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1.
J Child Neurol ; 39(13-14): 481-486, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-39360439

RESUMO

Objective: The study aimed to investigate the clinical outcomes of fetuses diagnosed with isolated mega cisterna magna in utero. Methods: A multicenter retrospective cohort study was conducted across 18 university hospitals from 2010 to 2019. Cases diagnosed with isolated mega cisterna magna, defined as a cisterna magna >10 mm with a normal cerebellar vermis and no cystic dilation of the fourth ventricle, were included. Cases with other central nervous system (CNS) anomalies, extra-central nervous system anomalies, chromosomal abnormalities, or congenital infections were excluded. Maternal demographics, prenatal findings, delivery outcomes, and postnatal outcomes were analyzed. Results: The mean gestational age at initial diagnosis was 28.6 ± 3.9 weeks, and the mean anteroposterior diameter of the cisterna magna was 12.5 ± 3.2 mm. Of the 71 cases initially assessed, 48 (67.6%) showed self-regression in utero. Postnatally, 13 cases (18.3%) had persistent isolated mega cisterna magna, whereas 10 cases (14.1%) were diagnosed with other central nervous system anomalies. Among the persistent isolated mega cisterna magna cases, one child exhibited delayed neurodevelopment. There was a higher incidence of isolated mega cisterna magna in male fetuses, which exhibited a significantly larger mean cisterna magna diameter compared with female fetuses (P = .045). Conclusion: Male fetuses exhibited a higher incidence of isolated mega cisterna magna compared with female fetuses and had larger anteroposterior diameters of the cisterna magna. The study demonstrated favorable neurodevelopmental outcomes associated with isolated mega cisterna magna, with self-regression observed in two-thirds of the cases. However, consecutive prenatal and postnatal evaluations for additional central nervous system or extra-central nervous system malformations need to be performed, considering the differences between prenatal and postnatal diagnoses.


Assuntos
Cisterna Magna , Humanos , Cisterna Magna/diagnóstico por imagem , Cisterna Magna/anormalidades , Feminino , Estudos Retrospectivos , Gravidez , Masculino , Diagnóstico Pré-Natal/métodos , Adulto , Ultrassonografia Pré-Natal/métodos , Recém-Nascido , Estudos de Coortes , Idade Gestacional
3.
World J Clin Oncol ; 15(9): 1245-1250, 2024 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-39351467

RESUMO

BACKGROUND: Facial teratoma is a rare benign tumor that accounts for about 1.6% of all teratomas and can be diagnosed by prenatal ultrasound (US). The purpose of this report was to describe our experience with the diagnosis of fetal facial teratoma by prenatal US at second trimester to provide a reference for clinical diagnosis of fetal maxillofacial teratoma. CASE SUMMARY: We present two cases of patients with abnormal fetal facial findings on US at second trimester of pregnancy in our department. Case 1 was a 31-year-old G3 P1 + 1 female, with US revealing a heterogeneous echogenicity of 32 mm × 20 mm × 31 mm on the fetal face, most of it located outside the oral cavity and filling the root of the oral cavity. Case 2 was a 29-year-old G1P0 female, with fetal head and neck US revealing a cystic-solid echo mass measuring 42 mm × 33 mm × 44 mm, the upper edge of the lesion reaching the palate and filling the oral cavity. The contours of the lesions were visualized using three-dimensional (3D) US imaging. Both patients decided to give up treatment. Biopsies of the lesions were performed after induction of labor, and diagnosed as maxillofacial teratoma. CONCLUSION: Fetal maxillofacial teratomas can be diagnosed by US in early pregnancy, allowing parents to expedite treatment decisions.

