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2.
Fertil Steril ; 120(5): 957-966, 2023 11.
Article in English | MEDLINE | ID: mdl-37532168

ABSTRACT

OBJECTIVE: To understand the clinical risks associated with the transfer of embryos classified as a mosaic using preimplantation genetic testing for aneuploidy. DESIGN: Analysis of data collected between 2017 and 2023. SETTING: Multicenter. PATIENTS: Patients of infertility treatment. INTERVENTION: Comparison of pregnancies resulting from embryos classified as euploid or mosaic using the 20%-80% interval in chromosomal intermediate copy numbers to define a mosaic result. MAIN OUTCOME MEASURES: Rates of spontaneous abortion, birth weight, length of gestation, incidence of birth defects, and chromosomal status during gestation. RESULTS: Implanted euploid embryos had a significantly lower risk of spontaneous abortion compared with mosaic embryos (8.9% [n = 8,672; 95% confidence interval {CI95} 8.3, 9.5] vs. 22.2% [n = 914; CI95 19.6, 25.0]). Embryos with mosaicism affecting whole chromosomes (not segmental) had the highest risk of spontaneous abortion (27.6% [n = 395; CI95 23.2, 32.3]). Infants born from euploid, mosaic, and whole chromosome mosaic embryos had average birth weights and lengths of gestation that were not statistically different (3,118 g and 267 days [n = 488; CI95 3,067, 3,169, and 266, 268], 3052 g and 265 days [n = 488; CI95 2,993, 3,112, and 264,267], 3,159 g and 268 days [n = 194; CI95 3,070, 3,249, and 266,270], respectively). Out of 488 infants from mosaic embryo transfers (ETs), one had overt gross abnormalities as defined by the Centers for Disease Control and Prevention. Most prenatal tests performed on pregnancies from mosaic ETs had normal results, and only three pregnancies produced prenatal test results reflecting the mosaicism detected at the embryonic stage (3 out of 250, 1.2%; CI95 0.25, 3.5). CONCLUSION: Although embryos classified as mosaic experience higher rates of miscarriage than euploid embryos (with a particularly high frequency shortly after implantation), infants born of mosaic ETs are similar to infants of euploid ETs. Prenatal testing indicates that mosaicism resolves during most pregnancies, although this process is not perfectly efficient. In a small percentage of cases, the mosaicism persists through gestation. These findings can serve as risk-benefit considerations for mosaic ETs in the fertility clinic.


Subject(s)
Abortion, Spontaneous , Preimplantation Diagnosis , Pregnancy , Female , Infant, Newborn , Humans , Abortion, Spontaneous/etiology , Abortion, Spontaneous/genetics , Preimplantation Diagnosis/methods , Fertilization in Vitro/adverse effects , Fertilization in Vitro/methods , Blastocyst , Genetic Testing/methods , Aneuploidy , Mosaicism , Chromosomes
3.
J Clin Endocrinol Metab ; 108(9): 2330-2335, 2023 08 18.
Article in English | MEDLINE | ID: mdl-36869713

ABSTRACT

CONTEXT: A genetic etiology accounts for the majority of unexplained primary ovarian insufficiency (POI). OBJECTIVE: We hypothesized a genetic cause of POI for a sister pair with primary amenorrhea. DESIGN: The study was an observational study. Subjects were recruited at an academic institution. SUBJECTS: Subjects were sisters with primary amenorrhea caused by POI and their parents. Additional subjects included women with POI analyzed previously (n = 291). Controls were recruited for health in old age or were from the 1000 Genomes Project (total n = 233). INTERVENTION: We performed whole exome sequencing, and data were analyzed using the Pedigree Variant Annotation, Analysis and Search Tool, which identifies genes harboring pathogenic variants in families. We performed functional studies in a Drosophila melanogaster model. MAIN OUTCOME: Genes with rare pathogenic variants were identified. RESULTS: The sisters carried compound heterozygous variants in DIS3. The sisters did not carry additional rare variants that were absent in publicly available datasets. DIS3 knockdown in the ovary of D. melanogaster resulted in lack of oocyte production and severe infertility. CONCLUSIONS: Compound heterozygous variants in highly conserved amino acids in DIS3 and failure of oocyte production in a functional model suggest that mutations in DIS3 cause POI. DIS3 is a 3' to 5' exoribonuclease that is the catalytic subunit of the exosome involved in RNA degradation and metabolism in the nucleus. The findings provide further evidence that mutations in genes important for transcription and translation are associated with POI.


