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1.
Am J Obstet Gynecol MFM ; 6(6): 101370, 2024 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-38648897

RESUMEN

OBJECTIVE: Counseling of pregnancies complicated by pre- and periviable premature rupture of membranes to reach shared decision-making is challenging, and the current limited evidence hampers the robustness of the information provided. This study aimed to elucidate the rate of obstetrical and neonatal outcomes after expectant management for premature rupture of membranes occurring before or at the limit of viability. DATA SOURCES: Medline, Embase, CINAHL, and Web of Science databases were searched electronically up to September 2023. STUDY ELIGIBILITY CRITERIA: Our study included both prospective and retrospective studies of singleton pregnancies with premature rupture of membranes before and at the limit of viability (ie, occurring between 14 0/7 and 24 6/7 weeks of gestation). METHODS: Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale for cohort studies. Moreover, our study used meta-analyses of proportions to combine data and reported pooled proportions. Given the clinical heterogeneity, a random-effects model was used to compute the pooled data analyses. This study was registered with the International Prospective Register of Systematic Reviews database (registration number: CRD42022368029). RESULTS: The pooled proportion of termination of pregnancy was 32.3%. After the exclusion of cases of termination of pregnancy, the rate of spontaneous miscarriage or fetal demise was 20.1%, whereas the rate of live birth was 65.9%. The mean gestational age at delivery among the live-born cases was 27.3 weeks, and the mean latency between premature rupture of membranes and delivery was 39.4 days. The pooled proportion of cesarean deliveries was 47.9% of the live-born cases. Oligohydramnios occurred in 47.1% of cases. Chorioamnionitis occurred in 33.4% of cases, endometritis in 7.0%, placental abruption in 9.2%, and postpartum hemorrhage in 5.3%. Hysterectomy was necessary in 1.2% of cases. Maternal sepsis occurred in 1.5% of cases, whereas no maternal death was reported in the included studies. When focusing on neonatal outcomes, the mean birthweight was 1022.8 g in live-born cases. The neonatal intensive care unit admission rate was 86.3%, respiratory distress syndrome was diagnosed in 66.5% of cases, pulmonary hypoplasia or dysplasia was diagnosed in 24.0% of cases, and persistent pulmonary hypertension was diagnosed in 40.9% of cases. Of the surviving neonates, the other neonatal complications included necrotizing enterocolitis in 11.1%, retinopathy of prematurity in 27.1%, and intraventricular hemorrhage in 17.5%. Neonatal sepsis occurred in 30.2% of cases, and the overall neonatal mortality was 23.9%. The long-term follow-up at 2 to 4 years was normal in 74.1% of the available cases. CONCLUSION: Premature rupture of membranes before or at the limit of viability was associated with a great burden of both obstetrical and neonatal complications, with an impaired long-term follow-up at 2 to 4 years in almost 30% of cases, representing a clinical challenge for both counseling and management. Our data are useful when initially approaching such patients to offer the most comprehensive possible scenario on short- and long-term outcomes of this condition and to help parents in shared decision-making.

2.
J Matern Fetal Neonatal Med ; 36(2): 2253956, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38092425

RESUMEN

OBJECTIVE: The aim of this review is to evaluate the relationship between the use of non-steroidal anti-inflammatory drugs (NSAIDs) during last trimesters of the pregnancy and the reduction of amniotic fluid. METHODS: Electronic databases were searched (PubMed, Medline, and Scopus). Selection criteria included studies reporting the relationship between oligohydramnios and use of NSAID during pregnancy. We analyzed the median age of women, weeks of pregnancy at the beginning of the drug administration, kind of medication, period of exposure and dosage, deepest vertical pocket (DVP), and amniotic fluid index (AFI). RESULTS: Of the 68 records identified, we analyzed 29 studies investigating the administration of NSAIDs, including 11 studies examined the administration of the Indomethacin, four articles have focused on the use of Nimesulide, and only two manuscripts considered the use of Diclofenac. We found a strict correlation between the development of oligohydramnios and the use of NSAIDs. The oligohydramnios is reversible, and the normal amount of amniotic fluid is restored after the interruption of the treatment. CONCLUSIONS: The use of NSAIDs should be considered when maternal benefits outweigh the potential fetal risk, at the lowest effective dose for shortest duration. Beyond 48 h of NSAIDs treatment, we consider ultrasound monitoring of amniotic fluid, and we suggest stopping therapy if a decline AFI is present.


