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1.
BMJ Open ; 11(9): e047188, 2021 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-34493509

RESUMO

INTRODUCTION: Over the last decades, a large body of literature has shown that intrapartum clinical digital pelvic estimations of fetal head position, station and progression in the pelvic canal are less accurate, compared with ultrasound (US) scan. Given the increasing evidence regarding the advantages of using US to evaluate the mechanism of labour, our study protocol aims to develop sonopartograms for fetal cephalic presentations. They will allow for a more objective evaluation of labour progression than the traditional labour monitoring, which could enable more rapid decisions regarding the mode of delivery. METHODS/ANALYSIS: This is a prospective observational study performed in three university hospitals, with an unselected population of women admitted in labour at term. Both clinical and US evaluations will be performed assessing fetal head position, descent and rotation. Specific US parameters regarding fetal head position, progression and rotation will be recorded to develop nomograms in a similar way that partograms were developed. The primary outcome is to develop nomograms for the longitudinal US assessment of labour in unselected nulliparous and multiparous women with fetal cephalic presentation. The secondary aims are to assess the sonopartogram differences in occiput anterior and posterior deliveries, to compare the labour trend from our research with the classic and other recent partogram models and to investigate the capability of the US labour monitoring to predict the outcome of spontaneous vaginal delivery. ETHICS AND DISSEMINATION: All protocols and the informed consent form comply with the Ministry of Health and the professional society ethics guidelines. University ethics committees approved the study protocol. The trial results will be published in peer-reviewed journals and at the conference presentations. The study will be implemented and reported in line with the Strengthening the Reporting of Observational Studies in Epidemiology statement. TRIAL REGISTRATION NUMBER: ClinicalTrials.gov Registry (NCT02326077).


Assuntos
Feto , Apresentação no Trabalho de Parto , Parto Obstétrico , Feminino , Feto/diagnóstico por imagem , Humanos , Estudos Observacionais como Assunto , Gravidez , Ultrassonografia , Ultrassonografia Pré-Natal
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(9): 900-906, 2021 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-34487541

RESUMO

OBJECTIVE: To investigate the application value of whole exome sequencing technology in fetuses with congenital structural abnormalities. METHODS: The chromosomal abnormalities of 1147 families were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in late pregnancy or after birth were reanalyzed. Subgroups were divided according to the organs involved and whether single malformation or not. The gene regulatory network map was drawn by using string database and Cytoscape software. Fisher exact probability method was used to compare the difference of the diagnostic rate of pathogenic genes among the groups. RESULTS: A total of 160 fetal cases received positive molecular diagnosed, involving 178 variant sites of 125 pathogenic genes, including 8 cases (4.9%, 8/163) by data reanalysis, and the overall positive diagnosis rate was 13.9%. Diagnostic rate was highest in the group of skeletal malformation (31.5%, 39/124) and lowest in that with thoracic malformation (0, 0/32). The gene clusters of fetal edema and intrauterine growth restriction were independent, and were not associated with the major structural malformations. The probability of each parent carrying the same recessive gene variant was 0.03 (39/1146) and 0.08 (4/53) with positive family history. CONCLUSION: For fetuses with congenital structural abnormalities that are negative for conventional genetic tests, 13.9% of phenotypic associated pathogenic/likely pathogenic genetic variants can be detected by whole exome sequencing technology. Its application value for prenatal diagnosis varies in fetus with different organs involved. Reanalysis of sequencing data for cases with new phenotypes in late pregnancy or after birth can further improve the molecular diagnosis rate. Further investigations are needed to explore the related genetic mechanisms.


Assuntos
Doenças Fetais , Feto , Feminino , Feto/diagnóstico por imagem , Humanos , Gravidez , Diagnóstico Pré-Natal , Tecnologia , Ultrassonografia Pré-Natal , Sequenciamento Completo do Exoma
3.
Am J Obstet Gynecol MFM ; 3(5): 100437, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34217855

