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1.
Eur Heart J ; 2024 Sep 26.
Artículo en Inglés | MEDLINE | ID: mdl-39326528

RESUMEN

BACKGROUND AND AIMS: Children born after assisted reproductive technology (ART) have worse perinatal outcomes compared with spontaneously conceived children. This study investigates whether children conceived after ART have a higher risk of congenital heart defects (CHDs) compared with children born after spontaneous conception (SC). METHODS: All 7 747 637 liveborn children in Denmark (1994-2014), Finland (1990-2014), Norway (1984-2015), and Sweden (1987-2015), where 171 735 children were conceived after ART, were included. National ART and medical birth registry data were cross-linked with data from other health and population registries. Outcomes were major CHDs, severe CHDs, 6 hierarchical CHD lesion groups, and 10 selected major CHDs, diagnosed prenatally or up to 1 year of age (Denmark, Finland, and Sweden) and prenatally or at birth (Norway). The association between ART and CHDs was assessed with multivariable logistic regression analysis, with adjustment for available confounders. RESULTS: Major CHDs were detected in 3159 children born after ART (1.84%) and in 86 824 children born after SC [1.15%; adjusted odds ratio (AOR) 1.36; 95% confidence interval (CI) 1.31-1.41]. Risk was highest in multiples, regardless of conception method. Severe CHDs were detected in 594 children born after ART (0.35%) and in 19 375 children born after SC (0.26%; AOR 1.30; 95% CI 1.20-1.42). Risk was similar between ICSI and IVF and between frozen and fresh embryo transfer. CONCLUSIONS: Assisted reproductive technology-conceived children have a higher prevalence of major CHDs, being rare, but severe conditions. The absolute risks are, however, modest and partly associated with multiple pregnancies, more prevalent in ART.

2.
Artículo en Inglés, Chino | MEDLINE | ID: mdl-39319473

RESUMEN

OBJECTIVES: To summarize the best evidence for the management of ovarian hyperstimulation syndrome in patients undergoing assisted reproductive therapy. METHODS: Evidence related to the management of ovarian hyperstimulation syndrome in patients undergoing assisted reproductive therapy, including practice guidelines, systematic evaluation, expert consensuws and evidence summary was systematically searched in UpToDate, BMJ Best Practice, World Health Organization (WHO) website, Guidelines International Network (GIN), National Institute for Health and Clinical Excellence (NICE) website, National Guidelines website, American Society for Reproductive Medicine (ASRM) website, New York Academy of Sciences (NYAS) website, Joanna Briggs Institute (JBI) database, Cochrane Library, CINAHL, PubMed, Wanfang Knowledge Data Service Platform, CNKI, and China Biomedical Literature Database from inception to March 1, 2024. Two researchers independently evaluated the quality of the literature, and a senior researcher made the final decision for literature inclusion. RESULTS: A total of 14 articles met the criteria, including 5 practical guidelines, 3 systematic evaluations, 2 expert consensuses, 1 evidence summary paper and 3 from UptoDate. The final formation includes five aspects: risk assessment, disease monitoring, early prevention, institutional management, and health education, with a total of 27 best pieces of evidence. CONCLUSIONS: The updated evidence indicates that the monitoring and prevention of ovarian hyperstimulation syndrome should start early; medical practitioners should provide personalized treatment plans for patients, promote the rational allocation of treatment resources, and enhance effective management of ovarian hyperstimulation syndrome.

