalities of leukemia cells have important prognostic significa... more e21000 Background: Chromosome abnormalities of leukemia cells have important prognostic significance in childhood acute lymphoblastic leukemia (ALL). B-cell precursor acute lymphoblastic leukemia (BCP-ALL) ETV6/RUNX1 (alias TEL/AML1) is most frequent i.e. 15 - 35% in the children with 2 - 18 age group. We report two new cases with Pre B- cell ALL without ETV6/RUNX1 rearrangement, showing amplification of AML1 gene detected by FISH analysis. Methods: Bone marrow samples were analyzed for chromosomal abnormalities with conventional G-banding techniques and interphase fluorescence in situ hybridization (FISH) using probes to detect BCR/ABL t(9;22)(q34-q11) fusion, cryptic TEL/AML1 t(12:21)(p13-q22) and MLL rearrangement for del 11q23. Results: In first case a 3-year girl with four copies of AML (RUNX1) gene were observed in 95% of the cell with normal two copies of TEL (ETV6) gene in both interphase and metaphase FISH. We observed BCR-ABL negative translocation and no MLL gene rearrang...

Research paper thumbnail of Molecular cytogenetic study in pediatric b-lineage acute lymphoblastic leukemia (BCP-ALL): A collaborative study group from North India

Journal of Clinical Oncology, 2010

e20001 Background: Chromosome abnormalities of leukemia cells have important prognostic significa... more e20001 Background: Chromosome abnormalities of leukemia cells have important prognostic significance in childhood acute lymphoblastic leukemia (ALL). The prevalence of various chromosomal abnormali...

Research paper thumbnail of Do Gonadotropins Used for Ovarian Stimulation in Assisted Reproduction Cause Increase in Chromosome Aneuploidy, Chromosome Mosaicism and Skewed Sex Ratio in Embryos?

Recent studies highlighted the potential risks of major birth defect in IVF pregnancy as well as ... more Recent studies highlighted the potential risks of major birth defect in IVF pregnancy as well as IVF-ICSI pregnancies in comparison to naturally conceived pregnancies. This increased risk could be due to either gonadotropins used for ovarian stimulation or in vitro culture conditions or multiple pregnancy or combinations of all the factors. It is postulated that exogenously administered high dose of gonadotropins results in very high concentration of circulating steroids that may have influence on oocytes leading to excess abnormality in embryos. Due to difficulties (technical as well as ethical) in obtaining naturally fertilized eggs (preimplantation embryos), identical population and identical environmental condition it seems difficult to assess effect of gonadotropin in inducing excess anomalies in human. Furthermore, human IVF pregnancies mainly from infertile couples with advanced maternal age that itself is a risk factor for increased chromosome aneuploidy. Additionally it is ...

Research paper thumbnail of Skewed sex ratio and low aneuploidy in recurrent early missed abortion

The Indian journal of medical research, 2006

Conventional cytogenetic studies have revealed more number of females in spontaneous abortion and... more Conventional cytogenetic studies have revealed more number of females in spontaneous abortion and it has been assumed that a large proportion of those were resulted from maternal contamination and overgrowth of maternal decidua in long term culture. In this study we have attempted to overcome difficulties of conventional cytogenetics by using meticulous tissue dissection and molecular methods onto uncultured chorionic villous tissue thus bypassing long term culture to find out true sex ratio and frequency as well as type of common aneuploidy in early missed abortions. Early missed abortion products (n=58) were collected from recurrent aborter in and around Lucknow, India, over a period of three years. All the cases were selected on the basis of ultrasonography diagnosis. Chorionic villous tissue was cleaned from maternal tissue and processed for conventional as well as molecular cytogenetic analysis. Conventional cytogenetics was successful in 15, of which 12 were females and 3 male...