Subject(s)
Primary Ovarian Insufficiency , Animals , Humans , Female , Primary Ovarian Insufficiency/genetics , Primary Ovarian Insufficiency/pathology , Drosophila melanogaster/genetics , Amenorrhea/genetics , Oogenesis/genetics , Exosome Multienzyme Ribonuclease Complex
4.
Curr Opin Obstet Gynecol ; 34(4): 179-183, 2022 08 01.
Article in English | MEDLINE | ID: mdl-35895958

ABSTRACT

PURPOSE OF REVIEW: To discuss existing literature and current use of intravaginal culture (IVC) as an option for patients seeking fertility therapies. RECENT FINDINGS: IVC is the combination of oocytes and sperm with culture media in a sealed device that is placed vaginally and left in place while fertilization and early embryo development occurs. Studies show that IVC is safe, well-tolerated, and has similar outcomes in patients as compared to standard in vitro fertilization techniques (conventional insemination and/or intracytoplasmic sperm injection). The new device, INVOcell, while recommended by the FDA for minimal stimulation and up to 72 h of culture and seven oocytes, has been used successfully with more oocytes and for 5 days (until blastocyst stage for transfer) in many centers. Live birth rates and neonatal outcomes are reassuring. SUMMARY: Infertility is a common disease and the vast majority of patients globally will not seek care. IVC may improve access to care, lower costs, provide an alternative for patients who have ethical or religious concerns, and be an increasingly utilized option for those seeking ART therapies. It may also ease workflow burdens in labs where space, equipment, or highly trained lab staff are scarce. More data is warranted to track cumulative outcomes and optimize the ideal patient candidate, but it is a viable alternative in the armamentarium of fertility therapies.


Subject(s)
Fertilization in Vitro , Semen , Blastocyst , Female , Fertilization in Vitro/methods , Health Services Accessibility , Humans , Male , Pregnancy , Pregnancy Rate , Retrospective Studies , Sperm Injections, Intracytoplasmic
5.
J Clin Endocrinol Metab ; 107(3): 685-714, 2022 02 17.
Article in English | MEDLINE | ID: mdl-34718612

ABSTRACT

CONTEXT: A genetic etiology likely accounts for the majority of unexplained primary ovarian insufficiency (POI). OBJECTIVE: We hypothesized that heterozygous rare variants and variants in enhanced categories are associated with POI. DESIGN: The study was an observational study. SETTING: Subjects were recruited at academic institutions. PATIENTS: Subjects from Boston (n = 98), the National Institutes of Health and Washington University (n = 98), Pittsburgh (n = 20), Italy (n = 43), and France (n = 32) were diagnosed with POI (amenorrhea with an elevated follicle-stimulating hormone level). Controls were recruited for health in old age or were from the 1000 Genomes Project (total n = 233). INTERVENTION: We performed whole exome sequencing (WES), and data were analyzed using a rare variant scoring method and a Bayes factor-based framework for identifying genes harboring pathogenic variants. We performed functional studies on identified genes that were not previously implicated in POI in a D. melanogaster model. MAIN OUTCOME: Genes with rare pathogenic variants and gene sets with increased burden of deleterious variants were identified. RESULTS: Candidate heterozygous variants were identified in known genes and genes with functional evidence. Gene sets with increased burden of deleterious alleles included the categories transcription and translation, DNA damage and repair, meiosis and cell division. Variants were found in novel genes from the enhanced categories. Functional evidence supported 7 new risk genes for POI (USP36, VCP, WDR33, PIWIL3, NPM2, LLGL1, and BOD1L1). CONCLUSIONS: Candidate causative variants were identified through WES in women with POI. Aggregating clinical data and genetic risk with a categorical approach may expand the genetic architecture of heterozygous rare gene variants causing risk for POI.


