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1.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 69(3): 404-409, Mar. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1422672

ABSTRACT

SUMMARY OBJECTIVE: The aim of this study was to compare the correlation of maternal visceral adiposity with sonographic variables related to fetal biometry in the second trimester of pregnancy in mothers who were previously obese versus nonobese and gestational diabetic versus nondiabetic. METHODS: This cross-sectional study included 583 pregnant women who received prenatal care between October 2011 and September 2013 at the Instituto de Medicina Integral Prof. Fernando Figueira, northeast of Brazil. Maternal visceral adiposity was measured by ultrasound examination at the same time as fetal biometry. Gestational age was 14.9±3.2 weeks. The correlation between maternal visceral adiposity and fetal biometric variables was evaluated using Pearson's correlation coefficient. Among the groups, the correlation coefficients were compared using Fisher's Z-test. This test was also used to evaluate the null hypothesis of correlation coefficients between pairs of variables. RESULTS: Maternal visceral adiposity positively correlated with fetal abdominal circumference, estimated fetal weight, head circumference, femur length, and biparietal diameter in pregnant women with obesity, nonobesity, gestational diabetes, and nondiabetes, but the correlation coefficients were statistically similar among the groups. CONCLUSION: Maternal visceral adiposity positively correlated with fetal biometry in the second trimester of pregnancy in the same manner in pregnant women previously obese and nonobese, as well as in pregnant women with gestational diabetes and nondiabetes.

2.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 69(2): 303-307, Feb. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1422637

ABSTRACT

SUMMARY OBJECTIVE: The aim of this study was to compare the efficiency of fetal thymic-thoracic ratio and fetal thymus transverse diameter measurements in gestational diabetes mellitus. METHODS: Fetal thymic-thoracic ratio and fetal thymus transverse diameter were assessed in 360 pregnant women. Patients were examined in two groups: 180 gestational diabetes mellitus (study group) and 180 healthy pregnant women (control group). RESULTS: There were no statistically significant differences between the cases with gestational diabetes mellitus and the control group in terms of fetal thymus transverse diameter; however, the fetal thymic-thoracic ratio was found to be significantly lower in cases with gestational diabetes mellitus compared to that in the control group (p<0.001). CONCLUSION: The fetal thymic-thoracic ratio is superior to the fetal thymus transverse diameter in evaluating the fetal thymus size.

3.
Radiol. bras ; 56(4): 179-186, 2023. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1514660

ABSTRACT

Abstract Objective: To evaluate the capacity of fetal Doppler, maternal, and obstetric characteristics for the prediction of cesarean section due to intrapartum fetal compromise (IFC), a 5-min Apgar score < 7, and an adverse perinatal outcome (APO), in a high-risk population. Materials and Methods: This was a prospective cohort study involving 613 singleton pregnant women, admitted for labor induction or at the beginning of spontaneous labor, who underwent Doppler ultrasound within the last 72 h before delivery. The outcome measures were cesarean section due to IFC, a 5-min Apgar score < 7, and any APO. Results: We found that maternal characteristics were neither associated with nor predictors of an APO. Abnormal umbilical artery (UA) resistance index (RI) and the need for intrauterine resuscitation were found to be significant risk factors for cesarean section due to IFC (p = 0.03 and p < 0.0001, respectively). A UA RI > the 95th percentile and a cerebroplacental ratio (CPR) < 0.98 were also found to be predictors of cesarean section due to IFC. Gestational age and a UA RI > 0.84 were found to be predictors of a 5-min Apgar score < 7 for newborns at < 29 and ≥ 29 weeks, respectively. The UA RI and CPR presented moderate accuracy in predicting an APO, with areas under the ROC curve of 0.76 and 0.72, respectively. Conclusion: A high UA RI appears to be a significant predictor of an APO. The CPR seems to be predictive of cesarean section due to IFC and of an APO in late preterm and term newborns.