Research paper thumbnail of Serum inhibin B and follicle-stimulating hormone levels as markers in the evaluation of azoospermic men: a comparison

Andrologia, Oct 1, 2005

ABSTRACT Inhibin B is a glycoprotein hormone produced mainly by Sertoli cells of the testes in th... more ABSTRACT Inhibin B is a glycoprotein hormone produced mainly by Sertoli cells of the testes in the adult male. It selectively suppresses the secretion of pituitary follicle-stimulating hormone (FSH) and has local paracrine actions in the testes. Its measurement is useful for investigating the role of inhibin B in male gonadal dysfunction. The objective of this study was to investigate the efficacy of serum inhibin B in men with nonobstructive azoospermia in comparison with FSH. Serum concentration of FSH was measured using microparticle enzyme immunoassay, inhibin B by specific solid phase sandwich enzyme-linked immunosorbent assay in men with nonobstructive azoospermia (n = 46) and control fertile men (n = 5). Mean inhibin B and FSH level was 104.6 pg ml(-1) and 4.0 mIU ml(-1) in control men whereas the value for nonobstructive azoospermic men was 17.06 pg ml(-1) and 31.1 mIU ml(-1) respectively. Inhibin B and FSH levels were significantly different in azoospermia than controls (P &lt; 0.0001). There were six cases of nonobstructive azoospermia with normal inhibin B. Testicular histology did not find any evidence of spermatogenesis in three cases with normal inhibin B. This demonstrated that inhibin B was not a superior predictor for testicular function in our study.

Research paper thumbnail of A preliminary study on chromosome aneuploidy & mosaicism in early pre-implantation human embryo by fluorescence in situ hybridization

The Indian journal of medical research, 2008

Chromosome aneuploidy plays an important role in infertility, early pregnancy wastage and perinat... more Chromosome aneuploidy plays an important role in infertility, early pregnancy wastage and perinatal mortality. Cytogenetic & fluorescent in situ hybridization (FISH) studies on developmentally arrested and morphologically poor embryo have shown high frequency of chromosomal abnormality and mosaicism. In this study, we attempted to evaluate chromosome aneuploidy and mosaicism on human embryos through the use of FISH. Sixty one grade IV un-transferable embryos were obtained from 25 patients undergoing in vitro fertilization (IVF). Forty six embryos were studied by FISH; 15 were lost during transport and handling. FISH probes (non-commercial) for centromeres of chromosome X, Y, 1 and 18 were used for the study. Zona of embryos were dissolved in 0.01N HCl containing 0.1 per cent Tween 20 for 2-3 min. Interpretable FISH results were obtained in 24 embryos. Nineteen embryos (79.2%) were disomic (normal) for chromosome X/Y or 1/18 and five (20.8%) were abnormal. Among five abnormal embryos...

Research paper thumbnail of Effectiveness of Using IVD Certified Platform for Monitoring Minimal Residual Disease in Chronic Myelogenous Leukemia Patient

Apollo Medicine, 2008

The appropriate management of hematological disorders must rely on a precise and long-term monito... more The appropriate management of hematological disorders must rely on a precise and long-term monitoring of the patient's response to chemotherapy and radiotherapy. The presence of residual malignant cells among normal cells is termed minimal residual disease (MRD). Nowadays a great progress has been made in the treatment of malignant diseases and in the development of reliable molecular techniques, which are characterized by high sensitivity and ability to distinguish between normal and malignant cells at diagnosis and during follow-up. Especially, MRD data based on quantitative analysis (RQ-PCR) appear to be crucial for appropriate evaluation of treatment response in CML. Implementation of standardized approaches for MRD assessment into routine molecular diagnostics available in Immunology & Molecular Biology Lab at Indraprastha Apollo Hospital, New Delhi should be regarded nowadays a crucial point in further MRD study.

Research paper thumbnail of High prevalence of D/G group acrocentric RPL chromosome polymorphisms in 1400 recurrent pregnancy losses patients, an evaluation of genetic factor and reassessing CPMs in 21 st century as normal variants

High prevalence of D/G group acrocentric RPL chromosome polymorphisms in 1400 recurrent pregnancy losses patients,, 2024

