The relevance of the individual screening for genetic variants in predicting ovarian response.

OBJECTIVE: To investigate if polymorphisms of some genes involved in folliculogenesis predict ovarian response. METHODS: This prospective randomized study includes 124 egg donors genotyped for six SNPs ESR1 (rs2234693), AMHR2 (rs2002555), GDF-9 (rs10491279 and rs254286), AMH (rs10407022) and LHCBR (rs229327) genes and four STRs in ESR1 rs3138774), SHBG (rs6761), CYP19A1 (rs60271534) and AR genes (CAG repeats in exon 1). All donors followed standard ovarian stimulation protocol using a daily dose of 225 UI. The genotypes obtained were compared with the ovarian stimulation outcome. RESULTS: Regarding the number of retrieved oocytes, we found statistical differences for the ESR1 SNP and STR (19.3 ± 8.9 for TT vs 15.3 ± 6.2 for CC/CT, P = 0.027; 19.1 ± 8.3 for <17repeats vs 14.7 ± 6.2 for >17repeats, P = 0.020). Moreover, women carrying TT in the ESR1 at position c.-397T>C with ESR1 (TA)n=17 retrieved the highest number of oocytes (20.4 ± 9.3) (P = 0.001). Concerning AMHR2, we observed an association with the length of stimulation (9.1 ± 1.4 d for AA vs 9.7 ± 1.3 d for AG/GG, P = 0.021) and gonadotropin received (2050 ± 319 for AA vs 2188 ± 299 for AG/GG, P = 0.017). No significant differences were observed for the other polymorphisms (P > 0.05). CONCLUSION: The polymorphisms in ESR1 and AMHR2 genes showed a clear association with the number of retrieved oocytes and the stimulation data, respectively. Our results suggest that polymorphisms in the genes for key reproductive hormones receptors could be used to predict the ovarian response and to personalize the stimulation prior the treatment.

Cribado cromosómico del primer trimestre. Resultados en gestaciones tras reproducción asistida / Chromosomal Screening in the first trimester. Results in pregnant women after assisted reproduction

Objetivo: Comprobar la eficacia del test combinado de aneuploidías del primer trimestre en gestaciones espontáneas y compararlas con embarazos conseguidos con técnicas de reproducción asistida (TRA). Material y métodos: Estudio retrospectivo de los 1.675 cribados del primer trimestre realizados en nuestro centro, incluyendo la proteína plasmática A asociada al embarazo (PAPP-A) y la fracción libre de la subunidad b de la gonadotropina coriónica humana (b-hCG libre), edad materna y la translucencia nucal (TN). De ellos, 1.299 fueron en gestaciones espontáneas (77,5%) y 376 en gestaciones tras TRA (22,5%). El punto de corte para recomendar una prueba invasiva fue de 1/270. Resultados: El test combinado se aplicó en 74 gemelares, con dos falsos negativos. Entre las gestaciones únicas, se obtuvieron 70 cribados positivos, correspondiendo 49 de ellos (3,79%) a los espontáneos y 21 casos (6,84%) a las TRA. Se encontraron 11 cromosomopatías, 9 en espontáneos y 2 en TRA. La sensibilidad de la prueba fue de un 89% en espontáneos y de un 100% en TRA. La especificidad fue del 96 y el 93,77%, respectivamente. Conclusiones: El cribado del primer trimestre presenta una sensibilidad y especificidad elevadas en gestaciones únicas, espontáneas y tras TRA. La tasa de cribados positivos es superior en el caso de TRA (AU)

Objective: To determine the effectiveness of the combined test for aneuploidies in the first trimester of spontaneous pregnancies in comparison with pregnancies following assisted reproductive technology (ART). Materials and methods: We performed a retrospective study of 1675 triple tests performed in the first trimester in our center, including pregnancy-associated plasma-A (PAPP-A) and the free fraction of the b subunit of human chorionic gonadotropin (free b-hCG), maternal age and nuchal scan. Of these, 1299 (77.5%) were spontaneous pregnancies and 376 (22.5%) were pregnancies following ART. The cut-off point for recommending an invasive test was 1/270. Results: The combined test was carried out in 74 twin pregnancies, with two false-positive results. Among single pregnancies, 70 positive triple tests were obtained, 3.79% of spontaneous pregnancies and 6.84% of ART pregnancies. Eleven chromosomal abnormalities were found, nine in spontaneous pregnancies and two in ART pregnancies. The sensitivity of the test was 89% in spontaneous pregnancies and 100% in ART pregnancies. The specificity was 96% and 93.77%, respectively. Conclusions: The first trimester triple test has high sensitivity and specificity in single pregnancies, whether spontaneous or following ART. The rate of positive triple tests is higher in pregnancies following ART (AU)