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Biomedicines May 2024Inherited thrombophilia (IT) has been implicated as a potential causal factor of adverse pregnancy outcomes (APOs), including recurrent miscarriage with and without the...
Inherited thrombophilia (IT) has been implicated as a potential causal factor of adverse pregnancy outcomes (APOs), including recurrent miscarriage with and without the presence of antiphospholipid syndrome (APS). The aim of this study was to assess the prevalence and impact of IT on fetal-maternal outcomes and thrombotic risk in women within the spectrum of obstetric APS. Three hundred and twenty-eight women with APS-related obstetric morbidity ever pregnant were included. Of these, 74 met the APS classification criteria, 169 were non-criteria (NC)-APS, and 85 were seronegative (SN)-APS. Patients with other autoimmune diseases were excluded. APOs included early pregnancy loss, fetal death, preeclampsia, abruptio placentae, and preterm birth. Successful pregnancy was defined as the achievement of a live newborn. A literature search was also performed. The mean age of the overall group was 33.9 ± 5.3 years, and the patients were followed up for 35 (11-79) months. During the study period, there were 1332 pregnancies. Nearly 14% of the patients had an associated IT. IT patients more frequently received the standard-of-care (SoC) therapy. The presence of IT was not associated with worse maternal-fetal outcomes in patients treated with SoC treatment. Overall, IT patients had a lower frequency of newborns without treatment, especially those without definite APS. In addition, IT did not increase the risk of thrombosis during pregnancy or the postpartum period. A detailed analysis of the literature review identified only four publications related to our study and did not show conclusive evidence of the impact of IT on patients with obstetric APS. The group of women with APS-related obstetric morbidity and IT who did not receive treatment, especially those without definite APS, had a worse prognosis in terms of a live birth. However, with SoC therapy, the prognosis is similar in those patients without IT. The association of IT with APS does not seem to predispose to the development of thrombosis during pregnancy and/or the postpartum period.
PubMed: 38927381
DOI: 10.3390/biomedicines12061174 -
Journal of Perinatal Medicine Jun 2024A recent European randomized trial - Tracheal Occlusion To Accelerate Lung Growth - demonstrated that fetoscopic endoluminal tracheal occlusion (FETO) is associated...
OBJECTIVES
A recent European randomized trial - Tracheal Occlusion To Accelerate Lung Growth - demonstrated that fetoscopic endoluminal tracheal occlusion (FETO) is associated with increased postnatal survival among infants with severe congenital diaphragmatic hernia (CDH). However, this differs in middle-income countries such as Brazil, where abortion is illegal and neonatal intensive care is inadequate. This study evaluated the effects of FETO on improving the survival of infants with moderate-to-severe CDH in isolated and non-isolated cases.
METHODS
This retrospective cohort study selected 49 fetuses with CDH, a normal karyotype, and a lung-to-head ratio (LHR) of <1 from a single national referral center for fetal surgery in São Paulo, Brazil, between January 2016 and November 2019. FETO was performed between 26 and 29 weeks of gestation. The primary outcomes were infant survival until discharge from the neonatal intensive care unit and survival until six months of age.
RESULTS
Forty-six women with singleton fetuses having severe CDH underwent prenatal intervention with FETO. Infant survival rates until discharge and at six months of age were both 38 %. The observed-to-expected LHR increased by 25 % after FETO in neonates who survived until discharge. Spontaneous intrauterine death occurred in four growth-restricted fetuses after FETO. Preterm birth in <37 weeks and preterm rupture of membranes in <34 weeks occurred in 56.5 % (26) and 26 % (12) cases, respectively.
CONCLUSIONS
FETO may increase neonatal survival in fetuses with severe CDH, particularly in countries with limited neonatal intensive care.
PubMed: 38926929
DOI: 10.1515/jpm-2024-0070 -
BJOG : An International Journal of... Jun 2024Vascular Ehlers-Danlos syndrome (vEDS) is a hereditary connective tissue disorder associated with an elevated risk of vascular, uterine and digestive complications.... (Review)
Review
BACKGROUND
Vascular Ehlers-Danlos syndrome (vEDS) is a hereditary connective tissue disorder associated with an elevated risk of vascular, uterine and digestive complications. Managing pregnancy in this context can be a challenge.
