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1.
Ultrasound Obstet Gynecol ; 63(4): 507-513, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-37724632

RESUMEN

OBJECTIVE: To investigate the overall and type-specific prenatal detection rates (DRs) of orofacial clefts in a national cohort in Denmark. METHODS: This study was based on data from the Danish Fetal Medicine Database and included all fetuses and children from singleton pregnancies diagnosed with an orofacial cleft prenatally and/or postnatally between 2009 and 2018. The types of cleft included unilateral, bilateral or median cleft lip (CL); unilateral, bilateral or median cleft lip with secondary cleft palate (CLP); and cleft palate (CP). The clefts were grouped as cleft lip with or without cleft palate (CL(P)) or as all clefts (including CP). All cases with discordance between prenatal and postnatal diagnoses were validated in the local patient files (Astraia). Cases without prenatal validation of the postnatal diagnosis were marked as undetected. Postnatally diagnosed cases with a strong prenatal suspicion of a cleft but without an International Classification of Diseases-10 code were registered as prenatally detected. Termination of pregnancy and intrauterine death were registered as true positives even if no autopsy could be performed. Liveborn cases with a prenatal diagnosis but without a postnatal validation were excluded. RESULTS: A total of 994 cases were included in the study, of which 933 were liveborn. The prevalence of orofacial cleft was 1.6 per 1000 live births. There were no differences in the baseline characteristics between detected and undetected cases. The DR for CL(P) was 71.7% (95% CI, 64.8-78.9%), with an increase from 60.0% in 2009 to 73.0% in 2018 (P = 0.018). The type-specific DRs for the entire period were 56.4% (95% CI, 45.0-67.6%) for unilateral CL; 76.6% (95% CI, 71.7-82.9%) for unilateral CLP; 70.5% (95% CI, 52.1-87.6%) for bilateral CL; 82.3% (95% CI, 70.6-93.6%) for bilateral CLP; 0% (0/6) for median CL; 75.0% (3/4) for median CLP; and 3.3% (95% CI, 0.6-5.7%) for CP. A total of 20.9% (208/994) of the cases had associated findings, of which 33.2% (69/208) were genetic aberrations. CONCLUSIONS: The DR for CL(P) has improved in Denmark over the last decade. The DR for CLP is high, with the highest DR for bilateral CLP. However, prenatal detection of CP remains a challenge. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.


Asunto(s)
Labio Leporino , Fisura del Paladar , Embarazo , Niño , Femenino , Humanos , Labio Leporino/diagnóstico por imagen , Labio Leporino/epidemiología , Fisura del Paladar/diagnóstico por imagen , Fisura del Paladar/epidemiología , Diagnóstico Prenatal , Mortinato , Dinamarca/epidemiología
2.
BMC Pregnancy Childbirth ; 24(1): 658, 2024 Oct 10.
Artículo en Inglés | MEDLINE | ID: mdl-39390395

RESUMEN

OBJECTIVE: To investigate the structural abnormalities, genetic results, and postnatal clinical outcomes of fetuses with bovine aortic arch (Bovine Aortic Arch, BAA) to provide a basis for prenatal counseling and management. METHODS: A retrospective analysis was conducted on 216 fetuses diagnosed with bovine aortic arch through prenatal ultrasound screening at the First Affiliated Hospital of Anhui Medical University and the No.901 Hospital of the Joint Service of the People's Liberation Army from January 2019 to February 2023. Their family history of genetic diseases, prenatal screening results, and postnatal follow-up data were collected. The fetuses were divided into an isolated BAA group (n = 192) and a non-isolated BAA group (n = 24). Chromosomal karyotyping and copy number variation (CNV) testing were conducted, and statistical analysis was performed using SPSS 22.0 software. RESULTS: Of the 216 fetuses with BAA, 192 were isolated BAA (88.89%), and 24 were non-isolated BAA (11.11%). Among the isolated BAA fetuses, only 1 case (0.52%) had chromosomal karyotype and pathogenic CNV abnormalities. Among the non-isolated BAA fetuses, 4 cases (16.67%) had chromosomal or CNV abnormalities, but the overall risk was low. The postnatal outcomes of isolated BAA fetuses were good (99.48%), while 79.17% of non-isolated BAA fetuses had good postnatal outcomes. CONCLUSION: Most BAA fetuses are isolated, with a very low incidence of chromosomal abnormalities and pathogenic CNVs, and have good postnatal outcomes. The clinical value of isolated BAA is limited, and invasive prenatal diagnosis is not recommended for low-risk populations. Prenatal screening should focus on the risk of concurrent severe structural anomalies and chromosomal abnormalities.