3.
Arch Gynecol Obstet ; 2024 Sep 04.
Artículo en Inglés | MEDLINE | ID: mdl-39227392

RESUMEN

PURPOSE: The present systematic review aimed to assess the fecundity of women with congenital uterine anomalies (CUAs) undergoing assisted reproductive technology (ART). METHODS: The present systematic review of the literature was reported according to the PRISMA guidelines. We systematically searched PubMed, MEDLINE, Embase and Scopus, from database inception to 17th October 2023. Studies were deemed eligible only if they included women with CUAs clearly fitting into one of the categories of the ASRM Müllerian anomalies classification 2021. RESULTS: Data relevant to the reproductive outcomes of women with CUAs who underwent ART were extracted from 55 studies. Regarding Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, studies on gestational surrogacy reported a live birth rate (LBR) ranging from 37 to 54%. Uterus transplant, although still experimental, showed promising results. Most studies reported a negative impact of unicornuate uterus and partial or complete septate uterus on both the miscarriage rate (MR) and the live birth rate (LBR). The reproductive prognosis of women with unicornuate uterus was shown to be particularly poor in case of twin pregnancy. Uterus didelphys, bicornuate and arcuate uterus seem not to negatively impact the ART reproductive outcomes. Uterus didelphys was associated with an increased risk of preterm birth (PTB), cesarean section and low birth weight (LBW). CONCLUSION: Women with CUAs should be informed regarding the impact (if any) of their congenital anomaly on both the chances of success of ART and on pregnancy-related complications. Elective single embryo transfer (eSET) should always be the first choice in patients with an increased baseline obstetric risk.

4.
Heliyon ; 10(16): e35618, 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39247291

RESUMEN

Neonicotinoid insecticides (NEOs) are a widely used type of insecticide found globally, leading to broad human exposure. However, there is limited research on how internal exposure levels of NEOs and their metabolites impact in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) outcomes. A study was conducted at the Sixth Affiliated Hospital of Sun Yat-sen University between 2017 and 2020 involving 436 women undergoing IVF/ICSI treatment. Data on demographics and clinical history were collected from medical records. The concentrations of 11 NEOs and 4 NEO metabolites in follicular fluid and serum were measured using a salting-out assisted liquid-liquid extraction method and liquid chromatography-tandem mass spectrometry. Our findings indicated that NEOs were prevalent in women with infertility. One NEO metabolite, N-dm-ACE, was detected in all samples with median concentrations of 0.221 ng/mL in follicular fluid and 0.228 ng/mL in serum. The study showed a decrease in the number of retrieved oocytes, mature oocytes, 2 PN zygotes, and high-quality embryos as the number of exposed NEOs in follicular fluid increased. Women in the highest tertile of N-dm-ACE exposure had fewer mature oocytes, 2 PN zygotes, and lower oocyte maturity rates compared to those in the lowest tertile. The findings suggest that exposure to NEOs may negatively impact reproductive outcomes in IVF/ICSI pregnancies, particularly affecting oocyte retrieval and embryo quality. This study highlights the potential adverse effects of environmental NEO exposure on IVF/ICSI outcomes, emphasizing the importance of considering such exposures in preconception care.

5.
JBRA Assist Reprod ; 2024 Sep 10.
Artículo en Inglés | MEDLINE | ID: mdl-39254471

RESUMEN

OBJECTIVE: Human reproduction presents a challenge for our species, as evidenced by the escalating rates of infertility. This trend has prompted inquiries into diverse strategies aimed at mitigating infertility and enhancing conception rates. Despite the extensive research on advanced maternal age as a risk factor for reproductive outcomes, paternal age has historically garnered comparatively less attention. The aim of this study was to assess the impact of paternal age on embryos and its subsequent repercussions on fertilization rate, biochemical pregnancy, clinical pregnancy, and live birth rate in individuals undergoing assisted reproductive treatment in a public reproductive center located in Brazil. METHODS: This investigation adopted a retrospective cohort, cross-sectional, analytical design, utilizing the analysis of secondary data, covering the period from July 2015 to July 2021. RESULTS: A total of 350 couples grappling with infertility and undergoing intrauterine insemination (IUI), in vitro fertilization (IVF), and intracytoplasmic sperm injection (ICSI) were included in the analysis. Examination of age groups revealed a notable correlation between the ages of women and men (correlation coefficient R=0.12, p<0.0001). In the analysis of IVF techniques, a discernible trend towards a negative correlation with paternal age was observed, signifying that higher paternal age was linked to lower fertilization rates (p=0.004). CONCLUSIONS: Advanced paternal age significantly impacts full-term birth rates in IVF procedures, emphasizing the need for preconception public health advisories that underscore the risks associated with delaying parenthood for both men and women, particularly among those necessitating assisted reproductive techniques.

