Chromosomal segregation in sperm of the Robertsonian translocation (21;22) carrier and its impact on IVF outcome.

PURPOSE: To assess the variability of meiotic segregation patterns in sperm of Robertsonian translocation (RobT) carrier t(21;22) and present effect on reproductive outcome. METHODS: Infertile couple enrolled in IVF/ICSI program. Sperm chromosomal segregation analysis was done using FISH; preimplantation genetic testing for aneuploids (PGT-A) was performed by NGS. RESULTS: Patients had a low fertilization rate and a negative outcome after the first IVF/ICSI cycle, so they were advised to do chromosomal aberration analysis before their next attempt. The second IVF/ICSI procedure resulted in pregnancy, and two blastocysts were cryopreserved. The NIFTY test has shown low risk for all tested trisomies, sex chromosomes aneuploidis, and deletion syndromes, so a healthy female child was born. During pregnancy, karyotypisation results revealed that the male partner is a RobT carrier t(21;22). Sperm segregation analysis of chromosomes 21 and 22 has shown six types of sperm chromosome sets. The majority of sperm cells had a normal/balanced RobT form of a haploid set of chromosomes (68.5-76%) called an "alternate." Sperm cells that had additional chromosome 21 or 22, or lack of chromosome 21 or 22, were present in 4-12%. PGT-A performed on two cryopreserved blastocysts revealed one embryo euploid and the other with the mosaic aneuploidy of chromosome 7 present in 50% of the cells. CONCLUSION: Infertile couples with a RobT male carrier who have semen comprising of normal/alternate form in the majority have a good prognosis of IVF/ICSI outcome. PGT is recommended because of the possible occurrence of viable trisomic embryos and potential interchromosomal effect.

Continuous compared with cyclic oral contraceptives for the treatment of primary dysmenorrhea: a randomized controlled trial.

OBJECTIVE: To estimate whether continuous oral contraceptive pills (OCPs) will result in more pain relief in primary dysmenorrhea patients than cyclic OCPs, which induce withdrawal bleeding with associated pain and symptoms. METHODS: We conducted a double-blind, randomized, controlled trial comparing continuous to a cyclic 21-7 OCP regimen (gestodene 0.075 mg and ethinyl estradiol 20 microgram) for 6 months in 38 primary dysmenorrhea patients. The primary outcome was the difference in subjective perception of pain as measured by the visual analog scale over a period of 6 months. RESULTS: Twenty-nine patients completed the study. In both groups, pain reduction measured by visual analog scale declined over time and was significant at 6 months compared with baseline, with no difference between groups. Continuous regimen was superior to cyclic regimen after 1 month (mean difference -27.3, 95% confidence interval [CI] -40.5 to -14.2; P<.001) and 3 months (mean difference -17.8, 95% CI -33.4 to -2.1; P=.03) of treatment. Secondary outcomes noted no difference between groups in terms of menstrual distress as measured by the Moos Menstrual Distress Questionnaire. After 6 months, there was an increase in weight and a decrease in systolic blood pressure in the continuous group compared with the cyclic group. CONCLUSION: Both regimens of OCPs are effective in the treatment of primary dysmenorrhea. Continuous OCPs outperform cyclic OCPs in the short term, but this difference is lost after 6 months. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov, www.clinicaltrials.gov, NCT00517556. LEVEL OF EVIDENCE: I.

Continuous glucose monitoring during pregnancy in women with polycystic ovary syndrome.

OBJECTIVE: To estimate whether women with polycystic ovary syndrome (PCOS) will display ambient hyperglycemia (as measured by continuous glucose monitoring) early in pregnancy that progressively exacerbates with advancing pregnancy. METHODS: This was a case-control study during singleton pregnancies of 17 women with PCOS and 17 healthy women. A 75-g oral glucose tolerance test (OGTT) followed by 24-hour continuous glucose monitoring was obtained four times throughout the pregnancy (visit 1: 6-10 weeks; visit 2: 12-16 weeks; visit 3: 24-28 weeks; visit 4: 34-38 weeks). RESULTS: Eight women with PCOS (47%) and two women in the control group (12%) developed gestational diabetes mellitus (GDM) as defined by World Health Organization criteria. Women with PCOS had a higher area under the curve for glucose during the OGTT at visit 1, visit 2, and visit 3, and for insulin at visit 1, compared with the control group. No differences were found between groups for any of the continuous glucose monitoring parameters studied. The free androgen index significantly decreased over the course of the study in both groups with a stronger decrease in the PCOS group at visit 1 (P=.003), visit 2 (P=.07), and visit 3 (P=.04). The difference in birth weight between groups was not significant: 3,346 g in women with PCOS and 3,633 g in women in the control group, and there was no perinatal morbidity. CONCLUSION: Women with PCOS are at increased risk for GDM, which manifests early in pregnancy and is detectable by OGTT. Serial 24-hour glucose monitoring did not reveal changes in glucose metabolism, although our sample size was small. Hyperandrogenemia improves with progressive pregnancy in women with PCOS. LEVEL OF EVIDENCE: II.