Subject(s)
Primary Ovarian Insufficiency/genetics , Adolescent , Adult , Case-Control Studies , DNA Mutational Analysis , Female , Heterozygote , Humans , Mutation , Exome Sequencing , Young Adult
6.
F S Rep ; 2(1): 9-15, 2021 Mar.
Article in English | MEDLINE | ID: mdl-34223267

ABSTRACT

OBJECTIVE: To describe the current practice indications, methodology, and outcomes from a real-world experience of intravaginal culture (IVC) using INVOCELL. DESIGN: A descriptive study outlining real-world experience with INVOCELL that addresses patient selection, ovarian stimulation, embryology laboratory practices, and outcomes. SETTING: Five fertility centers in Missouri, Texas, North Carolina, South Carolina, and Virginia. PATIENTS: Four hundred sixty-three patients undergoing 526 cycles. INTERVENTION: IVC using INVOCELL. MAIN OUTCOME MEASURES: Cumulative pregnancy rate and live births. Secondary outcomes of interest included percent good quality embryos. RESULTS: IVC with INVOCELL was primarily used in women <38 years with anti-Mullerian hormone level >0.8 ng/mL. The mean numbers of retrieved oocytes ranged from 9.2 to 16. Mean numbers of oocytes and sperm-injected oocytes loaded per INVOCELL ranged from a mean of 6.4-9.5 with a reported maximum of 34 oocytes loaded into the device. Most (95%) of the embryos were transferred on day 5. The mean blastocyst recovery per oocyte loaded into the device ranged from 19% to 34%; mean cumulative live birth plus ongoing pregnancy rates ranged from 29% to 53% per cycle start and 40% to 61% per transfer. CONCLUSIONS: This study of IVC using INVOCELL as an alternative model for infertility treatment confirms its utility as a viable alternative to standard incubator-based in vitro fertilization. The technology is compatible within the current framework of practice patterns and, when appropriately used, results in acceptable blastocyst recovery and live birth rates. Further use of INVOCELL in other clinical situations is warranted.

8.
Reprod Biomed Online ; 42(6): 1203-1210, 2021 06.
Article in English | MEDLINE | ID: mdl-33931373

ABSTRACT

RESEARCH QUESTION: How do anti-Müllerian hormone (AMH) concentrations in women with and without arthritis compare? Is there an association between AMH and arthritis drug regimen? DESIGN: In this prospective cohort study, AMH was measured at two time points (T0 and T1) in 129 premenopausal women with arthritis. AMH at T0 was compared with that from a bank of serum samples from 198 premenopausal women without arthritis. Primary outcomes were: (i) diminished ovarian reserve (DOR) (AMH <1.1 ng/ml) and (ii) annual rate of AMH decrease. Univariate, multivariable and Firth logistic regression identified variables associated with annual AMH decrease in excess of the 75th percentile. RESULTS: Median time between T0 and T1 was 1.72 years. At time T0, median age-adjusted AMH in women with arthritis was significantly lower than that of women without arthritis (median 2.21 ng/ml versus 2.78 ng/ml; P = 0.009). Women with arthritis at highest risk for DOR had a history of tubal sterilization or were over the age of 35. Those with highest odds of having an annual AMH decrease in excess of the 75th percentile (over 28% decrease per year) were those: over the age of 35 or who sought care for infertility. Women with arthritis taking methotrexate alone (OR 0.08, 95% CI 0.01-0.67) or methotrexate plus tumour necrosis factor-alpha antagonists (OR 0.13, 95% CI 0.02-0.89) were less likely to be in the highest quartile of annual AMH decrease than women with arthritis not taking medication. CONCLUSIONS: Women with arthritis had lower AMH than healthy controls. Long-term methotrexate use was not associated with an annual AMH decrease.