Resumo Objetivo: Avaliar a capacidade do Doppler fetal e características materno-obstétricas na predição de cesariana por comprometimento fetal intraparto (CFI), índice de Apgar de 5º min < 7 e desfecho perinatal adverso (DPA) em uma população de alto risco. Materiais e Métodos: Estudo de coorte prospectivo envolvendo 613 parturientes admitidas para indução ou em início de trabalho de parto espontâneo que realizaram ultrassonografia Doppler nas 72 horas anteriores ao parto. Os desfechos foram cesariana por CFI, índice de Apgar de 5º min < 7 e DPA. Resultados: As características maternas não foram associadas nem preditoras de DPA. Índice de resistência (IR) da artéria umbilical anormal (p = 0,03) e necessidade de medidas de ressuscitação intrauterina (p < 0,0001) permaneceram como fatores de risco significativos para cesariana por CFI. IR AU > 95º e razão cerebroplacentária (RCP) < 0,98 foram preditores de cesariana. Idade gestacional e IR AU > 0,84 foram os preditores de índice de Apgar de 5º min < 7 para recém-nascidos < 29 e ≥ 29 semanas, respectivamente. IR AU e RCP apresentaram acurácia moderada na predição de DPA (área sob a curva ROC de 0,76 e 0,72, respectivamente). Conclusão: IR UA mostrou-se preditor significativo de DPA. RCP revelou-se possível preditora de cesariana por CFI e DPA em recémnascidos prematuros tardios e a termo.

4.
An. bras. dermatol ; 98(6): 806-813, 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1520035

ABSTRACT

Abstract Background Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 gene. Because of its rarity and the often-late onset, prenatal screening for HI is extremely difficult, and most pregnant women might easily miss the period for optimal examinations. Objective To summarize the sonographic features of HI for prenatal diagnostic purposes. Methods The authors describe a case of HI with no family history who was diagnosed by using prenatal ultrasound scanning. The sonographic features of HI and the clinical characteristics of pregnant women were summarized by searching relevant literature over nearly two decades. Results The unique sonographic presentations including peeling skin, clenched hands and clubfeet, ectropion, flat nose, fetal growth impairment, polyhydramnios and echogenic amniotic fluid may be primarily related to skin disorders in HI fetuses. The authors also identified a novel pathogenic ABCA12 gene mutation and explained the possible pathogenic mechanisms. Study limitations Caution should be exercised in summarizing disease characteristics because of the small number of cases, and the authors are faced with the possibility of incomplete case searching. Conclusions HI has relatively unique sonographic features. Therefore, 2D-ultrasound combined with 3D-ultrasound may be an effective method for the prenatal diagnosis of HI. Moreover, a novel pathogenic ABCA12 gene mutation may provide important clues for future research on the etiology of HI. However, the authors consider that additional studies are needed to provide more evidence for prenatal diagnosis.

5.
Chinese Journal of Perinatal Medicine ; (12): 681-683, 2023.
Article in Chinese | WPRIM | ID: wpr-995155

ABSTRACT

This article reported a case of fetal testicular torsion diagnosed by prenatal ultrasound. Ultrasound examination at 38 weeks of gestation showed a slightly enhanced echo in the left testicle of the fetus and fluid accumulation within the testicular sheath cavity and between the sheath and fascia, presenting a 'double-ring' sign. An emergency cesarean section was performed considering the risk of acute fetal testicular torsion. Postnatal ultrasound images revealed abnormalities in the left testicle of the neonate and peripheral effusion with a 'double-ring' echo. The patient was considered to have congenital testicular torsion (with a high possibility of extravaginal type) and received an emergency treatment of left testicular torsion reduction combined with testicular fixation surgery and right testicular fixation surgery. Six months after surgery, reexamination by ultrasound showed the testicles of the newborn were normal.