4.
J Pharm Bioallied Sci ; 16(Suppl 3): S2848-S2850, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-39346197

RESUMO

Background: Antenatal hydronephrosis (ANH) is a common prenatal finding that requires careful evaluation to determine appropriate management strategies. The variability in outcomes underscores the need for refined diagnostic and monitoring protocols to differentiate between cases necessitating intervention and those likely to resolve spontaneously. Materials and Methods: A prospective clinical study was conducted involving 150 pregnant women diagnosed with ANH between gestational weeks 18 to 24. Prenatal ultrasounds were performed at regular intervals to monitor renal pelvic dilatation. Postnatal evaluations included renal ultrasound, voiding cystourethrography, and nuclear renal scans to assess renal function and identify associated anomalies. Management decisions were based on standardized criteria including degree of hydronephrosis, presence of associated anomalies, and renal function. Results: Of the 150 cases, 80 (53.3%) resolved spontaneously during the prenatal period, while 70 (46.7%) required postnatal intervention. Among the intervention group, 45 cases (64.3%) required surgical correction for persistent hydronephrosis or associated anomalies, while the remaining 25 cases (35.7%) were managed conservatively with close monitoring. Arbitrarily, the mean anteroposterior renal pelvic diameter (APRPD) in the resolved group was 5.2 mm, compared to 10.6 mm in the intervention group. The median postnatal follow-up duration was 24 months. Conclusion: This study highlights the importance of systematic evaluation and monitoring in managing ANH. While a significant proportion of cases resolve spontaneously, a careful assessment of associated anomalies and renal function is crucial in identifying cases requiring intervention. The arbitrary APRPD values presented underscore the potential for establishing diagnostic thresholds to guide clinical decision-making. Refinement of treatment protocols based on such parameters can improve outcomes and reduce unnecessary interventions in infants with ANH.

5.
Quant Imaging Med Surg ; 14(9): 6386-6396, 2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-39281137

RESUMO

Background: Congenital duodenal obstruction (CDO) is commonly detected antenatally through the presence of the "double bubble" sign on prenatal ultrasound, denoting dilatation of the stomach and duodenum. Subsequent postnatal ultrasonography plays a pivotal role in determining the causes of obstruction, thereby informing surgical strategies and neonatal management. The aim of this study was to investigate the diagnostic accuracy of postnatal ultrasonography in comparison to that of prenatal ultrasound and surgical findings in a cohort of 43 patients with fetal double bubble sign. Methods: A total of 43 patients, comprising 24 males and 19 females, who exhibited double bubble sign on prenatal ultrasound were subjected to postnatal ultrasound assessment at a tertiary care facility during the 2018-2023 period. The accuracy of both pre-and postnatal ultrasonography in the identification and diagnosis of CDO, as well as its underlying causes, was compared to that of the established gold standard of surgical findings. Results: The accuracy rates for prenatal and postnatal ultrasonic diagnosis of CDO were 97.7% (42/43) and 100% (42/42), respectively. In terms of etiological diagnosis, prenatal and postnatal ultrasound correctly identified the causes of obstruction in 45.2% (19/42) and 81.0% (34/42) of cases, respectively, as confirmed by surgical intervention. Conclusions: The presence of the prenatal double bubble sign serves as a highly reliable indicator for CDO. Additionally, postnatal ultrasonography proved to be a valuable tool in refining the diagnosis and determining the underlying causes of obstruction in neonates.

6.
Scand J Public Health ; : 14034948241274596, 2024 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-39279205

RESUMO

BACKGROUND: Prenatal ultrasound examinations are important to detect placental dysfunction. Several ultrasound-detected abnormalities can be managed during pregnancy or childbirth, thus improve health outcomes. Maternal birth country is known to influence the risk of placental dysfunction, but little is known about the possible mechanisms of this relation. AIMS: (a) To estimate the proportion of non-registered prenatal ultrasound examinations; (b) to examine associations between non-registered ultrasound examinations and adverse perinatal outcomes, by migrant-related factors, in women giving birth in Norway. METHODS: Individually linked data from the Medical Birth Registry of Norway and Statistics Norway, 1999-2016, comprising 999,760 singleton pregnancies to immigrants (n=196,220) and non-immigrants (n=803,540). Crude and adjusted odds ratios (aORs) with 95% confidence intervals (CIs) were estimated using logistic regression with robust standard error estimations, adjusted for year of childbirth, maternal age, parity, maternal smoking, educational level and Norwegian health region at birth. RESULTS: Compared with non-immigrants, immigrant women had a higher proportion of non-registered ultrasound examinations (2.3% vs. 4.3%; aOR 2.0 (95% CI 1.9, 2.0)). Compared with women with ultrasound examination, the aOR for perinatal mortality for women with non-registered ultrasound was 2.27 (95% CI 1.85, 2.79) for immigrants and 3.61 (3.21, 4.07) for non-immigrants. Non-registered ultrasound examination was also associated with placental abruption (aOR 1.32 (1.08, 1.63)) for non-immigrant women, but it was not associated with preeclampsia. Compared with non-immigrants, immigrant women have a higher proportion of non-registered data on prenatal ultrasound examinations. Both immigrants and non-immigrants with non-registered ultrasound examinations have an increased aOR of perinatal mortality. Non-immigrant women also had an increased aOR for placental abruption.