Asunto(s)
Oligohidramnios , Embarazo , Femenino , Humanos , Oligohidramnios/inducido químicamente , Oligohidramnios/diagnóstico por imagen , Líquido Amniótico/diagnóstico por imagen , Antiinflamatorios no Esteroideos/efectos adversos , Tercer Trimestre del Embarazo , Ultrasonografía , Resultado del Embarazo
3.
J Clin Ultrasound ; 51(7): 1172-1178, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37553773

RESUMEN

Echogenic fetal bowel (EB) is a prenatal ultrasound finding (0.2%-1.4% of all pregnancies) defined as bowel of similar or greater echogenicity than surrounding bone. In fact, the ultrasound assessment is strongly subjective with inter-observer variability. The pathophysiology depends on the underlying condition, apparently related with meconium stasis and hypercellularity. It is often an isolated finding, with possible association with other structural anomalies. About the origin, it was observed in fetuses with cystic fibrosis, congenital infections, thalassemia, intraamniotic bleeding, fetal growth restriction. Fetuses with EB are at increased risk of adverse perinatal outcome, such as intrauterine growth restriction, placental dysfunction and perinatal death, highlighting the need for a thorough antenatal management and post-natal follow-up. It seems to be associated with a plenty of conditions, such as a poor fetal outcome, fetal growth restriction and placental dysfunction. Therefore management requires a multidisciplinary approach with different specialties' involvement and the prognosis is influenced by the underlying pathophysiology. In this complex scenario, the present review aims to define the clinical pathway which should be offered to pregnant women in case of finding of fetal EB ultrasound marker, to rule out any suspected pathological cause.


Asunto(s)
Intestino Ecogénico , Resultado del Embarazo , Embarazo , Femenino , Humanos , Retardo del Crecimiento Fetal/diagnóstico por imagen , Ultrasonografía Prenatal , Placenta/diagnóstico por imagen , Diagnóstico Prenatal , Feto
4.
Eur J Obstet Gynecol Reprod Biol ; 288: 83-89, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37481990

RESUMEN

OBJECTIVE: To evaluate maternal and perinatal outcomes of removal versus retention of cervical cerclage after premature preterm rupture of membranes (pPROM). STUDY DESIGN: Medline, Embase and Cochrane databases were searched electronically on February 2023 utilizing combinations of the relevant medical subject heading (MeSH) terms, keywords, and word variants that were considered suitable for the topic. Either prospective or retrospective trials were considered suitable for the inclusion. The coprimary outcome of this study were pregnancy latency >7 days from pPROM and pregnancy latency >48 h from pPROM. Random effect head to-head meta-analyses were performed to directly compare each outcome, expressing the results as summary odds ratio (OR) for dichotomous outcomes and as mean difference (MD) for continuous outcomes, plus relative 95% confidence interval (CI). Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale. RESULTS: Six studies involving a total of 377 women (169 in the "removal" and 208 in the "retention" group) were included. The rate of pregnancy prolongation >48 h was significantly lower in the removal compared to retention group (OR 0.15, 95% CI 0.07-0.31; p < 0.0001), as well as the rate of pregnancy prolongation >7 days (OR 0.30 95% CI 0.11-0.83; p = 0.02) and pregnancy latency expressed in days (MD -2.84 days, 95% CI -5.40 to -0.29; p = 0.03). The rate of chorioamnionitis was significantly lower in the removal compared to the retention group (OR 0.57 95% CI 0.34-0.96p = 0.03) as was the rate of Apgar score < 7 at 5 min (OR 0.22 95% CI 0.08-0.56; p = 0.002). There was no difference between removal and retention groups for all the other maternal and perinatal outcomes. CONCLUSIONS: The decision whether to remove or retain cerclage in case of pPROM should balance the prematurity-related risks with that of infectious complications, thus highlighting the need for tailored management based on gestational age at occurrence of pPROM.