RESUMO

BACKGROUND: Fetal head asynclitism may affect labor progress, increase the need for obstetrical intervention, and even be associated with difficult or failed instrumental delivery. However, there is limited evidence on the true prevalence and associations of asynclitism when diagnosed by transperineal ultrasound in the second stage of labor. OBJECTIVE: This study aimed to examine the prevalence and outcome of asynclitism in the second stage of labor in a regional hospital in Hong Kong. STUDY DESIGN: This is a prospective cohort study involving 92 term nulliparous women with singleton pregnancy in the second stage of labor, recruited from December 2019 to December 2020. Transperineal ultrasound was performed and asynclitism was diagnosed if there was asymmetry of intracranial structures on the transverse plane. To assess the fetal head station, the head perineum distance was measured at rest and on pushing, and the mode of delivery was recorded. Relationship between asynclitism and fetal head position, and between head perineum distance and the mode of delivery, were evaluated with chi-squared tests and Mann-Whitney U tests. RESULTS: The prevalence of asynclitism was 15% (14 of 92), of which 12 were anterior asynclitism and 2 were posterior asynclitism. The prevalence of asynclitism was less common in occiput anterior compared with nonocciput anterior position (6.7% vs 53%, P<.01). Women with asynclitism were associated with smaller delta head perineum distance (head perineum distance at rest minus that at pushing) than women without asynclitism (median [interquartile range], 0.68 cm [0.85 cm] vs 0.91 cm [0.71 cm]; P=.01). Eventually, there was a trend of more operative deliveries in women with asynclitism (43%, or 6 of 14 women) than in women without asynclitism (27%, or 21 of 78 women), although this difference was not statistically significant (P=.22). CONCLUSION: The prevalence of asynclitism at transperineal ultrasound was rather common in nulliparous women at second stage of labor and seemed more commonly associated with nonocciput anterior position.


Assuntos
Feto , Segunda Fase do Trabalho de Parto , Parto Obstétrico , Feminino , Feto/diagnóstico por imagem , Humanos , Apresentação no Trabalho de Parto , Gravidez , Prevalência , Estudos Prospectivos , Ultrassonografia Pré-Natal
4.
Eur J Obstet Gynecol Reprod Biol ; 263: 176-180, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34218205

RESUMO

OBJECTIVE: To evaluate the prognosis of fetuses with a prenatal diagnosis of micrognathia in the first trimester. STUDY DESIGN: Over a 3-year period, patients with fetal micrognathia were detected at the time of nuchal translucency screening. The medical records of these pregnancies were reviewed, including maternal demographics, sonographic findings, genetic testing results and pregnancy outcomes. RESULTS: Forty-three cases of first-trimester micrognathia were included in this study. Chromosomal abnormalities were detected in seven cases. Of the fetuses with a normal array, further investigation of monogenic disorders with whole-exome sequencing was undertaken in 13 cases. Monogenic syndromes were identified in eight cases, including six with de-novo dominant alleles and two with recessive conditions. Whole-exome sequencing was refused in 23 cases; among these, other additional anomalies were found on anatomic ultrasound in 10 cases. CONCLUSION: This study demonstrated that caution should be adopted when finding an apparently isolated micrognathia in early gestation, even with a normal array. A diagnosis of genetic syndrome or multiple anomalies on subsequent scans is most likely, and will affect the final prognosis.


Assuntos
Micrognatismo , Feminino , Feto/diagnóstico por imagem , Humanos , Micrognatismo/diagnóstico por imagem , Micrognatismo/genética , Medição da Translucência Nucal , Gravidez , Primeiro Trimestre da Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
5.
Zhonghua Fu Chan Ke Za Zhi ; 56(7): 458-466, 2021 Jul 25.
Artigo em Chinês | MEDLINE | ID: mdl-34304437

RESUMO

Objective: To evaluate the value of whole exome sequencing (WES) in prenatal clinical application. Methods: A total of 1 152 cases of congenital abnormal [including structural malformation, nuchal translucency (NT) thickening and intrauterine growth restriction] with traditional prenatal diagnosis [including G-band karyotype analysis and chromosome microarray analysis (CMA)] negative were analyzed. The congenital abnormal fetuses were divided into retrospective group and prospective group according to the time of WES detection, that is whether the pregnancy termination or not. According to the specific location of fetal malformation and their family history, the cohort was divided into subgroups. The clinical prognosis of all fetuses were followed up, and the effect of WES test results on pregnancy decision-making and clinical intervention were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in the third trimester or after birth were re-analyzed. Results: Among 1 152 families who received WES, 5 families were excluded because of nonbiological parents. Among the remaining 1 147 families, 152 fetuses obtained positive diagnosis (13.3%,152/1 147), including 74 fetuses in the retrospective group (16.1%,74/460) and 78 fetuses in the prospective group (11.4%,78/687). In fetuses with negative CMA and G-band karyotype analysis results but new phenotypes in the third trimester or after birth, the positive rate by WES data re-analysis was 4.9% (8/163). A total of 34 (21.3%, 34/160) fetuses were directly affected by the corresponding positive molecular diagnosis. Among 68 cases of live births with diagnostic variation grade 4, 29 cases (42.7%, 29/68) received appropriate medical intervention through rapid review of WES results. Conclusions: WES could increase the detection rate of abnormal fetuses with negative G-banding karyotype analysis and CMA by 13.3%. Prenatal WES could guide pregnancy decision-making and early clinical intervention. It might be an effective strategy to pay attention to the special follow-up of the third trimester and postnatal fetus and to re-analyze the WES data.