7.
J Perinat Med ; 52(8): 886-895, 2024 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-39091206

RESUMO

OBJECTIVES: The aim of this study was to describe the prenatal ultrasound findings of fetuses with skeletal dysplasia and to evaluate the genetic variations by molecular genetic analysis. METHODS: Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal skeletal dysplasia, an ultrasound database and prenatal genetic counseling records were first searched. Terminated cases diagnosed with skeletal dysplasia by pathologic and radiologic findings and cases with skeletal dysplasia proven by postnatal clinical findings were included in the study. RESULTS: Between 2018 and 2023, a total of 64 cases were diagnosed as skeletal dysplasia based on radiologic findings, pathologic findings, and clinical features. The median week of the first ultrasound performed on patients is 19 0/7 weeks, while the median week of the ultrasound in which skeletal dysplasia is suspected is 21 3/7 weeks. Although micromelia was evaluated as a common feature in all cases, the most common concomitant anomaly was thoracic hypoplasia. Exome sequencing analysis was achieved in 31 (48 %) of cases. In 31 cases, in total of 35 pathogenic single gene mutations and 5 VUS (variants of uncertain significance) variants composing of 23 autosomal dominant, 10 autosomal recessive and 2 X linked recessive mutations were determined. CONCLUSIONS: Prenatal ultrasound findings can lead us to specific diagnoses, and with the appropriate molecular analysis method, a definitive diagnosis can be made without wasting time and money.


Assuntos
Doenças do Desenvolvimento Ósseo , Ultrassonografia Pré-Natal , Humanos , Feminino , Gravidez , Estudos Retrospectivos , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Adulto , Sequenciamento do Exoma , Mutação , Masculino
8.
Diseases ; 12(8)2024 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-39195187

RESUMO

BACKGROUND: developmental dysplasia of the hip (DDH) is a condition characterized by abnormal hip development in infancy. Early diagnosis allows for effective treatment, while late presentation often necessitates complex surgical interventions. Current recommendations advise screening between the 6th and 8th week postnatal using an ultrasound, typically employing the Graf method. However, there is no universal consensus on whether ultrasound screening significantly increases treatment likelihood compared to clinical examination-guided ultrasound. This study aims to explore the feasibility of prenatal ultrasound for the early identification of DDH risk. METHODS: This prospective observational study involved 100 pregnant women undergoing fetal hip ultrasounds during the second and third trimesters. Using the modified Graf method, alpha and beta angles were calculated on the fetus. Postnatally, alpha and beta angles were compared with the prenatal values. RESULTS: Prenatal ultrasound at the 24th week showed inconclusive results because of the difficulty in identification of Graf landmarks, while ultrasound at the 34th week proved to be a reliable and safe method for the quantitative determination of alpha and beta angles. Significant correlations were found between prenatal and postnatal alpha and beta angles. Moreover, significant differences in prenatal alpha and beta values were observed in patients developing mature/immature hips postnatally. CONCLUSIONS: Prenatal diagnostics show promise for predicting infant hip development. Further research is warranted to validate correlation strength and clinical applicability.