Subject(s)
Anti-Mullerian Hormone/blood , Antirheumatic Agents/adverse effects , Arthritis/blood , Methotrexate/adverse effects , Ovarian Reserve/drug effects , Adult , Arthritis/drug therapy , Case-Control Studies , Female , Humans , Prospective Studies , Young Adult
9.
Fertil Steril ; 116(2): 575-582, 2021 08.
Article in English | MEDLINE | ID: mdl-33812650

ABSTRACT

OBJECTIVE: To evaluate the diagnostic performance of the antimüllerian hormone (AMH) level determined using the Access AMH assay for predicting poor ovarian response (POR) defined as ≤4 oocytes retrieved, including the validation of the predefined AMH cutoff of 0.93 ng/mL in both serum and plasma. DESIGN: Prospective cohort study. SETTING: Fifteen private and academic fertility centers (14 in the United States and 1 in Canada). PATIENT(S): Women aged 21-45 years planning controlled ovarian stimulation for in vitro fertilization. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Number of oocytes retrieved, categorized as POR and normal-to-high ovarian response (non-POR). The correlation of AMH level and antral follicle count. RESULT(S): Data were available for 472 participants who completed the study (74 with POR and 398 non-POR). The mean AMH serum level among those with POR was 0.99 ng/mL (median 0.76 ng/mL) compared with 2.83 ng/mL (median 2.36 ng/mL) among the normal-to-high responders. For confirmation of the 0.93 ng/mL AMH level cutoff as a predictor of POR, a receiver operating characteristic analysis gave an area under the curve of 0.852, with corresponding sensitivity and specificity of 63.5% and 89.2%, respectively. The associated positive predictive value was 52.2% and the negative predictive value was 92.9%. The AMH plasma values demonstrated a strong correlation with AMH serum values with an r value = 0.9980. The previously established AMH cutoff of 1.77 ng/mL for antral follicle count >15 resulted in a sensitivity of 83.8% (95% confidence interval [CI] 77.7-88.5) and a specificity of 59.9% (95% CI 54.2-65.4). CONCLUSION(S): This study validated the previously established AMH cut-point for the prediction of POR. Because this cut-point may vary depending on the assay used, the specific AMH assay should be reported in the literature whenever possible.


Subject(s)
Anti-Mullerian Hormone/blood , Oocyte Retrieval , Ovulation Induction , Adult , Female , Fertilization in Vitro , Humans , Middle Aged , Predictive Value of Tests , Prospective Studies , Young Adult
11.
PLoS One ; 10(5): e0127335, 2015.
Article in English | MEDLINE | ID: mdl-26010087

ABSTRACT

Fertility is important to women and men with cancer. While options for fertility preservation (FP) are available, knowledge regarding the medical application of FP is lacking. Therefore we examined FP practices for cancer patients among reproductive endocrinologists (REs). A 36 item survey was sent to board-certified REs. 98% of respondents reported counseling women with cancer about FP options. Oocyte and embryo cryopreservation were universally offered by these providers, but variability was noted in reported management of these cases-particularly for women with breast cancer. 86% of the respondents reported using letrozole during controlled ovarian stimulation (COS) in patients with estrogen receptor positive (ER+) breast cancer to minimize patient exposure to estrogen. 49% of respondents who reported using letrozole in COS for patients with ER+ breast cancer reported that they would also use letrozole in COS for women with ER negative breast cancer. Variability was also noted in the management of FP for men with cancer. 83% of participants reported counseling men about sperm banking with 22% recommending against banking for men previously exposed to chemotherapy. Overall, 79% of respondents reported knowledge of American Society for Clinical Oncology FP guidelines-knowledge that was associated with providers offering gonadal tissue cryopreservation (RR 1.82, 95% CI 1.14-2.90). These findings demonstrate that RE management of FP in cancer patients varies. Although some variability may be dictated by local resources, standardization of FP practices and communication with treating oncologists may help ensure consistent recommendations and outcomes for patients seeking FP.


