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To determine the prevalence of physical intimate partner violence (IPV) among postpartum women reporting preconception fertility treatment compared to those who conceived without the use of assisted reproduction.Cross-sectional population-based study.Twelve U.S. states with at least a 50% PRAMS survey response rate.Postpartum respondents of the Centers for Disease Control (CDC) Pregnancy Risk Assessment Monitoring System (PRAMS) survey.Preconception fertility treatment utilization.Physical Intimate Partner Violence (IPV).Of the 43,999 respondents included in this analytic sample, roughly 2% reported physical IPV. Respondents reporting preconception fertility treatment (12.6%) were less likely to endorse physical IPV than those who conceived without fertility treatment exposure (OR 0.5, 95% CI 0.4-0.7). In the multivariate regression model, the odds of physical IPV were similar among postpartum women regardless of fertility treatment exposure (aOR 1.2, 95% CI 0.8-2.0). Residing in a household with an income under the federal poverty level and increased preconception stressors were predictive of reported physical IPV. There was no difference in type of fertility treatment and report of physical IPV. Among women exposed to fertility treatment, predictors of physical IPV included self-identification of Black (p0.0001) or Hispanic (p=0.0352) race/ethnicity as well as report of 4 or more stressors in the 12 months prior to the most recent delivery (p0.0001).The use of fertility treatment did not confer greater risk of physical IPV within this postpartum population. However, there are many individuals with infertility who never present for an assessment, proceed with treatment, or are unsuccessful, thus the extent to which infertility and fertility treatment exposure is associated with physical IPV remains to be elucidated. Women reporting a greater number of stressors may be uniquely at risk despite access and exposure to fertility treatment. The preconception period, inclusive of encounters with infertility specialists, represents a unique opportunity to screen and counsel all women for IPV.

To report fertility treatment use and outcomes among patients who use donor sperm for intrauterine insemination (IUI), in vitro fertilization (IVF), and reciprocal IVF (co-IVF).This is a retrospective review of patients who used donor sperm at an urban, southeastern academic reproductive center between 2014 and 2020.Among the 374 patients presenting for care, 88 (23.5%) were single, 188 (50.3%) were in a same-sex female partnership, and 98 (26.2%) had a male partner with a diagnosis of male factor infertility. Most patients did not have infertility (73.2%). A total of 1106 cycles were completed, of which there were 931 IUI cycles, 146 traditional IVF cycles, and 31 co-IVF cycles. Live birth rates per cycle were 11% in IUI, 42% in IVF, and 61% in co-IVF. Of all resulting pregnancies, hypertensive disorders were most commonly experienced (18.0%), followed by preterm delivery (15.3%), neonatal complications (9.5%), gestational diabetes (4.8%), and fetal growth restriction (4.8%). Of the 198 infants born, fifteen (8.3%) required admission to the neonatal intensive care unit and three (1.7%) demised. Pregnancy and neonatal complications were more likely to occur in older patients and patients with elevated body mass index.The use of donor sperm for fertility treatment is increasing. These data show reassuring live birth rates; however, they also highlight the risks of subsequent pregnancy complications. With the expansion of fertility treatment options for patients, these data assist provider counseling of patients regarding anticipated cycle success rates and possible pregnancy complications.

To characterize national outcomes of oocyte thaw (OT) cycles.Retrospective descriptive study.All autologous OT cycles reported to the Society of Assisted Reproductive Technology Clinic Outcome Reporting System from 2012 to 2018.All women undergoing OT cycles in the United States.None.Absolute numbers of oocyte cryopreservation (OC) and OT cycles over time. Among OT cycles, patient and cycle characteristics, the ratio of the total number of oocytes thawed to the number of live births by maternal age at the time of cryopreservation (ATOC), and outcomes including pregnancy, miscarriage, live birth, and good perinatal outcome (GPO) by age ATOC.From 2012 to 2018, 54,675 OC and 6,413 OT cycles were performed; the absolute numbers increased from 2,719 to 13,824 and from 348 to 1,810, respectively. The ratio of the total number of oocytes thawed to the number of live births increased significantly with increasing age ATOC, from 41.4 (age35 years) to 122.4 (age41 years). Among OT cycles resulting in embryo transfer, the live birth rate decreased with increasing age ATOC from 42.8% (age35 years) to 10.8% (age42 years). The live birth rate was higher when calculated per transfer (42.8% in women aged35 years ATOC) rather than per thaw cycle (31.5% in women aged35 years ATOC) because of the number of patients with no transfer. Among 1,124 cycles resulting in pregnancy, the chance of a GPO was highest among women aged35 years ATOC (65.8%) and decreased as age at ATOC increased.Among reported OT cycles, the rates of pregnancy and live birth decreased as age ATOC increased. The number of oocytes thawed to achieve one live birth increased significantly with increasing age ATOC. In addition, among the resulting pregnancies, the rate of GPO decreased as age ATOC increased.