6.
Int J Womens Health ; 16: 1493-1504, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39281323

RESUMEN

Background: There are multiple psychological symptoms in women undergoing assisted reproductive technology, which seriously affect health-related quality of life and even cause patients to stop treatment. Aim: This study aimed to identify psychological symptom clusters and their influencing factors in women undergoing assisted reproductive technology. Methods: A cross-sectional survey was conducted from June to November 2023 at the reproductive centers of Nanjing Women and Children's Healthcare Hospital. Data on demographic and clinical characteristics and Symptom Checklist-90 were collected. Exploratory factor analysis was performed to identify psychological symptom clusters. Univariate logistic regression analysis and multivariate logistic regression analysis were performed to explore influencing factors. Results: A total of 213 patients were recruited. The study found that the included participants scored higher on all SCL scales than the general Chinese females. The three most common were trouble remembering things (81.7%), feeling easily annoyed or irritated (81.2%), and feeling low in energy or slowed down (70.9%). Six symptom clusters were identified: paranoid ideation, depression, obsessive-compulsive disorder, interpersonal sensitivity, somatization, and sleep disorders. Multivariate logistic regression analysis showed that duration of infertility treatment (>12 months) was identified as a risk factor for sleep disorder cluster (OR=2.833, 95% CI:1.355~5.922), adverse pregnancy history was identified as a risk factor for paranoid ideation cluster (OR=2.961,95% CI:1.406~6.253), depression cluster (OR=2.404,95% CI:1.240~4.660), and obsessive-compulsive cluster (OR=1.810, 95% CI:1.016~3.233), financial burden during treatment was identified as risk factors for all symptom clusters[(OR=5.869, 95% CI:1.717~20.057),(OR=6.490,95% CI:2.210~19.063),(OR=3.034,95% CI:1.560~5.898),(OR=7.078,95% CI:2.420~20.698),(OR=4.532,95% CI:1.845~10.397),(OR=2.151,95% CI:1.129~4.098)]. Conclusion: Women undergoing ART experience various psychological symptoms that are interrelated and exist in the form of symptom clusters. More attention should be paid to the psychological status of patients with longer duration of infertility treatment, adverse pregnancy history, and financial burden during treatment. This study guides the development of targeted and effective psychological interventions to facilitate symptom management in women undergoing ART.

7.
Cult Health Sex ; : 1-16, 2024 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-39289917

RESUMEN

The study focuses on how infertility and assisted reproductive technology (ART) have been portrayed in the Zimbabwean print news media, specifically looking at articles related to the country's two private fertility clinics established in 2016 and 2017 respectively. Through thematic analysis of 35 news articles, seven prominent themes were developed: infertility as an undesirable and stigmatised condition; stress and the feminisation of infertility; the impact of societal and familial pressure to have children; ART as a ray of hope for infertile couples; growing acceptance of ART; availability, accessibility and affordability of ART; and the use of alternative medicines to cure infertility. The research highlights the coexistence of traditional medicine and ART in Zimbabwe, as well as the impact of stigma, pressure, and gender dynamics on infertile couples. Study findings signal how costly ART treatments may drive individuals towards potentially harmful traditional remedies. They also underscore the need for increased awareness of infertility, efforts to reduce stigma, and addressing barriers to ART access, particularly for men. Overall, findings shed light on the complexities surrounding infertility in Zimbabwe and the importance of addressing these issues in pursuit of better reproductive healthcare outcomes.

