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1.
Pediatr Infect Dis J ; 2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38754000

RESUMO

BACKGROUND/OBJECTIVE: To date, there is no published, formal assessment of all maternal risk factors for respiratory syncytial virus lower respiratory tract infection (RSV-LRTI) in infants. A systematic literature review and meta-analysis were undertaken to ascertain: What maternal risk factors are associated with an increased risk of RSV-LRTI in infants? METHODS: The systematic literature review used explicit methods to identify, select and analyze relevant data. PubMed, Embase and the Cochrane Library were searched (November 2022) using terms regarding: (1) RSV/LRTI; (2) risk factors; (3) pregnant/postpartum population. Bayesian meta-analysis compared RSV hospitalization (RSVH) risk in infants born to mothers with or without certain risk factors. RESULTS: A total of 2353 citations were assessed and 20 were included in the final review (10 individual studies; 10 pooled analyses). In 10 studies examining infants (<1 year) without comorbidities (primary outcome), 10 maternal risk factors were associated with RSV-LRTI/RSVH in multivariate analyses. Meta-analysis revealed smoking while pregnant increased infant RSVH risk by 2.01 (95% credible interval: 1.52-2.64) times, while breast-feeding was protective (0.73, 95% credible interval: 0.58-0.90). Risk scoring tools have reported that maternal risk factors contribute between 9% and 21% of an infant's total risk score for RSVH. CONCLUSIONS: A greater understanding of maternal risk factors and their relative contribution to infant RSV-LRTI will enable more accurate assessments of the impact of preventive strategies.

2.
J Gynecol Obstet Hum Reprod ; 53(7): 102786, 2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38599518

RESUMO

INTRODUCTION: 24 % of abortion in Italy are repeated procedure. The cause of repeated abortion can be traced back to the inadequacy of the contraceptive counseling during the previous admission or to the adoption of an ineffective contraception method. This study aims to evaluate the Italian situation on the perceived quality of contraceptive counselling by patients undergoing abortion. The second aim is to verify if the chosen methods were available for immediate start. STUDY DESIGN: Multicentric, prospective, non-interventional, non-randomized, non-pharmacological clinical observational study. We analyzed anonymous questionnaires on contraceptive counseling and LARC (Long Acting Reversable Contraceptives) availability and SARC (Short Acting Reversable Contraceptives) prescription at hospital discharge, distributed to women who requested abortion. RESULTS: 1074 participants on 15 hospitals through Italy. 82 % of the interviewees reported that they had received correct information regarding contraception. 74 % of the patients who chose LARC methods reported to have them inserted at the time of abortion. 73 % of women who had chosen a SARC method stated that they had received the prescription before discharge. After contraceptive counselling, we reported a significative reduction of "none or natural methods use" and a significant increase of SARC and LARC use compared to before the abortion. CONCLUSION: Contraceptive counselling could allow a better contraceptive choice in patient who required abortion and we hope that future strategies will implement LARC choice. We think that a greater availability of LARC at an affordable price at the time of abortion could improve LARC choice. In case of SARC choice, we have to implement the prescription at hospital discharged.

3.
Sleep Med ; 113: 41-48, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37984016

RESUMO

OBJECTIVE: to prospectively assess sleep and sleep disorders during pregnancy and postpartum in a large cohort of women. METHODS: multicenter prospective Life-ON study, recruiting consecutive pregnant women at a gestational age between 10 and 15 weeks, from the local gynecological departments. The study included home polysomnography performed between the 23rd and 25th week of pregnancy and sleep-related questionnaires at 9 points in time during pregnancy and 6 months postpartum. RESULTS: 439 pregnant women (mean age 33.7 ± 4.2 yrs) were enrolled. Poor quality of sleep was reported by 34% of women in the first trimester of pregnancy, by 46% of women in the third trimester, and by as many as 71% of women in the first month after delivery. A similar trend was seen for insomnia. Excessive daytime sleepiness peaked in the first trimester (30% of women), and decreased in the third trimester, to 22% of women. Prevalence of restless legs syndrome was 25%, with a peak in the third trimester of pregnancy. Polysomnographic data, available for 353 women, revealed that 24% of women slept less than 6 h, and 30.6% of women had a sleep efficiency below 80%. Sleep-disordered breathing (RDI≥5) had a prevalence of 4.2% and correlated positively with BMI. CONCLUSIONS: The Life-ON study provides the largest polysomnographic dataset coupled with longitudinal subjective assessments of sleep quality in pregnant women to date. Sleep disorders are highly frequent and distributed differently during pregnancy and postpartum. Routine assessment of sleep disturbances in the perinatal period is necessary to improve early detection and clinical management.