Objective To identify modifying genes that explains the risk of fragile X-associated primary ovarian insufficiency (FXPOI). Design Gene-based, case/control association study, followed by a functional screen of highly ranked genes using a Drosophila model. Setting Participants were recruited from academic and clinical settings. Patient(s) Women with a premutation (PM) who experienced FXPOI at the age of 35 years or younger (n = 63) and women with a PM who experienced menopause at the age of 50 years or older (n = 51) provided clinical information and a deoxyribonucleic acid sample for whole genome sequencing. The functional screen was on the basis of Drosophila TRiP lines. Intervention(s) Clinical information and a DNA sample were collected for whole genome sequencing. Main Outcome Measures A polygenic risk score derived from common variants associated with natural age at menopause was calculated and associated with the risk of FXPOI. Genes associated with the risk of FXPOI were identified on the basis of the P-value from gene-based association test and an altered level of fecundity when knocked down in the Drosophila PM model. Results The polygenic risk score on the basis of common variants associated with natural age at menopause explained approximately 8% of the variance in the risk of FXPOI. Further, SUMO1 and KRR1 were identified as possible modifying genes associated with the risk of FXPOI on the basis of an untargeted gene analysis of rare variants. Conclusions In addition to the large genetic effect of a PM on ovarian function, the additive effects of common variants associated with natural age at menopause and the effect of rare modifying variants appear to play a role in FXPOI risk.

PURPOSE: Oocyte donor in vitro fertilization (IVF) represents an ideal model to study the effects of embryo stage on reproductive success, as embryos come from young women with high-quality oocytes. Our study aimed to determine if embryo transfer stage affected outcomes in oocyte donor IVF, including the common scenario where only a limited number of quality embryos are available after culture. METHODS: This retrospective cohort analyzed anonymous vitrified donor oocyte cycles at a single clinic between 2008 and 2015. Overall, 983 recipients underwent 1178 warming cycles resulting in fresh transfer of one-to-two embryos. Our primary outcome was live birth; secondary outcomes included multiple birth, birthweight, and gestational age. Log binomial regression with cluster-weighted generalized estimating equations were used to calculate adjusted risk ratios (aRR) accounting for recipient age, race, and transfer year. RESULTS: Among 132 cleavage and 1046 blastocyst transfer cycles, cleavage transfers were associated with lower probability of live birth (aRR 0.72, 95% CI 0.59–0.88). Subgroup analysis focused on cycles with a limited number of quality embryos 3 days post-fertilization (≤2), as clinically these women were most likely to be considered for cleavage transfers. Among these cycles (120 cleavage, 371 blastocyst), cleavage transfers were still associated with lower live birth rates compared to blastocyst (aRR 0.66, 95% CI 0.51–0.87) CONCLUSIONS: Even in a donor oocyte model with high-quality oocytes, there was a benefit to extended culture and blastocyst transfer, including when only one-to-two quality embryos were available after early culture. This is possibly owed to improved uterine synchronicity or decreased contractility.

PURPOSE: To characterize national oocyte donation practice patterns from the perspective of individual donors rather than of recipients. METHODS: Retrospective cohort including all donor oocyte retrievals and transfers reported to SARTCORS in 2016 and 2017 in the USA. Primary outcomes include characteristics of oocyte donors and of donor oocyte cycles. Secondary outcomes include overall pregnancy rates, elective single embryo transfer (eSET) rates, and perinatal outcomes among donor oocyte recipient transfers. RESULTS: During the study period, 49,193 donor oocyte retrievals were performed, of which the largest proportion were in the Western US. For all reported retrievals, there were 17,099 unique donors, each of whom underwent an average of 2.4 retrievals (range 1–22). Average donor age was 26.3 years (range 18–48). On average, 24.6 oocytes (SD 12.4) were retrieved each cycle, ranging from 0 to 102. Among 37,657 donor oocyte recipient transfers, 20,159 (53.5%) involved eSET, and 17,725 (47.1%) resulted in live birth. Miscarriage rates were 17.5%, and good perinatal outcome (GPO), defined as full-term normal birthweight delivery, was more likely among singleton (75.7%) than multiple (23.8%) pregnancies. CONCLUSION: The average number of retrievals that donors underwent and oocyte yield mirrored national guidelines; however outliers, exist that may unnecessarily increase donor risk. Additionally, among resultant donor transfers, 46.5% transferred more than one embryo despite national recommendations for eSET. The significantly higher likelihood of GPO among singleton pregnancies points to the need to further increase donor recipient eSET rates.