6.
Chinese Journal of Perinatal Medicine ; (12): 664-668, 2023.
Article in Chinese | WPRIM | ID: wpr-995152

ABSTRACT

Objective:To detect the levels of γ-glutamyl transferase (GGT) in the amniotic fluid of normal pregnancies at 19-23 +6 gestational weeks and to analyze the changes in GGT level with gestational age. Methods:This study retrospectively collected the amniotic fluid supernatant from 383 singleton pregnant women (102, 103, 82, 68 and 28 cases at 19-19 +6, 20-20 +6, 21-21 +6, 22-22 +6, 23-23 +6 weeks of gestation, respectively) who underwent amniocentesis for prenatal diagnosis but had normal genetic diagnosis results in Cheeloo Hospital of Shandong University from January 2021 to September 2022. The levels of GGT in the amniotic fluid supernatant were tested and the statistical parameters including xˉ± s, min-max, median ( M), P1, P2.5, P5, P95, P97.5 and P99 values of GGT levels at each gestational week were calculated. GGT were non-normal data and converted into natural logarithms (lnGGT), and a least square linear regression equation was established to analyze the relationship between lnGGT and gestational week. Results:At 19-19 +6, 20-20 +6, 21-21 +6, 22-22 +6, and 23-23 +6 gestational weeks, the xˉ± s of amniotic fluid GGT were (385.8±235.7), (331.8±219.4), (253.7±197.9), (226.7±166.4), and (155.3±96.8) U/L, and the weekly declines were 14.0%, 23.5%, 10.6%, and 31.5%, respectively; the M values were 311.0, 288.0, 199.0, 160.5, and 105.5 U/L, and the weekly declines were 7.4%, 30.9%, 19.3%, and 34.3%, respectively; the P1- P99 were 67.1-1 404.5, 63.2-1 189.1, 36.0-849.8, 44.0-787.3, and 32.0-375.6 U/L, respectively. lnGGT was negatively correlated with gestational age ( R 2=0.148, P<0.001). Conclusions:In normal pregnancies at 19-23 +6 gestational weeks, GGT levels in amniotic fluid decrease with gestational age. Therefore, gestational age should be considered when establishing the reference value for amniotic fluid GGT in normal pregnancies.

7.
Chinese Journal of Perinatal Medicine ; (12): 597-600, 2023.
Article in Chinese | WPRIM | ID: wpr-995145

ABSTRACT

This article reported the management and outcome of a pregnant woman diagnosed with massive subchorionic thrombohematoma at the umbilical cord insertion. The patient was found to have a large placental hematoma below the insertion site of the umbilical cord at 28 weeks of gestation by ultrasound and MRI. Fetal growth and the condition of the placenta were closely monitored thereafter. The patient was delivered with good maternal and infant outcomes through emergency cesarean section at 33 +5 weeks of gestation due to a significantly enlarged hematoma with abnormal umbilical blood flow.

8.
Chinese Journal of Perinatal Medicine ; (12): 243-245, 2023.
Article in Chinese | WPRIM | ID: wpr-995093

ABSTRACT

We report a fetus presented with complex cardiac malformations, pulmonary atresia with ventricular septal defect, detected by fetal echocardiography at 17 +4 weeks. The pregnancy was terminated after routine counseling and genetic tests were performed on umbilical cord of the induced fetus and peripheral blood samples of the parents. Whole-exome sequencing identified a novel maternally-inherited and likely pathogenic variation hemizygous nonsense variant, c.1651C>T (p.Gln551*) in the OTUD5 gene (NM_017602.3), which was confirmed by subsequent Sanger sequencing. The fetus was finally diagnosed as X-linked multiple congenital anomalies-neurodevelopmental syndrome.

9.
Chinese Journal of Perinatal Medicine ; (12): 225-229, 2023.
Article in Chinese | WPRIM | ID: wpr-995090

ABSTRACT

Objective:To investigate the prenatal ultrasound findings and clinical prognosis in fetal closed spina bifida without subcutaneous mass.Methods:This retrospective study included nine fetuses diagnosed with closed spina bifida without subcutaneous mass by prenatal ultrasound in Women's Hospital of Jiangnan University from October 2016 to February 2022. Descriptive analysis was used to summarize the ultrasonographic features, MRI findings, genetic testing results, pregnancy outcomes and follow-up data.Results:The diagnosis of fetal closed spina bifida without subcutaneous mass was confirmed in all cases by MRI, X-ray examination or ultrasound after termination or neonatal surgery. Four cases presenting with various degrees of sacral vertebra defects had caudal regression syndrome complicated by other malformations. Two cases had dermal sinus, presenting with subcutaneous hypoechoic sinus tract connecting to the spinal canal. Lipoma terminalis were found in two fetuses who presented with intraspinal hyperechoic mass. One fetus with diastematomyelia showed short linear strong echoes and double spinal cord echoes in the spinal canal with butterfly vertebrae. The location of the conus medullaris was lower in seven cases and normal in one fetus. The other one case had unclear position of the conus medullaris. No postoperative complications occurred in the two cases (one with dermal sinus and one with lipoma terminalis) receiving postnatal surgery and both infants grew and developed normally. Fetal death occurred in one case and six pregnancies were terminated.Conclusions:Closed spina bifida without subcutaneous mass typically has ultrasonographic features. Detection of spinal cord echoes in the spinal canal can improve the prenatal detection rate. Whether it is complicated with malformation affects its prognosis. Prenatal ultrasound diagnosis may provide information for prognosis consultation and postpartum treatment.

