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1.
J Obstet Gynaecol Can ; 46(10): 102643, 2024 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-39214249

RESUMO

OBJECTIVES: To examine the relation between maternal pre-delivery BMI and the accuracy of sonographic estimated fetal weight (EFW) in very preterm infants (<32 weeks gestation). METHODS: This retrospective study included singleton infants born between January 2010 and March 2023, at gestational ages 230 to 316 weeks, at a tertiary university-affiliated hospital. Absolute weight, percentage error, absolute percentage error, and overestimation and underestimation of EFW were compared between women with pre-delivery normal weight (BMI 18.5-24.99 kg/m2), overweight (BMI 25.0-29.99 kg/m2), and obesity (BMI >35.0 kg/m2). Multivariate linear regression analyses adjusted for potential confounders were performed to assess relations of maternal pre-conception and of pre-delivery BMI, with EFW accuracy. RESULTS: Included were 286 pregnancies. The absolute difference, percentage error, absolute percentage error, error within the 10% range, and underestimation or overestimation of EFW were similar between the groups. The multivariate linear regression analyses did not show significant associations of pre-conceptional BMI or of pre-delivery BMI with the percentage error. However, for small for gestational age compared to appropriate for gestational age fetuses, the percentage error was greater (8.9% vs. -0.6%, ß = 0.35, P < 0.001) and the absolute percentage error was greater (11.0% vs. 6.7%, P < 0.001). Small for gestational age fetuses were at risk of fetal weight overestimation (percentage error exceeding 15%); OR 7.20 (95% CI 2.91-17.80). CONCLUSIONS: Maternal pre-delivery BMI was not found to be related to EFW accuracy in very preterm infants. Nevertheless, EFW should be interpreted carefully, as it may underdiagnose poor fetal growth in this population.

2.
Arch Gynecol Obstet ; 310(1): 113-119, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38345766

RESUMO

PURPOSE: The cerebroplacental ratio is a sonographic tool used to predict poor pregnancy outcomes. Data are insufficient regarding its use in postdate pregnancy. We evaluated the cerebroplacental ratio's prediction of unfavorable pregnancy outcomes in women at 40-42 weeks gestation with normal amniotic fluid index. METHODS: This prospective observational study included 101 women with low-risk singleton pregnancy and gestational age > 40 weeks who delivered in a university affiliated hospital during 2020-2021. The middle cerebral artery pulsatility index, the umbilical artery pulsatility index, and the cerebroplacental ratio, which is their quotient, were compared between women with favorable and unfavorable pregnancy outcomes. The latter included: meconium-stained amniotic fluid, cesarean or vacuum-assisted delivery due to pathological cardiotocography (category 2 or 3), 5-min Apgar score < 7, umbilical cord pH < 7.1, neonatal intensive care unit admission, and neonatal death. RESULTS: Fetal Doppler, performed at a median gestational age of 40.3 (40.0-41.6), did not differ between 75 (74.3%) women with favorable obstetrical outcomes and 26 (25.7%) with unfavorable outcomes. In multivariate analysis, advanced maternal age and a history of a cesarean section were correlated with unfavorable outcomes, while Doppler indices were not found to be predictive. Among women at 41-42 weeks' gestation, for those with intrapartum fetal monitor category 2-3 vs. category 1, the mean umbilical artery pulsatility index was higher: 0.92 ± 0.34 vs. 0.71 ± 0.11 (p = 0.044). CONCLUSION: According to the study results, fetal Doppler indices, including the cerebroplacental ratio, are not predictive of unfavorable outcome in women with pregnancies exceeding 40 weeks. Larger prospective studies are needed.


Assuntos
Idade Gestacional , Artéria Cerebral Média , Resultado da Gravidez , Fluxo Pulsátil , Ultrassonografia Pré-Natal , Artérias Umbilicais , Humanos , Feminino , Gravidez , Artérias Umbilicais/diagnóstico por imagem , Estudos Prospectivos , Adulto , Artéria Cerebral Média/diagnóstico por imagem , Ultrassonografia Doppler , Valor Preditivo dos Testes , Recém-Nascido , Gravidez Prolongada/diagnóstico por imagem
3.
Arch Gynecol Obstet ; 2024 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-39133292