Purpose Approximately 20–30% of women with an FMR1 premutation experience fragile X–associated primary ovarian insufficiency (FXPOI); however, current risk estimates based on repeat size only identify women with the midrange of repeats to be at the highest risk. Methods To better understand the risk by repeat size, we collected self-reported reproductive histories on 1,668 women and divided them into high-resolution repeat size bins of ~5 CGG repeats to determine a more accurate risk for FXPOI in relation to CGG repeat length. Results As previously reported, women with 70–100 CGG repeats were at the highest risk for FXPOI using various statistical models to compare average age at menopause and risk of FXPOI, with women with 85–89 repeats being at the highest risk. Importantly, women with 120 repeats did not have a significantly increased risk for FXPOI compared to women with

Purpose Emerging evidence indicates that women who carry an FMR1 premutation can experience complex health profiles beyond the two well-established premutation-associated disorders: fragile X–associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X–associated tremor–ataxia syndrome (FXTAS, affects ~6–15% carriers). Methods To better understand premutation-associated health profiles, we collected self-reported medical histories on 355 carrier women. Results Twenty-two health conditions were reported by at least 10% of women. Anxiety, depression, and headaches were reported by more than 30%. The number of comorbid conditions was significantly associated with body mass index (BMI) and history of smoking, but not age. Survival analysis indicated that women with FXPOI had an earlier age at onset for anxiety and osteoporosis than women without FXPOI. Cluster analysis identified eight clusters of women who reported similar patterns of comorbid conditions. The majority of carriers (63%) fell into three categories primarily defined by the presence of only a few conditions. Interestingly, a single cluster defined women with symptoms of FXTAS, and none of these women had FXPOI. Conclusion Although some women with a premutation experience complex health outcomes, most carriers report only minimal comorbid conditions. Further, women with symptoms of FXTAS appear to be distinct from women with symptoms of FXPOI.

Purpose: Women who carry an FMR1 premutation (PM) can experience two well-established PM-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20–30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS, affects ~6–15% carriers); however, emerging evidence indicates that some of these women experience complex health profiles beyond FXPOI and FXTAS.Methods: In an effort to better understand predictors for these comorbid conditions, we collected self-reported medical histories on 413 women who carry an FMR1 PM.Results: There were 22 health conditions reported by at least 9% of women. In an exploratory analysis, 12 variables were tested in logistic regression models for each comorbid condition, including demographic variables, environmental variables, PM-associated factors, and endorsement of depression and/or anxiety. More than half of the comorbid conditions studied were associated with women who self-reported having anxiety. Age, smoking, body mass index (BMI), and depression were also significant predictor variables for specific comorbid conditions.Conclusions: Age, smoking, and BMI were significantly associated with a subset of the comorbid conditions analyzed. Importantly, depression or anxiety were also significantly associated with many of the comorbid health conditions. This work highlights some of the modifiable factors associated with complex health profiles among women with an FMR1 PM.

INTRODUCTION AND OBJECTIVE:Men at risk for subfertility should undergo further evaluation by a urologist, ideally with specialization in male reproduction. We investigated patient access to reprodu...