11.
Quant Imaging Med Surg ; 14(5): 3643-3654, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38720845

RESUMO

Background: A prenatal fetal mediastinal cyst is a benign disease. However, if a cyst enlargement grows, it may compress the adjacent organs and affect the fetal cardiopulmonary function. This study aimed to compare and analyze the prenatal ultrasound characteristics of different mediastinal cysts, and to evaluate the pregnancy outcome of the fetus and the factors affecting the prognostic of the fetus. To compare and analyze the prenatal ultrasound characteristics of different types of mediastinal cysts, and to evaluate the fetal pregnancy outcome and the influencing factors of fetal prognosis. Methods: A retrospective analysis of patients with prenatal diagnoses of mediastinal cysts was conducted to evaluate the ultrasound characteristics and to monitor the pregnancy outcomes to identify prognostic influences and provide a reliable basis for patient prognosis. Results: In total, 30 patients were diagnosed with mediastinal cysts [including bronchogenic cysts (n=12), esophageal cysts (n=9), pericardial cysts (n=5), and thymic cysts (n=4)] on prenatal ultrasonography. The diagnostic accuracy rate was 93.33%; two cases of esophageal cysts were misdiagnosed as bronchial cysts. In total, 4 (44.44%) of 9 esophageal cysts and 4 thymic cysts were located in the anterior mediastinum, 10 (83.33%) of 12 bronchogenic cysts and 5 pericardial cysts were located in the middle mediastinum, and 2 (16.67%) of 12 bronchogenic cysts and 5 (55.56%) of 9 esophageal cysts were located in the posterior mediastinum. There were significant differences in the distribution of the cyst location, morphology, and cyst wall thickness (P<0.05). After delivery, 17 patients had clinical symptoms. There was a significant difference in the clinical symptoms between patients with a maximum diameter of postpartum cysts <5 and ≥5 cm (P<0.05), and children with a low gestational age and birth weight were more likely to have clinical symptoms. Conclusions: The prenatal ultrasound features of fetal mediastinal cysts were similar. However, the ultrasound characteristics related to the cyst location, morphology, and cyst wall thickness were helpful in providing an accurate diagnosis. In addition, the postpartum cyst size, location, adjacent relationship with the surrounding tissues, volume, gestational age, and weight were related to patient prognosis.

12.
Artigo em Inglês | MEDLINE | ID: mdl-38748926

RESUMO

OBJECTIVE: There are conflicting data on whether fetoscopic laser photocoagulation of placental anastomoses (FLP) for treating twin-to-twin transfusion syndrome (TTTS) is associated with lower rates of overall survival. The objective of this study is to characterize survival and other associated morbidity after FLP across gestational ages of FLP. METHODS: This is a secondary analysis of prospectively collected data on patients with monochorionic-diamniotic twins that had FLP for TTTS at two centers between 2011 and 2022. Patients were divided into gestational age epochs for FLP before 18 wks, 18 0/7 - 19 6/7 wks, 20 0/7 - 21 6/7 wks, 22 0/7 - 23 6/7 wks, 24 0/7 - 25 6/7 wks and after 26 wks. Demographic characteristics, sonographic characteristics of TTTS and operative characteristics were compared across the gestational age epochs. Outcomes including overall survival, preterm delivery, preterm prelabor rupture of membranes (PPROM), intrauterine fetal demise (IUFD) and neonatal demise (NND) were also compared across gestational age epochs. Multivariate analysis was performed by fitting logistic regression models for these outcomes. Kaplan-Mejer curves were constructed to compare the interval from PPROM to delivery for each gestational age epoch. RESULTS: There were 768 patients that met inclusion criteria. The dual survival rate was 61.3% for FLP performed prior to 18 weeks compared to 78.0% - 86.7% across later gestational age epochs. This appears to be related to increased rates of donor IUFD following FLP performed before, versus after 18 weeks (28.0% vs. 9.3% - 14.1%). Rates of recipient IUFD/NND and donor NND were similar regardless of gestational age of FLP. Rates of PPROM were higher for earlier FLP, ranging from 45.6% for FLP before 18 weeks to 11.9% for FLP at 24 - 26 weeks gestational age. However, the gestational age of delivery was similar across gestational age epochs with a median of 31.7 weeks. In multivariate analysis, donor loss was independently associated with FLP before 18 weeks after adjusting for selective fetal growth restriction, Quintero stage and other covariates. PPROM and PTD were also associated with FLP before 18 weeks after adjusting for cervical length, placental location, trocar size, laser energy and amnioinfusion. CONCLUSION: FLP performed at earlier gestational ages is associated with lower overall survival, which is driven by higher risk of donor IUFD, as opposed to differences in PPROM or PTD. Counseling regarding survival should account for gestational age of presentation. This article is protected by copyright. All rights reserved.