Asunto(s)
Aorta Torácica , Ultrasonografía Prenatal , Femenino , Embarazo , Humanos , Estudios Retrospectivos , Ultrasonografía Prenatal/estadística & datos numéricos , Aorta Torácica/diagnóstico por imagen , Aorta Torácica/anomalías , Aorta Torácica/embriología , Adulto , Cariotipificación , Variaciones en el Número de Copia de ADN , Aberraciones Cromosómicas/estadística & datos numéricos , Diagnóstico Prenatal/métodos , Recién Nacido , Resultado del Embarazo , Feto/anomalías
3.
J Obstet Gynaecol Res ; 49(11): 2680-2685, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37621145

RESUMEN

OBJECTIVE: To describe our individualized management protocol for women with an antenatal diagnosis of vasa previa (VP) and to report maternal and neonatal outcomes in patients managed according to our protocol. METHODS: A retrospective study of prospectively collected data of antenatally diagnosed VP managed at our hospital between 2014 and 2021. Obstetric and neonatal outcomes were reviewed and analyzed. RESULTS: Fourteen cases of antenatally diagnosed VP in 5150 total deliveries were analyzed (0.3%) Five cases (36%) of VP were diagnosed during the routine fetal morphological ultrasound screening, and nine cases (64%) were referred to our hospital due to perinatal complications. There were nine cases that required hospitalization (due to fetal growth restriction [FGR] [1], preterm labor [3], patients' request [5]). The other five were asymptomatic. Eight patients were delivered by scheduled cesarean section at around 36 weeks and only three neonates were admitted to NICU with transient tachypnea of newborn. However, six patients required CS before the scheduled dates because of other complications (preterm labor [3], abnormal cardiotocogram patterns [1], FGR [1] and twin pregnancy [1]). Four neonates born by CS before their scheduled dates were admitted to NICU. No cases required prolonged hospitalization and there were no serious neonatal complications. CONCLUSION: Individualized management may lead to favorable outcomes with VP. Outpatient management may be considered in patients without risk factors. However, maternal hospitalization and earlier scheduled CS should be considered in symptomatic patients or those at risk for preterm delivery.


Asunto(s)
Nacimiento Prematuro , Vasa Previa , Recién Nacido , Embarazo , Femenino , Humanos , Vasa Previa/diagnóstico por imagen , Vasa Previa/terapia , Estudios Retrospectivos , Cesárea , Diagnóstico Prenatal , Ultrasonografía Prenatal
4.
Arch Gynecol Obstet ; 2023 Nov 08.
Artículo en Inglés | MEDLINE | ID: mdl-37938359

RESUMEN

PURPOSE: This study aimed to investigate the performance, cost-effectiveness and additional findings of combined detailed ultrasound and biochemical screening for risks of major fetal trisomies in the first-trimester. METHODS: This is a retrospective analysis study, we estimated the risk of trisomies 21, 18 and 13 based on maternal age, fetal nuchal translucency thickness, nasal bone, ductus venosus pulsatility index velocity, tricuspid regurgitation, fetal heart rate, free beta-human chorionic gonadotropin, and pregnancy-associated plasma protein A in singleton pregnant women, and performed non-invasive prenatal testing for women with risks of trisomy 21 between 1:500 and 1:300. Invasive diagnostic testing was performed for women with positive or failed non-invasive prenatal testing result and in the high-risk group of this screening method. The direct costs were compared between this strategy and the non-invasive prenatal testing which alone used as first-line screening for all pregnant women. RESULTS: Among 25,155 singleton pregnant women who underwent screening, 24,361 were available for analysis, of these, 194 cases underwent non-invasive prenatal testing. Among the 24,361 women, 39, 19, and 7 had trisomies 21, 18 and 13, respectively. The use of this strategy could potentially detect approximately 94.87% of trisomy 21 cases, 100% of trisomy 18 cases, and 100% of trisomy 13 cases, with false-positive rates of 2.49%, 0.41%, and 0.49%, respectively. The overall detection rate and overall false-positive rates were 96.92% and 2.52%, respectively. The detection rate was 100% in the advanced age group and 94.12% in the general age group. Additionally, structural abnormalities were detected in 137 fetuses, and 44 fetuses had other chromosomal abnormalities. The total cost of this strategy was $3,730,843.30, and the cost per person tested was $153.15. The total cost of using non-invasive prenatal testing as the first-line strategy would be $6,813,387.04 and the cost per person tested was $279.68. CONCLUSIONS: Our strategy is an efficient and cost-effective approach for detecting major trisomies and identifying more fetuses with a potential abnormality. Therefore, this strategy is a valuable screening method and highly feasible in the clinical setting.