Objective To describe the trends and characteristics of oocyte cryopreservation (OC) cycles stratified by self-reported race/ethnicity in the United States Design Retrospective cohort analysis using the Society for Assisted Reproductive Technology Clinical Outcome Reporting System Setting US fertility clinics Patients All patients undergoing OC from 2012 through 2016 Interventions None Main Outcome Measures The OC cycle trends were analyzed on the basis of race/ethnicity: non-Hispanic white, non-Hispanic black, Asian/Pacific islander, Hispanic, and other (American Indian, Alaskan native, or mixed race). Results Between 2012 and 2016, there was a total of 29,631 OC cycles; the total number of cycles increased yearly from 2,925 in 2012 to 8,828 in 2016. When compared with the demographics of the United States, OC was underused by some minority patient groups because majority of the cycles (66.5%) were performed in white patients. The total number of OC cycles increased annually among all the ethnic groups, most notably among Asian patients. The patients of all the ethnic backgrounds were most commonly under 35 years of age and underwent 1 OC cycle, except for Asian patients, who most frequently underwent OC between the ages of 35 and 37 years and were more likely to have undergone ≥2 cycles than patients of other minority groups. After adjustment for cofounders, there were no clinically significant differences in oocyte yield and the percentage of maturation across the racial/ethnic groups. Conclusions Nationally, OC cycles have been increasing in number, most often in patients under the age of 35 years, with similar proportions of patients of minority groups pursuing OC over time. The oocyte yield was comparable across the ethnic groups. Future research regarding subsequent thawing outcomes is warranted.

This study uses US national surveillance data to describe preimplantation genetic testing trends and outcomes between 2014 and 2018.

Background A growing literature suggests that minority races, particularly Black women, have a lower probability of live birth and higher risk of perinatal complications after autologous assisted reproductive technology. However, questions still remain as to whether these racial disparities have arisen because of associations between race and oocyte/embryo quality, the uterine environment, or a combination of the two. Oocyte donation assisted reproductive technology represents a unique approach to examine this question. Objective This study aimed to evaluate the associations between the race of female oocyte donors and recipients and live birth rates following vitrified donor oocyte assisted reproductive technologies. Study Design This was a retrospective study conducted at a single, private fertility clinic that included 327 oocyte donors and 899 recipients who underwent 1601 embryo transfer cycles (2008–2015). Self-reported race of the donor and recipient were abstracted from medical records. Live birth was defined as the delivery of at least 1 live-born neonate. We used multivariable cluster weighted generalized estimating equations with binomial distribution and log link function to estimate the adjusted risk ratios of live birth, adjusting for donor age and body mass index, recipient age and body mass index, tubal and uterine factor infertility, and year of oocyte retrieval. Results The racial profile of our donors and recipients were similar: 73% white, 13% Black, 4% Hispanic, 8% Asian, and 2% other. Women who received oocytes from Hispanic donors had a significantly higher probability of live birth (adjusted risk ratio, 1.20; 95% confidence interval, 1.05–1.36) than women who received oocytes from white donors. Among Hispanic recipients, however, there was no significant difference in probability of live birth compared with white recipients (adjusted risk ratio, 1.07; 95% confidence interval, 0.90–1.26). Embryo transfer cycles using oocytes from Black donors (adjusted risk ratio, 0.86; 95% confidence interval, 0.72–1.03) and Black recipients (adjusted risk ratio, 0.84; 95% confidence interval, 0.71–0.99) had a lower probability of live birth than white donors and white recipients, respectively. There were no significant differences in the probability of live birth among Hispanic, Asian, and other race recipients compared with white recipients. Conclusion Black female recipients had a lower probability of live birth following assisted reproductive technology, even when using vitrified oocytes from healthy donors. Female recipients who used vitrified oocytes from Hispanic donors had a higher probability of live birth regardless of their own race.

Cancer statistics for adolescents and young adults (AYAs) (aged 15-39 years) are often presented in aggregate, masking important heterogeneity. The authors analyzed population-based cancer incidence and mortality for AYAs in the United States by age group (ages 15-19, 20-29, and 30-39 years), sex, and race/ethnicity. In 2020, there will be approximately 89,500 new cancer cases and 9270 cancer deaths in AYAs. Overall cancer incidence increased in all AYA age groups during the most recent decade (2007-2016), largely driven by thyroid cancer, which rose by approximately 3% annually among those aged 20 to 39 years and 4% among those aged 15 to 19 years. Incidence also increased in most age groups for several cancers linked to obesity, including kidney (3% annually across all age groups), uterine corpus (3% in the group aged 20-39 years), and colorectum (0.9%-1.5% in the group aged 20-39 years). Rates declined dramatically for melanoma in the group aged 15 to 29 years (4%-6% annually) but remained stable among those aged 30 to 39 years. Overall cancer mortality declined during 2008 through 2017 by 1% annually across age and sex groups, except for women aged 30 to 39 years, among whom rates were stable because of a flattening of declines in female breast cancer. Rates increased for cancers of the colorectum and uterine corpus in the group aged 30 to 39 years, mirroring incidence trends. Five-year relative survival in AYAs is similar across age groups for all cancers combined (range, 83%-86%) but varies widely for some cancers, such as acute lymphocytic leukemia (74% in the group aged 15-19 years vs 51% in the group aged 30-39 years) and brain tumors (77% vs 66%), reflecting differences in histologic subtype distribution and treatment. Progress in reducing cancer morbidity and mortality among AYAs could be addressed through more equitable access to health care, increasing clinical trial enrollment, expanding research, and greater alertness among clinicians and patients for early symptoms and signs of cancer. Further progress could be accelerated with increased disaggregation by age in research on surveillance, etiology, basic biology, and survivorship.