13.
Heliyon ; 10(9): e29816, 2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-38737280

RESUMO

Introduction: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia that presents with abnormalities in the craniofacial region, teeth, and clavicles and is linked to RUNX2 mutation. Prenatal diagnoses of CCD have rarely been reported, and most of these cases have a positive family history. Here we report two prenatally diagnosed CCD cases without a positive family history. We conducted a literature review to summarize the prenatal sonographic findings of CCD. Case reports: Case 1 (a 26-year-old woman): ultrasound at 13 weeks showed a thickened nuchal translucency with absent nasal bones and poor ossifications in the cranium and vertebrae. Genetic testing confirmed a frame shift deletion of RUNX2. Case 2 (a 27-year-old woman): ultrasound at 32 weeks showed potential fetal skeletal dysplasia, with inadequate skull ossification, mild ossified bilateral clavicles, and RUNX2 frameshift deletion mutation. Both cases were diagnosed with CCD and the parents chose pregnancy termination. Conclusion: These cases underscore the importance of sonographic examination for prenatal CCD diagnosis with a negative family history. By reviewing previous cases, we concluded that combining NB hypoplasia, clavicle and skull hypoplasia, and shortened long bones may be effective for early screening for CCD. Prenatal diagnosis is crucial for guiding medical decisions.

14.
J Clin Ultrasound ; 52(5): 575-587, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38561934

RESUMO

OBJECTIVE: To analyze the value of prenatal ultrasound and molecular testing in diagnosing fetal skeletal dysplasia (SD). METHODS: Clinical data, prenatal ultrasound data, and molecular results of pregnant women with fetal SD were collected in the ultrasound department of our clinic from May 2019 to December 2021. RESULTS: A total of 40 pregnant women with fetal SD were included, with 82.5% exhibiting short limb deformity, followed by 25.0% with central nervous system malformations, 17.50% with facial malformations, 15% with cardiac malformations, and 12.5% with urinary system malformations. The genetic testing positive rate was 70.0% (28/40), with 92.8% (26/28) being single-gene disorders due to mutations in FGFR3, COL1A1, COL1A2, EVC2, FLNB, LBR, and TRPV4 genes. The most common SD subtypes were osteogenesis imperfecta (OI), thanatophoric dysplasia (TD), and achondroplasia (ACH). The gestational age (GA) at initial diagnosis for TD, OI, and ACH was 16.6, 20.9, and 28.3 weeks, respectively (p < 0.05), with no significant difference in femoral shortening between the three groups (p > 0.05). Of the OI cases, 5 out of 12 had a family history. CONCLUSION: Short limb deformity is the most prevalent phenotype of SD. When fetal SD is suspected, detailed ultrasound screening should be conducted, combined with GA at initial diagnosis, family history, and molecular evidence, to facilitate more accurate diagnosis and enhance prenatal counseling and perinatal management.


Assuntos
Ultrassonografia Pré-Natal , Humanos , Feminino , Ultrassonografia Pré-Natal/métodos , Gravidez , Adulto , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/embriologia , Doenças do Desenvolvimento Ósseo/genética , Estudos Retrospectivos , Testes Genéticos/métodos
15.
Am J Med Genet A ; 194(8): e63594, 2024 08.
Artigo em Inglês | MEDLINE | ID: mdl-38553895

RESUMO

Craniofacial microsomia (CFM) primarily includes specific head and neck anomalies that co-occur more frequently than expected. The anomalies are usually asymmetric and affect craniofacial features; however, there are frequently additional anomalies of variable severity. Published prenatal findings for CFM are limited. This study contributes 11 cases with CFM and their anomalies identified prenatally. Cases born between January 1, 1997 and December 31, 2019 with CFM were abstracted from the Alberta Congenital Anomalies Surveillance System, which is a population-based program ascertaining congenital anomalies for livebirths, stillbirths, and termination of pregnancies for fetal anomalies. There were 11 cases ascertained with prenatal findings including facial anomalies: one each with left cleft lip, right microtia, and bilateral microphthalmia. Two cases had vertebral anomalies. In addition, anomalies of the kidneys, brain, heart, and radial ray were identified. Six (55%) had a single umbilical artery, five (45%) were small for gestational age, and three (27%) were from a twin pregnancy that were discordant for anomalies. Four (36%) overlapped another proposed recurrent constellations of embryonic malformation condition. This study describes prenatal findings for 11 cases with CFM. Comparable to prior published cases, there were recurring anomalies on prenatal imaging, including anomalies of the brain, eye, heart, kidneys, and radial ray, which may aid in the prenatal diagnosis of CFM.