5.
Arch Gynecol Obstet ; 2023 Jul 21.
Artículo en Inglés | MEDLINE | ID: mdl-37477678

RESUMEN

PURPOSE: To investigate genetic etiology and pregnancy outcomes of fetal central nervous system (CNS) anomalies. METHODS: 217 fetuses with CNS anomalies were included in our cohort from January 2016 to December 2022. 124 cases received karyotyping and 73 cases simultaneously underwent copy number variant sequencing (CNV-seq). Dynamic ultrasound screening and pregnancy outcomes were followed up, including neonates' neurodevelopmental outcomes. RESULTS: (1) 20 types of CNS anomalies were revealed by ultrasound and the most common was ventriculomegaly. (2) 14 (11.3%) of 124 cases were found chromosomal abnormalities by karyotyping, and copy number variations (CNVs) were revealed in 13 (17.8%) of 73 cases by CNV-seq. Fetuses with non-isolated CNS anomalies had a higher detection rate (DR) of abnormal karyotypes and CNVs than those with isolated CNS anomalies (25.0% vs. 4.8%; 35.0% vs. 11.3%) (P < 0.05). And the DR of abnormal karyotypes was significantly higher in multiple CNS anomalies than in single CNS anomaly (16.7% vs. 2.8%, P < 0.05), while there were no significant differences in the DR of CNVs. (3) Through dynamic ultrasound, 12 cases were further found progression or additional malformations. (4) Pregnancy outcomes of 209 cases were obtained, including 136 (65.1%) live births, 3 (1.4%) intrauterine fetal deaths, and 70 (33.5%) terminated. Two neonatal deaths at 6 months and one infant with motor and intellectual disabilities were finally found after long-term follow-up. CONCLUSION: Genetic analysis combined with dynamic ultrasound screening and multidisciplinary consultation plays an important role in evaluating the prognosis of fetal CNS anomalies, especially for those with multiple CNS or extracranial abnormalities.

6.
Arch Gynecol Obstet ; 2023 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-38036918

RESUMEN

OBJECTIVES: The aim of this study was to investigate the rate of Mother-to-child-transmission (MTCT) in women living with HIV (WLWH) in a tertiary care institution. Furthermore, we aimed to assess prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection." METHODS: In this single-center study, retrospective data related to pregnancy and childbirth were collected from 420 WLWH. All data were evaluated descriptively. RESULTS: From January 2014 to December 2020, a total number of 420 pregnant WLWH delivered 428 newborns. 415 (98.8%) were receiving antiretroviral therapy (ART) and 88.8% had a viral load of < 50 cop/ml prior delivery. 46 (11%) of the newborns were born prematurely. Low birth weight < 2500 g occurred in 38 (9.1%) of the children. 219 (52.1%) caesarean sections (CS) were performed. The most frequent indication for an elective CS was a previous CS (70.2%). 8 severe malformations were detected using first and second trimester ultrasound. In one child, MTCT was detected postpartum, resulting in an HIV transmission rate of 0.2% in the presented cohort. CONCLUSIONS: The low rate of vertical HIV-transmission in our cohort of 0.2% is the result of interdisciplinary prenatal care and high experience of healthcare providers in treatment of WLWH. Despite high ART coverage and adherence, good maternal immune system and very low vertical HIV transmission rate, maternal HIV infection remains a challenge in obstetric care. First and second ultrasound screening should be a part of prenatal care for HIV-infected women and should also be offered to HIV-negative women. A reduction of the rate of unnecessary elective caesarean deliveries in WLWH is necessary to reduce complications in subsequent pregnancies.

7.
J Med Ultrasound ; 31(4): 331-333, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38264596

RESUMEN

A pregnant woman was revealed to have an unusual position of the fetal hand by a routine 12-week ultrasound. Bilateral adducted thumbs and a male phenotype were confirmed by another ultrasound at 14 weeks' gestation. A structural survey at 18 weeks revealed fetal hydrocephalus with severe bilateral ventriculomegaly. The pregnancy was terminated, and postnatal examination with trio exome sequencing detected a hemizygous deletion (1,511 bp in size) variant of L1CAM gene in the fetus, inherited from the mother. The fetus was diagnosed as L1 syndrome (X-linked hydrocephalus). A family study found that this was a familial mutant allele. This study demonstrates that fetal hand abnormalities can be identified in the first trimester. Adducted thumbs might indicate the maldevelopment of the fetal brain, and therefore, examination of fetal hands and fingers should be integrated into fetal anomaly scans.

8.
J Med Ultrasound ; 31(3): 242-244, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38025018

RESUMEN

A pregnant woman was revealed to have fetal univentricular heart and megacystis by a routine first-trimester ultrasound. Chorionic villus sampling with the use of karyotyping and microarray found no causative etiologies. A further investigation with whole-exome sequencing (WES) demonstrated a FOXF1 variant. Autopsy confirmed the prenatal findings, and a histological study of the lungs showed the characteristic features of alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). This study indicates that although ultrasound itself has no ability of the identification of pulmonary histological malformations associated with ACDMPV, the early markers of univentricular heart and megacystis might alert clinicians to consider this genetic disorder which is facilitated considerably by the increasingly used WES in prenatal diagnosis.