Subject(s)
Fertility Preservation , Neoplasms/complications , Contraception , Cryopreservation , Demography , Female , Humans , Male , Menstrual Cycle , Middle Aged , Ovary/pathology , Ovulation Induction , Reproductive Techniques, Assisted
12.
J Reprod Med ; 60(3-4): 155-9, 2015.
Article in English | MEDLINE | ID: mdl-25898479

ABSTRACT

OBJECTIVE: To determine the effect of short-term combined oral contraceptive (OCP) use on antral follicle count (AFC) in obese and nonobese women with infertility. STUDY DESIGN: A retrospective review of women who had an AFC (sum of 2-10 mm bilateral ovarian follicles on basal follicular phase ultrasound) measured before and after short-term OCP use between the years 2005 and 2010. These were women who had a baseline AFC measurement during an unsuccessful controlled ovarian hyperstimulation/intrauterine insemination who were then placed on OCPs prior to an in vitro fertilization (IVF) cycle that included a subsequent AFC measurement at baseline. RESULTS: A total of 57 IVF cycles met criteria for inclusion in the study. AFC was not impacted by OCP use in the nonobese cohort (BMI < 30). Baseline AFC in obese women (BMI ≥ 30), however, increased after OCP use (18 ± 6 vs. 28 ± 9, p = 0.002). CONCLUSION: Use of suppressive medications like OCPs in obese women increases AFC during IVF, potentially by AFC cohort synchrony. This observation warrants consideration when using AFC to predict gonadotropin/ART response as well as future prospective research to further elucidate potential etiologies.


Subject(s)
Contraceptives, Oral, Hormonal/administration & dosage , Obesity/complications , Ovarian Follicle/cytology , Adult , Cell Count , Cohort Studies , Female , Fertilization in Vitro , Humans , Retrospective Studies
13.
PLoS One ; 10(1): e0116057, 2015.
Article in English | MEDLINE | ID: mdl-25629726

ABSTRACT

OBJECTIVE: Endocrine-disrupting chemicals (EDCs) adversely affect human health. Our objective was to determine the association of EDC exposure with earlier age of menopause. METHODS: Cross-sectional survey using National Health and Nutrition Examination Survey (NHANES) data from 1999 to 2008 (n = 31,575 females). Eligible participants included: menopausal women >30 years of age; not currently pregnant, breastfeeding, using hormonal contraception; no history of bilateral oophorectomy or hysterectomy. Exposures, defined by serum lipid and urine creatinine-adjusted measures of EDCs, data were analyzed: > 90th percentile of the EDC distribution among all women, log-transformed EDC level, and decile of EDC level. Multi linear regression models considered complex survey design characteristics and adjusted for age, race/ethnicity, smoking, body mass index. EDCs were stratified into long (>1 year), short, and unknown half-lives; principle analyses were performed on those with long half-lives as well as phthalates, known reproductive toxicants. Secondary analysis determined whether the odds of being menopausal increased with EDC exposure among women aged 45-55 years. FINDINGS: This analysis examined 111 EDCs and focused on known reproductive toxicants or chemicals with half-lives >1 year. Women with high levels of ß-hexachlorocyclohexane, mirex, p,p'-DDE, 1,2,3,4,6,7,8-heptachlorodibenzofuran, mono-(2-ethyl-5-hydroxyhexyl) and mono-(2-ethyl-5-oxohexyl) phthalate, polychlorinated biphenyl congeners -70, -99, -105, -118, -138, -153, -156, -170, and -183 had mean ages of menopause 1.9 to 3.8 years earlier than women with lower levels of these chemicals. EDC-exposed women were up to 6 times more likely to be menopausal than non-exposed women. CONCLUSIONS: This study of a representative sample of US women documents an association between EDCs and earlier age at menopause. We identified 15 EDCs that warrant closer evaluation because of their persistence and potential detrimental effects on ovarian function. Earlier menopause can alter the quantity and quality of a woman's life and has profound implications for fertility, human reproduction, and our global society.