Assuntos
Síndrome de Goldenhar , Humanos , Feminino , Gravidez , Masculino , Síndrome de Goldenhar/genética , Síndrome de Goldenhar/epidemiologia , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/patologia , Alberta/epidemiologia , Diagnóstico Pré-Natal , Adulto , Recém-Nascido , Fenda Labial/epidemiologia , Fenda Labial/patologia , Fenda Labial/genética , Fenda Labial/diagnóstico , Fenda Labial/diagnóstico por imagem , Ultrassonografia Pré-Natal , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Anormalidades Múltiplas/diagnóstico
16.
Front Cardiovasc Med ; 11: 1341005, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38510199

RESUMO

Objective: This study aimed to assess the diagnostic value of prenatal echocardiography for identifying transposition of the great arteries (TGA) during pregnancy and evaluating the associated outcomes. Methods: We conducted a retrospective analysis of 121 prenatally diagnosed patients with TGA at our hospital between January 2012 and September 2022. This analysis included prenatal ultrasound, prenatal screening, clinical management and follow-up procedures. Results: Among the 103 fetuses considered in the study, 90 (87.4%) were diagnosed with complete transposition of the great arteries (D-TGA), while 13 (12.6%) exhibited corrected transposition of the great arteries (CC-TGA). Diagnoses were distributed across the trimester, with 8 D-TGA and 2 CC-TGA patients identified in the first trimester, 68 D-TGA patients and 9 CC-TGA patients in the second trimester, and 14 D-TGA and 2 CC-TGA patients referred for diagnosis in the third trimester. Induction of labour was pursued for 76 D-TGA patients (84.4%) and 11 CC-TGA patients (84.6%), and 14 D-TGA patients (15.6%) and 2 CC-TGA patients (15.4%) continued pregnancy until delivery. Among the D-TGA patients, 9 fetuses (10.0%) underwent surgery, two of which were inadvertent fatality, while the remaining seven experienced positive outcomes. Additionally, seven TGA patients received palliative care, leading to four fatalities among D-TGA patients (5.2%), whereas 1 D-TGA patients and 2 CC-TGA patients survived. Conclusion: This study underscores the feasibility of achieving an accurate prenatal diagnosis of TGA during early pregnancy. The utility of prenatal ultrasound in the development of personalized perinatal plans and the application of multidisciplinary treatment during delivery are conducive.

17.
Radiol Case Rep ; 19(5): 1753-1757, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38384702

RESUMO

Etiologies underlying the relatively infrequent third-trimester sonographic depiction of dilated fetal bowel include (functional or mechanical) bowel obstruction, intestinal atresia, volvulus, annular pancreas, intestinal malrotation, intussusception, gastrointestinal duplications, cystic fibrosis-associated meconium ileus, congenital chloride diarrhea, microvillus inclusion disease, intestinal neuronal dysplasia, and meconium plug syndrome. Fetal bowel obstruction may be associated with aneuploidy (mostly Trisomy 21 in association with esophageal or duodenal atresia), and rarely select microduplications or deletions. We present unusual sonographic findings associated with transient marked proximal fetal bowel dilatation in association with concurrent development of oligohydramnios, in a growth-restricted fetus at 35 weeks' gestation. This case supports that upon observation of dilated loops of fetal bowel, while not negating the potential need for delivery secondary to potential bowel compromise, consideration should be given for observation in anticipation of potential spontaneous resolution of this condition, especially among growth-restricted fetuses with decreased amniotic fluid volume in prematurity.