RESUMO

OBJECTIVE: Early diagnosis of retained products of conception (RPOC) is critical for directing clinical management and for preventing associated complications. This study aimed to evaluate the utility of post-delivery ultrasound in patients with risk factors for RPOC. STUDY DESIGN: A retrospective cohort-study was conducted in a single tertiary university-affiliated hospital (January 2016-September 2022). Sonographic evaluation, including endometrium thickness measurement and color Doppler, were reviewed of women with risk factors for RPOC: postpartum hemorrhage, a hemoglobin drop > 4 g/dl, manual removal of the placenta, and suspicious placenta. Results of early postpartum ultrasound (within 48 h), misoprostol administration and hysteroscopies were evaluated. RESULTS: Of the 591 women included, RPOC was suspected in 141 (24%). Endometrial thickness > 5 mm was associated with sonographic RPOC diagnosis in 58%. Suspected sonographic RPOC was concluded for 100%, 92% and 7% of the women with marked, moderate, and undetectable vascularity, respectively, p < 0.001. Misoprostol 1000 mcg per rectum (PR) was administered to 86% of those with suspected RPOC; only 11% of them needed an operative hysteroscopy for removal of the RPOC. RPOC on a pathology report was confirmed for 71% of those who underwent hysteroscopy. CONCLUSIONS: Postpartum transabdominal ultrasonography within 48 h of delivery was effective for assessing RPOC. For appropriate triage, color Doppler grading increased the accuracy of RPOC diagnosis. Misoprostol treatment was successful in 88% of women with suspected sonographic RPOC. The combination of sonographic evaluation and misoprostol treatment for suspected RPOC might lower the rate of unnecessary invasive procedures.

4.
Fetal Diagn Ther ; 51(1): 85-91, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37903468

RESUMO

INTRODUCTION: The aim of this study was to examine the efficacy of pneumatic compression of the maternal lower extremities in increasing the amniotic fluid index (AFI) in pregnancies complicated by isolated oligohydramnios. METHODS: Women with isolated oligohydramnios (AFI <5 cm) at 32-41 weeks of pregnancy were connected to a sequential compression device for 60 min. Prior and after the application, AFI and the pulsatility index (PI) of a number of arteries were measured. RESULTS: The median (interquartile range) maternal age of the 21 women included was 29 years (26.50-32.00), the median parity was 1 (1-2), and the median gestational age at intervention was 37.60 weeks (37.00-39.40). The median AFI increased after the application from 4.00 (3.62-4.50) to 6.08 cm (4.90-7.03) (p < 0.001). The median PI of the fetal renal artery decreased from 2.30 (2.01-2.88) to 2.26 (1.68-2.71) (p = 0.01). The hourly fetal urine production did not increase. Changes were not significant in the PI of the umbilical artery, the middle cerebral artery, and the bilateral uterine arteries. CONCLUSION: Short-term activation of pneumatic compression on maternal lower extremities could increase the AFI in women with isolated oligohydramnios.


Assuntos
Líquido Amniótico , Oligo-Hidrâmnio , Gravidez , Feminino , Humanos , Adulto , Lactente , Líquido Amniótico/fisiologia , Oligo-Hidrâmnio/diagnóstico por imagem , Sangue Fetal , Terceiro Trimestre da Gravidez , Artéria Renal , Perfusão
5.
Fetal Diagn Ther ; : 1-6, 2024 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-39173605

RESUMO

INTRODUCTION: Limited evidence exists on borderline oligohydramnios. Our objective was to determine perinatal outcomes in uncomplicated term pregnancies with borderline oligohydramnios. METHODS: This retrospective analysis compared adverse perinatal outcomes among pregnancies during 2018-2022, between those with borderline oligohydramnios defined as amniotic fluid index (AFI) of 5.1-8.0 cm, those with oligohydramnios (AFI ≤5 cm), and those with normal AFI (8.1-25 cm). The latter matched one-to-one to the borderline oligohydramnios group and served as the control group. The outcomes compared included birthweight, cesarean delivery due to fetal distress, the presence of meconium-stained amniotic fluid, Apgar scores, neonatal intensive care unit admission, and the occurrence of small-for-gestational-age (SGA) neonates. RESULTS: During the study period, 140 women had borderline oligohydramnios and 345 had oligohydramnios; the control group included 140 women. Borderline oligohydramnios was associated with increased rates of delivering SGA neonates (adjusted odds ratio [aOR] = 3.6, 95% confidence interval [CI] 1.1-11.6, p = 0.034) and cesarean delivery due to fetal distress (aOR = 3.0, 95% CI 1.1-8.3, p = 0.032). Rates of composite neonatal outcome (including at least one of the following: cesarean delivery due to fetal distress, meconium-stained amniotic fluid, 5-min Apgar score <7, umbilical artery pH <7.15, or neonatal intensive care unit admission) were higher in both the borderline oligohydramnios (20.7%) and oligohydramnios (18.6%) groups compared to the control group (9.3%) (p = 0.019). CONCLUSIONS: Pregnancies with borderline oligohydramnios were associated with increased risks of delivering SGA neonates and requiring cesarean delivery due to fetal distress. These findings support considering closer antepartum surveillance for these pregnancies, especially for identifying abnormal fetal growth.