10.
Chinese Journal of Perinatal Medicine ; (12): 103-108, 2023.
Article in Chinese | WPRIM | ID: wpr-995071

ABSTRACT

Objective:To summarize the echocardiographic features and outcomes in fetuses with congenital ventricular outpouching (CVO).Methods:This retrospective study enrolled ten fetuses diagnosed with CVO by fetal echocardiography in the Affiliated Hospital of Qingdao University and Qingdao Women and Children's Hospital from January 2015 to April 2022. Clinical data were analyzed, including echocardiographic features, other intracardiac and extracardiac malformations, karyotypes, and pregnancy outcomes. Data were analyzed by descriptive statistics.Results:All ten cases were single, including eight ventricular diverticula and two ventricular aneurysms. Five cases had the anomaly in the left ventricular and the other five in the right. Five cases were isolated malformations, and the other five were complicated by other intra- or extracardiac malformations. A pathogenic copy number variation was detected in one case. Three pregnancies were terminated, and one was lost to follow-up. The other six fetuses were born alive and showed no obvious clinical symptoms or abnormalities in growth and development during 3-70 months of follow-up. The right ventricular diverticulum spontaneously disappeared in one case. One case with the right ventricular aneurysm was also diagnosed with noncompaction of the left ventricular myocardium by echocardiography at six months.Conclusions:Fetal CVO presents with typical echocardiographic features and can be diagnosed prenatally. Regular follow-up during pregnancy is recommended to observe the sizes of outpouchings and the occurrence of complications in fetuses with CVO after excluding other structural and chromosomal abnormalities to avoid unnecessary termination. Attention should also be paid to postnatal follow-up.

11.
Chinese Journal of Perinatal Medicine ; (12): 97-102, 2023.
Article in Chinese | WPRIM | ID: wpr-995070

ABSTRACT

Objective:To explore the prognosis of umbilical cord cysts in fetuses with structural abnormalities diagnosed by prenatal ultrasonography.Methods:This retrospective study involved 109 cases of umbilical cord cysts diagnosed by ultrasound at Beijing Obstetrics and Gynecology Hospital from January 2016 to December 2020. According to the ultrasound findings, these cases were divided into the isolated umbilical cord cyst, umbilical cord cyst with soft ultrasound markers, and umbilical cord cyst with fetal malformation groups. Chi-square was performed for statistical analysis to compare the prognosis. Results:(1) Among 109 cases of umbilical cord cysts, 55 cases (50.5%) were isolated, 20 (18.3%) were complicated by soft ultrasound markers, and 34 (31.2%) cases were complicated by fetal malformation. After excluding two cases of multiple cysts at different locations, the incidence of umbilical cord cysts at the placental end, free segment, and fetal terminal with other ultrasound abnormalities in the remaining 107 cases increased sequentially [27.5% (14/51), 10/17, and 76.9% (30/39), χ2=22.20, P<0.001]. The incidence of umbilical cord cysts with other ultrasound abnormalities at the fetal end was higher than at the placental end ( χ2=21.65, P<0.001). (2) A total of 60 fetal malformations were detected, dominated by fetal ventricular septal defect, omphalocele, giant bladder, fetal edema, and nuchal cystic hygroma, et al., mainly involving the cardiovascular system, urogenital system, anterior abdominal wall, and skeletal system. (3) Eighty-nine cases were followed up to the end of the pregnancy, and 21 (23.6%) of them had adverse outcomes. The prognoses of isolated umbilical cord cyst cases were all good. Two pregnancies (2/18) were terminated in the umbilical cord cyst with ultrasound soft markers group. In the group of umbilical cord cyst with fetal malformation, 19 pregnancies (19/26, 73.1%) had adverse outcomes, including pregnancy termination, intrauterine fetal demise, and perinatal death. Conclusions:The prognosis of isolated umbilical cord cysts is generally good. The umbilical cord cyst complicated by soft ultrasound marker and fetal malformation can have adverse outcomes, while conditions might be worse in those with fetal malformation. When an umbilical cord cyst is revealed, a systematical examination is recommended to identify whether it is combined with other ultrasound abnormalities.

