Associations of fertility parameters with fatty acids and DNA methylation in Mexican women undergoing in vitro fertilization.

BACKGROUND: Fatty acids (FA) likely affect human fertility at multiple levels, as deviations from physiological FA profiles are obesogenic, and FA can modify DNA methylation (DNAm). Yet, the interplay of follicular fluid (FF) and serum FA with BMI and percentage body fat (PBF) in human fertility is not completely understood. Also, associations of DNAm with fertility are largely unexplored. METHODS: Reproductive parameters ranging from retrieved oocyte number to infant birth weight, were recorded in Mexican women undergoing in vitro fertilization (n = 88). Multiple regression analysis sought BMI-adjusted and age-adjusted associations. Receiver operating characteristic analysis tested for discrimination between outcomes. RESULTS: Associations of FF and serum FA were markedly distinct. While various FF FA (C16:1, C18:0, C20:2, C20:3, arachidonic acid) were significantly and inversely associated only with retrieved oocyte number, selected serum FA were associated with a broad range of pre-fertilization and post-fertilization parameters. Associations of BMI and FF FA were complex, as arachidonic acid was inversely associated with both BMI and retrieved oocyte number, while oleic acid (OA) was directly associated with BMI and PBF. Ultrasound-assessed clinical pregnancy outcome (CP) was directly associated with serum OA but inversely with its trans isomer elaidic acid (EA) and with BMI. Compounded BMI, serum EA and OA discriminated CP well (AUC = 0.74). Whole blood DNA methylation was significantly associated with and a moderate predictor (AUC = 0.66) of percent fertilized oocytes. CONCLUSIONS: Overall FF FA pool composition rather than FA identity may impact oocyte production and cellular memory of FF FA is lost as the oocyte exits the follicular environment. The contrasting associations of BMI, FF OA and arachidonic acid suggest that the control of oocyte homeostasis by FF FA is uncoupled from BMI. Further studies are warranted to assess the potential of compounding BMI with serum EA and OA to predict CP.

Natural-cycle in vitro fertilization (IVF) combined with in vitro maturation in infertile patients with polycystic ovarian syndrome (PCOS) requiring IVF.

OBJECTIVE: In this study, we report an experience of 59 natural-cycle IVF combined with in vitro oocyte maturation (IVF/M) cycles in patients with PCOS requiring IVF recruited based on limitations to afford a conventional IVF treatment in a 9-years period. Results of IVF/M were compared with 164 cycles of IVF in PCOS patients. MATERIAL AND METHODS: In IVF/M cycles only hCG priming was used before oocyte recovery, with in vitro maturation of immature oocytes in a commercial medium. In conventional IVF group, recombinant FSH (rFSH) and GnRH agonist/antagonist for ovarian stimulation were used. In both groups, fertilization was achieved by intracytoplasmic sperm injection (ICSI) of mature oocytes and fresh embryos transferred at day 2 or day 3. RESULTS: In all IVF/M cycles oocytes and transferable quality embryos were obtained, only in 6 IVF/M cycles mature oocytes were obtained at oocyte capture day. Clinical pregnancy rate per cycle was 39.0% vs 53.6% (p = 0.0682) and delivery rate per cycle was 30.5% vs 42.6% (p = 0.1209) in IVF/M and conventional IVF respectively. Patients with ovarian hyperstimulation syndrome (OHSS) were 0% in IVF/M vs 6.7% in conventional IVF (p = 0.0399). CONCLUSION: Our experience in a private clinic in Mexico suggests that IVF/M can be a useful initial strategy to treat PCOS patients requiring IVF with comparable delivery rates to conventional IVF and a decreased risk of ovary hyperstimulation. IVF/M may be indicated to patients with limited resources paying without insurance for their infertility treatment.

[Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia].

Background: Hypohidrotic ectodermal dysplasia (HED) is a genetic skin condition presenting as hypohidrosis, hypodontia, and hypotrichosis, resulting in an important burden for affected families. The most common form of HED has an X-linked inheritance and female carriers have the option of prenatal or preimplantation genetic testing (PGT) to avoid transmission of the disease. A combined PGT for a mutation in EDA gene and aneuploidies in a Mexican carrier of X-linked HED is reported. Materials and Methods: Ovarian stimulation and assisted reproduction procedures were performed in a private academic medical center. PGT for a novel c.707-1G>A (rs886039466) mutation in EDA gene and chromosomal aneuploidies was performed by massive parallel and Sanger sequencing. Results: In the first PGT, the transfer of two blastocysts did not result in a pregnancy. An accumulative stimulation approach was decided to improve pregnancy chances for a second PGT procedure. Three ovarian stimulations were performed and 10 blastocysts coming from fresh and vitrified oocytes were genetically analyzed. A single embryo transfer produced a healthy non-carrier euploid girl. Discussion: PGT combining aneuploidy and mutation analyses is an alternative for female carriers of X-linked and other Mendelian disorders in Latin-American countries. In the era of genomic and personalized medicine, medically assisted reproduction techniques, such as PGT, are shifting from only infertility to preventive genetics.