Assuntos
Complicações na Gravidez , Transtornos do Sono-Vigília , Gravidez , Feminino , Humanos , Lactente , Adulto , Complicações na Gravidez/epidemiologia , Sono , Gestantes , Período Pós-Parto , Transtornos do Sono-Vigília/epidemiologia , Inquéritos e Questionários
4.
Eur J Obstet Gynecol Reprod Biol ; 286: 47-51, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37201318

RESUMO

This cross-sectional study aimed at evaluating the impact of different modalities of induction of labour (IOL) and delivery on levels of woman' satisfaction. All women aged 18 years or older, who underwent IOL for at-term pregnancy (≥41 weeks of gestation) in randomly selected days during the study period in 6 participating centres were eligible for the study. The questionnaire investigated women's opinion regarding information about induction, pain control, length of induction, their experience about induction, labour and delivery and their attitude towards induction in a subsequent pregnancy. Women were also asked to fill in the Italian version of the Birth Satisfaction Scale-Revised (BSS-R). A total of 300 women entered the study. The answer to the question about a "positive attitude towards induction in a subsequent pregnancy was "absolutely yes" or "yes" respectively in the 77.8%, 52.8% and 48.6% of women who were induced with oral drugs, vaginal drugs and Cook balloon (heterogeneity chi-square p = 0.05). The corresponding values for women who delivered vaginally or by caesarean section (CS) were 63.3% and 36.4% (chi-square p = 0.0009). The mean BSS-R total score was higher among women who underwent IOL with oral drugs than with vaginal drugs (p < 0.0001) or Cook Balloon (p < 0.0001), and among women who delivered vaginally than in those who delivered by CS (p < 0.0001). Women were asked "What do you think is important for a method of induction?": 47.3% (95% CI 41.7%-53.0%) of women answered that "should make the induction as painless as possible", 47.0% (95% CI 41.4%-52.7%) "should induce labour quickly", 44.3% (95% CI 38.8%-50.0%) "should be safe for baby". This study showed that vaginal delivery was associated with a higher rate of satisfaction among induced women. Considering mode of induction, oral drugs were associated with a higher level of satisfaction. Control of pain and quick induction were the most appreciated characteristics.


Assuntos
Cesárea , Trabalho de Parto Induzido , Gravidez , Feminino , Humanos , Estudos Transversais , Trabalho de Parto Induzido/métodos , Satisfação Pessoal , Dor
6.
J Clin Med ; 11(15)2022 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-35956169

RESUMO

BACKGROUND AND OBJECTIVES: The study aimed to evaluate the ability defining the risk of developing preeclampsia by a screening test carried out in the first trimester (between 11 + 0 and 13 + 6 weeks of gestational age), in order to identify high-risk women requiring more intensive health surveillance. The secondary objective was to evaluate the ability of this test to predict the risk of adverse obstetric outcomes such as fetal growth restriction, intrauterine fetal death, gestational hypertension, HELLP syndrome, placental abruption, and preterm birth. MATERIALS AND METHODS: This was a single-center study, conducted at the Operative Unit of Obstetrics of the State Hospital of the Republic of San Marino. Medical history was collected at the time of enrolment in writing. Subsequently, obstetric outcomes were collected for each enrolled woman, through the analysis of medical records. RESULTS: From October 2014 to May 2019, 589 pregnant women were recruited, of whom, 474 (80.5%) were included in the "low-risk" group, and 115 (19.5%) in the "high-risk" group. At the time of analysis of this population, the obstetric outcomes were available for 498 women (84.5%), while 91 cases (15.5%) were current pregnancies. The PI of the uterine arteries was not significantly different between the two study groups. Otherwise, a significant difference was highlighted for MAP, which is higher in the case of pregnancies at high risk based on the risk factors only, and for PAPP-A, higher in the case of low-risk pregnancies. Regarding the percentage of fetal DNA, according to the most recent literature data, in our series, we report a statistically significant difference of the average between the low and high-risk groups. CONCLUSIONS: In our study, we demonstrate that the multiparametric screening test for early PE performed well in identifying women at high risk of early PE, which certainly has the most severe maternal-fetal outcomes. The data reported that ASA intake at low doses is significantly higher in the population with high-risk tests for both early PE and late PE suggest once again that anamnestic evaluation plays an essential role in women's screening.