Subject(s)
Endocrine Disruptors/adverse effects , Environmental Pollutants/adverse effects , Menopause, Premature , Organic Chemicals/adverse effects , Public Health Surveillance , Adult , Aged , Cross-Sectional Studies , Databases, Factual , Female , Humans , Middle Aged , Reproduction/drug effects , Risk Factors , United States/epidemiology
14.
Eur J Obstet Gynecol Reprod Biol ; 170(1): 177-82, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23870186

ABSTRACT

OBJECTIVE: Sperm banking is an effective method to preserve fertility, but is not universally offered to males facing gonadotoxic treatment in the United States. We compared the disposition and semen parameters of cryopreserved sperm from individuals referred for sperm banking secondary to a cancer diagnosis to those of sperm from men banking for infertility reasons. STUDY DESIGN: We performed a retrospective cohort study that reviewed 1118 records from males who presented to bank sperm at Washington University between 1991 and 2010. We collected and analyzed demographics, semen parameters, and disposition of banked sperm. RESULTS: Four hundred and twenty-three men with cancer and 348 banking for infertility reasons attempted sperm cryopreservation in our unit during the specified time period. The most prevalent cancers in our cohort were testicular (32%), lymphoma (25%), and leukemia (11%). Patients with leukemia had the lowest pre-thaw counts and motility. Most cancer patients (57%) who banked elected to use, transfer to another facility, or keep their specimens in storage. The remaining samples were discarded electively (34%) or following death (8%). Overall semen parameters were similar between the cancer and infertility groups, but demographics, ability to bank a sample, azoospermia rates, length of storage, current banking status, and use of banked sperm differed significantly between the two groups. CONCLUSIONS: The majority of cancer patients who banked survived their cancer and chose to continue storage of banked samples. Cancer patients were more likely than infertility patients to use or continue storage of banked samples. Our study provides evidence that sperm banking is a utilized modality of fertility preservation in patients with a myriad of cancer diagnoses and should be offered to all men facing gonadotoxic therapies. Further work is needed to determine where disparities in access to sperm banking exist to improve the potential for future fertility in these males.


Subject(s)
Cryopreservation/statistics & numerical data , Fertility Preservation/statistics & numerical data , Semen Preservation/statistics & numerical data , Sperm Banks/statistics & numerical data , Spermatozoa , Adult , Humans , Infertility , Male , Retrospective Studies , Semen Analysis , Young Adult
15.
Fertil Steril ; 97(1): 88-94, 2012 Jan.
Article in English | MEDLINE | ID: mdl-22088209

ABSTRACT

OBJECTIVE: To study and describe the use of social networking websites among Society for Assisted Reproductive Technology (SART) member clinics. DESIGN: Cross-sectional study. SETTING: University-based practice. PATIENT(S): Not applicable. INTERVENTION(S): Not applicable. MAIN OUTCOME MEASURE(S): Prevalence of social networking websites among SART member clinics and evaluation of content, volume, and location (i.e., mandated state, region) using multivariate regression analysis. RESULT(S): A total of 384 SART-registered clinics and 1,382 social networking posts were evaluated. Of the clinics, 96% had a website and 30% linked to a social networking website. The majority of clinics (89%) with social networking websites were affiliated with nonacademic centers. Social networking posts mostly provided information (31%) and/or advertising (28%), and the remaining offered support (19%) or were irrelevant (17%) to the target audience. Only 5% of posts involved patients requesting information. Clinic volume correlated with the presence of a clinic website and a social networking website. CONCLUSION(S): Almost all SART member clinics have a website. Nearly one-third of these clinics host a social networking website such as Facebook, Twitter, and/or a blog. Large-volume clinics commonly host social networking websites. These sites provide new ways to communicate with patients, but clinics should maintain policies on the incorporation of social networks into practice.