6.
Isr Med Assoc J ; 26(4): 236-239, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38616669

RESUMO

BACKGROUND: The cavum septi pellucidi (CSP) is a brain-enclosed cavity located on the midline between the two leaflets of the septum pellucidum that separates the lateral ventricles. This structure develops in the fetus from week 18 and can be seen up to week 37 in almost all cases and then begins to disappear. OBJECTIVES: To measure and determine the normative values of the CSP volume in fetuses between 20 to 40 weeks of gestation. METHODS: The study comprised 161 consecutive pregnant women between 20 to 40 weeks of gestation with single viable fetuses. All patients had normal, disease-free pregnancies. Transvaginal or transabdominal ultrasound was used according to the fetal presentation. The fetal head was assessed in mid-sagittal sections. Once the CSP was visualized, its volume was measured using three-dimensional ultrasound with Virtual Organ Computer-aided Analysis software. The width of the CSP was also measured at the biparietal diameter (BPD) plane. RESULTS: Of the 161 fetuses, the CSP volume was measured in 158. In three patients the CSP was not identified. The CSP volume correlated poorly with gestational age (r=0.229) and with the BPD (r=0.295). The mean CSP volume was 0.508 ± 0.372 ml (range: 0.03-1.78 ml). The simple measurement of the CSP width correlated better with gestational age (r=0.535) and the BPD (r=0.484). CONCLUSIONS: The CSP volume had a poor correlation with gestational age; however, the volume did not exceed 2 ml regardless of gestational age. This information can be used to assess pathologies involving the CSP.


Assuntos
Feto , Septo Pelúcido , Humanos , Feminino , Gravidez , Septo Pelúcido/diagnóstico por imagem , Idade Gestacional , Encéfalo
7.
J Obstet Gynaecol Res ; 49(1): 289-295, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36268674

RESUMO

AIM: Adnexal torsion remains a diagnostic challenge due to the nonspecific symptoms, sonographic features, and laboratory findings. The value of combining clinical, sonographic, and laboratory features is not well established, and controversy continues regarding their value in diagnosis. This study aimed to review sonographic, clinical, and laboratory features and to analyze their value separately and in combination, in managing and diagnosing adnexal torsions. METHODS: The study included 278 women who underwent urgent laparoscopic surgery due to suspected adnexal torsion, according to clinical suspicion, with or without sonographic concordance. Laparoscopy findings confirmed the definitive diagnosis of torsion. Clinical laboratory and sonographic features were compared between those with and without adnexal torsion. RESULTS: Adnexal torsion was confirmed in 110/278 (39.6%) women. In the torsion compared to nontorsion group, proportions were higher of women with acute abdominal pain in the preceding 24 h ([50] 45.5% vs. [35] 20.8%, p < 0.001), with vomiting ([45] 40.9% vs. [24] 14.3%, p < 0.001) and with suspected torsion by transvaginal sonography ([49] 44.5% vs. [23] 13.7%, p < 0.001). A high neutrophil-to-lymphocyte ratio (>3) was identified in 65 (59.1%) of the study group and 60 (35.7%) of the control group (p < 0.001). Combining the latter three findings, the predicted probability of torsion was 58%-85%, depending on the combinations. CONCLUSIONS: A simple predictive model based on combinations of clinical, laboratory, and sonographic findings can contribute to preoperative diagnosis of adnexal torsion, with predicted probability of 85%. Our model may assist clinicians in evaluating women with suspected adnexal torsion, and improve preoperative diagnostic accuracy.


Assuntos
Doenças dos Anexos , Torção Ovariana , Feminino , Humanos , Masculino , Estudos de Casos e Controles , Doenças dos Anexos/diagnóstico por imagem , Doenças dos Anexos/cirurgia , Estudos Retrospectivos , Neutrófilos , Anormalidade Torcional/diagnóstico por imagem , Anormalidade Torcional/cirurgia
8.
J Cancer Educ ; 38(4): 1391-1396, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36914922