12.
Chinese Journal of Perinatal Medicine ; (12): 89-96, 2023.
Article in Chinese | WPRIM | ID: wpr-995069

ABSTRACT

Objective:To investigate the significance of abnormal morphology of Sylvian fissure detected by fetal neurosonogram (NSG) in prenatal diagnosis of malformations of cortical development (MCD).Methods:This retrospective study involved fetuses with abnormal morphology of Sylvian fissure on prenatal NSG in Peking University First Hospital between January 2016 and December 2021. Clinical data including the basic information as well as the results of NSG, genetic examinations and MRI were collected. The diagnosis of MCD could be made when both brain morphological abnormalities and pathogenic/likely pathogenic genetic abnormalities were presented. The association between the abnormal morphology of Sylvian fissure and MCD was analyzed by descriptive analysis.Results:Thirteen participants who had complete genetic information were included in this study [defined as those who were found with pathogenic/likely pathogenic copy number variation (CNV) or those who further underwent whole-exome sequencing (WES) as no pathogenic/likely pathogenic CNV were detected]. Twelve fetuses (12/13) were eventually diagnosed with MCD. Pathogenic CNV were found in seven fetuses and pathogenic point mutations in five, involving six pathogenic genes and four genetic syndromes. Symmetric morphologic abnormality of Sylvian fissure was detected in 10 cases by prenatal NSG with shallow and broad shape in six and abnormal angle of Sylvian fissure in four. The other two fetuses showed asymmetric abnormal morphology of Sylvian fissure that was shallow and broad shape on one side and abnormal angle on the other. The imaging features of MCD present by prenatal NSG and were consistent with those of MRI.Conclusions:Abnormal morphology of Sylvian fissure detected by prenatal NSG is important in MCD diagnosis. Genetic examination are recommended to the fetuses with abnormal morphology of Sylvian fissure. For those requiring for genetic analysis, chromosomal microarray analysis together with WES might be an optimal choice.

13.
Chinese Journal of Perinatal Medicine ; (12): 48-52, 2023.
Article in Chinese | WPRIM | ID: wpr-995062

ABSTRACT

Objective:To summarize the features of stenosis or premature closure of fetal ductus arteriosus and to investigate the perinatal management strategies.Methods:Three cases diagnosed with stenosis or premature closure of fetal ductus arteriosus in Peking University First Hospital between January 2022 and June 2022 were retrospectively enrolled. Clinical features and perinatal management strategies were summarized.Results:Fetal cardiac abnormalities (right heart enlargement and tricuspid regurgitation) were detected in the three cases by routine prenatal ultrasound at the gestational weeks of 24, 30 and 23, respectively. Fetal echocardiography confirmed the diagnosis of stenosis or premature closure of fetal ductus arteriosus and no other structural anomalies were detected. All three pregnant women denied taking non-steroidal anti-inflammatory drugs. Case 1 and case 2 underwent emergency cesarean section due to suspected fetal cardiac dysfunction with a cardiovascular profile score of 6 and 5. The two neonates were transferred to the neonatal intensive care unit and discharged with good prognosis (normal cardiac function) on the 56th and 42nd day after birth. During a close monitoring, the stenosis of fetal ductus arteriosus improved in case 3 and a full-term neonate was delivered at 38 weeks by elective cesarean section because of a history of cesarean section.Conclusions:In the second and third trimesters of pregnancy, attention should be drawn to the fetal ductus arteriosus during ultrasound imaging, especially when right heart enlargement and tricuspid regurgitation were detected. For fetuses with suspected ductus arteriosus stenosis, a close monitor of the ductus arteriosus and the ultrasound findings indicating cardiac dysfunction is needed and the cardiovascular profile score should also be involved. Fetuses with premature closure of the ductus arteriosus should be delivered promptly and the postnatal cardiac outcomes are good.