Asunto(s)
Cerclaje Cervical , Rotura Prematura de Membranas Fetales , Nacimiento Prematuro , Embarazo , Recién Nacido , Femenino , Humanos , Estudios Retrospectivos , Estudios Prospectivos , Rotura Prematura de Membranas Fetales/epidemiología , Resultado del Embarazo , Nacimiento Prematuro/etiología , Nacimiento Prematuro/prevención & control
5.
J Perinat Med ; 51(7): 861-864, 2023 Sep 26.
Artículo en Inglés | MEDLINE | ID: mdl-37067781

RESUMEN

Management of severe thrombocytopenia, particularly of ITP, in pregnancy is mainly based on expert consensus and clinical experience while there are no clear indications about the minimum platelet count requested for prenatal diagnosis invasive procedures. Since the lack of specific recommendations we reported our clinical management of a patient suffering from severe thrombocytopenia, undergoing amniocentesis. Due to the anecdotic possibility of maternal and fetal bleeding in case of severe thrombocytopenia, prophylaxis with IVIG or even corticosteroids could be considered as a safer strategy to prevent post-procedural adverse outcomes.


Asunto(s)
Diagnóstico Prenatal , Trombocitopenia , Embarazo , Femenino , Humanos , Diagnóstico Prenatal/métodos , Amniocentesis/efectos adversos , Trombocitopenia/diagnóstico , Trombocitopenia/etiología , Atención Prenatal , Recuento de Plaquetas , Muestra de la Vellosidad Coriónica/efectos adversos
6.
J Clin Ultrasound ; 51(2): 240-248, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36468281

RESUMEN

Foramen ovale is a small communication between the left and the right atrium and its restriction is a rare congenital heart anomaly. There is no consensus on diagnosis and management of fetal restrictive foramen ovale (RFO). In our paper we included 11 studies about fetuses affected by isolated RFO, RFO with D-Transposition of the Great Arteries (dTGA) and RFO with hypoplastic left heart syndrome (HLHS). While fetuses affected from HLHS and dTGA with RFO have a poor prognosis, premature RFO in an otherwise structurally normal heart, if found in later gestation, have an overall good outcome.


Asunto(s)
Foramen Oval , Cardiopatías Congénitas , Transposición de los Grandes Vasos , Femenino , Embarazo , Humanos , Foramen Oval/diagnóstico por imagen , Ultrasonografía Prenatal , Estudios Retrospectivos , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/diagnóstico por imagen , Ecocardiografía , Corazón Fetal/diagnóstico por imagen
7.
J Clin Med ; 11(23)2022 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-36498701

RESUMEN

Perforation of the ileum in the antepartum period resulting in meconial peritonitis is a condition that, although rare, is burdened by several complications. In 80-90% of cases, meconial ileus is the first manifestation of a disease, cystic fibrosis. In the remaining 10-20% of cases, it is caused by other situations, such as prematurity. In most cases, the diagnosis of meconial ileus occurs after birth, although in some cases it can be suspected prenatally, with the finding of a hyperechoic intestine on second trimester ultrasound. The prognosis depends on the gestational age, the location of the obstruction and the presence of fetal abnormalities. Mortality is very high and the recovery of intestinal function in the postoperative course is very high risk. In this case series, we describe two meconial peritonitis and our experience at the center.