OBJECTIVES
To systematically review the literature data on the complications in pregnancy associated with vEDS.
SEARCH STRATEGY
We searched the Pubmed Medline and Embase databases for articles using the following terms "vascular Ehlers-Danlos syndrome" or "vEDS" AND "pregnancy".
SELECTION CRITERIA
Women with vEDS.
DATA COLLECTION AND ANALYSIS
We searched the PubMed® MEDLINE® database for publications evaluating obstetric outcomes in women with vEDS.
MAIN RESULTS
A total of 121 publications were screened, with six (accounting for 412 pregnancies) included in our review. Of the women included in this sample, 30% were infertile. The miscarriage rate was 13.8% (57/412) and 8.8% of the live births were premature. Obstetric anal sphincter injuries occurred in 11.3% (23/203) of the deliveries. The maternal mortality rate per pregnancy was 5.7%.
CONCLUSIONS
Women with vEDS present an elevated risk of uterine rupture, vascular events, digestive events and death during pregnancy. Women appear to be most at risk during the peripartum period; to avoid expulsive efforts, a caesarean section should be scheduled at 37 weeks of gestation.
PubMed: 38926786
DOI: 10.1111/1471-0528.17893 -
Women's Health Issues : Official... Jun 2024
PubMed: 38925991
DOI: 10.1016/j.whi.2024.05.004 -
Journal of Affective Disorders Jun 2024Pregnancy loss is arguably a traumatic and stressful life event that potentially impacts the emotional and behavioral health of those who experience it, especially...
BACKGROUND
Pregnancy loss is arguably a traumatic and stressful life event that potentially impacts the emotional and behavioral health of those who experience it, especially adolescents. Research assessing this relationship has primarily focused on adult women populations.
METHODS
Using data from National Longitudinal Study of Adolescent to Adult Health, a cross-sectional research design was employed to investigate whether pregnancy loss outcomes are associated with depressive mood and suicidal behavior (i.e., suicidal thoughts and suicide attempt) among adolescent girls (N = 6, 913). We also investigated the mediating effect of depressive mood. Initially, an all-encompassing pregnancy loss variable was used, which included abortions and miscarriages. Acknowledging the differences between these pregnancy loss outcomes, we created separate measures for each.
RESULTS
Using the all-encompassing pregnancy loss variable, findings from logistic regression analyses showed that pregnancy loss is positively and significantly associated with depressive mood and suicidal behaviors. Depressive mood mediated the relationship between pregnancy loss and suicidal behaviors. Miscarriage was positively and significantly associated with suicidal thoughts as well as attempting suicide. Depressive mood mediated the relationship between miscarriage and suicidal thoughts, while only partially mediating the relationship between miscarriage and suicide attempt. No significant effects were observed for abortion on outcomes of interest.
LIMITATIONS
Cross-sectional analyses were performed limiting our ability to make casual inferences.
CONCLUSIONS
Pregnancy loss is associated with depressive mood and suicidal behavior, especially among adolescent girls who experience a miscarriage. Adolescent pregnancy and pregnancy loss should remain a focus of scholars and health professionals.
PubMed: 38925303
DOI: 10.1016/j.jad.2024.06.081 -
American Journal of Reproductive... Jun 2024
Authors' reply: Commentary on "Intrauterine perfusion of dexamethasone improves pregnancy outcomes in recurrent reproductive failure patients with elevated uterine natural killer cells. A retrospective cohort study".
Topics: Humans; Female; Pregnancy; Dexamethasone; Killer Cells, Natural; Uterus; Pregnancy Outcome; Retrospective Studies; Perfusion; Abortion, Habitual
PubMed: 38923191
DOI: 10.1111/aji.13866 -
American Journal of Reproductive... Jun 2024Recurrent spontaneous abortion (RSA) is a serious and common complication of pregnancy caused by multiple factors. The etiology remains incompletely understood, but...
BACKGROUND
Recurrent spontaneous abortion (RSA) is a serious and common complication of pregnancy caused by multiple factors. The etiology remains incompletely understood, but immunologic factors play important roles. Here, we aimed to evaluate whether circulating immune cells causally impacted RSA.