14.
Chinese Journal of Ultrasonography ; (12): 220-226, 2023.
Article in Chinese | WPRIM | ID: wpr-992826

ABSTRACT

Objective:To investigate the reference range of the length and thickness of the fetal vomer-palate diameters at 11-13 + 6 weeks, and their role in the diagnosis of cleft lip and palate(CLP). Methods:From May 2020 to August 2021, 1 559 pregnant women who underwent ultrasound examination at 11-13 + 6 weeks in Guangdong Women and Children Hospital were selected, and the fetal vomer-palate in the median sagittal plane of the face was observed. The length and thickness diameters of the fetal were measured separately to establish the reference value range of normal fetal.The reference range was compared with the vomer-palate data of fetuses with confirmed CLP. Results:The 1 518 normal fetuses were divided into 11-13 + 6 weeks, 12-12 + 6 weeks and 13-13 + 6 weeks. The reference values of the long diameter of fetal vomer-palatine were 4.3-5.9 mm, 5.0-6.8 mm, 5.4-7.7 mm, and the reference values of the thick diameter were 2.0-2.9 mm, 2.2-3.4 mm, and 2.5-3.8 mm, respectively. The length and thickness of the fetal vomer-palatine were significantly positively correlated with the Crown-rump length ( rs=0.733, 0.634; all P<0.001). In the 1 559 fetals, 25 cases were diagnosed and confirmed with CLP, and the vomer-palate thickness diameters were smaller than the reference values in all cases, meanwhile, the vomer-palate length diameters of 22(88.0)% cases were smaller than the reference values. Conclusions:The reference range of fetal vomer-palate length and thickness at 11-13 + 6 weeks of gestation is valuable for the screening of fetal CLP.

15.
Chinese Journal of Ultrasonography ; (12): 211-219, 2023.
Article in Chinese | WPRIM | ID: wpr-992825

ABSTRACT

Objective:To assess the ultrasonographic features and potential diseases of fetal abnormal sylvian fissure(SF), and to explore the value of whole-genome sequencing (WGS) in prenatal detection.Methods:A total of 28 fetuses with a sonographic diagnosis of abnormal SF in Shenzhen Maternal and Child Health Hospital Affiliated to Southern Medical University between October 2018 and October 2020 were prospectively included. The fetal brain was evaluated by neuroultrasound and intrauterine MRI in detail. Amniotic fluid/cord blood obtained by amniocentesis or tissue samples from umbilical cord after birth were collected for WGS. Pregnancy outcomes and postnatal MRI were recorded, and neurodevelopment of live-born infants was followed up for more than 24 months after delivery.Results:During the study period, 28 fetuses with abnormal SF were identified, with a gestational age of 21.3-30.0 (24.8±2.0) weeks. Abnormal SF presented in MCD ( n=15, 53.6%), chromosomal anomalies ( n=3, 10.7%) or single-gene genetic syndromes ( n=3, 10.7%) with the affected fetuses showing developmental delay, hydrocephalus or leukomalacia ( n=4, 14.2%), corpus callosal agenesis with large interhemispheric cysts ( n=1, 3.6%), benign subarachnoid space enlargement with arachnoid cysts ( n=1, 3.6%), and multiple malformations ( n=1, 3.6%). Among the 15 cases with MCD, the most common pathology was lissencephaly/pachygyria, followed by schizencephaly, severe microcephaly, hemimegalencephaly with paraventricular heterotopia, and polymicrogyria. Abnormal SF presented bilaterally in 23 fetuses and unilaterally in 5. All cases were categorized into six types depending on SF morphology in the transthalamic section: no plateau-like or a small insula, linear type, irregular corrugated SF, Z-shaped, and cyst occupying type. In addition to abnormal SF, associated anomalies or mild variations were identified in all fetuses. There were 17 cases underwent intrauterine MRI, and 13 cases underwent postnatal MRI examination.And 25 pregnancies were terminated; 3 were born alive, and 2 had typical syndromic changes with poor neurodevelopmental prognosis. A related pathogenic genetic variant was detected in 57.1% (16/28) fetus, and the incidence of single nucleotide variants(SNVs) was 42.9% (12/28), among which de novo SNVs accounted for 91.7% (11/12). Conclusions:Fetal abnormal SF could be classified based on the ultrasonographic features of transthalamic section. Fetal abnormal SF may indicate MCD, some chromosomal abnormalities or single-gene genetic syndromes that may lead to poor neurodevelopmental outcomes, and may be affected by extra-cortical factors. It is suggested to carry out targeted prenatal genetic diagnosis for fetuses with abnormal SF.