Comparison of hormonal and metabolic markers after a high-fat, Western meal versus a low-fat, high-fiber meal in women with polycystic ovary syndrome.

OBJECTIVE: To determine the effect of meal composition on postprandial T levels in women with polycystic ovary syndrome (PCOS). DESIGN: Randomized, crossover design. SETTING: Academic research center. PATIENT(S): Fifteen women with PCOS. INTERVENTION(S): We evaluated changes in T, sex hormone binding globulin (SHBG), DHEAS, cortisol, glucose, and insulin for 6 hours after a high-fat, Western meal (HIFAT) (62% fat, 24% carbohydrate, 1 g fiber) and an isocaloric low-fat, high-fiber meal (HIFIB) (6% fat, 81% carbohydrate, 27 g fiber). MAIN OUTCOME MEASURE(S): Change in T levels. RESULT(S): Testosterone decreased 27% within 2 hours after both meals. However, T remained below premeal values for 4 hours after the HIFIB meal and 6 hours after the HIFAT meal. Insulin was twofold higher for 2 hours after the HIFIB meal compared with the HIFAT meal. Glucose was higher for 1 hour after the HIFIB meal compared with the HIFAT meal. DHEAS decreased 8%-10% within 2-3 hours after both meals, then increased during the remainder of the study period. Cortisol decreased during the 6-hour period after both meals. CONCLUSIONS: Diet plays a role in the regulation of T levels in women with PCOS. Further studies are needed to determine the role of diet composition in the treatment of PCOS.

Endometrial growth in early pregnancy after IVF/ET.

PURPOSE: To detect the endometrial volume change in conception cycles. Additionally we measured endometrium in three planes, to see if the hypothesized endometrial volume differences will be detectable by this surrogate technique. METHODS: Following the embryo transfer, a three-dimensional ultrasound exam was performed on average days 22 and 28 of the cycle. RESULTS: Seventy-eight subjects signed the informed consent form, and 63 completed the study. A significant difference was observed between Visit 1 and Visit 2, for endometrial volume, thickness, length and width in the pregnant group, and for endometrial volume, thickness and width in the non-pregnant group. CONCLUSIONS: In this study we have shown that in normal intrauterine pregnancy after IVF/ET, prominent endometrial volume growth can be detected by a three-dimensional ultrasound over the course of several days. Moreover, in patients who did not conceive in a particular cycle, a decrease in endometrial volume can be seen.

Should the practice of double blastocyst transfer be abandoned? A retrospective analysis.

As multiple pregnancy is now considered to be an adverse event of an IVF procedure, reducing the multiple pregnancy rates has become the goal of many IVF centres. A large number of double blastocyst transfers in non-selected patients were performed in the author's institution over recent years, and a retrospective analysis was conducted to investigate if multiple pregnancy rates in such a population are still unacceptably high. In addition, the factors determining the birth of singletons or multiple births following the transfer of two blastocysts was analysed. The live-birth rate per cycle was 35.7%, and the multiple-birth rate was 44.2% of all births. When clinically important variables that performed significantly in univariate analysis were analysed in the multiple regression model, age was negatively correlated with singleton and multiple births, and the transfer of two optimal blastocysts was positively correlated. Based on these results, abandoning the transfer of two blastocysts at least in patients younger than 37 years is recommended, regardless of embryo quality, as even the transfer of two non-optimal blastocysts results in almost 20% multiple births.

Pericentric inversion of chromosome 2 in a patient with the empty follicle syndrome: case report.

The empty follicle syndrome (EFS) is defined as a lack of retrieved oocytes from follicles, at the time of repeated aspiration and flushing, following ovulation induction. The actual mechanism responsible for the EFS is still unknown. The aim of this study was to offer more information regarding the possible connection of this syndrome with pericentric inversion of chromosome 2. We give a case report of a patient who had multiple failed IVF attempts, due to the absence of oocyte and granulosa cells in the follicular fluid, following oocyte retrieval in both stimulated and natural cycles. Chromosomal analysis showed the presence of a pericentric inversion of chromosome 2: 46,XX,inv(2)(p11q21) in the female partner karyotype, while the male partner had a normal karyotype. Our case showed possible genetic factor influence in the aetiology of EFS.

Long-term treatment with vaginal estradiol tablets--an impact on uterine artery blood flow.