Assuntos
Anormalidades Congênitas , Diagnóstico Pré-Natal , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Feminino , Feto/diagnóstico por imagem , Humanos , Medição da Translucência Nucal , Gravidez , Estudos Prospectivos , Estudos Retrospectivos , Ultrassonografia Pré-Natal , Sequenciamento Completo do Exoma
6.
Ultrasound Med Biol ; 47(8): 2258-2265, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34059375

RESUMO

This study was aimed at evaluating the performance of the innovative technique Smart Fetus (SF) developed to recognize the planes and obtain the basic biometric measurements of fetuses automatically. This prospective study included 1005 uncomplicated singleton pregnancies undergoing routine examinations. For every pregnancy, planes, including the transverse section of the thalami, transverse section of the abdomen and longitudinal section of the femur, were acquired, and standard biometric measurements, including biparietal diameter, head circumference, abdominal circumference and femur length, were obtained using SF and traditional ultrasound technique (TUT). The accuracy, reproducibility and time required for the analysis of SF were compared with those of TUT. In 998 of 1005 cases (99.30%), SF successfully acquired the sections and made all measurements. The agreement between the techniques was high for all measurements. The time to obtain sections and measure biometric parameters or solely measure biometric parameters was significantly shorter with SF than with TUT. No significant differences were found in SF repeated measurements obtained by two independent observers. The SF technique helped in the acquisition of reliable standard sections and biometric measurements and saved time. It might serve as a novel ultrasound scanning approach and improve workflow efficiency.


Assuntos
Feto/anatomia & histologia , Feto/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Segundo Trimestre da Gravidez , Terceiro Trimestre da Gravidez , Estudos Prospectivos , Adulto Jovem
7.
Int J Comput Assist Radiol Surg ; 16(9): 1481-1492, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34185253

RESUMO

PURPOSE: Timely, accurate and reliable assessment of fetal brain development is essential to reduce short and long-term risks to fetus and mother. Fetal MRI is increasingly used for fetal brain assessment. Three key biometric linear measurements important for fetal brain evaluation are cerebral biparietal diameter (CBD), bone biparietal diameter (BBD), and trans-cerebellum diameter (TCD), obtained manually by expert radiologists on reference slices, which is time consuming and prone to human error. The aim of this study was to develop a fully automatic method computing the CBD, BBD and TCD measurements from fetal brain MRI. METHODS: The input is fetal brain MRI volumes which may include the fetal body and the mother's abdomen. The outputs are the measurement values and reference slices on which the measurements were computed. The method, which follows the manual measurements principle, consists of five stages: (1) computation of a region of interest that includes the fetal brain with an anisotropic 3D U-Net classifier; (2) reference slice selection with a convolutional neural network; (3) slice-wise fetal brain structures segmentation with a multi-class U-Net classifier; (4) computation of the fetal brain midsagittal line and fetal brain orientation, and; (5) computation of the measurements. RESULTS: Experimental results on 214 volumes for CBD, BBD and TCD measurements yielded a mean [Formula: see text] difference of 1.55 mm, 1.45 mm and 1.23 mm, respectively, and a Bland-Altman 95% confidence interval ([Formula: see text] of 3.92 mm, 3.98 mm and 2.25 mm, respectively. These results are similar to the manual inter-observer variability, and are consistent across gestational ages and brain conditions. CONCLUSIONS: The proposed automatic method for computing biometric linear measurements of the fetal brain from MR imaging achieves human-level performance. It has the potential of being a useful method for the assessment of fetal brain biometry in normal and pathological cases, and of improving routine clinical practice.


Assuntos
Encefalopatias , Imageamento por Ressonância Magnética , Encéfalo/diagnóstico por imagem , Feto/diagnóstico por imagem , Humanos , Redes Neurais de Computação
8.
Environ Health ; 20(1): 74, 2021 06 23.
Artigo em Inglês | MEDLINE | ID: mdl-34187482