16.
Chinese Journal of Ultrasonography ; (12): 205-210, 2023.
Article in Chinese | WPRIM | ID: wpr-992824

ABSTRACT

Objective:To screen the ultrasound markers of predictive value at 11-13 + 6 weeks for selective fetal growth restriction (sFGR) in monochorionic (MC) twins. Methods:A retrospective analysis of MC twin pregnancies collected prospectively from June 2020 to December 2021 at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, with standardized ultrasound examinations performed at 11-13 + 6 weeks.According to the expert consensus on the diagnostic criteria for sFGR, collected MC twin pregnancies were divided into sFGR group and control group (normal MC twin group). Maternal age, maternal history, mode of conception, the incidence of increased nuchal translucency (NT) thickness, NT discordance, crown-rump length (CRL) discordance, abnormal ductus venous Doppler waveform and abnormal umbilical cord insertion position were compared between the two groups, and those markers that differed between groups were further analyzed for screening early ultrasound markers that could be used to predict sFGR. Results:A total of 106 cases were included in the analysis, 30 cases in sFGR group and 76 cases in control group. ①Compared with control group, sFGR group had a higher incidence of low fetal birth weight (below the 10th and 3rd percentile) in both surviving cases, large birth weight discordance and a higher incidence of birth weight inconsistency (difference >25%) ( P<0.001). ②Compared with control group, the CRL discordance was larger in sFGR group [7.8% (3.8%, 9.2%) versus 3.8% (1.5%, 7.2%)] and the incidence of abnormal cord insertion position (33.3% versus 6.6%) was higher, the differences were statistically significant ( P=0.004 and <0.001, respectively), whereas the differences of NT discordance, incidence of increased NT and abnormal ductus venous Doppler waveform were not statistically significant (all P values >0.05). ③CRL discordance was a risk factor for sFGR ( OR=1.136, 95% CI=1.021-1.264), with an area under the ROC curve of 0.682 (95% CI=0.576-0.787) for predicting sFGR, the sensitivity and specificity were 0.567 and 0.737 at a cut-off value of 6.5%. Abnormal umbilical cord insertion position was a risk factor for sFGR ( OR=7.100, 95% CI=2.176-23.167) with a sensitivity of 0.333 and specificity of 0.934 for predicting sFGR. Conclusions:CRL discordance and abnormal cord insertion position are risk factors for the development of sFGR and are of value in predicting sFGR in MC twins.