METHODS
In this study, we conducted a comprehensive two-sample Mendelian randomization (MR) study to determine the causal association between the 731 immunophenotypes of human peripheral blood lymphocytes and the number of spontaneous abortions as well as recurrent miscarriage. Sensitivity analyses were performed to assess and minimize heterogeneity and horizontal pleiotropy. Reverse MR analysis was used to assess reverse causality.
RESULTS
After Bonferroni-correction, eight immunophenotypes were significantly associated with the number of spontaneous abortions: FSC-A on CD4 T cell (beta = -0.051, 95% CI = [-0.085, -0.017], P-value = 0.004), CD8 on HLA DR CD8 T cell (beta = -0.040, 95% CI = [-0.067, -0.014], P-value = 0.003), HLA DR on CD33 HLA DR CD11b (beta = -0.021, 95% CI = [-0.036, -0.005], P-value = 0.010), HLA DR T cell Absolute Count (beta = 0.022, 95% CI = [0.006, 0.037], P-value = 0.008), HLA DR T cell % lymphocyte (beta = 0.026, 95% CI = [0.010, 0.041], P-value = 0.001), HLA DR T cell % T cell (beta = 0.023, 95% CI = [0.007, 0.039], P-value = 0.004), HLA DR CD4 T cell % lymphocyte (beta = 0.034, 95% CI = [0.007, 0.060], P-value = 0.012), and HLA DR on B cell (beta = 0.012, 95% CI = [0.003, 0.021], P-value = 0.010). In addition, we identified two immunophenotypes associated with recurrent miscarriage: HLA DR on B cell (OR = 0.854, 95% CI = [0.757, 0.964], P-value = 0.011), and CD19 on naive-mature B cell (OR = 4.595, 95% CI = [1.674, 12.617], P-value = 0.003). There was no evidence of heterogeneity, horizontal pleiotropy and reverse causality.
CONCLUSIONS
Our study demonstrated a tight link between adaptive immune cells and RSA through genetic means, thus providing potential therapeutic targets or novel diagnostic biomarkers.
Topics: Humans; Female; Abortion, Habitual; Pregnancy; Mendelian Randomization Analysis; Immunophenotyping; CD4-Positive T-Lymphocytes; CD8-Positive T-Lymphocytes
PubMed: 38923068
DOI: 10.1111/aji.13888 -
Pediatric Reports May 2024Neither radiological phenotypic characteristics nor reconstruction CT scan has been used to study the early anatomical disruption of the cranial bone in children with...
BACKGROUND
Neither radiological phenotypic characteristics nor reconstruction CT scan has been used to study the early anatomical disruption of the cranial bone in children with the so-called idiopathic type of West syndrome.
MATERIAL AND METHODS
The basic diagnostic measures and the classical antiepileptic treatments were applied to these children in accordance with the conventional protocol of investigations and treatment for children with West syndrome. Boys from three unrelated families were given the diagnosis of the idiopathic type of West syndrome, aged 7, 10 and 12 years old. Parents underwent extensive clinical examinations. Three parents (age range of 28-41 year) were included in this study. All children showed a history of intellectual disabilities, cryptogenic epileptic spasms and fragmented hypsarrhythmia. These children and their parents were referred to our orthopedic departments because of variable skeletal deformities. Variable forms of skeletal deformities were the motive for the families to seek orthopedic advice. A constellation of flat foot, torticollis and early-onset osteoarthritis were observed by the family doctor. Apparently, and from the first clinical session in our practice, we felt that all these children are manifesting variable forms of abnormal craniofacial contour. Thereby, we immediately performed detailed cranial radiological phenotypic characterization of every affected child, as well as the siblings and parents, and all were enrolled in this study. All affected children underwent whole-exome sequence analysis.