RESUMO

BACKGROUND: Low birthweight, intrauterine growth restriction (IUGR) and perinatal mortality have been associated with air pollution. However, intervention studies that use ultrasound measurements to assess the effects of household air pollution (HAP) on fetal biometric parameters (FBP) are rare. We investigated the effect of a cookstove intervention on FBP and IUGR in a randomized controlled trial (RCT) cohort of HAP-exposed pregnant Nigerian women. METHODS: We recruited 324 women early in the second trimester of pregnancy. Between 16 and 18 weeks, we randomized them to either continue cooking with firewood/kerosene (control group) or receive a CleanCook stove and ethanol fuel (intervention group). We measured fetal biparietal diameter (BPD), head circumference (HC), femur length (FL), abdominal circumference (AC) and ultrasound-estimated fetal weight (U-EFW) in the second and third trimesters. The women were clinically followed up at six regular time points during their pregnancies. Once during the women's second trimester and once during the third, we made 72-h continuous measurements of their personal exposures to particulate matter having aerodynamic diameter < 2.5 µm (PM2.5). We adopted a modified intent-to-treat approach for the analysis. Differences between the intervention and control groups on impact of HAP on fetal growth trajectories were analyzed using mixed effects regression models. RESULTS: There were no significant differences in fetal growth trajectories between the intervention and control groups. CONCLUSIONS: Larger studies in a setting of low ambient air pollution are required to further investigate the effect of transitioning to a cleaner fuel such as ethanol on intrauterine growth. TRIAL REGISTRATION: ClinicalTrials.gov NCT02394574 ; September 2012.


Assuntos
Poluentes Atmosféricos/análise , Poluição do Ar em Ambientes Fechados/análise , Culinária , Desenvolvimento Fetal , Material Particulado/análise , Adolescente , Adulto , Etanol , Feminino , Retardo do Crescimento Fetal , Feto/diagnóstico por imagem , Habitação , Humanos , Querosene , Exposição Materna , Troca Materno-Fetal , Nigéria , Gravidez , Ultrassonografia Pré-Natal , Madeira , Adulto Jovem
9.
J Obstet Gynaecol Res ; 47(9): 3084-3090, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34128277

RESUMO

AIM: To construct the nomogram of fetal right portal vein (RPV) diameter at 30 to 35 weeks' gestation in Thai pregnant population and the use of RPV measurement to predicting small for gestational age (SGA) fetus. METHODS: A prospective, cross-sectional study of singleton pregnancies at antenatal visit between 30 and 35+6 weeks of gestation in single center, Bhumibol Adulyadej Hospital (BAH) was conducted from January to August 2020. Ultrasonography of fetal biometry and RPV diameter measurement were performed as well as immediate newborn birth weight measurement. The nomogram of fetal RPV was developed for standardization for Thai people. RESULTS: A total of 219 singleton pregnant women were enrolled and ultrasonographic measurement of RPV and fetal biometry was obtained. Mean maternal age and gestational period were 29.4 years and 33.0 weeks, respectively. One third of participants were classified as obese. RPV diameter ranged from 1.85 to 6.07 mm and increased linearly with gestational age. The optimal threshold of RPV diameter for diagnosis SGA was less than 3.06 mm with area under ROC curve at a level of 0.613 (95%CI 0.496 to 0.731). Sensitivity and specificity were 38.46% and 83.94%, respectively. There was no fetal death or neonatal morbidity in the present study. CONCLUSION: RPV diameter increases in size depending on gestational age. RPV diameter at 30 to 35+6 weeks gestation was a useful measurement for SGA prediction. RPV measurements greater than 3.06 mm strongly indicated normal fetal growth.


Assuntos
Nomogramas , Veia Porta , Estudos Transversais , Feminino , Retardo do Crescimento Fetal , Peso Fetal , Feto/diagnóstico por imagem , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional , Veia Porta/diagnóstico por imagem , Valor Preditivo dos Testes , Gravidez , Terceiro Trimestre da Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal
10.
Eur J Obstet Gynecol Reprod Biol ; 263: 50-55, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34167033

RESUMO

BACKGROUND: Evaluation of the external genitalia is an important part of prenatal ultrasound. However, there is no standardized methodology that includes biometric measurements and normative data to be able to carry out this evaluation. OBJECTIVE: To develop a standardized methodology for fetal genital biometry and obtain reference values for use in mid-trimester ultrasound. STUDY DESIGN: A prospective cross-sectional study was used. 273 male and 253 female fetuses of normal, singleton pregnancies at 18 to 22 weeks were included. Measurements of fetal penis length, penile width and transverse scrotal diameter in male fetuses and bilabial diameter in female fetuses were performed by transabdominal ultrasound. Reference values were calculated for each gestational week. RESULTS: Realization of the open-legs axial plane is described as a working methodology. Normative data for penile length, penile width, transverse scrotal diameter and bilabial diameter are defined, including mean, minimum and maximum values, range, and 5th, 10th, 90th and 95th percentiles. CONCLUSIONS: We have provided a standardized methodology using the open-legs axial plane, which would integrate the main measurements. In addition with the normative data constructed from their use, we hope to be able to improve the external genitalia assessment and diagnosis of genital anomalies in mid-trimester ultrasound.


