Purpose The study estimates the association of VEGF gene polymorphism (-1154 G/A,-2549 I/D,-2578 C/A, and +936 C/T) in recurrent pregnancy loss from South Indian population. Methods A total of 100 couples with the history of recurrent pregnancy loss and 100 couples with medically terminated pregnancies were considered. Fetal tissues with < 20 weeks of gestation including peripheral blood from case and control couples were collected. VEGF gene polymorphisms were determined by allele-specific polymerase chain reaction. Genotypic distribution and allele frequencies were evaluated by odds ratio with 95% confidence intervals. Haplotype analysis was done to determine the association of specific haplotypes with recurrent pregnancy loss. Results The VEGF-1154 G/A polymorphism was significantly prevalent in the aborted fetuses and in their mothers whereas-2549 I/D polymorphism was significantly higher in the aborted fetuses while the + 936 C/T polymorphism showed prevalence in the case mothers revealing their statistically significant association to recurrent pregnancy loss. A 1154 D 2549 A 2578 T 936 haplotype showed an increased risk in case fetuses and mothers whereas A 1154 D 2549 C 2578 C 936 , in case mothers and fathers while haplotype G 1154 I 2549 A 2578 C 936 found a protective association in the case fetuses compared to controls. Conclusion This is the first report of family-based triad study revealing a significant association of VEGF gene polymorphism in the etiology of recurrent pregnancy loss.

Premature ovarian failure is defined as the loss of functional follicles below the age of 40 years and the incidence of this abnormality is 0.1% among the 30–40 years age group. Unexplained POF is clinically recognized as amenorrhoea (>6 months) with low level of oestrogen and raised level of Luteinizing Hormone (LH) and Follicle Stimulating Hormone (FSH > 20 IU/l) occurring before the age of 40. It has been studied earlier that chromosomal defects can impair ovarian development and its function. Since there is paucity of data on chromosomal defects in Indian women, an attempt is made to carry out cytogenetic evaluation in patients with ovarian failure. Cytogenetic analysis of women with ovarian defects revealed the chromosome abnormalities to be associated with 14% of the cases analyzed. Interestingly, majority of the abnormalities involved the X-chromosome and we report two unique abnormalities, (46,XXdel(Xq21-22) and q28) and (mos,45XO/46,X+ringX) involving X chromosome in association with ovarian failure. This study revealed novel X chromosome abnormalities associated with ovarian defects and these observations would be helpful in genetic counseling and apart from, infertility clinics using the information to decide suitable strategies to help such patients.

Spontaneous abortion is the loss of pregnancy during an early gestational period. Interleukin-10 is an anti-inflammatory cytokine which plays an important role in successful pregnancy outcome. The aim of the study is to elucidate an association of IL-10 gene promoter polymorphisms (-1082G/A, -819 C/T, -592C/A) in spontaneous abortions from Telangana state of South India. The present population-based retrospective case-control triad study includes a total of 80 case families with spontaneous abortions and 100 control families with medically terminated pregnancies. Peripheral blood from all the couples and fetal tissues of <20 weeks of gestation were collected. Genotype analysis was carried out by a standard amplification refractory mutation system-polymerase chain reaction followed by agarose gel electrophoresis. The strength of the association between IL-10 gene promoter polymorphisms and spontaneous abortions were measured by odd ratios and their respective 95% confidence intervals. Haplotype analysis was carried out for the three polymorphisms to establish an association of specific haplotypes with spontaneous abortions. The increased frequency of AA genotype and A allele of -1082G/A, TT genotype and T allele of -819C/T, and AA genotype and A allele of -592C/A was observed in case fetuses and case mothers compared to their respective controls. Haplotype analysis revealed that A-C-A, G-C-A haplotypes in fetuses and haplotypes A-C-C, G-T-C, A-T-A, and G-C-A in mothers were associated with increased risk of spontaneous abortions. IL-10 gene promoter polymorphisms may act as a major genetic regulator in the etiology of spontaneous abortions with maternal genome imprinting effects.

Purpose Spontaneous abortion or miscarriage is the natural death of an embryo or foetus in the early stages of prenatal development. Interleukin-10 is an anti-inflammatory cytokine, produced by human cytotrophoblasts, and defects in its production result in specific pathological conditions during pregnancy. The present study is aimed to evaluate the association of IL-10 -1082G/A polymorphism in spontaneous abortions by comparing foetal, maternal and paternal groups-a triad study. Methods A total of 50 families with spontaneous abortions and 60 families with medically terminated pregnancies were considered for the present study. DNA from foetal tissue and parental blood samples were extracted, and the genotype analysis of IL-10 -1082G/A promoter polymorphism was carried out by amplification refractory mutation system-polymerase chain reaction followed by agarose gel electrophoresis. A statistical analysis was applied to test for the significance of the results. Results There was a statistically significant difference in the distribution of AA genotypes and A allele of IL-10 -1082G/A between the two family groups among foetuses (P=0.0002) and mothers (P=0.00005).