8.
Artículo en Inglés | MEDLINE | ID: mdl-39269488

RESUMEN

Polycystic ovary syndrome (PCOS) is a prevalent gynecological-endocrinological disorder characterized by hyperandrogenism, menstrual irregularities, and metabolic disturbances. Recent research has highlighted the role of oxidative stress and chronic inflammation in exacerbating PCOS symptoms and impeding reproductive outcomes. Astaxanthin, a potent antioxidant found in marine organisms, has been suggested as a potential therapeutic intervention due to its ability to reduce oxidative stress and inflammation. This meta-analysis systematically reviews randomized controlled trials assessing the impact of astaxanthin supplementation on oxidative stress and reproductive outcomes in women with PCOS. Data from four trials were analyzed, focusing on markers of oxidative stress and reproductive health metrics. The meta-analysis utilized fixed and random-effects models to synthesize results, with heterogeneity assessed using Chi-square and I2 statistics. The findings indicate that while astaxanthin significantly improves markers of total antioxidant capacity (TAC) in follicular fluid, it does not show a consistent effect on other oxidative stress biomarkers such as malondialdehyde (MDA), catalase (CAT), or superoxide dismutase (SOD). Reproductive outcomes, including oocyte quality and the number of high-quality embryos, showed moderate improvements, although effects on fertilization rates and pregnancy outcomes were insignificant. The analysis highlights variability in study designs and dosing, suggesting a need for further research with standardized protocols and larger sample sizes. Future studies should focus on determining optimal dosing, exploring mechanistic pathways, and investigating the combined effects of astaxanthin with other interventions. Longitudinal studies are needed to assess long-term benefits and safety, and personalized approaches could enhance treatment efficacy for individuals with PCOS.

9.
Int J Clin Oncol ; 2024 Sep 04.
Artículo en Inglés | MEDLINE | ID: mdl-39231915

RESUMEN

BACKGROUND: The expenses related to fertility preservation or subsequent assisted reproductive treatments are significant for adolescents and young adult patients in Japan's current healthcare system. With fertility preservation becoming more widespread in developed countries, it is expected that these costs will be covered by insurance or subsidies. It is critical for patients, healthcare providers, and the government to know the costs that patients will be responsible for. In Japan, the costs of fertility preservation and subsequent assisted reproductive technology are not covered by insurance, but patients can apply for subsidies from the local and central governments if certain conditions are met. Presently, the above-mentioned costs, as well as the amount paid by the patient, vary by facility. Therefore, it is essential to ensure patients' continued access to necessary medical care despite the associated costs. METHODS: In this study, questionnaires were mailed to 186 certified fertility preservation facilities in Japan to assess patients who had undergone fertility preservation or assisted reproduction. The questionnaires were sent between October 27, 2023 and March 31, 2024, with 140 of the 186 facilities responding (response rate: 75.3%). RESULTS: Our findings show that approximately one-third of the costs was borne by the patients. CONCLUSION: Given these circumstances, sustainable pricing and insurance coverage are necessary for both patients and facilities.

10.
Artículo en Inglés | MEDLINE | ID: mdl-39264016

RESUMEN

AIM: This study aimed to investigate the association between the components of metabolic syndrome (MetS) and reproductive outcomes in women with polycystic ovary syndrome (PCOS) undergoing their first in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) embryo transfer cycle. METHODS: This is a retrospective study that included 720 women with PCOS from January 2018 to December 2021. Anthropometric, biochemical, and reproductive data of the study subjects were collected from electronic medical record. Women with PCOS met <3, 3, and >3 criteria of MetS were classified in group 1, 2, and 3, respectively. RESULTS: The miscarriage rate in women with MetS was significantly higher than that in non-MetS group (23.2% vs. 14.2%, p = 0.03). There was a significant increasing trend in miscarriage rate from group 1 to group 3 (p for trend <0.05). The miscarriage rate in group 3 was significantly higher than that in group 1 (29.3% vs. 14.2%, p < 0.05). Logistic regression analyses showed that women with at least four components of MetS (group 3) were independently associated with a high risk of miscarriage, with the odds ratios and 95% confidence intervals for group 2 and 3 versus group 1 were 1.38 (0.67-2.82) and 2.46 (1.06-5.74), respectively (p for trend = 0.04). CONCLUSIONS: PCOS women accompanied with at least four diagnostic criteria of MetS is independently associated with increased miscarriage rate when undergoing their first IVF or ICSI cycle.