Background: The current burden for recurrent pregnancy losses in India is quite high and is aroun... more Background: The current burden for recurrent pregnancy losses in India is quite high and is around 7.4% and majority of them with no definitive cause for pregnancy loss even after complete RPL workup. The objective of the study was to investigate the prevalence and possible association of chromosome polymorphisms with recurrent pregnancy loss patients. Methods: A single centre case-control retrospective study on RPL patients undergoing conventional cytogenetics culture techniques to rule out chromosome abnormalities. Results: The prevalence of chromosome polymorphism in the study was 33.7% (471/1400) high in comparison to previous studies. The acro ps+/-polymorphisms involving D/G group of chromosomes was significantly higher in the study group observed in 23.5% (330/1400) patients and 15.8% (58/366) in the control group p <0.005. The prevalence of 22ps+ subtype polymorphism was significantly higher in the patient groups with the odd ratio OR (95% CI)-2.35 (1.245-4.434). Conclusions: This study substantiates the very high prevalence of CPMs and therefore should be interpreted cautiously till further strong evidence are available, until then patient should be counselled on case-to case basis. In future CPMs may play a crucial role in prognosis and management in unexplained RPL group with no other definitive cause identified after RPL workup as per recommendations from international and national guidelines.

Research paper thumbnail of Impact of Vitamin D Supplementation on Semen Quality in Vitamin D-Deficient Infertile Males with Oligoasthenozoospermia

The Journal of Obstetrics and Gynecology of India, 2019

Introduction Male factor contributes to almost 50% cases of infertility. There is evidence of the... more Introduction Male factor contributes to almost 50% cases of infertility. There is evidence of the effect of serum vitamin D on male fertility by helping in spermatozoa maturation and initiating acrosomal reaction. In India, vitamin D deficiency has been documented to be in the range of 50-90% among all the age groups. Objective To study the levels of vitamin D and the impact of vitamin D supplementation in vitamin D-insufficient/deficient infertile males with oligoasthenozoospermia. Material and methods This study is a longitudinal observation study. Infertile men with either oligozoospermia or asthenozoospermia with vitamin D levels < 30 ng/ml were enrolled. Vitamin D and calcium supplementation was given, and semen and hormone parameters were assessed at the end of 3 and 6 months. Result There is significant improvement in the mean sperm concentration and progressive sperm motility in infertile males with oligoasthenozoospermia after 6 months of vitamin D supplementation (p value < 0.001). The overall clinical pregnancy rate in the study was 8.33% after vitamin D supplementation (p value 0.24). Conclusion Vitamin D supplementation plays a crucial role in regulating male fertility.

Research paper thumbnail of Association of occupational exposure on semen density in male industrial workers undergoing infertility treatment at tertiary care hospital

International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2019

Background: Working with particular substances or under certain working situations may cause some... more Background: Working with particular substances or under certain working situations may cause some workers to experience abnormalities in their sexual or reproductive health. Occupational exposures can lead to infertility, but the workers may not be aware of such problems. The purpose of the study was to determine the association between male infertility and occupation of industrial workers in organized sector.Methods: Prospective case-controlled study that included 136 industrial workers working in organized sector and attending infertility clinic for treatment. This study included male partners aged between 21-46 years with primary or secondary infertility and undertaking same occupation for at least last three months. Complete infertility workup of all male partners attending infertility clinic was done that included detailed history and information related to occupation. Routine semen parameters were evaluated according to the 2010 World Health Organization (WHO) criteria.Results...

Research paper thumbnail of An intrauterine insemination audit at tertiary care hospital: A 4½ years' retrospective analysis of 800 intrauterine insemination cycles