RESUMO

Human papillomavirus (HPV) is a small, non-enveloped, double-stranded DNA virus, belonging to the family of Papillomaviridae. It is a highly common infectious agent, which causes one of the most widespread sexually transmitted infections (STIs), involving approximately 20% of sexually active female adolescents and up to 80% of female adults aged 50 years. There exist two major preventative strategies: namely, anti-HPV vaccination and cervical screening. Healthcare providers, including nurses, can play a crucial role in HPV immunization campaigns, counteracting vaccine hesitancy and doing advocacy and counseling. To explore the overall knowledge of HPV and HPV-related issues, as well as the attitudes and practices of Israeli nurses, a modified and adapted, previously validated knowledge, attitudes, and practices (KAP) questionnaire was administered to a sample of 565 participants, 481 female (85.1%) and 84 male (14.9%). Most of them were married (n = 428, 75.8%), with more than 5 years of experience (n = 405, 71.7%), working in the general/internal medicine ward (n = 432, 76.5%), and Jewish (n = 352, 62.3%). Only 87 nurses (15.4%) got vaccinated against HPV. Forty-four (9.1%) of the female nurses never underwent a Pap smear. Higher percentages of right replies were reported only for the item related to available preventative strategies for cervical cancer (82.1% versus 17.9%). Higher percentages of wrong replies were reported for items related to body regions that can be infected by HPV (60.5% versus 39.5%), percentage of girls aged 15-18 years being sexually active (68.0% versus 32.0%). Similar percentages of right and wrong replies were reported for items related to whom the Pap test is recommended (52.7% versus 47.3%), Israeli Ministry of Health's guidelines for anti-HPV vaccination (50.4% versus 49.6%), and percentage of boys aged 15-18 years being sexually active (44.4% versus 55.6%). Concerning the reliability of the third section of the questionnaire, Cronbach's alpha was deemed to be acceptable (α = 0.64). Statistically significant determinants of reporting lower scores in HPV-related attitudes and practices were religion (OR 1.44 [95%CI 1.02-2.04]), and male offspring (OR 1.22 [1.03-1.44]). This study has important implications for policy- and decision-makers in that they should be aware of the overall poor and unsatisfactory level of HPV-related knowledge among Israeli nurses and implement multipronged HPV vaccine promotion programs, taking into account the challenges of a multicultural and diverse society like Israel.


Assuntos
Enfermeiras e Enfermeiros , Infecções por Papillomavirus , Vacinas contra Papillomavirus , Neoplasias do Colo do Útero , Adulto , Adolescente , Humanos , Masculino , Feminino , Papillomavirus Humano , Israel , Detecção Precoce de Câncer , Reprodutibilidade dos Testes , Neoplasias do Colo do Útero/diagnóstico , Vacinação/psicologia , Papillomaviridae , Atitude do Pessoal de Saúde , Vacinas contra Papillomavirus/uso terapêutico , Inquéritos e Questionários , Conhecimentos, Atitudes e Prática em Saúde
9.
Am J Obstet Gynecol ; 227(3): 515.e1-515.e9, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35500613

RESUMO

BACKGROUND: Preeclampsia is a multisystem disorder and the leading cause of severe morbidity and death in pregnancy. Liver involvement in preeclampsia ranges from elevated liver enzyme levels to hepatic infarction or rupture. Endothelial dysfunction leads to changes in blood flow and congestion and may be involved in the pathophysiology of preeclampsia. Changes in splanchnic blood flow and portal congestion can lead to altered liver stiffness. Transient elastography is a noninvasive, ultrasound-based technique that measures organ stiffness and steatosis and is therefore widely used in clinical hepatology. Previous studies reported elevated liver stiffness and liver steatosis, as measured by transient elastography, in women with preeclampsia. OBJECTIVE: This study followed changes in liver stiffness and steatosis, as measured by transient elastography, from the antepartum period to 1-week postpartum among women with preeclampsia compared with healthy controls and evaluated the association between preeclampsia severity and transient elastography results. STUDY DESIGN: This prospective cohort study was conducted from 2017 through 2021. The study group comprised women with preeclampsia, and the control group comprised healthy pregnant women hospitalized for other reasons. All the participants underwent transient elastography either on diagnosis of preeclampsia (study group) or on hospital admission (control group) and again in the postpartum period. Liver stiffness measurements are expressed in kilopascals (kPa) in the range of 2.5 to 75 kPa, and liver steatosis is expressed by controlled attenuation parameter in the range of 100 to 400 dB/m. RESULTS: The study group comprised 36 women and the control group 37. Liver stiffness scores were significantly elevated in the study when compared with the control group, both in the antepartum period (P<.001) and the postpartum period (P=.025). Liver stiffness scores decreased significantly after delivery in the study and control groups (P<.001 and P=.002, respectively). Liver steatosis scores were higher in the study group than in the control group both in the antepartum and postpartum periods (P<.001 and P<.02, respectively). In the multivariable analysis, the diagnosis of preeclampsia correlated with higher antepartum liver stiffness scores (P=.005). For the study group, postpartum liver stiffness and liver steatosis scores were increased among those with vs those without severe features of preeclampsia (P=.03 and P=.04, respectively) CONCLUSION: Reductions in liver stiffness and steatosis from the antepartum to the postpartum period were documented in both the preeclampsia and control groups. However, both these measures were higher in the preeclampsia group and correlated with preeclampsia severity. Larger studies may be able to determine whether transient elastography can predict the severity of preeclampsia or other related metabolic conditions that correlate with chronic hypertension.