7.
Prenat Diagn ; 41(13): 1694-1700, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34569636

RESUMO

OBJECTIVE: To assess the efficacy of cell-free (cf)DNA screening for aneuploidy using the automated system based on rolling circle replication. METHODS: A prospective study among women referred for invasive prenatal diagnosis between July 2018 and December 2019. The plasma fraction was extracted within 5 days from blood collection, stored at -20°C and cfDNA measured between January and December 2019. RESULTS: A total of 805 women were recruited; 778 with singleton pregnancies and 27 twins. There were 48 Down syndrome, 25 Edwards syndrome and 3 Patau syndrome cases. Overall, the no-call rate was 2.6% (95% confidence interval 1.6%-3.9%) which reduced from 4.7% to 1.1% after relocation of the system (p < 0.002) to ensure a constant ambient temperature below 25°C. In singletons the Down syndrome detection rate (DR) was 100% (93%-100%) and false-positive rate (FPR) 0.14% (0.00%-0.79%). The Edwards syndrome DR was 96% (80%-100%) and FPR 0.78% (0.29%-1.7%). One false-positive had a confined placental trisomy 18 and the remaining five a z-score requiring sample repetition; all the false-positives occurred before system relocation (p < 0.005). Patau syndrome DR and FPR were 67% (9.4%-99%) and 0.26% (0.03%-0.95%). CONCLUSION: The cfDNA rolling circle method yields similar results to other methods provided that room temperature is adequately controlled.


Assuntos
Aneuploidia , Ácidos Nucleicos Livres/análise , Teste Pré-Natal não Invasivo/métodos , Diagnóstico Pré-Natal/métodos , Adulto , Ácidos Nucleicos Livres/sangue , Feminino , Humanos , Teste Pré-Natal não Invasivo/estatística & dados numéricos , Gravidez , Diagnóstico Pré-Natal/estatística & dados numéricos , Estudos Prospectivos
8.
J Perinat Med ; 49(7): 915-922, 2021 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-33939903

RESUMO

OBJECTIVES: Evaluate ultrasound diagnostic accuracy, maternal-fetal characteristics and outcomes in case of vasa previa diagnosed antenatally, postnatally or with spontaneous resolution before delivery. METHODS: Monocentric retrospective study enrolling women with antenatal or postnatal diagnosis of vasa previa at Sant'Anna Hospital in Turin from 2007 to 2018. Vasa previa were defined as fetal vessels that lay 2 cm within the uterine internal os using 2D and Color Doppler transvaginal ultrasound. Diagnosis was confirmed at delivery and on histopathological exam. Vasa previa with spontaneous resolutions were defined as fetal vessels that migrate >2 cm from uterine internal os during scheduled ultrasound follow-ups in pregnancy. RESULTS: We enrolled 29 patients (incidence of 0.03%). Ultrasound antenatally diagnosed 25 vasa previa (five had a spontaneous resolution) while four were diagnosed postnatally, with an overall sensitivity of 96.2%, specificity of 100%, positive predictive value of 96.2%, and negative predictive value of 100%. Early gestational age at diagnosis is significally associate with spontaneously resolution (p 0.023; aOR 1.63; 95% IC 1.18-2.89). Nearly 93% of our patient had a risk factor for vasa previa: placenta previa at second trimester or low-lying placenta, bilobated placenta, succenturiate cotyledon, velametous cord insertion or assisted reproduction technologies. CONCLUSIONS: Maternal and fetal outcomes in case of vasa previa antenatally diagnosed are significally improved. Our data support the evaluation of umbilical cord insertion during routine second trimester ultrasound and a targeted screening for vasa previa in women with risk factor: it allows identification of fetus at high risk, reducing fetal mortality in otherwise healthy newborns.