8.
J Clin Med ; 11(22)2022 Nov 14.
Artículo en Inglés | MEDLINE | ID: mdl-36431217

RESUMEN

Background: Congenital heart diseases (CHDs) are often associated with significant neurocognitive impairment and neurological delay. This study aims to elucidate the correlation between type of CHD and Doppler velocimetry and to investigate the possible presence of fetal brain abnormalities identified by magnetic resonance imaging (MRI). Methods: From July 2010 to July 2020, we carried out a cross-sectional study of 63 singleton pregnancies with a diagnosis of different types of complex CHD: LSOL (left-sided obstructive lesions; RSOL (right-sided obstructive lesions) and MTC (mixed type of CHD). All patients underwent fetal echocardiography, ultrasound evaluation, a magnetic resonance of the fetal brain, and genetic counseling. Results: The analysis of 63 fetuses shows statistically significant results in Doppler velocimetry among the different CHD groups. The RSOL group leads to higher umbilical artery (UA-PI) pressure indexes values, whereas the LSOL group correlates with significantly lower values of the middle cerebral artery (MCA-PI) compared to the other subgroups (p = 0.036), whereas the RSOL group shows a tendency to higher pulsatility indexes in the umbilical artery (UA-PI). A significant correlation has been found between a reduced head circumference (HC) and the presence of brain injury at MRI (p = 0.003). Conclusions: Congenital left- and right-sided cardiac obstructive lesions are responsible for fetal hemodynamic changes and brain growth impairment. The correct evaluation of the central nervous system (CNS) in fetuses affected by CHD could be essential as prenatal screening and the prediction of postnatal abnormalities.

9.
Cytotherapy ; 24(4): 376-384, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35086779

RESUMEN

The fetal liver is unique because of the coexistence of cells with endodermal and mesenchymal origins, making it a potential source of hepatic and pancreatic regenerative medicine. The liver appears at about the third week of gestation, growing rapidly from the fifth to the 10th week. We define fetal liver from 10 weeks of gestation, when hematopoietic progenitor cells gradually migrate from the aorta-mesonephros-gonad region to colonize the liver. Indeed, the fetal liver may be the most available source of cell therapy for liver disease. We conducted a review of the literature using Medline and EMBASE (up to May 2021) to identify clinical studies in which patients with liver disease had been given fetal liver cell therapy. This literature review highlighted the heterogeneity of cell isolation and selection protocols, which hinders the ability to pool data and perform a meta-analysis. A limitation of the studies analyzed was the scarcity of reports (n = 8) and the extremely small sample sizes (median sample size of treated patients was two), although there was a fairly long follow-up (median 12 months). The weeks after conception ranged from 16 to 34. There were no randomized controlled trials, and therefore no study was stratified as being of good methodological quality. Cryopreservation may help to circumvent the critical logistic issues that hamper the use of fetal liver cell therapy in clinical practice. To help consolidate the role of the fetal liver in regenerative medicine, good preclinical translational studies are necessary, whereas tracing strategies and biopsy-based endpoints are crucial in the clinic, along with well-designed, large, multicenter, randomized controlled trials using clinically applicable primary outcomes and refined imaging assessment.


Asunto(s)
Hepatopatías , Tratamiento Basado en Trasplante de Células y Tejidos , Hepatocitos , Humanos , Hepatopatías/terapia , Metaanálisis como Asunto , Estudios Multicéntricos como Asunto , Resultado del Tratamiento
10.
J Matern Fetal Neonatal Med ; 35(25): 7296-7305, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34219595

RESUMEN

INTRODUCTION: The aim of our systematic review and meta-analysis was to evaluate the risk of neural tube defects (NTDs) according to the pre-pregnancy body mass index. MATERIALS AND METHODS: Electronic databases were searched (MEDLINE, EMBASE, Web of Sciences, Scopus, ClinicalTrial.gov, OVID, and Cochrane Library). Selection criteria included prospective and retrospective cohort studies reporting the prevalence of fetal NTDs in obese, overweight, and underweight pregnant women. Odds ratios (ORs) comparing risk among these subsets of pregnancies with normal weight mothers were determined with 95% confidence intervals (CI). The evaluated outcome was the association between maternal underweight, overweight, and obesity and the risk of NTDs. RESULTS: We included ten studies published between 2000 and 2017, including underweight, overweight, and obese pregnant women with fetal NTD (cases) and pregnant women with recommended BMI with fetal NTD (controls). Compared with normal BMI women, obese mothers were at significantly higher risk of fetal NTDs (0.53 vs. 0.33%; OR 1.62 95% CI 1.32-1.99, p < .0001), while no difference for the risk of NTDs was found when comparing overweight (0.34 vs. 0.32%; OR 1.09 95% CI 0.92-1.3, p = .3) and underweight (0.65 vs. 0.24%; OR 1.34 95% CI 0.73-2.47, p = .34) with normal weight pregnant women. DISCUSSION: Obese pregnant women are at significantly higher risk NTDs, while no significant difference has been found in overweight and underweight pregnant women. Key message Obese pregnant women are at significantly higher risk of NTDs, such as spina bifida compared with normal weight women. No difference was found when comparing overweight and underweight with normal weight women.