Assuntos
Perna (Membro) , Ultrassonografia Pré-Natal , Biometria , Estudos Transversais , Feminino , Feto/diagnóstico por imagem , Genitália , Idade Gestacional , Humanos , Masculino , Gravidez , Estudos Prospectivos , Valores de Referência
11.
J Vet Med Sci ; 83(7): 1138-1143, 2021 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-34092744

RESUMO

From 2012 to 2017, serial ultrasonographic evaluation of 5 healthy bottlenose dolphins, Tursiops truncatus, were performed over the course of 6 pregnancies in Enoshima Aquarium. A total of 98 ultrasonographic examinations were included in the study. In three out of six cases, two embryos were observed between umbilicus and genital slit, and side of umbilicus in the dam's body. All embryos were located in right below the peritoneum and observed from 308 to 325 days pre-partum. These days were corresponding to from 58 to 61 days after copulation respectively. The diameter of the embryo sac was approximately 4 cm. In three cases, the fetal head was located in the dam's left lateral between umbilicus and genital slit from approximately 90 days pre-partum to the parturition. A snout of fetus is at the top of the uterine horn, and the tail lies close to the cervix. All six calves were fluke-first births (breech presentation). It was conjectured that the contraction of the dam's uterus during parturition forced the fetus to invert, and the fetal tail fluke was expelled from the dam's body. In three cases, judging from orientation of fetal tail fluke faced towards left side of the dam, a fetal position might be RSL (Right Sacrum-Lateral) within the birth canal. In the other three cases, the left and right positions of the fetus and the dam's body are reversed during pregnancy and parturition.


Assuntos
Golfinho Nariz-de-Garrafa , Animais , Embrião de Mamíferos , Feminino , Feto/diagnóstico por imagem , Parto , Gravidez , Útero
12.
Acta Orthop Traumatol Turc ; 55(3): 196-200, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34100358

RESUMO

OBJECTIVE: This study aimed to determine the predictability of developmental dysplasia of the hip (DDH) in the prenatal period by means of evaluating fetal hips using the Graf method on obstetric ultrasonography (US) after the 34th week of gestation. METHODS: A total of 84 pregnant women (mean age = 27.04; age range = 19-46 years), who were referred to our radiology clinic for an obstetric US examination in the third trimester, and their fetuses were included in this study. In the obstetric US, alpha angles of both hips of the fetuses were measured based on Graf's method, and each case was assessed ultrasonographically by a second physician at 6-10 postnatal weeks. Prenatal and postnatal hips were then classified according to alpha angles as ≥ 60° or < 60°. The kappa coefficients between the diagnoses based on prenatal and postnatal alpha angles were calculated. RESULTS: According to the postnatal alpha angle, 77 fetuses were diagnosed to have type 1 right hip and 7 fetuses had type 2A right hip. The prenatal alpha angle provided the same results (77 type 1 and 7 type 2A right hips). Similarly, the postnatal alpha angle revealed type 1 left hip in 82 fetuses and type 2A left hip in 2 fetuses, which was the same as the diagnoses based on the prenatal alpha angles. There was a complete agreement between prenatal and postnatal alpha measurements for both the left and right hips (kappa = 1.00, P < 0.001). CONCLUSION: Evidence from this study has revealed that DDH can be identified by obstetric ultrasonographic examinations in the prenatal period.


Assuntos
Displasia do Desenvolvimento do Quadril/diagnóstico , Feto/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Seguimentos , Luxação Congênita de Quadril/diagnóstico , Luxação Congênita de Quadril/etiologia , Articulação do Quadril/diagnóstico por imagem , Humanos , Recém-Nascido , Valor Preditivo dos Testes , Gravidez , Terceiro Trimestre da Gravidez
13.
J Anesth ; 35(4): 595-598, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34075478

RESUMO

Recent technological developments in three-dimensional (3D) printing have created new opportunities for applications in clinical medicine. 3D printing has been adopted for teaching and planning complicated surgeries, including maxillofacial, orthopedic reconstructions, and airway manipulation for one-lung ventilation or airway stenting. We present here the first use of such technology to print a model from in utero imaging for intrapartum treatment planning. A 32-week fetus presented with congenital high airway obstruction syndrome (CHAOS) due to a large cervical lymphatic malformation. An ex utero intrapartum treatment (EXIT) procedure was planned to allow delivery of a viable infant. We printed a 3D model of the fetal airway by printing separate elements: mandible, tongue, mass, larynx, and trachea from the fetal MRI. The elements were stuck together maintaining correct anatomical relationships. Airway planning was then performed in consultation with a pediatric ear nose and throat (ENT) surgeon. 3D modeling in utero presents many challenges: the resolution of the 3D model generated from a fetal MRI is less crisp than from CT images, fetal position may be variable and not in a defined anatomical plane, movement artifact occurs. Nevertheless, pre-procedure simulations with the aid of 3D modeling promoted team cooperation and well-prepared management of the fetus during EXIT.