Assuntos
Ultrassonografia Doppler em Cores , Ultrassonografia Pré-Natal , Vasa Previa/diagnóstico , Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Cuidado Pós-Natal , Gravidez , Cuidado Pré-Natal , Prognóstico , Remissão Espontânea , Estudos Retrospectivos , Sensibilidade e Especificidade , Vasa Previa/patologia , Vasa Previa/terapia
10.
Maturitas ; 147: 47-52, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33744064

RESUMO

INTRODUCTION: Menopause is a critical period for most women who experience associated symptoms while they are still socially and individually active. OBJECTIVES: The objective of this study is to report how Italian women perceive and approach menopause. MATERIALS AND METHODS: A survey of 1028 Italian women aged 45-65 years was conducted by the Italian Center for Studies of Social Investments (CENSIS) through anonymous interviews using two methods: CATI (Computer Assisted Telephone Interviewing) and CAWI (Computer Assisted Web Interviewing). PRINCIPAL OUTCOME MEASURES: Principal outcome measures were women's perceptions and experiences of menopause and its treatments. RESULTS: The global consciousness and understanding of menopause was common (82.8 %) among Italian women and it was usually considered a physiological condition (77 %). Overall, 74.6 % of the sample were postmenopausal. Hot flushes were reported to be the most frequent (37.9 %) and bothersome symptoms (43.1 %) while 12.9 % of the women were asymptomatic. As for menopausal therapies, 24.5 % were on treatment; herbal medications were the most common remedy (63.3 %) whereas 7.6 % of the women took hormone replacement therapy (HRT). About half of the sample (50.4 %) had not sought help from the Italian National Health System (INHS). Medical expertise in the field of menopause was thought to be moderately satisfactory by 54.5 % of the sample. CONCLUSIONS: Italian women consider menopause a physiological condition. Most postmenopausal women had experienced symptoms but relied on non-hormonal treatments. The median women's satisfaction with the role of the INHS and medical competence suggests the need to improve current knowledge and awareness concerning menopause.


Assuntos
Menopausa/psicologia , Idoso , Feminino , Terapia de Reposição Hormonal , Fogachos/terapia , Humanos , Itália , Pessoa de Meia-Idade , Satisfação do Paciente , Inquéritos e Questionários
11.
Ital J Pediatr ; 47(1): 45, 2021 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-33639998

RESUMO

The availability of a COVID-19 vaccine has raised the issue of its compatibility with breastfeeding. Consequently, the Italian Society of Neonatology (SIN), the Italian Society of Pediatrics (SIP), the Italian Society of Perinatal Medicine (SIMP), the Italian Society of Obstetrics and Gynecology (SIGO), the Italian Association of Hospital Obstetricians-Gynecologists (AOGOI) and the Italian Society of Infectious and Tropical Diseases (SIMIT) have made an ad hoc consensus statement. Currently, knowledge regarding the administration of COVID-19 vaccine to the breastfeeding mother is limited. Nevertheless, as health benefits of breastfeeding are well demonstrated and since biological plausibility suggests that the health risk for the nursed infant is unlikely, Italian scientific societies conclude that COVID-19 vaccination is compatible with breastfeeding.