18.
BMC Pregnancy Childbirth ; 24(1): 101, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38302905

RESUMO

BACKGROUND: To analyze the genetic characteristics and long-term outcomes of fetuses with dysplasia of the corpus callosum (DCC) or partial agenesis of the corpus callosum (PACC). METHODS: A total of 42 fetuses with DCC (n = 36) or PACC (n = 6) were retrospectively analyzed from January 2016 to December 2022 at the Peking University First Hospital. The cohort was categorized into isolated (15/42, 36%) and nonisolated groups (27/42, 64%), and differences in the genetic abnormalities and long-term outcomes between the two groups were analyzed. DCC was subdivided into short CC, thin CC, and thick CC. The outcomes of the three different types of DCC were analyzed and discussed. RESULTS: (1) Thirty-nine of the 42 cases underwent CMA (chromosomal microarray analysis) and CMA + WES (whole exome sequencing), with 13/15 cases in isolated group and 26/27 cases in nonisolated group. Only pathogenic or likely pathogenic (P/LP) variants were considered, identifying P/LP variants in 2/13 cases in isolated group and 12/26 cases in nonisolated group. There was no significant difference between the two groups (χ² = 3.566, P = 0.05897). (2) In the isolated group, 8 cases were terminated, and 7 cases were delivered. Postnatal follow-up detected 1 case of gross motor development delay one year after birth; no obvious abnormalities were found in the other six cases. In the nonisolated group, 21 cases were terminated, and 6 cases were delivered. Postnatal follow-up detected 4 cases of children with different degrees of language, motor and intelligence abnormalities; 1 case died 10 days after birth. No obvious abnormalities were observed in one case. Six cases (86%, 6/7) in the isolated group showed normal development, compared with 1 case (17%, 1/6) in the nonisolated group, with a significant difference (χ² = 6.198, P = 0.01279). (3) In DCC, the delivery rates of short CCs (18 cases), thin CCs (13 cases), and thick CCs (5 cases) were 17% (3/18), 54% (7/13), and 20% (1/5), respectively, with good outcomes observed in 0% (0/3), 71% (5/7), and 0% (0/1), respectively. P/LP variants were found in 6/17 cases of short CC, 3/12 cases of thin CC, and 2/5 cases of thick CC. CONCLUSIONS: Fetuses with DCC or PACC combined with other structural abnormalities had a poor long-term prognosis compared with the isolated group. Patients with thin CCs had a higher probability of a good prognosis than those with short or thick CCs.


Assuntos
Agenesia do Corpo Caloso , Corpo Caloso , Ultrassonografia Pré-Natal , Gravidez , Criança , Feminino , Humanos , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Estudos Retrospectivos , Prognóstico , Feto , Diagnóstico Pré-Natal
19.
Ultrasound Med Biol ; 50(4): 580-585, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-38281887

RESUMO

OBJECTIVE: This study aimed to ascertain the conus medullaris position by counting the number of ossification centers in the vertebral bodies below the conus medullaris endpoint (N) and assess its utility in screening for closed spinal dysraphism and tethered cord syndrome. METHODS: A total of 900 normal fetuses and 146 fetuses with closed spinal dysraphism or tethered cord syndrome were included in this study. The N values were tallied and compared along the spinal longitudinal plane. The receiver operating characteristic curve was utilized, and the cut-off value of N was analyzed. RESULTS: The counting of N was successfully performed in 856 normal and 146 abnormal fetuses. In the normal group, an increase in N with gestational age was observed. Specifically, in the subgroup of 17-20 wk fetuses, N was ≥6 in 117 out of 131 cases. This figure increased to 211 out of 213 in 21-24 wk and 512 out of 512 in 25-41 wk, respectively. Cases with N ≥7 accounted for 715 out of 856 fetuses in the 17-41 wk range. In the abnormal group, N was less than 7 in 152 out of 163 fetuses, showing statistical differences between the two groups. With a cut-off value of 6.5, specificity and sensitivity reached 93.3% and 83.5%. CONCLUSIONS: The counting of N was found to be a straightforward and efficient method for evaluating the position of the conus medullaris.


Assuntos
Defeitos do Tubo Neural , Disrafismo Espinal , Humanos , Osteogênese , Medula Espinal/diagnóstico por imagem , Coluna Vertebral
20.
Texto & contexto enferm ; 33: e20230236, 2024. graf
Artigo em Inglês | LILACS-Express | LILACS, BDENF - Enfermagem | ID: biblio-1560560