Assuntos
Técnicas de Imagem por Elasticidade , Fígado Gorduroso , Hepatopatias , Pré-Eclâmpsia , Técnicas de Imagem por Elasticidade/métodos , Fígado Gorduroso/diagnóstico por imagem , Feminino , Humanos , Fígado/diagnóstico por imagem , Gravidez , Estudos Prospectivos
10.
Artigo em Inglês | MEDLINE | ID: mdl-36068725

RESUMO

BACKGROUND: Placenta accreta spectrum (PAS) represents life-threatening conditions; however, early diagnosis reduces complications and mortality rates. AIMS: To develop and evaluate the accuracy of a simple sonographic screening test for PAS prediction. MATERIALS AND METHODS: A retrospective case-control study of 481 women with singleton pregnancies at 28 weeks or later, with a scarred uterus or placenta praevia, who underwent sonographic testing for PAS detection during 2010-2020. We compared demographic and sonographic features, and delivery outcomes between women who were and were not confirmed to have a PAS condition at delivery. We evaluated the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and predictive probability for the sonographic screening model. RESULTS: Among all the women with at least one sonographic sign (large lacunae or loss of clear zone), the odds ratio (OR) of PAS was 21.7 (95% CI, 16.7-70.4), among those with placenta praevia (and at least one sonographic sign), the OR was 41.9 (95% CI, 15.8-111). For the screening model (the combinations of placental location (major or minor placenta praevia) with at least one sonographic sign (large lacunae or loss of clear zone)), sensitivity, specificity, PPV, NPV and predicted probability were 94.9% (85.8-98.9%), 91.5% (88.4-93.9%), 60.9% (50.1-70.9%), 99.2% (97.7-99.8%) and 92.3%, respectively. CONCLUSIONS: A combination of simple ultrasound signs for PAS screening may be highly effective for prenatal assessment and prediction of placenta accreta. This screening test can be carried out as routine pregnancy follow-up for women with risk factors for PAS.

11.
J Obstet Gynaecol ; 42(5): 1169-1173, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35152819

RESUMO

Pregnant women with previous caesarean delivery might suffer from acute lower abdominal pain located at the site of previous caesarean scar (CS). The association between this complaint and uterine rupture (UR) is not fully understood. Therefore, we aimed to examine the risk of UR in women with acute persistent abdominal pain (APAP) over a previous CS and to investigate all the women with UR, with or without APAP and with or without previous CS, in order to determine risk factors, clinical presentation and management. We performed a retrospective analysis on two study groups: women who had APAP over previous CS and women who had UR. We found an incidence of UR in patients with APAP over the previous CS was 0.7%; which doubled the total UR rate among women with previous caesarean in our medical centre (0.35%). Forty percent of the women with APAP over a previous CS had preterm delivery. Twenty percent of the cases of UR occurred in preterm weeks. To conclude, APAP over a previous CS is associated with a doubled risk of UR. Considering this symptom as a preliminary sign of UR might lead to elevated rate of iatrogenic preterm deliveries.Impact statementWhat is already known on this subject? Women with UR may present with abdominal pain which may vary from non-specific mild discomfort to severe acute abdominal pain. Additionally, these women may suffer from acute persistent abdominal pain (APAP) located over the previous caesarean scar. The clinical significance of APAP in these women has not been fully investigated.What do the results of this study add? Lower abdominal pain located at the site of previous CS is associated with a doubled risk of UR. Considering this complaint as a major sign of UR might lead to an elevated rate of iatrogenic preterm deliveries.What are the implications of these findings for clinical practice and/or further research? Further studies are needed to explore whether women with a single complaint of APAP over CS could be managed expectantly and even offered a trial of labour after caesarean delivery (CD).


Assuntos
Ruptura Uterina , Nascimento Vaginal Após Cesárea , Feminino , Humanos , Recém-Nascido , Gravidez , Dor Abdominal/etiologia , Cesárea/efeitos adversos , Cicatriz/complicações , Doença Iatrogênica , Estudos Retrospectivos , Ruptura Uterina/epidemiologia , Ruptura Uterina/etiologia , Nascimento Vaginal Após Cesárea/efeitos adversos
12.
J Ultrasound Med ; 40(1): 41-47, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32946138