Asunto(s)
Defectos del Tubo Neural , Sobrepeso , Femenino , Embarazo , Humanos , Índice de Masa Corporal , Sobrepeso/complicaciones , Sobrepeso/epidemiología , Delgadez/complicaciones , Delgadez/epidemiología , Estudios Prospectivos , Estudios Retrospectivos , Factores de Riesgo , Defectos del Tubo Neural/epidemiología , Defectos del Tubo Neural/etiología , Obesidad/complicaciones , Obesidad/epidemiología
11.
J Matern Fetal Neonatal Med ; 35(25): 8897-8904, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34809513

RESUMEN

OBJECTIVE: To assess the relationship between the presence of the sonographic finding of chorionic bump (CB) during first trimester and miscarriage rate or other perinatal outcomes. METHODS: PubMed, Medline, Embase, Cinahl and Clinicaltrials.gov databases, from inception to April 8, 2021 were explored utilizing combinations of the relevant medical subject heading (MeSH) terms, key words, and word variants for "CB" and "pregnancy." Prospective and retrospective case-control studies were eligible for inclusion. Odds ratios (ORs) comparing obstetrical outcomes among pregnancies with CB and normal pregnancies were determined with 95% confidence intervals (CI) using random-effects models. Primary outcome of interest was miscarriage rate. Secondary outcomes were: alive newborns (ANB) rate, adverse pregnancy outcomes (APO) and vaginal bleeding. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale. RESULTS: Five studies including 173 pregnant women with CB (study group) and 1,263 pregnant women without CB (control group) were included. Pregnancies affected by CB resulted to be associated with a significantly higher miscarriage rate (43.3% vs 20.7%; OR 2.95 95% CI 2.02-4.31, p < .00001), and conversely with a significantly lower rate of ANB (60.3% vs 82%; OR 0.35 95% CI 0.20-0.63, p = .0004). In addition, the risk of APO was around three-fold higher in the study group (52.2% vs 4.12%; OR 2.98 95% CI 1.04-8.51, p = .04), while the rate of vaginal bleeding was higher in the study group, without reaching a statistical significance (48% vs 16.4%; OR 2.21 95% CI 0.64-7.65 p = .21). DISCUSSION: The presence of CB at first trimester ultrasound significantly increases the risk of miscarriage and APO, and intact the rate of ANB. This article is protected by copyright. All rights reserved. Key message: The presence of CB on early first trimester ultrasound increases three-fold the risk of miscarriage and adverse pregnancy outcomes and reduces the rate of alive newborns. It is important to consider CB as an ultrasound marker that requires a close surveillance throughout pregnancy to prevent long-term complications and provide adequate counseling to the patient.


Asunto(s)
Aborto Espontáneo , Embarazo , Recién Nacido , Femenino , Humanos , Primer Trimestre del Embarazo , Aborto Espontáneo/epidemiología , Aborto Espontáneo/etiología , Estudios Retrospectivos , Estudios Prospectivos , Hemorragia Uterina/diagnóstico por imagen , Hemorragia Uterina/etiología , Hemorragia Uterina/epidemiología
12.
Eur J Obstet Gynecol Reprod Biol ; 267: 105-110, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34773875

RESUMEN

OBJECTIVE: The aim of this study was to report the rate of additional anomalies detected exclusively at prenatal magnetic resonance imaging (MRI) in fetuses with isolated severe ventriculomegaly undergoing neurosonography. METHOD: Multicenter, retrospective, cohort study involving 20 referral fetal medicine centers in Italy, United Kingdom, Spain and Denmark. Inclusion criteria were fetuses affected by isolated severe ventriculomegaly (≥15 mm), defined as ventriculomegaly with normal karyotype and no other additional central nervous system (CNS) and extra-CNS anomalies on ultrasound. In all cases, a multiplanar assessment of fetal brain as suggested by ISUOG guidelines on fetal neurosonography had been performed. The primary outcome was the rate of additional CNS anomalies detected exclusively at fetal MRI within two weeks from neurosonography. Subgroup analyses according to gestational age at MRI (