9.
J Surg Res ; 279: 193-199, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35779449

RESUMEN

INTRODUCTION: Infants with esophageal atresia and/or tracheoesophageal fistula (EA/TEF) undergo screening for tethered cord syndrome (TCS) via ultrasound and magnetic resonance imaging. Existing literature lacks data to guide optimal timing of screening and magnetic resonance imaging (MRI) is often delayed until 3-6 mo of age, when it is frequently forgotten. Detethering surgery has a high rate of success in patients with TCS and is often performed prophylactically due to potential irreversible deficits. This study aims to improve screening procedure for infants with EA/TEF. METHODS: A retrospective chart review was done of all EA/TEF patients treated over 6 y (n = 79). The study examined how often each imaging modality was performed and identified a TCS lesion, as well as age of screening/surgical intervention. RESULTS: Screening for TCS was done with MRI 58% of the time and US 15% of the time. However, 38% of patients did not undergo any screening. Out of the patients with TCS on MRI (n = 19, 41.3%), 73.7% had neurosurgery. Of patients who underwent ultrasound (US) (n = 12), nine patients also had MRI later: two reported TCS lesions and subsequently had neurosurgery. Surgical infection rates and complications were 0/14. CONCLUSIONS: MRI demonstrated a higher rate of detecting TCS lesions than US, and patients with TCS frequently had detethering. Patients with ≥3 VACTERL or vertebral anomalies had a higher incidence of TCS on MRI. Patients with vertebral anomalies reported false negative ultrasounds in two cases, suggesting the potential superiority of MRI screening in this subgroup. A third of children did not undergo any imaging and this will require a process improvement.


Asunto(s)
Atresia Esofágica , Defectos del Tubo Neural , Fístula Traqueoesofágica , Anomalías Múltiples , Niño , Atresia Esofágica/complicaciones , Atresia Esofágica/diagnóstico por imagen , Atresia Esofágica/cirugía , Hernia Diafragmática , Humanos , Lactante , Imagen por Resonancia Magnética , Defectos del Tubo Neural/diagnóstico por imagen , Defectos del Tubo Neural/epidemiología , Estudios Retrospectivos , Fístula Traqueoesofágica/diagnóstico por imagen , Fístula Traqueoesofágica/epidemiología
10.
J Obstet Gynaecol Res ; 48(5): 1091-1098, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35174583

RESUMEN

OBJECTIVE: Reliable aneuploidy risk estimation in first trimester is prominently interconnected with accurate assessment of maternal serum biomarkers. Some maternal factors like insulin-dependent diabetes, weight, and rhesus status are known to alter levels of these biomarkers. Adjustment of biomarker values for specific factor is crucial to avoid excessive invasive procedures or missed diagnoses. We aimed to investigate the effects of noncavity distorting intramural uterine fibroids on first trimester aneuploidy screening test maternal serum biomarkers. METHODS: Pregnant women who underwent first trimester aneuploidy screening test in a single tertiary center between 2011 and 2020 were retrospectively assessed. One hundred ninety-eight women were found to have at least one noncavity distorting intramural uterine leiomyoma (Figo type 3-6) of at least 2 cm diameter and remaining women were assigned as controls. First trimester aneuploidy screening test parameters were compared. RESULTS: Pregnancy associated plasma protein-A (PAPP-A) MoMs were found significantly lower in leiomyoma group in comparison to control group (1.19 ± 0.60 MoM vs. 1.40 ± 0.73 MoM, p = 0.002). PAPP-A MoMs in women with leiomyomas larger than 5.5 cm were significantly lower in comparison to both control group and women with ≤5.5 cm leiomyomas (0.82 ± 0.376 vs. 1.40 ± 0.73, p < 0.001; 0.82 ± 0.376 vs. 1.33 ± 0.61 p < 0.001, respectively). PAPP-A MoM and size of leiomyoma were found inversely correlated when fibroid size exceeds 5.5 cm (r = -0.467, p < 0.001). CONCLUSION: Noncavity distorting intramural uterine leiomyomas >5.5 cm are associated with low first trimester PAPP-A MoMs (<0.5). PAPP-A concentrations are inversely correlated with fibroid size in women with >5.5 cm intramural uterine leiomyomas. Fibroids ≤5.5 cm are not associated with alterations in first trimester aneuploidy screening test parameters.