11.
Eur J Obstet Gynecol Reprod Biol ; 302: 167-172, 2024 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-39277965

RESUMEN

OBJECTIVE: The aim was to analyze the clinical characteristics, controlled ovarian stimulation status, pregnancy outcomes, and major factors influencing live births in patients with endometrial hyperplasia (EH) undergoing IVF/ICSI for assisted reproduction, so as to identify potential intervention measures. STUDY DESIGN: Patients with EH who achieved complete remission (CR) after conservative treatment and who were undergoing their first IVF/ICSI cycle were included in this matched-pair study. Patients with normal endometriums were matched at a 1:2 ratio with the control group for the first cycle of controlled ovarian stimulation. Matching was based on age, and reproductive outcomes were analyzed. RESULTS: Among the 263 patients (including 51 cases with atypical endometrial hyperplasia) in the study group, the pregnancy rate after the first controlled ovarian stimulation cycle was 48.67 % (128/263), and the live birth rate was 34.98 % (92/263). Multiple logistic regression analysis revealed that maternal age, body mass index (BMI), and endometrial thickness were significantly associated with live births (P<0.001). Specifically, being aged ≥ 35 years (OR 0.450, 95 % CI 0.223-0.907) and having a BMI≥28 kg/m2 (OR 0.358, 95 % CI 0.161-0.798) were identified as unfavorable factors for a clinical live birth, while an endometrial thickness ≥ 10 mm was found to be a favorable factor. CONCLUSION(S): ART is effective in patients with EH who have achieved CR after conservative treatment. Avoiding unnecessary intrauterine procedures, controlling body weight appropriately, and choosing suitable ART methods as soon as possible may be beneficial for clinical outcomes.

12.
Reprod Biomed Online ; 49(5): 104364, 2024 Jul 14.
Artículo en Inglés | MEDLINE | ID: mdl-39278124

RESUMEN

RESEARCH QUESTION: Can day 3 embryo morphology serve as an independent criterion for optimal single blastocyst selection? DESIGN: This retrospective, single-centre cohort study included 1517 single vitrified-warmed blastocyst transfer (SVBT) cycles conducted between October 2019 and July 2022. The live birth rate (LBR) and other clinical outcomes of SVBT cycles were evaluated, considering both good-quality and non-good-quality day 3 embryos. The associations of day 3 morphological characteristics, encompassing number of blastomeres and embryo grade, were assessed. Multivariable analyses were undertaken using multiple models adjusted for day of blastocyst development and blastocyst grade. RESULTS: Blastocysts from good-quality day 3 embryos had significantly higher LBR compared with those from non-good-quality embryos for both day 5 (51.5% versus 42.9%; P = 0.013) and day 6 (25.1% versus 17.6%; P = 0.018) blastocysts. LBR did not differ significantly with number of blastomeres on day 3, regardless of day of blastocyst development (day 5/6) or blastocyst grade. LBR varied significantly by day 3 embryo grade for both day 5 (48.0%, 51.5%, 46.6% and 32.7% for grades I, II, III and IV-V; P = 0.005) and day 6 (41.5%, 23.6%, 15.9% and 16.1% for grades I, II, III and IV-V; P = 0.001) blastocysts. Multivariable logistic regression revealed that non-good-quality embryos and lower morphological grade (IV-V) on day 3 were significantly and negatively correlated with LBR, while the number of blastomeres on day 3 was not an independent factor. CONCLUSIONS: When selecting blastocysts of equal quality for SVBT cycles, those with higher day 3 morphological scores are preferred. Day 3 morphological evaluation is a valuable supplement to conventional selection methods.