Journal of Human Reproductive Sciences, 2018

Background: There are many variables that may influence the success rates of intrauterine insemin... more Background: There are many variables that may influence the success rates of intrauterine insemination (IUI) treatment. Therefore, a regular audit program is needed for planning effective infertility treatment and improving pregnancy outcomes. Aims and Objectives: The main objective of this study was to identify the crucial predicting factors that can influence the IUI success. Materials and Methods: A retrospective analysis of 800 IUI cycles done from January, 2013 to August, 2017 in 651 couples with various etiologies of infertility. The common etiologies included female factor of ovulatory dysfunction, tubal, endocrinal, male factor, male and female factors combined, and unexplained factors. Ovulation induction was done either by clomiphene citrate (CC) alone or in combination of CC with gonadotropins or pure gonadotropins only. Human chorionic gonadotropin trigger was given when at least one dominant follicle measuring ≥18 mm with an endometrial thickness of >7 mm was obtained. IUI was done post 36 h of trigger. The double-density gradient method was the preferred method of sperm preparation. Results: In 800 cycles in corresponding 651 couples, the total outcome was 113 pregnancies (14.1%) per cycle with overall pregnancy rate (PR) per couple of 17.3%. The highest PR was observed in the patient with ovulatory dysfunction (21.2%), followed by patients with combined factor (15.1%) and male factor (14.7%). In the study, a higher PR was achieved in the female ≤25 years (18.9%) P < 0.04 with significant findings with duration of infertility ≤5 years (15.1%) having primary infertility (14.5%) with low body mass index <25 (14.1%). IUI success rate was highest in the first cycle (14.6%) followed by second cycle (14.0%) and third cycle (3.5%). Conclusion: IUI audit enables the characterization of prognostic factors to achieve improved PR. This study identifies the factors that can predict improved pregnancy outcome in women age ≤25 years and endometrium thickness between 9 and 11 mm. We also recommend IUI as a first line of infertility treatment for couples in low-income setting provided the women age and duration of infertility are acceptably low.

Research paper thumbnail of Chromosome aneuploidy and mosaicism in preimplantation embryos

Research paper thumbnail of Chapter-45 Y Chromosome and Its Role in Male Infertility

Manual of Assisted Reproductive Technologies and Clinical Embryology, 2012

Research paper thumbnail of Potential Use Of Blood, Buccal And Urine Cells For Rapid Noninvasive Diagnosis Of Suspected Aneuploidy Using Fluorescence In Situ Hybridization (FISH)

Objective: The objective of the study was to determine whether noninvasive and readily available ... more Objective: The objective of the study was to determine whether noninvasive and readily available cells could be used for rapid diagnosis of specific chromosomal abnormality to facilitate management of patients in acute/specialized situation. Methods: In the present study we analyzed blood, buccal & urine cells from 3 patients with pure trisomy 21 with locus specific FISH probes for chromosome 21. Three normal subjects were included for comparison. The clinical cases were confirmed with conventional cytogenetic studies of peripheral lymphocytes before inclusion in the study. Result: Average frequencies for 1, 2 and 3 hybridization signals were 2.2%, 6% and 91% for blood cells, 2.5%, 7% and 89.8% for buccal cells and 2%, 9.3% and 87.4% for urine cells, respectively in the cases. False trisomic cells were less than 1% in all type of cells in controls. False monosomic cells were 3.6%, 4.5% & 9.8% for blood, buccal & urine cells in controls which was quite similar to alphoid FISH probes ...

Research paper thumbnail of Assisted Conception Techniques: Which One to Choose

The Diagnosis and Treatment of Male Infertility, 2017

Research paper thumbnail of Carcinoma

preliminary investigation of genomic screening in cervical

Research paper thumbnail of Key words: CATCH22 Syndrome, 22q11.2 Deletion

We report an eight years female child with clinical and molecular cytogenetic findings consistent... more We report an eight years female child with clinical and molecular cytogenetic findings consistent with CATCH22 syndrome characterized by cardiac defect, typical facial dysmorphism, mental deficiency and chromosome 22q11.2 deletion. Interphase FISH with 22q11.2 probe demonstrated hemizygous deletion in 98.5 % nuclei. Interphase FISH for diagnosis of CATCH22 syndrome has not been reported previously from India to our knowledge.

Research paper thumbnail of A comparative study of semen parameters of men undergoing fertility treatment from urban population residing in Delhi/NCR region and semi-urban population from adjoining states

Objective: To analyze the difference in semen parameters of men from urban areas of Delhi/NCR wit... more Objective: To analyze the difference in semen parameters of men from urban areas of Delhi/NCR with those residing outside Delhi region. Material and Methods: A retrospective cross-sectional study was undertaken at tertiary level center located in New Delhi region between the period of August 2019 to January 2020. A total of 657 men undergoing fertility workup during their infertility treatment were included in the study with 521 (79.2%) men from Delhi/NCR region (urban) and another 136 (20.7%) men from outside Delhi region (semi-urban) with mean age of both the group was 35.6 ± 5.7 years. Results and Discussion: It was observed in both the groups that there was no statistical difference noted in mean ± SD of in semen volume (1.79 ± 0.84 vs 1.78 ± 0.83), sperm concentration (49.9 ±32.4 vs 49.8 ± 32.4), total motility (58 ± 22.5 vs 58.1 ± 22.5), progressive motility (32.3 ±13.8 vs 32.2 ± 13.8) P = 0.95 and sperm morphology (2.3 ± 2.2 vs 2.3 ± 2.2). The prevalence of male factor subfer...