Asunto(s)
Leiomioma , Proteína Plasmática A Asociada al Embarazo/análisis , Neoplasias Uterinas , Aneuploidia , Biomarcadores , Femenino , Humanos , Leiomioma/complicaciones , Leiomioma/diagnóstico , Embarazo , Primer Trimestre del Embarazo , Estudios Retrospectivos , Proteína Estafilocócica A , Neoplasias Uterinas/complicaciones , Neoplasias Uterinas/diagnóstico
11.
Acta Med Okayama ; 76(5): 577-584, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36352805

RESUMEN

The prevalence of preoperative deep vein thrombosis (DVT) has been reported to be relatively high in patients undergoing total hip arthroplasty. We investigated the prevalence of DVT, the association between hip function and preoperative DVT, and the effect of a history of surgery in patients who underwent primary total hip arthroplasty. We retrospectively analyzed the cases of the patients who underwent primary total hip arthroplasty between April 2013 and February 2020 at our institution. We evaluated the prevalence of preoperative DVT based on the results of the patients' ultrasound screening. We performed univariate and multivariate analyses to investigate the association between the incidence of DVT and patient factors including age, sex, hip function, medical histories, and American Society of Anesthesiologists Physical Status classification. We analyzed 451 patients (494 hips). The prevalence of DVT was 14.2% (64 patients). The multivariate analysis demonstrated that increased age was an independent significant risk factor for DVT. The prevalence of preoperative DVT was relatively high among patients who underwent primary total hip arthroplasty. Preoperative DVT tended to be more prevalent in older patients. Hip function was not associated with the incidence of DVT.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Trombosis de la Vena , Humanos , Anciano , Artroplastia de Reemplazo de Cadera/efectos adversos , Incidencia , Estudios Retrospectivos , Trombosis de la Vena/epidemiología , Trombosis de la Vena/etiología , Trombosis de la Vena/diagnóstico , Factores de Riesgo , Complicaciones Posoperatorias/etiología
12.
Arch Gynecol Obstet ; 305(5): 1159-1168, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-34524504

RESUMEN

BACKGROUND: Introduction: There is clear evidence that fetuses with intrauterine growth restriction (IUGR) do not receive the minimum evidence-based care during their antenatal management. OBJECTIVE: Considering that optimal management of IUGR may reduce neonatal morbi-mortality in IUGR, the objective of the present study was to evaluate the impact of antenatal management of IUGR according to the recommendations of the French college of gynecologists and obstetricians (CNGOF) on the neonatal prognosis of IUGR fetuses. STUDY DESIGN: From a historical cohort of 31,052 children, born at the Femme Mère Enfant hospital (Lyon, France) between January 1, 2011 and December 31, 2017, we selected the population of IUGR fetuses. The minimum evidence-based care (MEC) in the antenatal management of fetuses with IUGR was defined according to the CNGOF recommendations and neonatal prognosis of early and late IUGR fetuses were assessed based on the whether or not they received MEC. The neonatal prognosis was defined according to a composite criterion that included neonatal morbidity and mortality. RESULTS: A total of 1020 fetuses with IUGR were studied. The application of MEC showed an improvement in the neonatal prognosis of early-onset IUGR (p = 0.003), and an improvement in the neonatal prognosis of IUGR born before 32 weeks (p = 0.030). Multivariate analysis confirmed the results showing an increase in neonatal morbi-mortality in early-onset IUGR in the absence of MEC with OR 1.79 (95% CI 1.01-3.19). CONCLUSION: Diagnosed IUGR with MEC had a better neonatal prognosis when born before 32 weeks. Regardless of the birth term, MEC improved the neonatal prognosis of fetuses with early IUGR. Improvement in the rate of MEC during antenatal management has a significant impact on neonatal prognosis.


Asunto(s)
Retardo del Crecimiento Fetal , Ginecología , Niño , Medicina Basada en la Evidencia , Femenino , Retardo del Crecimiento Fetal/terapia , Feto , Humanos , Recién Nacido , Embarazo , Pronóstico , Ultrasonografía Prenatal/métodos
13.
Fetal Diagn Ther ; 49(1-2): 52-59, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35016178