Asunto(s)
Hidrocefalia , Ultrasonografía Prenatal , Estudios de Cohortes , Femenino , Feto , Humanos , Hidrocefalia/diagnóstico por imagen , Imagen por Resonancia Magnética , Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos
13.
Case Rep Womens Health ; 32: e00364, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34765461

RESUMEN

INTRODUCTION: The use of mifepristone and misoprostol for the induction of a second-trimester abortion is common and effective. However, its safety in women with previous cesarean delivery is still controversial, given the potentially higher risk of uterine rupture. CASE PRESENTATION: We present the case of a 30-year-old woman (G2P1) who experienced vesicouterine rupture with escape of the dead fetus into the bladder during second-trimester induced abortion after prior cesarean delivery. She was successfully managed with conservative surgery. CONCLUSION: This case highlights the challenges of early diagnosis of vesicouterine rupture during second-trimester medical abortion. We argue that a close monitoring of patients with prior cesarean section is mandatory, particularly if uterine contractions suddenly stop or the fetal head fails to descend. A prompt conservative surgical approach allows preservation of fertility.

15.
Minerva Obstet Gynecol ; 73(2): 247-252, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33851804

RESUMEN

Twin-to-twin transfusion syndrome (TTTS) is a serious complication that affects approximately 10-15% of monochorionic twin pregnancies. The most important role for the development of this condition is the presence of an unbalanced flow through the inter-twin vascular anastomoses. Depending on the number, type and direction of the connecting vessels, blood can be transfused disproportionately from one twin (the donor) to the other twin (the recipient). The diagnosis is defined prenatally by ultrasound and involves of two main criteria: the presence of a monochorionic diamniotic (MCDA) pregnancy; and the presence of oligohydramnios in the donor's sac- deep vertical pocket (DVP) 2 cm - and polyhydramnios in the recipient's sac- DVP>8 cm. Once diagnosed, TTTS is usually graded by using the Quintero staging system, that is composed by five stages, from oligohydramnios in the donor and polyhydramnios in the recipient twin to fetal demise in one or both twins. Photocoagulation of the anastomotic vessels, usually followed by equatorial dichorionization, it has currently become the most common fetoscopic operation today and is considered as the gold standard for stage II-IV TTTS. pPROM, chorioamniotic separation and iatrogenic preterm birth are among the most common complications of fetoscopic laser ablation, and the mean gestational age at delivery after laser procedure is about 31 weeks.


Asunto(s)
Transfusión Feto-Fetal , Terapia por Láser , Nacimiento Prematuro , Consejo , Femenino , Transfusión Feto-Fetal/cirugía , Fetoscopía/efectos adversos , Humanos , Recién Nacido , Embarazo
16.
Genet Med ; 23(6): 1116-1124, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33568805

RESUMEN

PURPOSE: Recent studies have identified suggestive prenatal features of RASopathies (e.g., increased nuchal translucency [NT], cystic hygroma [CH], hydrops, effusions, congenital heart diseases [CHD], polyhydramnios, renal anomalies). Our objective is to clarify indications for RASopathy prenatal testing. We compare genotype distributions between pre- and postnatal populations and propose genotype-phenotype correlations. METHODS: Three hundred fifty-two chromosomal microarray-negative cases sent for prenatal RASopathy testing between 2012 and 2019 were collected. For most, 11 RASopathy genes were tested. Postnatal cohorts (25 patients with available prenatal information and 108 institutional database genotypes) and the NSeuroNet database were used for genotypic comparisons. RESULTS: The overall diagnostic yield was 14% (50/352), with rates >20% for effusions, hydrops, and CHD. Diagnostic yield was significantly improved in presence of hypertrophic cardiomyopathy (HCM), persistent or associated CH, any suggestive finding combined with renal anomaly or polyhydramnios, or ≥2 ultrasound findings. Largest prenatal contributors of pathogenic variants were PTPN11 (30%), RIT1 (16%), RAF1 (14%), and HRAS (12%), which considerably differ from their prevalence in postnatal populations. HRAS, LZTR1, and RAF1 variants correlated with hydrops/effusions, and RIT1 with prenatal onset HCM. CONCLUSION: After normal chromosomal microarray, RASopathies should be considered when any ultrasound finding of lymphatic dysplasia or suggestive CHD is found alone or in association.