RESUMO

ABSTRACT Objective: to understand how ultrasound tools are used in prenatal Nursing consultations from the perspective of obstetric nurses. Method: a descriptive and qualitative study carried out with ten obstetric nurses that use obstetric ultrasound in their Nursing consultations at a maternity hospital in Belo Horizonte, Minas Gerais, Brazil. Individual, semi-structured interviews were conducted between December 1st and 4th, 2021. The Atlas.ti software was employed to process the results using Bardin's thematic content analysis. Results: the obstetric nurses expanded comprehensive care for pregnant women by implementing the use of ultrasound technology during Obstetric Nursing consultations, thus innovating the practices in Brazil. However, they faced countless challenges, which they overcame thanks to the positive results of improving obstetric and fetal care. Conclusion: using ultrasound technology in Obstetric Nursing consultations represents an advance in the Nursing practice, as it enables access and qualification to timely care, free of charge and through the Unified Health System. The support and encouragement of the institutional management strengthened obstetric nurses' professional autonomy, mediating the implementation of innovation. The study focus is added to the technological development employed in the everyday work of Brazilian Nursing, increasing resoluteness of decision-making in health problems.


RESUMEN Objetivo: comprender cómo se utiliza la herramienta de ultrasonido en consultas de Enfermería prenatal, según la opinión de enfermeras especializadas en Obstetricia. Método: estudio descriptivo de enfoque cualitativo, realizado en una maternidad de Belo Horizonte, Minas Gerais, Brasil, con diez enfermeras(os) especializadas(os) en Obstetricia que utilizan ultrasonido obstétrico en consultas de Enfermería. Se llevaron a cabo entrevistas individuales y semiestructuradas entre el 1 y el 4 de diciembre de 2021. Se utilizó el programa de software Atlas.ti para procesar los resultados por medio de análisis temático de contenido según Bardin. Resultados: las enfermeras especializadas en Obstetricia ampliaron la atención integral provista a las embarazadas, implementando el uso de la tecnología de ultrasonido durante las consultas de Enfermería Obstétrica, innovando así las prácticas de la profesión en Brasil. No obstante, enfrentaron innumerables desafíos, que fueron superados gracias a los resultados positivos de calificación de la atención obstétrica y fetal. Conclusión: utilizar la tecnología de ultrasonido en consultas de Enfermería Obstétrica representa un avance en la práctica de Enfermería, puesto que permite acceder y calificar los cuidados en tiempo y forma, de manera gratuita y a través del Sistema Único de Salud. El apoyo e incentivo por parte de la gerencia institucional fortalecieron la autonomía profesional de las enfermeras especializadas en Obstetricia, mediando la implementación de la innovación. El punto central del estudio se suma al desarrollo tecnológico empleado en la rutina de trabajo de los profesionales de Enfermería en Brasil, expandiendo así la capacidad de resolución del proceso de toma de decisiones relacionado con problemas de salud.


RESUMO Objetivo: compreender o uso da ferramenta ultrassonográfica na consulta de enfermagem de pré-natal sob a perspectiva das enfermeiras obstétricas. Método: estudo descritivo, de abordagem qualitativa, realizado em uma maternidade de Belo Horizonte, Minas Gerais, Brasil, com dez enfermeiras(os) obstétricas(os) que utilizam a ultrassonografia obstétrica na consulta de enfermagem. Entrevista individual, semiestruturada, realizada entre 1º e 4 de dezembro de 2021. Utilizou-se o software Atlas.ti para o tratamento dos resultados por meio da análise de conteúdo temática de Bardin. Resultados: as enfermeiras obstétricas ampliaram o cuidado integral às gestantes, implementando a utilização da tecnologia ultrassonográfica durante a consulta de enfermagem obstétrica, inovando as práticas no Brasil. Entretanto, enfrentaram inúmeros desafios, que foram superados graças aos resultados positivos de qualificação do cuidado obstétrico e fetal. Conclusão: a utilização da tecnologia ultrassonográfica na consulta de enfermagem obstétrica significa um avanço na prática de enfermagem, pois possibilita acesso e qualificação ao cuidado em tempo oportuno, gratuitamente, pelo Sistema Único de Saúde. O apoio e o incentivo da gestão institucional fortaleceram a autonomia profissional das enfermeiras obstétricas, mediando a implementação da inovação. O foco do estudo soma-se ao desenvolvimento tecnológico empregado no cotidiano de trabalho da enfermagem brasileira, ampliando a resolubilidade da tomada de decisão aos agravos à saúde.

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