RESUMEN

OBJECTIVES: Ultrasound detection of a placenta accreta spectrum (PAS) among women at risk is a key goal to reduce obstetric morbidity, but there is scarce information on its performance in real clinical settings. We report the effectiveness of a standardized ultrasound protocol to detect PAS in women with placenta previa (PP) in a secondary-level hospital. METHODS: A retrospective analysis, including a cohort of 126 women with persistent PP among 27,975 pregnancies between 2008 and 2020, was performed. All 126 women underwent standardized transabdominal and transvaginal ultrasound scan that assessed 5 criteria: (1) loss of hypoechoic retroplacental zone and/or myometrial thinning <1 mm; (2) lacunar images with a flow of >15 cm/s; (3) thick and bulging placenta; (4) thinning or interruption of the uterine-bladder serous interface; and (5) placental or uterovesical hypervascularity. The presence of at least one criterion was considered a high risk for PAS. Diagnosis of PAS was confirmed during the caesarean section and by histopathological analysis. RESULTS: Among 126 women with PP, 11 (8.7%) cases of PAS were diagnosed, of which 10 were detected prenatally by ultrasound scan. This resulted in a sensitivity of 90.9%, a specificity of 98.3%, a positive predictive value of 83.3%, and a negative predictive value of 99.1%. Histopathological assessment showed 6 placenta increta (54.5%), 4 percreta (36.4%), and 1 accreta (9.1%). All 10 cases of invasive placenta presented more than 3 ultrasound criteria. CONCLUSIONS: Standardized ultrasound screening protocol in women at risk due to PP in the third trimester was highly effective in detecting PAS in a secondary-level hospital setting.


Asunto(s)
Placenta Accreta , Placenta Previa , Cesárea , Femenino , Humanos , Placenta/patología , Placenta Accreta/diagnóstico por imagen , Placenta Previa/diagnóstico por imagen , Embarazo , Estudios Retrospectivos , Atención Secundaria de Salud , Ultrasonografía Prenatal/métodos
14.
Can Assoc Radiol J ; 73(1): 101-106, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34134531

RESUMEN

PURPOSE: We evaluated the contribution to cancer detection of supplemental breast ultrasound screening in women with dense breasts based on a single center experience by comparing our results with similar programs elsewhere. METHODS: We performed a retrospective review of handheld sonographer-performed screening ultrasound exams at our academic breast imaging center, from January 1st to December 31st, 2019. Breast density, breast cancer risk factors, BI-RADS assessment, and lesion pathology were reviewed and tallied, followed by derivation of the biopsy rate, breast cancer detection rate, PPV3 and average tumor size. These values were compared to published results of breast screening programs elsewhere. RESULTS: 695 screening breast ultrasounds for women with dense breasts and negative mammograms were performed in 2019. The biopsy rate was 1.3%, breast cancer detection rate was 7 in 1000, PPV3 was 42%, and the average tumor size was 9.0 ± 1.4 mm. CONCLUSIONS: The first-year data of the breast screening ultrasound program at our practice are promising, demonstrating comparable cancer detection rate, higher PPV3, and similar biopsy rate in those with dense breasts compared with similar programs elsewhere. Longitudinal analysis and larger sample size are required for validation. Comparison of incidence and prevalence screening data is also warranted to elucidate the true value of this program.


Asunto(s)
Densidad de la Mama , Neoplasias de la Mama/diagnóstico por imagen , Detección Precoz del Cáncer/métodos , Ultrasonografía Mamaria/métodos , Anciano , Mama/diagnóstico por imagen , Canadá , Femenino , Humanos , Persona de Mediana Edad , Estudios Retrospectivos
15.
Am J Med Genet A ; 185(5): 1494-1497, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33522073

RESUMEN

First trimester ultrasound screening is an essential fetal examination performed generally at 11-13 weeks of gestation (WG). However, it does not allow for an accurate description of all fetal organs, partly due to their development in progress. Meanwhile, increased nuchal translucency (INT) is a widely used marker known to be associated with chromosomal deleterious rearrangements. We report on a 14 WG fetus with an association of INT and univentricular congenital heart malformation (CHM) leading to chorionic villous sampling (CVS). Cytogenetic investigations performed using array-Comparative Genomic Hybridization (CGH) and fluorescence in situ hybridization (FISH) demonstrated a 1.17 Mb deletion in 16q24.1 encompassing FOXF1 arisen de novo on maternal inherited chromosome. Fetopathological study confirmed CHM with hypoplastic left heart syndrome (HLHS) associating aortic atresia, mitral stenosis, and left ventricular hypoplasia and revealed in addition specific lung lesions corresponding to alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). This is so far the first case of first trimester prenatal diagnosis of ACDMPV due to the deletion of FOXF1 gene. An interpretation of the complex genomic data generated by ultrasound markers is facilitated considerably by the genotype-phenotype correlations on fetopathological examination.