OBJECTIVE: We investigated, using color Doppler ultrasound, possible detectable blood changes of prolonged treatment with 17-beta-estradiol tablets on uterine artery blood flow, in a cohort of low risk postmenopausal women. METHODS: 39 postmenopausal women, who were taking local estrogen therapy for at least 6 months, were examined in the study group. Forty-two women who never used hormone replacement therapy consisted a control group. They were examined with color Doppler ultrasound and the pulsatility index of the uterine artery was measured. The groups were divided into three subgroups (the age, the duration of the postmenopause, and the duration of the treatment) and the data were compared among groups and within subgroups. RESULTS: The overall mean age of the patients was 66 years, the mean duration of the postmenopause was 15 years, the overall mean PI was 1.96 +/- 0.90, and the mean duration of taking vaginal estradiol tablets was 1.97 years for the study group; and 64 years, 13 years and 2.88 +/- 0.96 for the control group, respectively. There was a difference in the mean PI among groups. No significant differences in pulsatility index values in the subgroups were found. CONCLUSION: Long-term treatments with vaginal estradiol tablets in low risk women causes lowering of the uterine artery PI values compared to the women who are not receiving hormone replacement therapy.

Ultrasound-estimated bladder weight in healthy children.

Bladder weight in healthy children was determined ultrasonographically using a modified formula that takes into account the different shapes of the urinary bladder. Ultrasonographic examination of the bladder was performed on 92 healthy children (56 boys, 36 girls) with a 5-MHz transducer. Bladders were categorized into five groups according to shape, and three bladder diameters were measured. Ultrasound-estimated bladder weight (UEBW) was calculated according to the formula modified for bladder shape. Correction coefficients were used: 0.55 for round shape, 0.79 for ellipsoid, 0.92 for cuboid, 0.62 for triangular, and 0.78 for undefined shape. Twenty-three children had a round bladder (25%), 22 cuboid (24%), 21 ellipsoid (22.8%), 25 triangular (27.2%), and 1 child had an undefined bladder shape. Using linear regression analysis, a formula was derived for the calculation of normal values of the UEBW by age: UEBW (in grams) = A x 0.995 + 8.405 ( A=age in years). For simplicity in clinical use, the formula was modified to UEBW= A + 8.4. A statistically significant correlation was observed between UEBW and age ( r=0.78, p<0.05). UEBW correlates significantly with children's age. This simple formula is proposed for noninvasive calculation of normal UEBW by age that may be used for the objective and quantitative assessment of the degree of bladder wall hypertrophy. Further studies are needed to evaluate the potential of this method in the detection of pathological bladder conditions.

Severity of symptoms in primary dysmenorrhea--a Doppler study.

OBJECTIVE: Doppler findings in women with severe symptoms of primary dysmenorrhea include high impedance to blood flow in uterine arteries with a preserved cyclic pattern throughout the whole cycle. Doppler findings in women who present with mild symptoms of primary dysmenorrhea are not yet documented. The aim of this study was to investigate possible differences in Doppler findings among women with mild and severe primary dysmenorrhea. STUDY DESIGN: One hundred and fifty four women were examined with color Doppler ultrasound: 50 in the control group, 60 in the mild and 44 in the severe primary dysmenorrhea subgroup. We calculated resistance index in uterine arteries in these women on the first day of the cycle, in the follicular (days 9-12) and the luteal (days 20-23) phase of the cycle and used analysis of variance for comparing results. RESULTS: The rate of visualization was 100% for uterine and arcuate arteries, 44-76% for the radial and 32-62% for spiral arteries, respectively. A significant difference in Doppler index values among the mild and severe dysmenorrheic group was observed in the luteal phase for the arcuate artery and in all the three measurement periods for the radial and spiral arteries. CONCLUSION: There is a difference in Doppler findings between women with mild and severe symptoms of primary dysmenorrhea.

Doppler sonographic renal resistance index and resistance index ratio in children and adolescents with unilateral hydronephrosis.

The aim of this study was to evaluate Doppler renal resistance index (RI) and RI ratio (RIR) in differentiating between obstructive and nonobstructive hydronephrosis in children and adolescents. The RI and RIR were measured in 32 healthy examinees (control group) and 29 patients with unilateral hydronephrosis. Ten patients had acute obstruction caused by a ureteric stone. Seven had obstructive hydronephrosis due to uretero-pelvic junction (UPJ) obstruction. Twelve patients had nonobstructive hydronephrosis. In controls the mean RI+/-S.D. was 0.615+/-0.04, and RIR 1.045+/-0.033. In children with acute obstruction RI was 0.692+/-0.035 and RIR 1.148+/-0.037. In UPJ obstruction RI was 0.631+/-0.054 and RIR 1.059+/-0.047. In nonobstructive dilatation RI was 0.61+/-0.038 and RIR 1.043+/-0.042. The RI and RIR differences were statistically significant between controls and patients with acute colic ( p<0.01), and between patients with acute obstruction and with nonobstructive hydronephrosis ( p<0.01). In detecting acute obstruction RI>/=0.70 was found to have a 70% sensitivity and a 92% specificity. The RIR>/=1.10 was found optimal to distinguish obstructive from nonobstructive dilatation (sensitivity 90%, specificity 83%). Both RI and RIR are significantly elevated in patients with acute obstruction. Renal Doppler seems to be useful in children and adolescents for the detection of acute renal obstruction, although it cannot differentiate chronic obstruction due to the UPJ obstruction and nonobstructive renal collecting system dilatation.