Assuntos
Obstrução das Vias Respiratórias , Laringe , Obstrução das Vias Respiratórias/diagnóstico por imagem , Obstrução das Vias Respiratórias/cirurgia , Criança , Feto/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Traqueia
14.
Medicine (Baltimore) ; 100(18): e25777, 2021 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-33950970

RESUMO

RATIONALE: The chromosome 18p deletion syndrome is a syndrome with a deletion of all or a portion of the short arm of the chromosome 18. The phenotypes of the chromosome 18p deletion syndrome vary widely among individuals due to differences in size and breakpoints and the involved genes on the deletions. Given the varied and untypical clinical presentation of this syndrome, the prenatal diagnosis of the syndrome still presents as a challenge. PATIENT CONCERNS: We described 4 China cases with different chromosomal breakpoints. In case 1, a woman who with mild phenotypes gave birth to a severely deformed fetus. Three other cases were for prenatal diagnosis. Their phenotypes are the increased nuchal translucency (INT) and the noninvasive prenatal testing (NIPT) indicated deletions on the chromosome 18p and severe hydronephrosis respectively. DIAGNOSIS: The 4 cases were diagnosed with chromosome 18p deletion syndrome through karyotype analysis and array-based comparative genomic hybridization (array-CGH). INTERVENTIONS: Karyotype analysis and array-based comparative genomic hybridization were used to analyze the abnormal chromosome. OUTCOMES: Case 1 and case 2 revealed 11.51 and 12.39 Mb deletions in 18p11.32p11.21. Case 3 revealed 7.1 Mb deletions in 18p11.3218p11.23. Case 4 revealed 9.9 Mb deletions in 18p11.3218p11.22. LESSONS: In our report, we are the first to report that mother and progeny who have the same chromosomal breakpoint have different phenotypes, significantly. In addition, we found a new phenotype of chromosome 18p deletion syndrome in fetus, which can enrich the phenotypes of this syndrome in the prenatal diagnosis. Finally, we demonstrate that the individuals with different chromosomal breakpoints of 18p deletion syndrome have different phenotypes. On the other hand, the individuals with the same chromosomal breakpoints of 18p deletion syndrome may also have remarkably different phenotypes.


Assuntos
Cariótipo Anormal , Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 18/genética , Feto/anormalidades , Hidronefrose/diagnóstico , Adulto , Deleção Cromossômica , Transtornos Cromossômicos/genética , Feminino , Feto/diagnóstico por imagem , Humanos , Hidronefrose/genética , Cariotipagem , Teste Pré-Natal não Invasivo , Medição da Translucência Nucal , Gravidez , Índice de Gravidade de Doença
15.
BMC Pregnancy Childbirth ; 21(1): 365, 2021 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-33964891

RESUMO

BACKGROUND: Accurate estimation of fetal weight is important for prenatal care and for detection of fetal growth abnormalities. Prediction of fetal weight entails the indirect measurement of fetal biometry by ultrasound that is then introduced into formulae to calculate the estimated fetal weight. The aim of our study was to evaluate the accuracy of fetal weight estimation of Chinese fetuses in the third trimester using an automated three-dimensional (3D) fractional limb volume model, and to compare this model with the traditional two-dimensional (2D) model. METHODS: Prospective 2D and 3D ultrasonography were performed among women with singleton pregnancies 7 days before delivery to obtain 2D data, including fetal biparietal diameter, abdominal circumference and femur length, as well as 3D data, including the fractional arm volume (AVol) and fractional thigh volume (TVol). The fetal weight was estimated using the 2D model and the 3D fractional limb volume model respectively. Percentage error was defined as (estimated fetal weight - actual birth weight) divided by actual birth weight and multiplied by 100. Systematic errors (accuracy) were evaluated as the mean percentage error (MPE). Random errors (precision) were calculated as ±1 SD of percentage error. The intraclass correlation coefficient (ICC) was used to analyze the inter-observer reliability of the 3D ultrasound measurements of fractional limb volume. RESULTS: Ultrasound examination was performed on 56 fetuses at 39.6 ± 1.4 weeks' gestation. The average birth weight of the newborns was 3393 ± 530 g. The average fetal weight estimated by the 2D model was 3478 ± 467 g, and the MPE was 3.2 ± 8.9. The average fetal weights estimated by AVol and TVol of the 3D model were 3268 ± 467 g and 3250 ± 485 g, respectively, and the MPEs were - 3.3 ± 6.6 and - 3.9 ± 6.1, respectively. For the 3D TVol model, the proportion of fetuses with estimated error ≤ 5% was significantly higher than that of the 2D model (55.4% vs. 33.9%, p < 0.05). For fetuses with a birth weight < 3500 g, the accuracy of the AVol and TVol models were better than the 2D model (- 0.8 vs. 7.0 and - 2.8 vs. 7.0, both p < 0.05). Moreover, for these fetuses, the proportions of estimated error ≤ 5% of the AVol and TVol models were 58.1 and 64.5%, respectively, significantly higher than that of the 2D model (19.4%) (both p < 0.05). The inter-observer reliability of measuring fetal AVol and TVol were high, with the ICCs of 0.921 and 0.963, respectively. CONCLUSION: In this cohort, the automated 3D fractional limb volume model improves the accuracy of weight estimation in most third-trimester fetuses. Prediction accuracy of the 3D model for neonatal BW, particularly < 3500 g was higher than that of the traditional 2D model.