Assuntos
Aleitamento Materno , Vacinas contra COVID-19 , COVID-19/prevenção & controle , Consenso , Feminino , Humanos , Itália , Sociedades Médicas
13.
Eur J Obstet Gynecol Reprod Biol ; 251: 167-172, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32505056

RESUMO

OBJECTIVE(S): Smooth muscle tumors of uncertain malignant potential are rare uterine neoplasms. Their identification through imaging is still limited due to the few available descriptions in the scientific literature. The objective of this paper is to provide clinical and ultrasound features that could support an early identification of these neoplasms. STUDY DESIGN: We retrospectively evaluated preoperative sonographic data of patients receiving a histopathological diagnosis of smooth muscle tumors of uncertain malignant potential between 2014 and 2019 at the S. Anna Hospital (Turin, Italy), a tertiary gynecological center. Tumors were characterized on the basis of ultrasound images using terms and definitions according to the morphological uterus sonographic assessment group. RESULTS: A total of fourteen patients with smooth muscle tumors of uncertain malignant potential (20 lesions, including 18 pure and 2 with associated leiomyosarcoma) were identified. The median age was 47 years (range 28-77) and nine (64%) patients were of reproductive age. Six patients (43%) were asymptomatic, two (14%) presented with abdominal pain, two (14 %) with menorrhagia and four (29%) with both symptoms. Two (14%) patients developed local recurrences as uterine smooth muscle tumor of uncertain malignant potential and leiomyosarcoma, respectively. At ultrasound imaging, nine (69%) smooth muscle tumors of uncertain malignant potential were poorly or moderately vascularized and nine (82%) showed both circumferential and intra-lesional flows. Only three (15%) showed shadowing. The outlines were well-defined in seventeen cases (85%) and most (90%) showed isoechoic or mixed echogenicity with microcystic anechoic areas in fourteen (70%) of cases. CONCLUSION(S): Sonographic features of smooth muscle tumors of uncertain malignant potential may vary and a pathognomonic description has not been recognized. However, the identification of single or multiple lesions with specific ultrasound features should raise the suspicion of tumors of uncertain malignant potential. These features include isoechogenicity or mixed echogenicity, regular borders, presence of internal microcystic and anechoic areas, circumferential and intralesional vascularization ranging from minimal to high and absence of shadowing.


Assuntos
Leiomiossarcoma , Tumor de Músculo Liso , Neoplasias Uterinas , Adulto , Idoso , Feminino , Humanos , Itália , Leiomiossarcoma/diagnóstico por imagem , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Estudos Retrospectivos , Tumor de Músculo Liso/diagnóstico por imagem , Ultrassonografia , Neoplasias Uterinas/diagnóstico por imagem , Útero/diagnóstico por imagem
14.
Eur J Obstet Gynecol Reprod Biol ; 247: 207-211, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32146226

RESUMO

OBJECTIVES: The ADNEX (Assessment of Different NEoplasias in the adneXa) model was developed using parameters collected by experienced (level III) ultrasound examiners. Our primary aim was to externally validate the ADNEX model. Then, the discriminatory performance of ADNEX was compared with the two-step strategy and subjective assessment by an experienced ultrasound operator. METHODS: Between February 2013 and January 2017, all patients who were scheduled for surgery for an adnexal mass at the Sant'Anna Hospital in Turin were enrolled in this study. Preoperative transvaginal sonography was performed, and the two-step strategy was applied for triage of the adnexal mass. Two ultrasound examiners, IOTA certified, applied the ADNEX model to all the collected masses based on the ultrasound reports. Finally, an experienced operator assigned the subjective assessment based on recorded ultrasound images. The discrimination and calibration performance of ADNEX were evaluated. The AUC was calculated for the basic discrimination between benign and malignant tumours. In addition, AUCs were computed for each pair of tumour types using the conditional risk method. RESULTS: A total of 577 patients were included in the analysis: the overall prevalence of malignancy was 25 %. With ADNEX, the AUC to differentiate between benign and malignant masses was 0.9111 (95 % CI 0. 8788-0.9389). At risk cut-offs of 1%, 10 % and 30 %, sensitivities were 100 %, 89.6 % and 79.2 %, respectively, and specificities were 2.8 %, 76.2 % and 89.6 %, respectively. Discrimination between benign and stage II-IV tumours was good (AUC 0.935). The model had the most difficulties discriminating between borderline and stage I tumours (AUC 0.666), and between stages II-IV invasive and secondary metastatic tumours (AUC 0.736). The polytomous discrimination index (PDI) was 0.61 for ADNEX, whereas PDI for random performance would be 0.25. ADNEX proved to be equally or more accurate than the subjective assessment or the two-step strategy in the discrimination between benign and malignant adnexal masses. CONCLUSIONS: the ADNEX model could probably be successfully applied when an expert examiner is not available and, therefore both a subjective assessment and the two-step strategy cannot be performed.