Asunto(s)
Cardiopatías Congénitas , Medida de Translucencia Nucal , Estudios de Cohortes , Femenino , Feto , Estudios de Asociación Genética , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/genética , Humanos , Embarazo , Factores de Transcripción , Ultrasonografía Prenatal
17.
Fetal Pediatr Pathol ; 40(6): 626-637, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32070177

RESUMEN

AimCorpus callosum hypoplasia is described as a fully formed corpus callosum with reduced thickness. Our purpose is to evaluate the current knowledge about this anomaly including it's effect on the neurodevelopmental outcome and to report our single center experience. Methods: PubMed, Medline and reference lists were searched using combinations of these terms: "Hypoplasia of corpus callosum and prenatal diagnosis" and "neurodevelopmental outcome". Results: Eleven studies were included, with a final population of 48 patients (45 cases from literature plus 3 of our own cases). Hypoplasia of the corpus callosum was detected by ultrasound scan alone in 77% of cases: magnetic resonance confirmed the ultrasound suspicion in the remaining 23% of cases. Isolated form was detected in 31% cases. Adverse fetal outcomes occurred in 62% of cases, while 38% of cases were born alive. The neurodevelopmental outcome was found to be normal in 33% of cases. Conclusion: Antenatal detection of corpus callosum hypoplasia remains challenging. Counseling is difficult because neurodevelopmental outcomes are variable.


Asunto(s)
Agenesia del Cuerpo Calloso , Cuerpo Calloso , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Embarazo , Diagnóstico Prenatal , Ultrasonografía , Ultrasonografía Prenatal
18.
Tumori ; 107(1): 12-16, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32180534

RESUMEN

Adnexal masses are not common in pregnancy. They are often discovered incidentally during routine ultrasound examinations. In general, 24%-40% of the cases are benign tumors; up to 8% are malignant tumors. Adnexal masses are usually asymptomatic, but sometimes can be responsible for abdominal or pelvic pain. Transvaginal and transabdominal ultrasound is essential to define the morphology of pelvic masses and to distinguish between benign and malignant cases. Magnetic resonance imaging can be a complementary examination when ultrasound findings are equivocal and a useful additional examination to better define tissue planes and relations with other organs. Patient counseling can be challenging because there is no clear consensus on the management of adnexal masses during pregnancy. Treatment options consist of observational management (in case of asymptomatic women with reassuring instrumental findings) or surgery (via laparoscopy or laparotomy). Surgery can be offered as a primary tool when cancer is suspected or when acute complications such as ovarian torsion occur.


Asunto(s)
Enfermedades de los Anexos/cirugía , Neoplasias/cirugía , Neoplasias Pélvicas/cirugía , Complicaciones Neoplásicas del Embarazo/cirugía , Enfermedades de los Anexos/diagnóstico , Enfermedades de los Anexos/diagnóstico por imagen , Enfermedades de los Anexos/patología , Adulto , Femenino , Humanos , Laparoscopía , Laparotomía , Imagen por Resonancia Magnética , Neoplasias/diagnóstico , Neoplasias/diagnóstico por imagen , Neoplasias/patología , Neoplasias Pélvicas/diagnóstico , Neoplasias Pélvicas/diagnóstico por imagen , Neoplasias Pélvicas/patología , Embarazo , Complicaciones Neoplásicas del Embarazo/diagnóstico , Complicaciones Neoplásicas del Embarazo/diagnóstico por imagen , Complicaciones Neoplásicas del Embarazo/patología
19.
J Perinat Med ; 49(3): 327-332, 2021 Mar 26.
Artículo en Inglés | MEDLINE | ID: mdl-33095754