Asunto(s)
Deleción Cromosómica , Factores de Transcripción Forkhead/genética , Predisposición Genética a la Enfermedad , Síndrome de Circulación Fetal Persistente/diagnóstico , Alveolos Pulmonares/anomalías , Cromosomas Humanos Par 16/genética , Hibridación Genómica Comparativa , Diagnóstico Precoz , Femenino , Estudios de Asociación Genética , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Síndrome de Circulación Fetal Persistente/genética , Síndrome de Circulación Fetal Persistente/patología , Embarazo , Diagnóstico Prenatal , Alveolos Pulmonares/patología , Venas Pulmonares/anomalías , Venas Pulmonares/diagnóstico por imagen , Venas Pulmonares/crecimiento & desarrollo , Venas Pulmonares/patología , Eliminación de Secuencia
16.
J Ultrasound Med ; 40(3): 483-489, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32770573

RESUMEN

OBJECTIVES: Our aim was to evaluate the conditions and to weigh the potential impact of an obstetrical ultrasound screening intervention on pregnant patients in an underserved area of Lebanon with the presence of refugees. METHODS: We performed a cross-sectional study in a rural region in North Lebanon. Monthly second-trimester obstetrical ultrasound scans were offered to patients. A thorough analysis of the population's characteristics was done, the anomalies discovered were documented and follow up recommendations were offered. RESULTS: 268 screening ultrasounds were performed over a one-year period. The patients' mean age was 27.5 ± 8.5 years with a 35% consanguinity rate. A positive personal history of abnormalities was recognized in 34% of cases, and a positive family history in 21% of them. The average gestational age was of 23.3 ± 1.4 weeks of gestation. We found a rate of 8.6% inaccurate dating, 20% growth abnormalities, and 12% morphological abnormalities requiring follow-up. These latter included defects affecting multiple organ systems among which renal, neurological, and cardiac structures were the most frequently affected (2.5%, 2%, and 1.6% respectively). Overall, 35.8% of the screened cases required a follow-up for 1 or more abnormal findings. CONCLUSIONS: The findings confirmed the necessity to introduce a prenatal ultrasound screening program in rural areas of Lebanon where refugees are settled. The lack of adequate ultrasound screening in these regions presents major threats that can hinder any pregnancy. Our simple intervention tackles the burden of diagnosis of these risks in up to 35.8% of pregnancies and thus can help improve outcomes.


Asunto(s)
Diagnóstico Prenatal , Ultrasonografía Prenatal , Adulto , Estudios Transversales , Femenino , Edad Gestacional , Humanos , Lactante , Líbano/epidemiología , Embarazo , Adulto Joven
17.
Pediatr Surg Int ; 37(6): 679-694, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33462655

RESUMEN

In recent years, there has been an increased focus on developing and validating venous thromboprophylaxis guidelines in the pediatric trauma population. We review the current literature regarding the incidence of and risk factors for venous thromboembolism (VTE) and the use of prophylaxis in the pediatric trauma population. Risk factors such as age, injury severity, central venous catheters, mental status, injury type, surgery, and comorbidities can lead to a higher incidence of VTE. Risk stratification tools have been developed to determine whether mechanical and/or pharmacologic prophylaxis should be implemented depending on the degree of VTE risk. When VTE risk is high, pharmacologic prophylaxis, such as with low molecular weight heparin, is often initiated. However, the timing and duration of VTE prophylaxis is dependent on patient factors including ambulatory status and contraindications such as bleeding. In addition, the utility of screening ultrasound for VTE surveillance has been evaluated and though they are not widely recommended, no formal guidelines exist. While more research has been done in recent years to assess the most appropriate type, timing, and duration of VTE prophylaxis, further studies are warranted to create optimal guidelines for decreasing the risk of VTE after pediatric trauma.


Asunto(s)
Anticoagulantes/uso terapéutico , Tromboembolia Venosa/prevención & control , Heridas y Lesiones/complicaciones , Niño , Salud Global , Humanos , Incidencia , Factores de Riesgo , Tromboembolia Venosa/epidemiología , Tromboembolia Venosa/etiología
18.
Zhonghua Zhong Liu Za Zhi ; 43(4): 497-503, 2021 Apr 23.
Artículo en Zh | MEDLINE | ID: mdl-33902214