Subject(s)
Blogging/trends , Fertilization in Vitro/psychology , Infertility/psychology , Information Dissemination/methods , Marketing of Health Services/trends , Social Media/trends , Adolescent , Adult , Ambulatory Care Facilities/trends , Female , Health Education/methods , Health Education/trends , Humans , Internet/trends , Male , Pregnancy , United States , Young Adult
16.
Fertil Steril ; 96(5): 1100-6, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21944928

ABSTRACT

OBJECTIVE: To determine whether fetal size differences exist between matched fertile and infertile women and among women with infertility achieving pregnancy through various treatment modalities. DESIGN: Retrospective cohort study with propensity score analysis. SETTING: Tertiary care center and affiliated community hospitals. PATIENT(S): 1,246 fertile and 461 infertile healthy women with singleton livebirths over a 10-year period. INTERVENTION(S): Infertile women conceiving without medical assistance, with ovulation induction, or with in vitro fertilization. MAIN OUTCOME MEASURE(S): Birthweight; secondary outcomes included crown-rump length, second-trimester estimated fetal weight, and incidence of low birth weight and preterm delivery. RESULT(S): Compared with matched fertile women, infertile women had smaller neonates at birth (3,375 ± 21 vs. 3,231 ± 21 g) and more low-birth-weight infants (relative risk = 1.68, 95% confidence interval, 1.06, 2.67). Neonates conceived via ovulation induction were the smallest among the infertility subgroups compared with the neonates of fertile women (3,092 ± 46 vs. 3,397 ± 44 g). First-trimester fetal size was smaller in infertile versus fertile women (crown-rump length 7.9 ± 0.1 vs. 8.5 ± 0.1 mm). Within the infertility subgroups, no differences in fetal or neonatal size were found. CONCLUSION(S): The inherent pathologic processes associated with infertility may have a larger impact on fetal growth than infertility therapies.


Subject(s)
Fetal Development , Fetal Growth Retardation/etiology , Infertility, Female/therapy , Pregnancy Outcome , Reproductive Techniques, Assisted/adverse effects , Adult , Birth Weight , Crown-Rump Length , Female , Fetal Growth Retardation/physiopathology , Fetal Weight , Gestational Age , Humans , Infant, Low Birth Weight , Infant, Newborn , Infant, Premature , Infertility, Female/physiopathology , Linear Models , Missouri , Pregnancy , Pregnancy Trimester, First , Pregnancy Trimester, Second , Propensity Score , Retrospective Studies , Risk Assessment , Risk Factors
17.
J Pediatr Adolesc Gynecol ; 24(3): 176-80, 2011 Jun.
Article in English | MEDLINE | ID: mdl-21751454

ABSTRACT

BACKGROUND: Mature cystic teratomas (MCTs) are the most common ovarian neoplastic lesions found in adolescents. MCTs are usually asymptomatic and are often discovered incidentally on exam or imaging. The recurrence rate of MCTs following cystectomy is 3-4% and incidence of malignant transformation is estimated to be 0.17-2%. Given the accuracy with which MCTs can be diagnosed preoperatively studies suggest that these lesions can be treated surgically using laparoscopic techniques. The management of MCTs in the adolescent population poses unique challenges given the potential impact on sexual development and fertility. CASE: A 17-year-old female was found to have bilateral adnexal masses consistent in appearance with MCTs on computed tomography after a motor vehicle accident. She underwent exploratory laparotomy with pathology confirming the presence of bilateral ovarian MCTs. Three years later she returned to the office with occasional abdominopelvic pain. Ultrasound revealed bilateral complex cysts suggestive of recurrent MCTs. She was expectantly managed with serial ultrasounds and after 24 months, slow but visible growth of the MCTs was confirmed. The patient is now 22 years old and asymptomatic. What is the most appropriate management? SUMMARY AND CONCLUSION: The risks of expectant management in women like the one presented are small. This suggests that although the traditional treatment for MCTs is laparoscopic ovarian cystectomy, in children and adolescents with MCTs we should consider close follow-up without intervention to preserve ovarian function and future fertility.