Research paper thumbnail of Short ejaculatory abstinence in normozoospermic men is associated with higher clinical pregnancy rates in sub-fertile couples undergoing intra-cytoplasmic sperm injection in assisted reproductive technology: A retrospective analysis of 1691 cycles

Journal of Human Reproductive Sciences, 2021

Background: The current WHO abstinence recommendations are ideal only for clinical diagnosis, as ... more Background: The current WHO abstinence recommendations are ideal only for clinical diagnosis, as in recent years a negative correlation of abstinence duration with good embryo development and clinical pregnancy rate has been seen. Aim: The aim of the study was to evaluate the impact of variation in abstinence period on fertilization, embryo development potential, pregnancy, and miscarriage rate in sub-fertile couples undergoing assisted reproductive technology (ART) treatment. Setting and Design: A prospective analysis was conducted at a tertiary (level 3) infertility care clinic. Materials and Methods: The study included analysis of 1691 cycles for the patient undergoing ART procedures between September 2017 and August 2019. The influence of ejaculatory abstinence (EA) was investigated based on variation in abstinence length with four groups: Group I – 1 day; Group II – 2–5 days; Group III – 6–7 days; and Group IV – EA length of ≥8 days. Statistical Analysis: Analysis of variance and Chi-square test were used to calculate P value. Results: In our primary outcome, we have seen a strong positive correlation of abstinence duration with semen volume, total sperm count, total motile count, and difference between each group was significant. Secondary outcomes showed a significantly higher implantation rate, biochemical pregnancy rate was observed in Group I (1 day) per embryo transfer as compared to longer abstinence groups. This resulted in significantly higher clinical pregnancy rates in Group I 30.0% vs. 25.4% in comparison to longer abstinence groups. Conclusions: Our study has shown duration of abstinence is negatively correlated with positive β-human chorionic gonadotropin rate, clinical pregnancy rate, and implantation rate. Lower miscarriage rate was also observed with shorter abstinence duration.

Research paper thumbnail of A Preliminary Experience of Integration of an Electronic Witness System, its Validation, Efficacy on Lab Performance, and Staff Satisfaction Assessment in a Busy Indian in vitro Fertilization Laboratory

Journal of Human Reproductive Sciences, 2020

Background: Electronic witness system (EWS) is one of the recent advancements in the field of in ... more Background: Electronic witness system (EWS) is one of the recent advancements in the field of in vitro fertilization (IVF) that uses radiofrequency identification (RFID) technology to monitor all critical work carried out in each stage of IVF procedures cycle. Objective: The main objective of the study was validation and integration of electronic witnessing system, assessment of its efficacy on lab performance, and staff satisfaction in a busy tertiary IVF center. Materials and Methods: The study data included analysis of 187 consecutive cycles for installation and validation of EWS. The laboratory outcomes were analyzed for development of good-quality embryos followed up for the pregnancy outcome. Results: A total of 751 RFIG tags were involved with 77 patient-assigned barcodes for the all the analyzed cycles. During validation of EWS, a total of 02 (0.46%) red flags were highlighted by EWS from pre-allocated tags within the frequency range of the reader. The maturation rate (83.1%), fertilization rate (74.3%), cleavage rate (93.5%), day 3 grade-A embryo development rate (64.6%), good grade blastocyst development rate (26.4%) were observed in EWS group that was comparable to other groups with no significant difference (P > 0.005). Frozen embryo transfer of EWS cases observed a clinical pregnancy rate (50.0%) that was higher than other groups though statistically not significant as sample size was small. Conclusions: Our preliminary study suggests that EWS does not affect the gametes, embryos, and pregnancy rate, however a larger randomized clinical trials should be undertaken to evaluate the safety and efficacy of EWS.