13.
Nutrition ; 127: 112555, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39226629

RESUMEN

OBJECTIVE: To assess the relationship between meal consumption frequency and assisted reproductive technology (ART) outcomes among female patients with infertility. RESEARCH METHODS & PROCEDURES: This cohort study was conducted from February 2022 to January 2024 at Tokyo Medical University Hospital. Overall, 101 female patients with infertility issues and without a history of stroke, heart disease, cancer, or type 1 or type 2 diabetes were enrolled in this study. The factors extracted from the questionnaire included demographic information, meal consumption frequency before ART and at 20 years of age, smoking status, and alcohol consumption status. Data on other factors, including age, body mass index, anti-Müllerian hormone level, and parity history, were collected from medical records. The assessed clinical outcomes included number of transplanted embryos, clinical pregnancies, ongoing pregnancies, live births, and miscarriages. RESULTS: After adjusting for potential confounding factors, including age, smoking status, alcohol consumption status, body mass index, anti-Müllerian hormone level, and parity history, a multivariate analysis of ART outcomes was performed. Patients were categorized into groups based on the frequency of weekly consumption of breakfast, lunch, and dinner. Patients who consumed breakfast 6-7 times a week were significantly more likely to have higher rates of live birth and lower rates of miscarriage in pregnancies conceived through ART. CONCLUSIONS: Consumption of breakfast 6-7 times a week before ART was associated with increased success rates following ART. This highlights the potential importance of regular breakfast consumption for optimizing ART outcomes.


Asunto(s)
Desayuno , Técnicas Reproductivas Asistidas , Humanos , Femenino , Técnicas Reproductivas Asistidas/estadística & datos numéricos , Embarazo , Adulto , Estudios de Cohortes , Infertilidad Femenina/terapia , Nacimiento Vivo/epidemiología , Resultado del Embarazo , Resultado del Tratamiento , Aborto Espontáneo/epidemiología , Aborto Espontáneo/etiología , Índice de Masa Corporal
14.
Fertil Steril ; 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39260539

RESUMEN

OBJECTIVE: To determine whether an association exists between in vitro fertility (IVF) and severe maternal morbidity among low-risk pregnant patients. DESIGN: Retrospective cohort study SUBJECTS: Low-risk pregnant patients who delivered between 1/2019 and 12/2022. Low-risk was defined as having an Obstetric Comorbidity Index (OB-CMI) score of 0. EXPOSURE: IVF MAIN OUTCOME MEASURES: The primary outcome (dependent variable) was any severe maternal morbidity. The secondary outcome was the need for a cesarean delivery. A modified Poisson regression with robust error variance was used to model the probability of severe maternal morbidity as a function of IVF. Risk ratios (RR) and their associated 95% confidence intervals (CI) were computed. An alpha value of 0.05 was considered statistically significant. RESULTS: A total of 39,668 pregnancies were included for analysis, and 454 (1.1%) were conceived by IVF. The overall severe maternal morbidity rate was 2.4% (n=949), with the most common indicator being blood transfusion. Overall cesarean delivery rate was 18.8% (n=7,459). On modified Poisson regression, IVF-conceived pregnancies were associated with 2.56 times the risk of severe maternal morbidity (95% CI 1.73 - 3.79) and 1.54 times the risk of having a cesarean delivery (95% CI, 1.37-1.74) compared to non-IVF pregnancies. CONCLUSION: IVF is associated with higher rates of severe maternal morbidity, primarily the need for a blood transfusion, and cesarean delivery in low-risk pregnancies without major comorbidities. Recognizing this association allows healthcare providers to implement proactive measures for better monitoring and tailored postpartum care.