Subject(s)
Dermoid Cyst/therapy , Ovarian Neoplasms/therapy , Watchful Waiting , Adolescent , Dermoid Cyst/diagnosis , Female , Humans , Ovarian Neoplasms/diagnosis , Young Adult
18.
Fertil Steril ; 95(6): 1890-7, 2011 May.
Article in English | MEDLINE | ID: mdl-20188353

ABSTRACT

OBJECTIVE: To articulate the need for a new approach to primary ovarian insufficiency. The condition, also known as premature menopause or premature ovarian failure, is defined by the presence of menopausal-level serum gonadotropins in association with irregular menses in adolescent girls or women younger than 40 years. It can be iatrogenic as related to cancer therapy or may arise spontaneously, either alone or as part of a host of ultrarare syndromes. In a large percentage of spontaneous cases no pathogenic mechanism can be identified. DESIGN: Literature review and consensus building at a multidisciplinary scientific workshop. CONCLUSION(S): There are major gaps in knowledge regarding the etiologic mechanisms, psychosocial effects, natural history, and medical and psychosocial management of primary ovarian insufficiency. An international research consortium and disease registry formed under the guidance of an umbrella organization would provide a pathway to comprehensively increase basic and clinical knowledge about the condition. Such a consortium and patient registry also would provide clinical samples and clinical data with a goal toward defining the specific pathogenic mechanisms. An international collaborative approach that combines the structure of a patient registry with the principles of integrative care and community-based participatory research is needed to advance the field of primary ovarian insufficiency.


Subject(s)
Gynecology/trends , Primary Ovarian Insufficiency/therapy , Adolescent , Community-Based Participatory Research/organization & administration , Consensus , Female , Gynecology/methods , Gynecology/organization & administration , Humans , Pregnancy , Registries , Time Factors
19.
Clin Lab Med ; 30(3): 519-31, 2010 Sep.
Article in English | MEDLINE | ID: mdl-20638568

ABSTRACT

In the last two decades, the use of preimplantation genetic testing has increased dramatically. This testing is used for identifying singlegene disorders, chromosomal abnormalities, mitochondrial disorders, gender selection in non-mendelian disorders with unequal gender distribution, aneuploidy screening, and other preconceptually identified genetic abnormalities in prospective parents. Genetic testing strategies and diagnostic accuracy continues to improve, but not without risks or controversies. In this review the authors discuss the techniques and clinical application of preimplantation genetic diagnosis, and the debate surrounding its associated uncertainty and expanded use.


Subject(s)
Preimplantation Diagnosis , Embryo Research , Female , Humans , Pregnancy
20.
Fertil Steril ; 93(3): 900-3, 2010 Feb.
Article in English | MEDLINE | ID: mdl-19064265

ABSTRACT

OBJECTIVE: To describe a novel use for a tracheobronchial stent to maintain patency after vaginal septum excision in a patient with an obstructed hemivagina and uterine didelphys. DESIGN: Description of a novel technique. SETTING: University-affiliated children's hospital. PATIENT(S): One patient with an obstructed hemivagina and uterine didelphys who presented with hematometria and hematocolpos. INTERVENTION(S): To maintain patency and decrease stenosis risk after vaginal septum excision, a coated tracheobronchial stent was deployed and left in place for 6 weeks. MAIN OUTCOME MEASURE(S): To evaluate ease of stent placement and removal, reepithelialization and patency of the neovagina, and postoperative assessment of pain and recurrent obstruction. RESULT(S): The tracheobronchial stent was easily positioned and deployed with vaginoscopic guidance. Six weeks later it was removed without any tissue ingrowth or granulation tissue noted. The vaginal walls were nicely epithelialized. Twelve months postoperatively, the patient remained pain free with regular cycles and no evidence of obstruction or abnormality on ultrasound. CONCLUSION(S): Use of a coated tracheobronchial stent to maintain patency after septum excision in a patient with an obstructed hemivagina presents a safe, easy, and effective option to diminish stenosis risk and avoid infectious complications or hysterectomy.


Subject(s)
Gynecologic Surgical Procedures/instrumentation , Stents , Urogenital Abnormalities/surgery , Uterus/abnormalities , Vagina/abnormalities , Vagina/surgery , Adolescent , Female , Gynecologic Surgical Procedures/methods , Humans , Pulmonary Surgical Procedures/instrumentation , Trachea
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