RESULTS
The craniofacial phenotype of all children revealed apparent developmental anatomical disruption of the cranial bones. Palpation of the skull bones showed unusual palpable bony ridges along different sutural locations. A 7-year-old child showed abnormal bulging over the sagittal suture, associated with bilateral bony ridges over the squamosal sutures. AP skull radiograph of a 7-year-old boy with West syndrome showed facial asymmetry with early closure of the metopic suture, and other sutures seemed ill-defined. A 3D reconstruction CT scan of the skull showed early closure of the metopic suture. Another 3D reconstruction CT scan of the skull while the patient was in flexion showed early closure of the squamosal sutures, pressing the brain contents upward, causing the development of a prominent bulge at the top of the mid-sagittal suture. A reformatted 3D reconstruction CT scan confirmed the bilateral closure of the squamosal suture. Examination of the parents revealed a similar skull radiographic abnormality in his mother. A 3D reformatted frontal cranial CT of a 35-year-old mother showed early closure of the metopic and sagittal sutures, causing a mid-sagittal bony bulge. A 10-year-old boy showed an extremely narrow frontal area, facial asymmetry and a well palpable ridge over the lambdoid sutures. A 3D axial reconstruction CT scan of a 10-year-old boy with West syndrome illustrated the asymmetry of the posterior cranial bones along the lambdoid sutures. Interestingly, his 28-year-old mother has been a client at the department of spine surgery since she was 14 years old. A 3D reconstruction CT scan of the mother showed a noticeable bony ridge extending from the metopic suture upwards to involve the sagittal suture (red arrow heads). The black arrow shows a well demarcated bony ridge over the squamosal suture. A 3D reconstruction CT scan of the skull and spine showed the thick bony ridge of the metopic and the anterior sagittal as well as bilateral involvement of the squamosal, causing apparent anterior narrowing of the craniofacial contour. Note the lumbar scoliosis. A 12-year-old boy showed brachycephaly. A lateral skull radiograph of a 12-year-old boy with West syndrome showed premature sutural fusion, begetting an abnormal growth pattern, resulting in cranial deformity. The nature of the deformity depends on which sutures are involved, the time of onset and the sequence in which individual sutures fuse. In this child, brachycephalic secondary to craniosynostosis, which occurred because of bilateral early ossification of the coronal sutures, led to bi-coronal craniosynostosis. Thickened frontal bones and an ossified interclinoid ligament of the sella turcica were encountered. The lateral skull radiograph of a 38-year-old mother with a history of poor schooling achievements showed a very similar cranial contour of brachycephaly, thickening of the frontal bones and massive ossification of the clinoid ligament of the sella turcica. Maternal history revealed a history of multiple spontaneous miscarriages in the first trimester of more than five times. Investigating his parents revealed a brachycephalic mother with borderline intelligence. We affirm that the pattern of inheritance in the three boys was compatible with the X-linked recessive pattern of inheritance. Whole-exome sequencing showed non-definite phenotype/genotype correlation.
CONCLUSIONS
The aim of this study was sixfold: firstly, to refute the common usage of the term idiopathic; secondly, we feel that it could be possible that West syndrome is a symptom complex rather than a separate diagnostic entity; thirdly, to further detect the genetic carrier, we explored the connection between the cranial bones in children with West syndrome with what has been clinically observed in their parents; fourthly, the early life anatomical disruptions of the cranial bones among these children seem to be heterogeneous; fifthly, it shows that the progressive deceleration in the development of this group of children is highly connected to the progressive closure of the cranial sutures; sixthly, we affirm that our findings are novel.
PubMed: 38921700
DOI: 10.3390/pediatric16020035 -
World Journal of Surgical Oncology Jun 2024This study aimed to evaluate the oncological and reproductive outcomes of fertility-preserving re-treatment in progestin-resistant endometrial carcinoma (EC) and...
OBJECTIVE
This study aimed to evaluate the oncological and reproductive outcomes of fertility-preserving re-treatment in progestin-resistant endometrial carcinoma (EC) and atypical endometrial hyperplasia (AEH) women who desire to maintain their fertility.