RESUMO

OBJECTIVES: Aplasia and hypoplasia of the major salivary glands, particularly the parotid glands, were reported to be associated with trisomy 21. This study aimed to evaluate the value of first-trimester nonvisualization of the parotid gland in a high-risk population of fetuses with increased nuchal translucency (NT). METHODS: A single-center prospective observational cohort study was conducted. The feasibility of imaging the parotid gland was assessed in 100 sequential cases of routine low-risk NT scans. In a 2-dimensional image in an axial plane at the level of the fetal mandible, the parotid glands appear as bilateral hyperechoic round areas. Cases referred for counseling for an NT measured above the 95th percentile for gestational age were evaluated for visualization of the parotid glands. Prenatal findings were correlated with fetal genetic analysis results. RESULTS: Forty-two cases with increased NT constituted the final study group. Within the group with nonvisualization of the parotid gland, genetic testing revealed 9 cases of trisomy 21, 3 cases of trisomy 18, and 1 case of monosomy X. The sensitivity and specificity of nonvisualization of the parotid gland as a predictor of aneuploidy were 76% and 80%, respectively. The positive likelihood ratio, negative likelihood ratio, and relative risk were 3.82 (95% confidence interval [CI], 1.67-8.74), 0.29 (95% CI, 0.12-0.71), and 4.33 (95% CI, 1.69-11.09; P < .01). The negative predictive value was 95.14%. CONCLUSIONS: First-trimester nonvisualization of the parotid gland may constitute a potential method for detection of aneuploid fetuses within a high-risk population.


Assuntos
Medição da Translucência Nucal , Glândula Parótida , Aneuploidia , Feminino , Feto , Humanos , Glândula Parótida/diagnóstico por imagem , Gravidez , Primeiro Trimestre da Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal
13.
Clin Genet ; 98(4): 402-407, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32683677

RESUMO

COG6-congenital disorder of glycosylation (COG6-CDG) is caused by biallelic mutations in COG6. To-date, 12 variants causing COG6-CDG in less than 20 patients have been reported. Using whole exome sequencing we identified two siblings with a novel homozygous deletion of 26 bp in COG6, creating a splicing variant (c.518_540 + 3del) and a shift in the reading frame. The phenotype of COG6-CDG includes growth and developmental retardation, microcephaly, liver and gastrointestinal disease, hypohydrosis and recurrent infections. We report two patients with novel phenotypic features including bowel malrotation and ambiguous genitalia, directing attention to the role of glycoprotein metabolism in the causation of disorders of sex development (DSD). Searching the glycomic literature, we identified 14 CDGs including males with DSD, a feature not previously accentuated. This study broadens the genetic and phenotypic spectrum of COG6-CDG and calls for increasing awareness to the central role of glycosylation processes in development of human sex and genitalia.


Assuntos
Proteínas Adaptadoras de Transporte Vesicular/genética , Defeitos Congênitos da Glicosilação/genética , Transtornos do Desenvolvimento Sexual/genética , Oxigenases de Função Mista/genética , Defeitos Congênitos da Glicosilação/mortalidade , Defeitos Congênitos da Glicosilação/fisiopatologia , Transtornos do Desenvolvimento Sexual/mortalidade , Transtornos do Desenvolvimento Sexual/fisiopatologia , Feminino , Glicosilação , Homozigoto , Humanos , Recém-Nascido , Masculino , Mutação/genética , Fenótipo , Deleção de Sequência/genética , Irmãos , Sequenciamento do Exoma
14.
J Obstet Gynaecol Res ; 46(7): 1104-1109, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32406562

RESUMO

AIM: Methotrexate (MTX) is an efficient treatment for ectopic pregnancy, used according to 'single-dose' protocol. Treatment success is evaluated on days 4 and 7 after dose administration, and defined as a decline of ≥15% in beta-human chorionic gonadotropin (ß-hCG) levels, with a positive predictive value of 93%. A decrease on day 4 ß-hCG levels was determined to be a good predictor for treatment success. We retrospectively examined changes in ß-hCG levels between days 0 and 4 after MTX treatment as an early predictor for treatment outcome. METHODS: The 'success group' consisted of patients with resolved ectopic pregnancy after a single MTX dose and 'failure group' included patients who required additional MTX doses or underwent surgery after the first dose. For each group, demographic and pregnancy data were analyzed as well as initial (admission day), days 0, 4 and 7 ß-hCG levels. RESULTS: Of 159 women included in the study, MTX treatment was successful in 117 patients (73.6%) while 42 patients (26.4%) were defined as treatment failure. In the success group, most patients (58.9%) demonstrated a decrease in ß-hCG values between days 0 and 4 as opposed to the failure group in which an increase in ß-hCG values was observed (76.2%). Decrease of >18% in ß-hCG levels was predictive of treatment success (positive predictive value 92%). Increase in ß-hCG values is less predictive of treatment failure with positive predictive value of 54%. CONCLUSION: Differences in ß-hCG levels between days 0 and 4 may serve as an early predictor for treatment outcome.


