Outcomes of preimplantation genetic diagnosis in neurofibromatosis type 1

Objective To examine the effect of patient and facility level factors on the success of preimplantation genetic diagnosis (PGD) in patients with neurofibromatosis 1 (NF1). Design Retrospective review. Setting Large PGD reference laboratory. Patient(s) All patients with NF1 referred from June 2004 to May 2013. Intervention(s) None. Main Outcome Measure(s) Embryos' NF1 mutation status and live birth rates. Result(s) Seventy-seven couples underwent 156 PGD cycles during the study period. The average maternal age at the time of embryo biopsy was 33.2 years. The majority of embryos had a day 3 single blastomere biopsy without aneuploidy screening. A diagnosis was obtained for 80% of biopsied embryos; 20% of biopsies were nondiagnostic due to technical failures. Diagnosis was more often obtained for embryos of parents with familial disease and for embryos biopsied at centers that referred multiple NF1 cases. Among diagnosed embryos, 483/1,060 (46%) were unaffected by the parental NF1 mutation. Twenty-two (14%) of the 156 cycles had a confirmed live birth; if the observed success rate is applied to cycles with unknown outcomes, 33/156 (21%) cycles are expected to have resulted in live birth. In multivariate logistic regression, having a live birth was significantly associated with having more unaffected embryos available for transfer (odds ratio 1.33 per additional embryo, 95% confidence interval 1.02–1.72). Conclusion(s) Advances in biopsy and diagnostic techniques which increase the number of unaffected embryos identified may improve live birth rates for patients with NF1. Clinicians should counsel patients about their fertility and reproductive options early, with the use of disease-specific data, to set appropriate expectations for the PGD process

Pregnancy complications in women with rare tumor suppressor syndromes affecting central and peripheral nervous system

Neurofibromatosis type 2 (NF2), tuberous sclerosis (TS), and von Hippel-Lindau disease (VHL) are tumor suppressor syndromes characterized by multiple benign tumors of the peripheral and central nervous system.1 These tumors may lead to an enhanced obstetric risk in female patients, but it is currently unknown whether women with NF2, TS, or VHL experience increased rates of adverse pregnancy outcomes. Current data consist primarily of case series, even the largest of which may lack power because of the small sample sizes

The Fourteenth Data Release of the Sloan Digital Sky Survey: First Spectroscopic Data from the extended Baryon Oscillation Spectroscopic Survey and from the second phase of the Apache Point Observatory Galactic Evolution Experiment

The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in operation since July 2014. This paper describes the second data release from this phase, and the fourteenth from SDSS overall (making this, Data Release Fourteen or DR14). This release makes public data taken by SDSS-IV in its first two years of operation (July 2014-2016). Like all previous SDSS releases, DR14 is cumulative, including the most recent reductions and calibrations of all data taken by SDSS since the first phase began operations in 2000. New in DR14 is the first public release of data from the extended Baryon Oscillation Spectroscopic Survey (eBOSS); the first data from the second phase of the Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2), including stellar parameter estimates from an innovative data driven machine learning algorithm known as "The Cannon"; and almost twice as many data cubes from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous release (N = 2812 in total). This paper describes the location and format of the publicly available data from SDSS-IV surveys. We provide references to the important technical papers describing how these data have been taken (both targeting and observation details) and processed for scientific use. The SDSS website (www.sdss.org) has been updated for this release, and provides links to data downloads, as well as tutorials and examples of data use. SDSS-IV is planning to continue to collect astronomical data until 2020, and will be followed by SDSS-V.Comment: SDSS-IV collaboration alphabetical author data release paper. DR14 happened on 31st July 2017. 19 pages, 5 figures. Accepted by ApJS on 28th Nov 2017 (this is the "post-print" and "post-proofs" version; minor corrections only from v1, and most of errors found in proofs corrected

Placental weight in relation to maternal and paternal preconception and prenatal urinary phthalate metabolite concentrations among subfertile couples.

Phthalates are known reproductive toxicants that reduce placental and fetal weight in experimental animal studies. Although phthalate exposure has been associated with reduced birth weight in humans, there is limited epidemiologic evidence on whether the placenta is also affected. To assess whether maternal and paternal preconception and prenatal urinary phthalate metabolite concentrations are associated with placental weight, and the birth weight: placental weight (BW:PW) ratio among singletons conceived by subfertile couples. The present analysis included 132 mothers and 68 fathers, and their corresponding 132 singletons recruited in an academic hospital fertility center in Boston, Massachusetts. Urinary concentrations of eleven phthalate metabolites were measured and averaged in multiple paternal (n = 196) and maternal (n = 596) preconception, and maternal prenatal (n = 328) samples. Placental weight and birth weight (grams) were abstracted from delivery records, and the BW:PW was calculated. We estimated the association of natural log-phthalate metabolite concentrations across windows of exposure with placental weight and the BW:PW ratio using multivariable linear regression models, adjusting for a priori covariates. In adjusted models, each log-unit increase in paternal urinary concentrations of the sum of di-(2-ethylhexyl) phthalate (ΣDEHP) metabolites was associated with a 24 g (95% CI: -48, -1) decrease in placental weight. We also observed a significant negative association between maternal preconception monoethyl phthalate (MEP) metabolite concentrations and the BW:PW ratio (β = -0.26; 95%CI: -0.49, -0.04). Additionally, each log-unit increase in prenatal MEP metabolite concentrations was associated with a 24 g (95% CI: -41, -7) decrease in placental weight. Our results suggest that certain paternal and maternal urinary phthalate metabolites may affect placental weight and the BW:PW ratio. However, given the small sample size within a subfertile cohort and the novelty of these findings, more studies are needed to confirm the present results

Association of Urinary Phthalate and Phthalate Replacement Metabolite Concentrations with Serum Lipid Biomarker Levels among Pregnant Women Attending a Fertility Center

We examined whether urinary concentrations of phthalate and phthalate replacement metabolites were associated with lipid biomarker levels among pregnant women. This cross-sectional study included 175 women who enrolled in the Environment and Reproductive Health (EARTH) Study (2005–2017). We used linear regression models to assess the relationship between urinary phthalates and lipid biomarkers [triglycerides, total cholesterol, high density lipoprotein (HDL), non-HDL, and low-density lipoprotein (LDL) cholesterol] levels while adjusting for confounders. Pregnant women in the highest quartile of urinary mono(2-ethyl-5-carboxypentyl) phthalate (MECPP) had, overall, 14% [31 (95% CI = 6.56) mg/dL], 21% [33 (95% CI = 9.57) mg/dL] and 25% [30 (95% CI = 8.53) mg/dL] higher serum total, non-HDL and LDL cholesterol, respectively, compared to women in the lowest quartile of MECPP. Similar positive associations were found for urinary concentrations of other metabolites of di(2-ethylhexyl) phthalate, mono(2-ethylhexyl) phthalate, and mono(2-ethyl-5-oxohexyl) phthalate. Pregnant women with urinary mono-n-butyl phthalate (MBP) in the highest quartile had higher triglycerides and non-HDL cholesterol compared to women with MBP in the lowest quartile. Women with detectable concentrations of two phthalate replacement metabolites had lower HDL cholesterol compared to women with non-detectable concentrations. Gestational urinary concentrations of certain phthalate and phthalate replacement metabolites were associated with lipid levels among these women