Y chromosome microdeletions in Mexican males of couples with idiopathic recurrent pregnancy loss.

AIM: To analyze the presence of Y chromosome microdeletions in males of Mexican couples with idiopathic recurrent pregnancy losses (RPL). METHODS: Seventy-one males from couples with RPL and 66 fertile males as controls were studied. DNA was isolated from peripheral lymphocytes and used to run multiplex polymerase chain reactions. Regions AZFa (sY84, sY86), AZFb (sY127, sY134) and AZFc (sY254, sY255) of the Y chromosome were analyzed according to valid guidelines recommended by the European Academy of Andrology and the European Molecular Genetics Quality Network. Also, the sequence tagged sites (STSs): DYS262 (sY67), DYS220 (sY129), DYF85S1 (sY150), DYF86S1 (sY152) and DYF87S1 (sY153) were included in order to analyze STSs previously reported as deleted. A power analysis to support our simple size was performed. RESULTS: Results show an absence of Y chromosome microdeletions in males of couples with RPL and controls with an acceptable statistical power. CONCLUSION: The study did not show an association of recurrent pregnancy loss and Y chromosome microdeletions in Mexican male partners. Based on the results, the study of Y chromosome microdeletions in couples with RPL is not considered clinically relevant.

[Intracytoplasmic morphologically selected sperm injection (IMSI) vs intracytoplasmic sperm injection (ICSI) in patients with repeated ICSI failure]. / Inyección intracitoplásmica de espermatozoides morfológicamente seleccionados (IMSI) vs inyección intracitoplásmica de espermatozoides (ICSI) en pacientes con falla repetida a ICSI.

BACKGROUND: Intracytoplasmic sperm injection (ICSI) is highly effective for the control of male factor infertility. The sperm selected for ICSI may have structural abnormalities undetectable to 400x as nuclear vacuoles, decreasing rates of pregnancy and implantation. Recent studies show that with intracytoplasmic morphologically selected sperm injection (IMSI), at higher magnification (> 6,600x), increases pregnancy and implantation rates in patients with repeated failure to ICSI. OBJECTIVE: To compare the results of the injection of selected motile sperm organelle morphology examination (MSOME) for IMSI, instead of the use of ICSI in patients with repeated failure to ICSI. PATIENTS AND METHOD: Prospective, observational cohort study. Since February 1, 2010 was administered IMSI to couples with at least two failed cycles of ICSI, and analyzed the first 30 cycles in patients under 38 years of good ovarian reserve. This study group was compared with the last 30 cycles of ICSI performed before that date, in patients with similar clinical characteristics. The IMSI was performed with a magnification of 7,676 increases for evaluation and sperm selection. RESULTS: The groups had similar clinical characteristics. The pregnancy rate with IMSI was better than with ICSI (63 vs. 50%), the difference was not significant for the size of the sample, although the trend is clear and clinically significant in favor to IMSI. The implantation rate with IMSI (44.8%) showed statistically significant differences vs. ICSI (29.7%). No significant differences in abortion rates. CONCLUSIONS: IMSI significantly improves the implantation rate in patients with repeated failure to ICSI.

Genetic screening in infertile Mexican men: chromosomal abnormalities, Y chromosome deletions, and androgen receptor CAG repeat length.

In our study, we analyzed chromosomal abnormalities, Y chromosome deletions, androgen receptor CAG repeat length and their association with defective spermatogenesis in infertile Mexican men. Eighty-two infertile patients and 40 controls were screened for karyotypic abnormalities, Y chromosome microdeletions, and CAG repeats. Nine infertile males (11%) carried chromosomal abnormalities and 10 (12.2%) presented Y chromosome microdeletions. The mean CAG repeat length was 21.6 and 20.88 base pairs in idiopathic infertile males and controls, respectively. Our results suggest that chromosomal aberrations and Y-chromosomal microdeletions are related to male infertility in Mexican men. In addition, expansion of the CAG repeat segments of the androgen receptor is not correlated with male idiopathic infertility.