PURPOSE: This study aimed to determine the current percentage of United States (U.S.) assisted reproductive technology (ART) clinics offering sex selection via pre-implantation genetic screening (PGS) for non-medical purposes. METHODS: The authors conducted website review and telephone interview survey of 493 U.S. ART clinics performing in vitro fertilization (IVF) in 2017. Main outcome measures were pre-implantation genetic screening (PGS)/pre-implantation genetic diagnosis (PGD) practices and non-medical sex selection practices including family balancing. RESULTS: Of the 493 ART clinics in the USA, 482 clinics (97.8%) responded to our telephone interview survey. Among all U.S. ART clinics, 91.9% (n = 449) reported offering PGS and/or PGD. Furthermore, 476 clinics responded to survey questions about sex selection practices. Of those ART clinics, 72.7% (n = 346) reported offering sex selection. More specifically among those clinics offering sex selection, 93.6% (n = 324) reported performing sex selection for family balancing, and 81.2% (n = 281) reported performing for elective purposes (patient preference, regardless of rationale for the request). For couples without infertility, 83.5% (n = 289) of clinics offer sex selection for family balancing and 74.6% (n = 258) for non-specific elective reasons. CONCLUSIONS: The majority of U.S. ART clinics offer non-medical sex selection, a percentage that has increased substantially since last reported in 2006.

Objective To investigate the associations among underweight body mass index (BMI), pregnancy, and obstetric outcomes among women using assisted reproductive technology (ART). Design Retrospective cohort study using national data and log binomial regression. Setting Not applicable. Patient(s) Women undergoing IVF in the United States from 2008 to 2013. Intervention(s) None. Main Outcome Measure(s) Pregnancy outcomes (intrauterine pregnancy, live birth rates) per transfer, miscarriage rate per pregnancy, and low birth weight and preterm delivery rates among singleton and twin pregnancies. Result(s) For all fresh autologous in vitro fertilization (IVF) cycles in the United States from 2008 to 2013 (n = 494,097 cycles, n=402,742 transfers, n=180,855 pregnancies) reported to the national ART Surveillance System, compared with normal weight women, underweight women had a statistically significant decreased chance of intrauterine pregnancy (adjusted risk ratio [aRR] 0.97; 95% confidence interval [CI], 0.96–0.99) and live birth (aRR 0.95; 95% CI, 0.93–0.98) per transfer. Obese women also had a statistically decreased likelihood of both (aRR 0.94; 95% CI, 0.94–0.95; aRR 0.87; 95% CI, 0.86–0.88, respectively). Among cycles resulting in singleton pregnancy, both underweight and obese statuses were associated with increased risk of low birth weight (aRR 1.39; 95% CI, 1.25–1.54, aRR 1.26; 95% CI, 1.20–1.33, respectively) and preterm delivery (aRR 1.12; 95% CI, 1.01–1.23, aRR 1.42; 95% CI, 1.36–1.48, respectively). The association between underweight status and miscarriage was not statistically significant (aRR 1.04; 95% CI, 0.98–1.11). In contrast, obesity was associated with a statistically significantly increased miscarriage risk (aRR 1.23; 95% CI, 1.20–1.26). Conclusion(s) Among women undergoing IVF, prepregnancy BMI affects pregnancy and obstetric outcomes. Underweight status may have a limited impact on pregnancy and live-birth rates, but it is associated with increased preterm and low-birth-weight delivery risk. Obesity negatively impacts all ART and obstetric outcomes investigated.