Assuntos
Abortivos não Esteroides , Gravidez Ectópica , Gravidez Tubária , Gonadotropina Coriônica , Gonadotropina Coriônica Humana Subunidade beta , Feminino , Humanos , Metotrexato , Gravidez , Gravidez Ectópica/tratamento farmacológico , Estudos Retrospectivos , Resultado do Tratamento
15.
J Clin Ultrasound ; 45(9): 600-602, 2017 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-28186623

RESUMO

Accessory spleens are congenital foci of healthy splenic tissue that are separate from the main body of the spleen. They occur in 10-30% of individuals; a wandering accessory spleen located in the pelvis is uncommon. Most patients are asymptomatic. We describe the case of a female adolescent presenting with acute abdominal pain who had a pelvic accessory spleen that mimicked an adnexal mass. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 45:600-602, 2017.


Assuntos
Baço/anormalidades , Esplenopatias/diagnóstico por imagem , Ultrassonografia/métodos , Dor Abdominal/etiologia , Adolescente , Diagnóstico Diferencial , Feminino , Humanos , Pelve/diagnóstico por imagem , Pelve/cirurgia , Baço/diagnóstico por imagem , Baço/cirurgia , Esplenopatias/complicações , Esplenopatias/cirurgia
16.
Isr Med Assoc J ; 19(1): 12-14, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28457107

RESUMO

BACKGROUND: The congenital absence of salivary glands has been reported in children but never in fetuses with trisomy 21. OBJECTIVES: To determine whether the congenital absence of salivary glands can be detected prenatally between 13 and 16 weeks of gestation in normal and trisomy 21 fetuses using transvaginal ultrasound. METHODS: We performed a retrospective analysis of recordings of normal and trisomy 21 fetuses. Inclusion criteria were a single viable fetus and good visualization of the anatomic area of the salivary glands on both sides of the fetal face. All videos were reviewed by one examiner who reported the presence or absence of one or more salivary glands and was blinded to the fetal karyotype. RESULTS: Of the 45 videos reviewed, 4 were excluded from the study: namely, a non-viable fetus, twin pregnancy, and in 2 there was unsatisfactory visualization of the anatomic area of the salivary glands. Of the remaining 41 fetuses, 24 had trisomy 21 and 17 were normal. In the trisomy 21 fetuses, 8 (33.3%) had congenital absence of one or more salivary glands compared to 1 of 17 normal fetuses (5.9%) (P < 0.05). CONCLUSIONS: Congenital absence of the salivary glands has a high specificity but low sensitivity for detecting trisomy 21 fetuses.


Assuntos
Síndrome de Down/diagnóstico , Glândulas Salivares/anormalidades , Ultrassonografia Pré-Natal , Estudos de Casos e Controles , Feminino , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Estudos Retrospectivos
17.
Arch Gynecol Obstet ; 292(5): 1051-4, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25911546

RESUMO

PURPOSE: To evaluate the successful medical termination of pregnancy comparing two regimens: misoprostol 2 or 48 h after mifepristone administration. DESIGN: Prospective randomized study. SETTING: Department of Obstetrics and Gynecology. SAMPLE: One hundred pregnant women admitted for medical termination of pregnancy were enrolled; no pregnancies were over 55 days gestational age. METHODS: All subjects were randomly assigned for misoprostol administration either 2 or 48 h after mifepristone. All participants underwent transvaginal ultrasound examination for uterine contents 48 h and 3 weeks after mifepristone. MAIN OUTCOME MEASURE: Procedure failure, defined as the presence of fetal heart activity, presence of a gestational sac, or a need for uterine curettage after misoprostol administration. RESULTS: Each group consisted of 50 women. Fetal heart activity was significantly more frequent after 48 h in the 2-h interval group (10/50) than in the 48-h interval group (0/50) (p = 0.002). Three weeks after misoprostol administration, fetal heart activity was present in 4/50 (8 %) in the 2-h interval group (p = 0.118) and none of the 48-h interval group. At 48 h residual tissue was present in 13/50 (26 %) and 5/50 (10 %) in the 2 and 48-h interval groups, respectively (p = 0.031); this was reduced to 12/50 (24 %) compared to 5/50 (10 %) in the two groups, respectively (p = 0.054) after 3 weeks. CONCLUSIONS: Successful medical termination of pregnancy can be achieved using misoprostol administration 2 h after mifepristone in 76 % of cases. However, this regimen is not recommended as it is significantly inferior to the traditional 48-h interval regimen.