Research paper thumbnail of Amplification of RUNX1 gene in two new cases of childhood B-cell precursor acute lymphoblastic leukemia: A case report

Journal of Clinical Oncology, 2009

e21000 Background: Chromosome abnormalities of leukemia cells have important prognostic significa... more e21000 Background: Chromosome abnormalities of leukemia cells have important prognostic significance in childhood acute lymphoblastic leukemia (ALL). B-cell precursor acute lymphoblastic leukemia (BCP-ALL) ETV6/RUNX1 (alias TEL/AML1) is most frequent i.e. 15 - 35% in the children with 2 - 18 age group. We report two new cases with Pre B- cell ALL without ETV6/RUNX1 rearrangement, showing amplification of AML1 gene detected by FISH analysis. Methods: Bone marrow samples were analyzed for chromosomal abnormalities with conventional G-banding techniques and interphase fluorescence in situ hybridization (FISH) using probes to detect BCR/ABL t(9;22)(q34-q11) fusion, cryptic TEL/AML1 t(12:21)(p13-q22) and MLL rearrangement for del 11q23. Results: In first case a 3-year girl with four copies of AML (RUNX1) gene were observed in 95% of the cell with normal two copies of TEL (ETV6) gene in both interphase and metaphase FISH. We observed BCR-ABL negative translocation and no MLL gene rearrang...

Research paper thumbnail of Molecular cytogenetic study in pediatric b-lineage acute lymphoblastic leukemia (BCP-ALL): A collaborative study group from North India

Journal of Clinical Oncology, 2010

e20001 Background: Chromosome abnormalities of leukemia cells have important prognostic significa... more e20001 Background: Chromosome abnormalities of leukemia cells have important prognostic significance in childhood acute lymphoblastic leukemia (ALL). The prevalence of various chromosomal abnormali...

Research paper thumbnail of Do Gonadotropins Used for Ovarian Stimulation in Assisted Reproduction Cause Increase in Chromosome Aneuploidy, Chromosome Mosaicism and Skewed Sex Ratio in Embryos?

Recent studies highlighted the potential risks of major birth defect in IVF pregnancy as well as ... more Recent studies highlighted the potential risks of major birth defect in IVF pregnancy as well as IVF-ICSI pregnancies in comparison to naturally conceived pregnancies. This increased risk could be due to either gonadotropins used for ovarian stimulation or in vitro culture conditions or multiple pregnancy or combinations of all the factors. It is postulated that exogenously administered high dose of gonadotropins results in very high concentration of circulating steroids that may have influence on oocytes leading to excess abnormality in embryos. Due to difficulties (technical as well as ethical) in obtaining naturally fertilized eggs (preimplantation embryos), identical population and identical environmental condition it seems difficult to assess effect of gonadotropin in inducing excess anomalies in human. Furthermore, human IVF pregnancies mainly from infertile couples with advanced maternal age that itself is a risk factor for increased chromosome aneuploidy. Additionally it is ...

Research paper thumbnail of Skewed sex ratio and low aneuploidy in recurrent early missed abortion

The Indian journal of medical research, 2006

Conventional cytogenetic studies have revealed more number of females in spontaneous abortion and... more Conventional cytogenetic studies have revealed more number of females in spontaneous abortion and it has been assumed that a large proportion of those were resulted from maternal contamination and overgrowth of maternal decidua in long term culture. In this study we have attempted to overcome difficulties of conventional cytogenetics by using meticulous tissue dissection and molecular methods onto uncultured chorionic villous tissue thus bypassing long term culture to find out true sex ratio and frequency as well as type of common aneuploidy in early missed abortions. Early missed abortion products (n=58) were collected from recurrent aborter in and around Lucknow, India, over a period of three years. All the cases were selected on the basis of ultrasonography diagnosis. Chorionic villous tissue was cleaned from maternal tissue and processed for conventional as well as molecular cytogenetic analysis. Conventional cytogenetics was successful in 15, of which 12 were females and 3 male...