Clinical Instructor, Obstetrics & Gynecology - Reproductive Endocrinology & Infertility
To compare chromosome testing of miscarriage specimens between traditional cytogenetic analysis and molecular karyotyping using single nucleotide polymorphism microarrays (SNP) and array comparative genomic hybridization (aCGH).Prospective blinded cohort study.University-based practice.Women undergoing dilation and curettage for first-trimester miscarriage between March 2014 and December 2015.None.Chromosome analysis from chorionic villi separated equally and submitted for cytogenetics, SNP microarray, and aCGH testing.Sixty samples were analyzed, of which 47 (78%) were chromosomally abnormal. A correct call was defined when a result was concordant with at least one other testing platform. The correct call rate was 85%, 93%, and 85% using cytogenetics, SNP array, and aCGH, respectively. We found a 33% overall discordance rate between results. Discordances were due to maternal cell contamination, balanced chromosome rearrangements, polyploidy, and placental mosaicism. Mosaicism was detected in 18% of all samples. Growth failure occurred in four samples sent to cytogenetics, of which three were chromosomally abnormal by molecular testing.This study demonstrates the many technical limitations of the three testing modalities. Our rates of maternal cell contamination were low, but it is important to note that this is a commonly reported limitation of cytogenetics. Given the similar overall performance of the three testing modalities, providers may choose a method based on individual availability and consideration of limitations as it applies to each clinical scenario. The unexpected high rate of placental mosaicism warrants further investigation.
View details for DOI 10.1016/j.fertnstert.2017.01.022
View details for Web of Science ID 000400459100034
View details for PubMedID 28283267
Studies have demonstrated high implantation rates after trophectoderm biopsy of day 5 expanded blastocysts. However, biopsy of cleavage stage embryos may adversely affect embryo development and implantation. No studies have assessed the utility of day 5 morulae and early blastocyst biopsy. This study sought to better understand these slower embryos' aneuploidy rates and implantation potential.This was a retrospective review of all autologous IVF cycles utilizing PGS at a single academic infertility center.The biopsy of day 5 morulae and early blastocysts provided 22 % additional euploid blastocysts available for fresh day 6 transfer compared to day 5 biopsy of only expanded blastocysts. Aneuploidy did correlate with embryo stage on day 5, even after controlling for maternal age, with 16 % of morulae and 35 % of blastocysts being euploid. The majority (83 %) of euploid morulae progressed to the blastocyst stage by day 6. Experience transferring slower developing embryos is limited, but preliminary pregnancy and implantation rates appear similar to euploid embryos biopsied as expanded blastocysts.The biopsy of all non-arrested embryos on day 5 provides genetic information for all blastocysts on day 6, increasing the pool of euploid blastocysts available for fresh transfer and avoiding the need to cryopreserve developmentally competent embryos without genetic information.
View details for DOI 10.1007/s10815-015-0475-5
View details for PubMedID 25921084
To determine if meaningful weight loss (≥10%) improved conception and live birth rates of overweight patients with infertility.A retrospective cohort study.Academic medical center.Overweight patients (body mass index ≥25 kg/m(2); n = 52) being treated for infertility and referred for weight loss counseling.Patients were given a "meaningful" weight loss goal of 10%. They were followed by an endocrinologist who provided diet and exercise recommendations, metabolic screening, and pharmacologic intervention when indicated.Pregnancy rate, live birth rate, weight loss.Thirty-two percent of the patients achieved meaningful weight loss. Patients achieving meaningful weight loss had significantly higher conception (88% vs. 54%) and live birth rates (71% vs. 37%) than those who did not.Weight loss improves live birth rates in overweight patients with infertility. Health care providers should incorporate weight loss counseling when caring for overweight patients who plan to conceive.
View details for DOI 10.1016/j.fertnstert.2014.01.036
View details for Web of Science ID 000335504600043
View details for PubMedID 24581574
Answer questions and earn CME/CNE Breakthroughs in cancer diagnosis and treatment have led to dramatic improvements in survival and the need to focus on survivorship issues. Chemotherapy and radiotherapy can be gonadotoxic, resulting in impaired fertility. Techniques to help cancer survivors reproduce have been improving over the past decade. Discussion of the changes to a patient's reproductive health after cancer treatment is essential to providing comprehensive quality care. The purpose of this review is to aid in pre- and posttreatment counseling, focusing on fertility preservation and other strategies that may mitigate risks to the patient's reproductive, sexual, and overall health. CA Cancer J Clin 2014;64:118-134. (©) 2013 American Cancer Society.
View details for DOI 10.3322/caac.21205
View details for PubMedID 24604743