Assuntos
Abortivos não Esteroides/administração & dosagem , Abortivos Esteroides/administração & dosagem , Aborto Induzido/métodos , Mifepristona/administração & dosagem , Misoprostol/administração & dosagem , Adulto , Esquema de Medicação , Feminino , Movimento Fetal , Idade Gestacional , Humanos , Avaliação de Resultados em Cuidados de Saúde , Gravidez , Estudos Prospectivos , Útero
18.
Prenat Diagn ; 34(8): 748-52, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24633633

RESUMO

OBJECTIVE: This study aimed to compare the associations of crown-rump length (CRL) discrepancy with birthweight discordance in spontaneous versus vitro fertilization (IVF) conceived dichorionic twin pregnancies. METHOD: A computerized retrospective study of women referred to our ultrasonographic unit for nuchal translucency examination between January 1997 and December 2011. The study group was subdivided into twins conceived after IVF, non-IVF fertility treatment and spontaneously conceived twins. Birthweight discordance was defined as a difference of birthweights of >20%. RESULTS: A total of 688 dichorionic twin pregnancies were included, all of them ending in live birth of both twins. IVF-conceived pregnancies were associated with a significant increased risk of extreme birthweight discordance compared with spontaneous-conceived twin pregnancies (OR = 2.3; CI = 1.4-3.8, P < 0.001). A significant correlation was found between CRL discrepancy and birthweight discordance in spontaneous-conceived pregnancies (r = 0.15, P < 0.05). In contrast, there was no significant correlation between CRL discrepancy and birthweight discordance in both IVF and fertility treatment-conceived pregnancies. CONCLUSION: Because birthweight discordance in IVF-conceived twins did not correlate with CRL discrepancy, we assume that it emerges later in pregnancy, maybe related to maternal underplaying complications, for which IVF was indicated in the first place.


Assuntos
Peso ao Nascer , Estatura Cabeça-Cóccix , Fertilização in vitro , Gêmeos , Adulto , Feminino , Desenvolvimento Fetal , Humanos , Gravidez , Estudos Retrospectivos
19.
J Obstet Gynaecol Res ; 40(3): 686-93, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24246065

RESUMO

AIM: To obtain and study new data on the dynamics of the labor process and to develop a contraction-based index of labor progress. METHODS: This study was carried out at the Delivery Room, Department of Obstetrics and Gynecology, Western Galilee Hospital, Nahariya, Israel, using a new device (Birth Track). We continuously monitored cervical dilatation (CD) and head descent (HD) in 30 nulliparaous women during active labor with (augmented group) and without (study group) oxytocin augmentation. This led to the development and validation of progress indices based on features extracted from continuous monitoring. RESULTS: There were no significant differences between the average of each parameter in the study and augmented groups, except for HD velocity. Average HD velocity was faster in the study group. Linear regression analyses demonstrated that head station (HS) amplitude and Toco amplitude were the best parameters for predicting HD velocity in both groups. In the study group, average HD velocity was also significantly related to Toco rate and contraction efficiency. In the augmented group, only a weak correlation with Toco rate was seen, and no correlation with contraction efficiency. CONCLUSION: With the assistance of the Birth Track device, we can obtain continuous data on the labor process and indices to estimate the labor progress process without the use of vaginal (manual) examination.


Assuntos
Monitorização Fetal/métodos , Primeira Fase do Trabalho de Parto , Segunda Fase do Trabalho de Parto , Contração Uterina , Monitorização Uterina/métodos , Adulto , Analgesia Epidural , Analgesia Obstétrica , Feminino , Monitorização Fetal/instrumentação , Humanos , Israel , Primeira Fase do Trabalho de Parto/efeitos dos fármacos , Segunda Fase do Trabalho de Parto/efeitos dos fármacos , Unidade Hospitalar de Ginecologia e Obstetrícia , Ocitócicos , Ocitocina , Guias de Prática Clínica como Assunto , Gravidez , Contração Uterina/efeitos dos fármacos , Monitorização Uterina/instrumentação , Adulto Jovem
20.
Harefuah ; 153(9): 522-3, 559, 2014 Sep.
Artigo em Hebraico | MEDLINE | ID: mdl-25417487

RESUMO

The increase in maternal age at birth, especially in modern countries, has led to increased prevalence of trisomies and other chromosomal disorders. Recently, with the discovery of the possibility to test cell free fetal DNA (cffDNA) in maternal blood, the role of the screening methods applied to detect fetuses with trisomies and triploidy, i.e. the nuchal translucency and the first and second trimester biochemical markers and fetal anomaly scan, are questionable. Meanwhile, most studies stilL show that cffDNA have a certain percentage of false positive and false negative results and different detection rates depending on the method used to analyze the fetal DNA. Meanwhile the vast majority of trisomy 13 and 18 triploidy is detected using biochemical screening and ultrasound. Therefore, the conventional screening methods should be applied and suspected cases should be karyotyped using an invasive test until we gain more experience in the cffDNA tests.


Assuntos
Transtornos Cromossômicos/diagnóstico , Diagnóstico Pré-Natal/métodos , Triploidia , Trissomia/diagnóstico , Biomarcadores/sangue , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 18 , Feminino , Humanos , Idade Materna , Medição da Translucência Nucal/métodos , Gravidez , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Síndrome da Trissomia do Cromossomo 13 , Síndrome da Trissomía do Cromossomo 18
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