METHODS
Our study included 61 progestin-resistant EC/AEH patients. These patients underwent treatment with gonadotropin-releasing hormone agonist (GnRHa) solely or a combination of GnRHa with levonorgestrel-releasing intrauterine system (LNG-IUD) or aromatase inhibitor (AI). Histological evaluations were performed every 3-4 months. Upon achieving complete remission (CR), we recommended maintenance treatments including LNG-IUD, cyclical oral contraceptives, or low-dose cyclic progestin until they began attempting conception. Regular follow-up was conducted for all patients. The chi-square method was utilized to compare oncological and fertility outcomes, while the Cox proportional hazards regression analysis helped identify risk factors for CR, recurrence, and pregnancy.
RESULTS
Overall, 55 (90.2%) patients achieved CR, including 90.9% of AEH patients and 89.7% of EC patients. The median re-treatment time was 6 months (ranging from 3 to 12 months). The CR rate for GnRHa alone, GnRHa + LNG-IUD and GnRHa + AI were 80.0%, 91.7% and 93.3%, respectively. After a median follow-up period of 36 months (ranging from 3 to 96 months), 19 women (34.5%) experienced recurrence, 40.0% in AEH and 31.4% in EC patients, with the median recurrence time of 23 months (ranging from 6 to 77 months). Among the patients who achieved CR, 39 expressed a desire to conceive, 20 (51.3%) became pregnant, 11 (28.2%) had successfully deliveries, 1 (5.1%) was still pregnant, while 8 (20.5%) suffered miscarriages.
CONCLUSION
GnRHa-based fertility-sparing treatment exhibited promising oncological and reproductive outcomes for progestin-resistant patients. Future larger multi-institutional studies are necessary to confirm these findings.
Topics: Humans; Female; Endometrial Neoplasms; Adult; Retrospective Studies; Fertility Preservation; Endometrial Hyperplasia; Progestins; Follow-Up Studies; Pregnancy; Drug Resistance, Neoplasm; Gonadotropin-Releasing Hormone; Levonorgestrel; Middle Aged; Prognosis; Intrauterine Devices, Medicated; Neoplasm Recurrence, Local; Pregnancy Rate; Aromatase Inhibitors; Antineoplastic Agents, Hormonal
PubMed: 38918837
DOI: 10.1186/s12957-024-03439-w -
BMC Pregnancy and Childbirth Jun 2024The study aimed to investigate the potential influence of COVID-19 infection on embryo implantation and early development in women undergoing frozen embryo transfer...
PURPOSE
The study aimed to investigate the potential influence of COVID-19 infection on embryo implantation and early development in women undergoing frozen embryo transfer (FET), with a specific focus on infections occurring at different periods around FET.
METHODS
A retrospective analysis was performed on women who had undergone FET during a period marked by a significant surge in COVID-19 infection in Shanghai. All enrolled women experienced their first documented COVID-19 infection around the time of FET, ensuring that infections did not occur prior to oocyte retrieval. Participants were categorized into six groups based on the timing of infection: uninfected, ≥ 60 days, < 60 days before FET, 0-14 days, 15-28 days, and 29-70 days after FET. Clinical outcomes were compared across these groups.
RESULTS
The infection rate among the total of 709 cases was 78.28%. Infected individuals exhibited either asymptomatic or mild symptoms. The ongoing pregnancy rates for the first four groups were 40.7%, 44.4%, 40.5%, and 34.2% (P = 0.709) respectively, biochemical pregnancy rates (59.1% vs. 61.1% vs. 67.6% vs. 55.7%, P = 0.471) and clinical pregnancy rates (49.6% vs. 55.6% vs. 55.4% vs. 48.1%, P = 0.749), all showed no significant differences. Early spontaneous abortion rates across all six groups were 18.3%, 20.0%, 25.0%, 28.9%, 5.4%, and 19.0% respectively, with no significant differences (P = 0.113). Multivariable logistic analysis revealed no significant correlation between the infection and ongoing pregnancy.
CONCLUSION
Asymptomatic or mild COVID-19 infections occurring around FET do not appear to have a significant adverse impact on early pregnancy outcomes.
Topics: Humans; Female; Pregnancy; COVID-19; Embryo Transfer; Retrospective Studies; Adult; China; Pregnancy Outcome; Pregnancy Rate; SARS-CoV-2; Cryopreservation; Embryo Implantation; Time Factors; Abortion, Spontaneous
PubMed: 38914960
DOI: 10.1186/s12884-024-06646-1