Objective To determine factors associated with a positive patient experience (PPE) at fertility clinics. Design Cross-sectional study. Setting Not applicable. Patient(s) Female respondents to the FertilityIQ questionnaire ( www.fertilityiq.com ) reviewing the first or only U.S. clinic visited from July 2015 to July 2018. Intervention(s) None. Main Outcome Measure(s) PPE was defined as a score of 9 or 10 out of 10 on the question, “Would you recommend this fertility clinic to a best friend?” Examined predictors included demographics, payment details, infertility diagnoses and treatment, physician traits, and clinic operations and resources. Multiple imputation was used for missing variables. Logistic regression was used to calculate adjusted odds ratios for factors associated with PPE. Result(s) Of the 7,456 women included, 63.1% reported PPE. Pregnancy resulting from treatment was a predictor of PPE. In multivariable analysis, the strongest predictors of PPE were related to the patient-physician relationship (“feeling treated like a human rather than a number” and having a doctor with good communication skills and who set reasonable expectations). Multiple clinic-related factors were also independently associated with PPE, including satisfaction with billing, shorter wait times, and easy appointment scheduling. Conclusion(s) While pregnancy influences patients’ views of their fertility clinic experience, there are other modifiable patient, physician, and clinic factors associated with PPE. Clinics may be able to optimize patient experience and improve the quality of care that they provide by being cognizant of such factors.

PURPOSE: To explore associations between infertility treatment and hypertensive disorders of pregnancy. METHODS: We collated multi-year as well as multi-state data from a national representative survey examining the association between self-reported infertility treatment (i.e., medication, intrauterine insemination, or assisted reproductive technology) and hypertensive disorders of pregnancy (i.e., high blood pressure, pregnancy-induced hypertension (PIH), preeclampsia, and toxemia). Data were analyzed using logistic regression. A total of 21,884 women in the United States (U.S.), from the Centers for Disease Control and Prevention’s (CDC) Pregnancy Risk Assessment Monitoring System (PRAMS) survey (2009–2015), participated in the study. RESULTS: In our analysis, 12.91% women reported a history of infertility treatment and 15.19% reported a history of hypertensive disorder of pregnancy. Compared with women who had never had infertility treatment, women who reported infertility treatment had 1.18 (adjusted OR, 95% confidence interval (CI) 1.05, 1.33) higher odds of reporting hypertensive disorder of pregnancy. Neither types of infertility treatment nor proximity of treatment to pregnancy were independently associated with hypertensive disorder of pregnancy. CONCLUSIONS: Our results suggest that among U.S. women, the treatment of infertility may be associated with hypertension disorder of pregnancy regardless of type of treatment.

Objective Approximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI). We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes, fertility treatment, reproductive decisions, and counseling of women with fragile X-associated POI (FXPOI). Methods Semistructured interviews with 79 women with FXPOI were conducted by a single interviewer. FMR1 cytosine-guanine-guanine repeat size was determined from a blood, saliva, or buccal sample. Results The median age of POI onset for women in our study was 33 years. Seventy-two percent of the women had an FMR1 cytosine-guanine-guanine repeat length of 80 to 100. Mean length of time from symptom onset to POI diagnosis was 1.12 years, longer in women with a younger age of POI onset and shorter in women who knew they were carriers. After diagnosis, 52% of women never took hormone therapy, started it years after POI diagnosis, or stopped it before 45 years of age. Forty-nine percent of the women had infertility, but 75% had had at least one genetically related child. Obstetric outcomes were similar to the general population. Forty-six percent of women had a diagnosis of low bone mineral density or osteoporosis, and an additional 19% had never had a bone density assessment. Conclusions Women with FXPOI are at significant risk for delayed POI diagnosis and undertreatment with hormone therapy. Although approximately 50% of women had infertility, most were able to conceive at least one child and had no elevated risk of adverse obstetric outcomes.

Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55–200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40. A non-linear association with repeat size and risk for FXPOI has been seen in multiple studies women with a premutation: those with a mid-range of repeats are at highest risk (∼70–100 CGG repeats). Importantly, not all carriers with 70–100 repeats experience FXPOI. We investigated whether AGG interruptions, adjusted for repeat size, impacted age at secondary amenorrhea. We have reproductive history information and AGG interruption data on 262 premutation women: 164 had an established age at amenorrhea (AAA) (for some, age at onset of FXPOI) or menopause, 16 had a surgery involving the reproductive system such as a hysterectomy, and 82 women were still cycling at the last interview. Reproductive status was determined using self-report reproductive questionnaires and interviews with a reproductive endocrinologist. For each of these 262 women, FMR1 repeat size and number of AGG interruptions were determined. We confirmed the association of repeat size with AAA or menopause among women with a premutation. As expected, both premutation repeat size and the quadratic form of repeat size (i.e., squared term) were significant in a survival analysis model predicting AAA (p < 0.0001 for both variables). When number of AGG interruptions was added to the model, this variable was not significant (p = 0.59). Finally, we used a regression model based on the 164 women with established AAA to estimate the proportion of variance in AAA explained by repeat size and its squared term. Both terms were again highly significant (p < 0.0001 for both), but together only explained 13% of the variation in AAA. The non-linear association between AAA and FMR1 repeat size has been described in several studies. We have determined that AGG interruption pattern does not contribute to this association. Because only 13% of the variation is described using repeat size, it is clear that further research of FXPOI is needed to identify other factors that affect the risk for FXPOI.

Objective To examine the degree to which paternal variables of age, body mass index (BMI), and sperm parameters affect vitrified donor oocyte IVF outcomes. Previous studies examining the impact of male partner characteristics on in-vitro fertilization (IVF) have found conflicting results. Concerns are rising over the potential effects of paternal factors, such as age and obesity, on pregnancy and child health. Frozen donor oocyte IVF offers an ideal model to study these effects. Design Retrospective chart review. Setting Private fertility clinic. Patient(s) Nine hundred forty-nine recipients undergoing transfer of blastocyst embryo(s) from a vitrified oocyte donor bank between 2008-2015. Intervention(s) None. Main Outcome Measure(s) Implantation rate, clinical pregnancy rate, live birth rate, rate of low birth weight singleton infants (≤2500 g), and preterm deliveries (PTD) of singleton infants ( Results After adjusting for covariates known to affect oocyte donation cycle success, male age, BMI and sperm parameters were not associated with differences in IVF outcomes. There were higher PTD rates for men ≥51 years and BMI ≥35 kg/m2, however, these were not significant after adjustment. There were no differences in rates of low birth weight infants with men >35 years or BMI >25 kg/m2. Lastly, there were no differences in rates of PTD or low birth weight infants with abnormal sperm parameters. Conclusions Neither advancing male age, elevated BMI, nor poor sperm quality were associated with outcomes in frozen donor oocyte IVF cycles in this study. Intracytoplamic sperm injection and “oocyte quality” likely mitigate some of the effects of male variables on outcomes following cryopreserved oocyte donation.

The purpose of the study was to describe trends in and investigate variables associated with clinical pregnancy and live birth in autologous in vitro fertilization (IVF) cycles among women ≥40 years. We used autologous IVF cycle data from the National ART Surveillance System (NASS) for women ≥40 years at cycle start. We assessed trends in fresh and frozen cycles (n = 371,536) from 1996 to 2013. We reported perinatal outcomes and determined variables associated with clinical pregnancy and live birth in fresh cycles between 2007 and 2013. From 1996 to 2013, the total number of cycles in women ≥40 years increased from 8672 to 28,883 (p

Objective To determine the average number of family members diagnosed with a Fragile X Mental Retardation-1 ( FMR1 ) mutation after a proband receives the initial diagnosis of fragile X syndrome (FXS). Study design We reviewed pedigrees of families who had been evaluated at the Fragile X Syndrome Center at Emory University in Atlanta, Georgia. Through these pedigrees, we determined the number of additional family members diagnosed as FMR1 premutation carriers or with full mutation FXS after the initial diagnosis in each proband. Results The fragile X pedigree review identified 176 probands, including 108 males (61%) and 68 females (39%). A total of 785 family members were diagnosed with expanded fragile X alleles, including 278 males (35%) and 507 females (65%). These family members included 227 individuals with full mutation FXS (219 males and 8 females) and 558 premutation carriers (59 males and 499 females). After the initial diagnosis of a proband with FXS, on average at least 5 additional family members were diagnosed with an FMR1 mutation. Conclusion Our findings confirm that obtaining a detailed family history after diagnosis of a proband with FXS is likely to identify multiple family members with FMR1 mutations. It is important that the pediatrician or other health care provider making a diagnosis of FXS recognize the value of a detailed family history for timely diagnosis and treatment of additional individuals who may be FMR1 premutation carriers or have full mutation FXS.