15.
Reprod Biomed Online ; 49(5): 104353, 2024 Jul 03.
Artículo en Inglés | MEDLINE | ID: mdl-39305801

RESUMEN

RESEARCH QUESTION: What were the utilization, effectiveness and safety of assisted reproductive technology (ART) in Africa during 2020? DESIGN: Cross-sectional, cycle-based and retrospective summary data were collected from voluntarily participating ART centres. RESULTS: During 2020, 37,063 ART procedures were reported by 67 centres in 15 countries. Autologous fresh transfers were predominant at 65.0%, whereas autologous frozen embryo transfers (FET) represented 26.2% and oocyte donation cycles remained less than 10%. Women undergoing autologous fresh embryo transfer had a mean age of 34.9 years and received a mean number of 2.4 embryos per transfer. The clinical pregnancy rate (CPR) per embryo transfer was 37.3% after fresh embryo transfer and 37.8% after frozen embryo transfer. The cumulative CPR per aspiration was 41.9% in autologous cycles. Most ART procedures resulted in a multiple delivery rate above 20%. After autologous ART, multiples were predominantly born preterm (twin and triplet deliveries 59.5% versus singleton 21.9% born before 37 weeks), with a substantially increased perinatal mortality compared with ART singletons (59.0‰ versus 22.2‰). Cycle-based data documented that elective single embryo transfer (eSET) provides the optimal balance of effectiveness (eSET CPR per embryo transfer 36.7%) and safety. CONCLUSION: This fourth report of the African Network and Registry for ART provides real-world evidence of ART utilization, practices and outcomes in Africa, which is relevant to many stakeholders. It critically informs and represents regional ART development based on national, regional and global cooperation.

16.
Gene ; 933: 148946, 2024 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-39277148

RESUMEN

Premature ovarian insufficiency (POI) is the main cause of infertility in women. Some cases of POI are thought to be caused by genetic defects and the clinical outcomes of these patients are unknown. Here, we performed whole-exome sequencing of the peripheral blood of a cohort of 55 subjects with POI and identified one heterozygous missense variant in FOXL2 (c.1045G>C; p.Arg349Gly) and two heterozygous missense variants in ERCC6 (c.379G>A; p.Val127Ile and c.4223A>C; p.Glu1408 Ala) in four POI patients. All of these heterozygous mutations were predicted to be deleterious and were parentally inherited from their heterozygous fathers. The mRNA and protein expression of FOXL2 and ERCC6 were absent or decreased in the patients. The patients carrying the variants of FOXL2 (c.1045G>C; p.Arg349Gly) and ERCC6 (c.379G>A; p.Val127Ile) failed to conceive in two and four assisted reproductive cycles, respectively. Another patient and her sister carrying the ERCC6 (c.4223A>C; p.Glu1408 Ala) variant achieved good clinical outcomes after assisted reproductive therapy. Our findings support the possible roles of FOXL2 and ERCC6 in POI and might contribute to the genetic counseling of POI patients.

17.
Reprod Biomed Online ; 49(6): 104378, 2024 Aug 03.
Artículo en Inglés | MEDLINE | ID: mdl-39321730

RESUMEN

This guideline was prepared by the Turkish Society of Reproductive Medicine to define the conditions and requirements for an outsourced preimplantation genetic testing (PGT) programme in line with the experience and needs of practitioners. This guideline is intended to be a reference document for assisted reproductive technology centres, genetic diagnosis centres, non-governmental organizations working on reproductive health, legal experts, consultants working on laboratory accreditation, academicians specializing in ethical issues, and policy makers. The Consortium aims to provide recommendations addressing the challenges of genetic testing, especially PGT for monogenic diseases (PGT-M) due to the high rate of consanguineous marriage in Turkey. For this purpose, this summary document specifically includes challenges and recommendations regarding PGT-M practice, and aims to identify and aid in prevention of errors leading to misdiagnosis. The recommendations can be modified to fit other locations.