Assuntos
Doenças dos Anexos/diagnóstico por imagem , Neoplasias dos Genitais Femininos/diagnóstico por imagem , Ultrassonografia/estatística & dados numéricos , Adulto , Idoso , Algoritmos , Técnicas de Apoio para a Decisão , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Medição de Risco , Triagem
16.
J Obstet Gynaecol Res ; 46(1): 176-180, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31608528

RESUMO

Uterine arteriovenous malformations are rare conditions with diverse clinical presentation that range from asymptomatic patients to different degrees of menorrhagia, commonly associated with previous pregnancy or uterine trauma. This case report describes a 36-year-old woman who presented with ultrasound diagnosis of interstitial pregnancy on residual right tube stump 4 months after a laparoscopic salpingectomy for extrauterine pregnancy. She started treatment with methotrexate; afterwards serum human chorionic gonadotropin levels and ultrasound follow-ups were scheduled. While serum human chorionic gonadotropin levels were progressively reducing, transvaginal ultrasound follow-ups showed a persistent anechoic mass on right rube stump, with increased peripheral high flow vascularity: highly suspicious for a uterine arteriovenous malformation. A laparoscopy was performed with a tumorectomy of the mass. The histopathological exam of the specimen confirmed uterine arteriovenous malformation. Patient successfully became pregnant 2 years later, with an eventless pregnancy and a vaginal delivery without complications.


Assuntos
Malformações Arteriovenosas/etiologia , Complicações Pós-Operatórias/etiologia , Gravidez Intersticial/etiologia , Salpingectomia/efeitos adversos , Artéria Uterina/anormalidades , Adulto , Tubas Uterinas/patologia , Tubas Uterinas/cirurgia , Feminino , Humanos , Laparoscopia/efeitos adversos , Laparoscopia/métodos , Gravidez , Salpingectomia/métodos
18.
Eur J Obstet Gynecol Reprod Biol ; 242: 86-91, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31574389

RESUMO

OBJECTIVES: To evaluate the accuracy of ultrasound in prenatal diagnosis of Placenta accrete spectrum disorders in patients with posterior placenta previa, and to assess the impact of prenatal diagnosis in our population. STUDY DESIGN: We prospectively enrolled 198 women with posterior placenta previa from 2011 to 2017. We performed transabdominal and transvaginal ultrasound examinations (Grey-scale and colour/power Doppler). The diagnosis of placenta accreta spectrum disorders was based on detection of at least two of the following criteria: loss of retroplacental clear zone, interruption of uterine serosa-bladder wall interface, turbulent placental lacunae with high velocity flow, myometrial thickness <1 mm, increased vascularity of uterine serosa-bladder wall interface, loss of vascular arch parallel to basal plate and/or irregular intraplacental vascularization. Definitive diagnosis was made at delivery with Caesarean section. Furthermore, we compared maternal outcomes in cases diagnosed antenatal versus that one's diagnosed at delivery. RESULTS: There were 20/198 cases of placenta accreta spectrum disorders. The two-criteria system identified 12 cases of placenta accreta, providing a 60.0% of sensitivity, 98.8% of specificity, 85.7% of positive and 95.7% of negative predictive value. Maternal outcomes were better in women with prenatal diagnosis of placenta accreta spectrum disorders, although not statistical significant. CONCLUSIONS: Our data showed that grey-scale and Color-Doppler ultrasound evaluation for detecting placenta accreta spectrum disorders on posterior placenta previa have high specificity, positive and negative predictive value, but a low sensitivity. Nevertheless, an antenatal diagnosis of placenta accreta spectrum disorders for posterior placenta previa should be encouraged.