Assuntos
Peso Fetal , Feto/diagnóstico por imagem , Imageamento Tridimensional , Coxa da Perna/anatomia & histologia , Ultrassonografia Pré-Natal/métodos , Adulto , Estudos Transversais , Feminino , Humanos , Gravidez , Terceiro Trimestre da Gravidez , Estudos Prospectivos , Software , Coxa da Perna/diagnóstico por imagem
16.
Nat Med ; 27(5): 882-891, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33990806

RESUMO

Congenital heart disease (CHD) is the most common birth defect. Fetal screening ultrasound provides five views of the heart that together can detect 90% of complex CHD, but in practice, sensitivity is as low as 30%. Here, using 107,823 images from 1,326 retrospective echocardiograms and screening ultrasounds from 18- to 24-week fetuses, we trained an ensemble of neural networks to identify recommended cardiac views and distinguish between normal hearts and complex CHD. We also used segmentation models to calculate standard fetal cardiothoracic measurements. In an internal test set of 4,108 fetal surveys (0.9% CHD, >4.4 million images), the model achieved an area under the curve (AUC) of 0.99, 95% sensitivity (95% confidence interval (CI), 84-99%), 96% specificity (95% CI, 95-97%) and 100% negative predictive value in distinguishing normal from abnormal hearts. Model sensitivity was comparable to that of clinicians and remained robust on outside-hospital and lower-quality images. The model's decisions were based on clinically relevant features. Cardiac measurements correlated with reported measures for normal and abnormal hearts. Applied to guideline-recommended imaging, ensemble learning models could significantly improve detection of fetal CHD, a critical and global diagnostic challenge.


Assuntos
Ecocardiografia Tridimensional/métodos , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/patologia , Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/métodos , Adulto , Biometria , Feminino , Feto/anormalidades , Feto/diagnóstico por imagem , Coração/diagnóstico por imagem , Humanos , Programas de Rastreamento/métodos , Miocárdio/patologia , Redes Neurais de Computação , Gravidez , Segundo Trimestre da Gravidez , Sensibilidade e Especificidade , Tórax/diagnóstico por imagem , Adulto Jovem
17.
Obstet Gynecol Clin North Am ; 48(2): 267-279, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33972065

RESUMO

Abnormal fetal growth (growth restriction and overgrowth) is associated with perinatal morbidity, mortality, and lifelong risks to health. To describe abnormal growth, "small for gestational age" and "large for gestational age" are commonly used terms. However, both are statistical definitions of fetal size below or above a certain threshold related to a reference population, rather than referring to an abnormal condition. Fetuses can be constitutionally small or large and thus healthy, whereas fetuses with seemingly normal size can be growth restricted or overgrown. Although golden standards to detect abnormal growth are lacking, understanding of both pathologic conditions has improved significantly.


Assuntos
Desenvolvimento Fetal , Retardo do Crescimento Fetal/epidemiologia , Macrossomia Fetal/epidemiologia , Recém-Nascido Pequeno para a Idade Gestacional , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Macrossomia Fetal/diagnóstico por imagem , Feto/diagnóstico por imagem , Idade Gestacional , Humanos , Recém-Nascido , Placenta/diagnóstico por imagem , Insuficiência Placentária/diagnóstico por imagem , Insuficiência Placentária/epidemiologia , Gravidez , Ultrassonografia Doppler/métodos , Ultrassonografia Pré-Natal/métodos , Artérias Umbilicais/diagnóstico por imagem
18.
Obstet Gynecol Clin North Am ; 48(2): 339-357, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33972070

RESUMO

Antenatal imaging is crucial in the management of high-risk pregnancies. Accurate dating relies on acquisition of reliable and reproducible ultrasound images and measurements. Quality image acquisition is necessary for assessing fetal growth and performing Doppler measurements to help diagnose pregnancy complications, stratify risk, and guide management. Further research is needed to ascertain whether current methods for estimating fetal weight can be improved with 3-dimensional ultrasound or magnetic resonance imaging; optimize dating with late initiation of prenatal care; minimize under-diagnosis of fetal growth restriction; and identify the best strategies to make ultrasound more available in low-income and middle-income countries.