18.
J Stroke Cerebrovasc Dis ; : 108031, 2024 Sep 23.
Artículo en Inglés | MEDLINE | ID: mdl-39321946

RESUMEN

BACKGROUND: Case reports describe arterial thrombosis including ischemic stroke associated with severe ovarian hyperstimulation syndrome (OHSS), but the prevalence of major ischemic events during or shortly after OHSS is unknown. METHODS: Using publicly available administrative datasets in the United States between 2015 and 2020, we conducted two separate cross-sectional studies of patients with OHSS. We included all patients with OHSS. Our study outcome was any hospitalization for acute ischemic stroke, acute myocardial infarction, cerebral venous sinus thrombosis, pulmonary embolism, or acute deep venous thrombosis during the index hospitalization or within 90 days of OHSS diagnosis. RESULTS AND CONCLUSIONS: We found very few major ischemic events in patients with OHSS.

19.
J Ultrasound Med ; 2024 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-39340198

RESUMEN

OBJECTIVES: The coexistence of intrauterine twin pregnancy and ectopic pregnancy (EP), known as heterotopic pregnancy, is a rare but potentially life-threatening condition. In this study, we aimed to investigate the pregnancy outcomes in women with intrauterine twin pregnancies complicated with EP after assisted reproductive technology. METHODS: This retrospective study analyzed the medical records of 42 women diagnosed with intrauterine twin pregnancies complicated with EP via ultrasound or surgery at our hospital between January 2005 and December 2020. We collected data on patient general characteristics, high-risk factors, clinical symptoms, ultrasound features, treatment methods, and pregnancy outcomes. RESULTS: Among the 42 included women, 47.6% (20/42) had a history of tubal surgery, while 52.4% (22/42) and 47.6% (20/42) received the transfer of 2 and 3 embryos, respectively. In terms of treatment, 21.4% (9/42) women received expectant management, whereas 78.6% (33/42) underwent surgical treatment, with laparoscopic surgery accounting for 71.4% (30/42). Tracking the pregnancy outcomes revealed a live birth rate of 81.0% (34/42) and a full-term birth rate of 50.0% (21/42). The preterm birth rate was 31.0% (13/42), with a breakdown of 1 singleton (7.7%, 1/13) and 12 twin births (92.3%, 12/13) among the total 13 premature deliveries. Among the neonates, 33.3% (14/42) were singletons and 47.6% (20/42) twins. Caesarean section accounted for 31 out of 34 deliveries (91.2%). CONCLUSIONS: Though the incidence of EP in twin pregnancies has declined in the last decade, early diagnosis and proper management are still crucial for favorable outcomes in twin pregnancies with EP.

20.
J Clin Med ; 13(18)2024 Sep 19.
Artículo en Inglés | MEDLINE | ID: mdl-39337054

RESUMEN

Objective: This meta-analysis aims to quantitatively summarize current data on various potential risk factors of velamentous cord insertion (VCI). A better understanding of these risk factors could enhance prenatal identification both in settings with routine screening and in those where universal screening for cord insertion anomalies is not yet recommended. Methods: A systematic search was conducted in MEDLINE, Cochrane Library, and Scopus from their inception until 7 February 2024. Eligible studies included observational studies of singleton pregnancies with VCI, identified either prenatally or postnatally, compared with pregnancies with central or eccentric cord insertion. Analyses were performed using DerSimonian and Laird random-effects models, with outcomes reported as risk ratios (RR) or mean differences with 95% confidence intervals (CI). Results: In total, 14 cohort and 4 case-control studies were included, reporting on 952,163 singleton pregnancies. Based on the cohort studies, the overall prevalence of VCI among singleton pregnancies was calculated to be 1.54%. The risk of VCI was significantly higher among pregnancies conceived using assisted reproductive technology (RR, 2.32; 95% CI: 1.77-3.05), nulliparous women (RR, 1.21; 95% CI: 1.15-1.28), women who smoked (RR, 1.14; 95% CI: 1.08-1.19), and pregnancies diagnosed with placenta previa (RR, 3.60; 95% CI: 3.04-4.28). Conclusions: This meta-analysis identified assisted reproductive technology, nulliparity, smoking, and placenta previa as significant risk factors of VCI among singleton pregnancies. These findings could inform screening policies in settings where universal screening for cord insertion is not routinely performed, suggesting a targeted approach for women with these specific risk factors.

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