RESUMEN

Objective: To evaluate the effectiveness and quality of ultrasound-based (BUS) process optimization in breast cancer screening. Methods: The program collected the first to fourth quarterly breast cancer screening statistic data and case report data from 30 provinces, autonomous regions and municipalities in 2015 by the online report system of national key service program of women and children's public health. The call rate, mammography (MG) subsequent screen rate, biopsy rate, detection rate, early diagnosis rate, carcinoma in situ rate, missing detection rate, false positive rate and positive predictive value (PPV) of breast cancer were calculated. Results: A total of 1 501 753 rural women attended the BUS process optimization screening. The nationwide recall rate was 3.01%(45 156/1 501 753), and in the eastern and central area were 3.41%(17 173/503 130) and 3.56%(14 499/407 739), respectively, higher than 2.28% (13 484/590 884) of western area (P<0.05). The nationwide MG subsequent screen rate was 2.78%(41 694/1 501 753), and in the eastern and central area were 3.19%(16 036/503 130) and 3.29% (13 421/407 739), respectively, higher than 2.07%(12 237/590 884) of western area (P<0.05). The nationwide biopsy rate was 0.23%(3 462/1 501 753), and in the central area were 0.26%(1 078/407 739), respectively, higher than 0.21%(1 247/590 884) of western area and 0.23% (1 137/503 130) of eastern area (P<0.05). The nationwide biopsy PPV was 37.00%(1 281/3 462). The biopsy PPV of eastern area was (34.30%, 390/1 137), lower than 39.33% (424/1 078) of central area (P<0.05). A total of 1 281 cases of breast cancer were detected, the detection rate was 0.85‰(1 281/1 501 753), and the detection rates of central area was 1.04‰ (424/407 739), higher than 0.79‰(467/590 884) of western area and 0.78‰(390/503 130) of eastern area (P<0.05). The BUS initiate screening positive rate from detected breast cancer cases was 96.96%(1 242/1 281), the MG subsequent screening positive rate was 2.42%(31/1 281). The nationwide early diagnosis rate was 85.25%(1 092/1 281), and in the eastern and central areas were 87.95%(343/390) and 88.21%(374/424), higher than 80.30%(375/467) of western area (P<0.05). The screening rate of on or above stage Ⅱ breast cancer in eastern area was 55.64%(217/390), lower than 64.62%(374/424) of central area and 62.31%(291/467) of western area. The missing detection rate was 0.62%(8/1 281) and false positive rate was 1.20%(17 528/1 464 149). Conclusions: The BUS process optimization of breast cancer screening scheme is reasonable and applicable to China rural women. The effectiveness and quality of eastern area are superior to those of central and western area.


Asunto(s)
Neoplasias de la Mama , Detección Precoz del Cáncer , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/epidemiología , Niño , China/epidemiología , Femenino , Humanos , Mamografía , Tamizaje Masivo
19.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 43(4): 513-520, 2021 Aug.
Artículo en Zh | MEDLINE | ID: mdl-34494520

RESUMEN

Objective To understand the current situation and predict the trends in number and composition of prenatal ultrasound screening staff in Beijing. Methods We analyzed the region,age,professional title and other characteristics of prenatal ultrasound screening personnel in Beijing during 2007-2015.We then built an ARIMA model basing on the current situation to predict the number and composition of the staff in 2016-2020. Results The number of prenatal ultrasound screening staff showed an upward trend in 2007-2020 and was predicted to reach 1269 in 2020.During this period,the educational achievement and professional title of the staff showed a downward trend,and the working years became shorter,mainly below 5 years.The proportion of resident doctors remained at 26.6%,and that of the staff receiving further education would reach 43.2% by the end of 2020. Conclusion The prediction under ARIMA model suggests that efforts should be made to strengthen the training of young doctors and provide them opportunities for further study.


Asunto(s)
Modelos Estadísticos , Diagnóstico Prenatal , Beijing , Femenino , Humanos , Embarazo , Ultrasonografía , Ultrasonografía Prenatal
20.
J Obstet Gynaecol Res ; 46(10): 1977-1981, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32761738

RESUMEN

AIM: To study the outcome of pregnancies with severely increased nuchal translucency (NT) thickness at the 11-13-week scan. METHODS: This study included 162 singleton pregnancies whose fetuses had increased NT thickness ≥ 5.5 mm between September 2013 and August 2018. The cases were divided into two groups: NT ≥ 6.5 mm (n = 112) (group A); and 6.5 mm > NT ≥ 5.5 mm (n = 50) (group B). Fetal (amniotic fluid) or placental (chorionic villous) chromosome analyses were conducted. Subsequent ultrasound findings, pregnancy outcome and structural defects in the neonates were recorded and analyzed. RESULTS: Abnormal karyotype was found in 71% (60/84) (group A) and 57% (21/37) (group B) of the cases respectively. In group A, 15 cases out of 24 with normal karyotype were born. Among these 15 cases, one case died soon after birth and 5 cases had associated abnormalities. In group B, 13 cases out of 18 with normal karyotype or negative noninvasive prenatal testing results and 1 case out of 2 cases with 47,XXY were born. All of them survived with no major anomaly. CONCLUSION: Incidence of chromosomal aberrations was high in the cases with severely increased NT thickness. But favorable outcome could be expected if the fetus had no chromosomal abnormality and no abnormal findings were found in second trimester ultrasound scan especially in a fetus with increased NT < 6.5 mm.


Asunto(s)
Medida de Translucencia Nucal , Ultrasonografía Prenatal , Aberraciones Cromosómicas , Femenino , Feto/diagnóstico por imagen , Humanos , Recién Nacido , Placenta , Embarazo , Primer Trimestre del Embarazo
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