Assuntos
Placenta Acreta/diagnóstico por imagem , Placenta Prévia/diagnóstico por imagem , Adulto , Feminino , Humanos , Placentação , Gravidez , Estudos Prospectivos , Ultrassonografia Doppler , Ultrassonografia Pré-Natal
19.
Eur J Med Genet ; 62(11): 103578, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30445150

RESUMO

Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by biallelic pathogenic variants in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), variably associated with long bone hypoplasia, horseshoe kidney, venous anomalies, vertebral anomalies, developmental delay, and intellectual disability. Here, we report the case of a woman who interrupted her pregnancy after ultrasound scans revealed a depression of the frontal bone, posterior fossa anomalies, cerebral ventricular enlargement, cleft spine involving the sacral and lower-lumbar vertebrae, and bilateral microphthalmia. Micrognathia, four fingers in both feet and a slight tibial bowing were added to the clinical picture after fetal autopsy. Exome sequencing identified two variants in the SMOC1 gene, each inherited from one of the parents: c.709G>T - p.(Glu237*) on exon 8 and c.1223G>A - p.(Cys408Tyr) on exon 11, both predicted to be pathogenic by different bioinformatics software. Brain histopathology showed an abnormal cortical neuronal migration, which could be related to the SMOC1 protein function, given its role in cellular signaling, proliferation and migration. Finally, we summarize phenotypic and genetic data of known MLA cases showing that our case has some unique features (Chiari II malformation; focal neuropathological alterations) that could be part of the variable phenotype of SMOC1-associated diseases.


Assuntos
Micrognatismo/genética , Microftalmia/genética , Neurônios/patologia , Osteonectina/genética , Adulto , Alelos , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Movimento Celular/genética , Criança , Consanguinidade , Éxons/genética , Feminino , Feto , Homozigoto , Humanos , Lactente , Deformidades Congênitas dos Membros , Masculino , Micrognatismo/diagnóstico , Micrognatismo/diagnóstico por imagem , Micrognatismo/fisiopatologia , Microftalmia/diagnóstico por imagem , Microftalmia/fisiopatologia , Mutação , Linhagem , Análise de Sequência de DNA
20.
Gynecol Obstet Invest ; 84(3): 242-247, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30448828

RESUMO

BACKGROUND/AIMS: Abnormally invasive placenta (AIP) includes placenta accreta, increta, and percreta and represents major complications of pregnancy. This study was designed to assess the role of ultrasonography in the identification of AIP among pregnant women with antepartum diagnosis of placenta previa. METHODS: A cross-sectional study was performed between May 2015 and April 2016 in 11 centers, including 242 women with antepartum diagnosis of placenta previa. RESULTS: Ninety-eight out of 242 (40.49%) women had a histological diagnosis of placenta accreta. A higher number of caesarean deliveries (p = 0.001) and curettages (p = 0.027) and older age of the woman at the delivery (p = 0.031) were identified as risk factors for placenta accreta. The presence of irregularly shaped placental lacunae (vascular spaces) within the placenta (p = 0.008), protrusion of the placenta into the bladder (p < 0.0001), and turbulent blood flow through the lacunae on Doppler ultrasonography (p = 0.008) were predictors of placenta accreta. CONCLUSIONS: Women with a prior delivery by caesarean section have a high incidence of placenta accreta among women with antepartum diagnosis of placenta previa.


Assuntos
Placenta Acreta/diagnóstico , Placenta Prévia/diagnóstico , Diagnóstico Pré-Natal , Adulto , Cesárea/efeitos adversos , Estudos Transversais , Feminino , Humanos , Idade Materna , Placenta/irrigação sanguínea , Placenta/diagnóstico por imagem , Placenta Acreta/diagnóstico por imagem , Placenta Acreta/epidemiologia , Gravidez , Fatores de Risco , Ultrassonografia Doppler , Ultrassonografia Pré-Natal
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