Assuntos
Desenvolvimento Fetal , Retardo do Crescimento Fetal/diagnóstico por imagem , Macrossomia Fetal/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Feminino , Feto/diagnóstico por imagem , Idade Gestacional , Saúde Global , Humanos , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Gravidez , Gravidez de Alto Risco , Gravidez de Gêmeos , Cuidado Pré-Natal/métodos , Reprodutibilidade dos Testes , Fatores de Risco , Ultrassonografia Doppler/métodos
19.
Obstet Gynecol Clin North Am ; 48(2): 371-385, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33972072

RESUMO

Impaired fetal growth owing to placental insufficiency is a major contributor to adverse perinatal outcomes. No intervention is available that improves outcomes by changing the pathophysiologic process. Monitoring in early-onset fetal growth restriction (FGR) focuses on optimizing the timing of iatrogenic preterm delivery using cardiotocography and Doppler ultrasound. In late-onset FGR, identifying the fetus at risk for immediate hypoxia and who benefits from expedited delivery is challenging. It is likely that studies in the next decade will provide evidence how to best integrate different monitoring variables and other prognosticators in risk models that are aimed to optimize individual treatment strategies.


Assuntos
Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/terapia , Cardiotocografia/métodos , Parto Obstétrico/métodos , Feminino , Desenvolvimento Fetal , Retardo do Crescimento Fetal/etiologia , Feto/diagnóstico por imagem , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional , Insuficiência Placentária/diagnóstico por imagem , Gravidez , Nascimento Prematuro/etiologia , Cuidado Pré-Natal/métodos , Ultrassonografia Doppler/métodos , Ultrassonografia Pré-Natal/métodos , Artérias Umbilicais/diagnóstico por imagem
20.
BMC Pregnancy Childbirth ; 21(1): 324, 2021 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-33894762

RESUMO

BACKGROUND: To establish reference ranges of fetal facial profile markers and study their correlations with crown-rump length (CRL) during the first trimester (11 ~ 13+ 6 weeks' gestation) in a Chinese population. METHODS: Ultrasonographic images of measuring fetal nuchal translucency (NT) were retrospectively selected randomly in normal fetuses whose parents were both Chinese. The facial markers included inferior facial angle (IFA), maxilla-nasion-mandible (MNM) angle, facial maxillary angle (FMA) and profile line (PL) distance. These markers were measured through ViewPoint 6 software by two experienced sonographers. RESULTS: Three hundred and eighty fetuses were selected. The ICCs (95 % CI) of intra-operator 1 reproducibility of IFA, MNM angle, FMA, PL distance were 0.944 (0.886 ~ 0.973), 0.804 (0.629 ~ 0.902), 0.834 (0.68 ~ 0.918) and 0.935 (0.868 ~ 0.969), respectively. The ICCs (95 % CI) of intra-operator 2 reproducibility of IFA, MNM angle, FMA, PL distance were 0.931 (0.857 ~ 0.967), 0.809 (0.637 ~ 0.904), 0.786 (0.600 ~ 0.892) and 0.906 (0.813 ~ 0.954), respectively. The ICCs (95 % CI) of inter-operator reproducibility of IFA, MNM angle, FMA, PL distance were 0.885 (0.663 ~ 0.953), 0.829 (0.672 ~ 0.915), 0.77 (0.511 ~ 0.891) and 0.844 (0.68 ~ 0.925), respectively. The average ± SD of IFA, MNM angle, FMA and PL distance were 80.2°±7.25°, 4.17°±1.19°, 75.36°±5.31°, 2.78 ± 0.54 mm, respectively. IFA and PL distance significantly decreased with CRL, while MNM angle and FMA significantly increased with CRL. CONCLUSIONS: It was feasible to measure fetal facial markers during the first trimester. In Chinese population, the reference ranges of IFA, MNM angle, FMA and PL distance were 80.2°±7.25°, 4.17°±1.19°, 75.36°±5.31°, 2.78 ± 0.54 mm, respectively, and the measurements were found to correlate with CRL.


Assuntos
Estatura Cabeça-Cóccix , Face , Feto/diagnóstico por imagem , Medição da Translucência Nucal/métodos , Ultrassonografia Pré-Natal/métodos , Adulto , China/epidemiologia , Precisão da Medição Dimensional , Face/anormalidades , Face/diagnóstico por imagem , Estudos de Viabilidade , Feminino , Idade Gestacional , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Reprodutibilidade dos Testes
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