RESUMEN

OBJECTIVES: Congenital cytomegalovirus (cCMV) infection can negatively affect pregnancy outcomes, but may be prevented by simple precautions. Literature suggests that gynaecologists do not always adequately inform about preventive behaviour and most pregnant women have a low-level knowledge regarding cCMV infection. The aim of this study is to evaluate knowledge and risk behaviours related to cCMV infection in an unselected group of pregnant women. METHODS: An institutional based cross-sectional study was conducted in three Maternal and Fetal Divisions in Rome between November and February 2019 on 296 pregnant women, their knowledge on cCMV was measured using six cytomegalovirus (CMV) related questions. RESULTS: Out of the 296 respondents, 59.1% had heard, read or seen information about cCMV infection. Regarding the way of transmission, 96/296 (32.4%) correctly recognize children as a potential source of the infection but only 25/296 (8.44%) knew all prevention practices, 28/296 (9.5%) of women reported that they have never performed cCMV test during pregnancy. CONCLUSIONS: The results of this survey show that knowledge on cCMV infection among pregnant women is poor. This highlights the need to improve counselling on all preventive practices for cCMV infection during perinatal care consultation.


Asunto(s)
Infecciones por Citomegalovirus , Transmisión Vertical de Enfermedad Infecciosa/prevención & control , Complicaciones Infecciosas del Embarazo , Mujeres Embarazadas , Conducta de Reducción del Riesgo , Adulto , Estudios Transversales , Citomegalovirus/aislamiento & purificación , Infecciones por Citomegalovirus/congénito , Infecciones por Citomegalovirus/prevención & control , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Italia/epidemiología , Evaluación de Necesidades , Educación del Paciente como Asunto/métodos , Embarazo , Complicaciones Infecciosas del Embarazo/diagnóstico , Complicaciones Infecciosas del Embarazo/prevención & control , Complicaciones Infecciosas del Embarazo/psicología , Mujeres Embarazadas/educación , Mujeres Embarazadas/psicología
20.
Eur J Obstet Gynecol Reprod Biol ; 254: 170-174, 2020 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-32992237

RESUMEN

OBJECTIVES: The aim of this study was to evaluate obstetrical and perinatal outcomes in fetuses with short femur length diagnosed before or after 24 weeks of gestation. STUDY DESIGN: This was a prospective cohort study on singleton pregnancies with a diagnosis of fetal femur < 5 centile. Included patients were divided into two groups: patients with a first diagnosis of femur length < 5th percentile at 14-24 weeks (group A) and those with the first diagnosis made at > 24 weeks (group B). RESULTS: 147 patients were included for the analysis. Group A and group B included 66 (44.9%) and 81 (55.1%) cases. Abnormal fetal karyotype and skeletal dysplasia rates were significantly higher (27.3% vs 3.7%,P < 0.001 and 19.7% vs 3.7%, P = 0.002) in group A. Women in group B had a higher incidence of small for gestational age and intrauterine growth restriction (7.6% vs 24.7%, P = 0.007 and 19.7% vs 44.4%, P = 0.002). There was a significant higher incidence of live births in group B (34.9% vs 97.5%, P < 0.001), while the rate of termination of pregnancy was increased in group A (56.1% vs 1.2%, P < 0.001). No significant difference was found in perinatal outcomes of live births, when comparing group A and B. CONCLUSIONS: The incidence of abnormal karyotype and skeletal dysplasia is higher when short femur length diagnosed earlier in gestation, while the incidence of small for gestational age, intrauterine growth restriction and the rate of live births are significantly increased when short femur length is diagnosed later during pregnancy.


Asunto(s)
Retardo del Crecimiento Fetal , Ultrasonografía Prenatal , Estudios de Cohortes , Femenino , Fémur/diagnóstico por imagen , Retardo del Crecimiento Fetal/diagnóstico por imagen , Feto , Edad Gestacional , Humanos , Recién Nacido , Embarazo , Estudios Prospectivos
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