17.
Chinese Journal of Ultrasonography ; (12): 198-204, 2023.
Article in Chinese | WPRIM | ID: wpr-992823

ABSTRACT

Objective:To investigate the value of ultrasonography in diagnosis of transposition of great arteries of the fetus at 11-13 + 6 weeks gestation. Methods:A prospective study was conducted on fetuses screened by ultrasound in the first trimester in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2015 and March 2022. Fetal heart structure was screened by three-section screening method. Fetuses with suspected transposition of the great arteries at 11-13 + 6 weeks gestation underwent followed-up ultrasound examination, chromosome and gene test results. The ultrasound characteristics and prognosis pregnancy outcomes were summarized. Results:Twenty-one cases of transposition of the great arteries were detected by ultrasonography, including complete transposition of great arteries (20 cases) and congenitaly corrected transposition of the great arteries (1 case). Two cases were miss diagnosed. Twenty-one cases showed parallel signs of two major arteries on grayscale outflow section at 11-13 + 6 weeks gestation. There were 6 cases with aneuploid ultrasonographic soft markers abnormality, 2 cases with extracardiac malformation. Chromosome and microarray analysis were performed in 13 cases. 4 cases with chromosomal abnormality. Four cases of chromosomal abnormalities were associated with ultrasonographic soft markers abnormality, and 1 case with extracardiac malformation.In the 23 cases, 20 cases were induced, 1 miscarried, and 2 delivered to term. Among the fetuses delivered at term, 1 case died before neonatal operation and 1 case survived. Conclusions:Standardized ultrasound scan at 11-13 + 6 weeks has high accuracy in diagnosis of transposition of the great arteries. And the incidence of chromosomal abnormality is high with ultrasonographic soft markers abnormality or extracardiac malformation.

18.
Rev. bras. ginecol. obstet ; 44(4): 435-441, Apr. 2022. tab, graf
Article in English | LILACS | ID: biblio-1387897

ABSTRACT

Abstract Objective Antenatal recognition of severe cases of congenital diaphragmatic hernia (CDH) by ultrasound (US) and magnetic resonance imaging (MRI) may aid decisions regarding the indication of fetal endoscopic tracheal occlusion. Methods An integrative review was performed. Searches in MEDLINE and EMBASE used terms related to CDH, diagnosis, MRI, and US. The inclusion criteria were reviews and guidelines approaching US and MRI markers of severity of CDH published in English in the past 10 years. Results The search retrieved 712 studies, out of which 17 publications were included. The US parameters were stomach and liver positions, lung-to-head ratio (LHR), observed/expected LHR (o/e LHR), and quantitative lung index. The MRI parameters were total fetal lung volume (TFLV), observed/expected TFLV, relative fetal or percent predicted lung volumes, liver intrathoracic ratio, and modified McGoon index. None of the parameters was reported to be superior to the others. Conclusion The most mentioned parameters were o/e LHR, LHR, liver position, o/e TFLV, and TFLV.


Resumo Objetivo A identificação pré-natal de casos graves de hérnia diafragmática congênita (HDC) por ultrassonografia (US) e ressonância magnética (RM) pode ajudar a decidir sobre a indicação de oclusão traqueal endoscópica fetal. Métodos Uma revisão integrativa foi realizada pesquisando nas bases MEDLINE e EMBASE comtermos relativos a HDC, diagnóstico, RM, e US. Os critérios de inclusão foram revisões e diretrizes abordando marcadores ultrassonográficos e de ressonância para a gravidade de HDC publicados em inglês nos últimos 10 anos. Resultados Foram obtidos 712 estudos, dos quais 17 foram incluídos. Os parâmetros de US foram posições do estômago e do fígado, relação pulmão-cabeça (LHR, na sigla em inglês), LHR observada/esperada (o/e LHR), e índice pulmonar quantitativo (QLI, na sigla em inglês). Os parâmetros de RM foram volume pulmonar fetal total (TFLV, na sigla em inglês), o/e TFLV, volume pulmonar fetal relativo e porcentagem predita, razão do fígado intratorácico (LiTR, na sigla em inglês) e índice de McGoon modificado. Nenhum dos parâmetros foi mencionado como superior aos demais. Conclusão Os parâmetros mais citados foram o/e LHR, LHR, posição do fígado, o/e TFLV, e TFLV.


Subject(s)
Humans , Female , Pregnancy , Reference Standards , Magnetic Resonance Imaging , Patient Selection , Hernias, Diaphragmatic, Congenital/diagnostic imaging
19.
Medisur ; 20(2)abr. 2022.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1405914

ABSTRACT

RESUMEN Fundamento Aunque la ecografía obstétrica es ampliamente utilizada en los niveles primario y secundario de salud para la detección de macrosomía fetal, la altura uterina también puede resultar útil, sobre todo, en contextos sanitarios desprovistos de equipamiento tecnológico. Objetivo determinar la correlación entre altura uterina versus ecografía obstétrica y el diagnóstico de macrosomía fetal. Métodos estudio descriptivo, correlacional, en madres no diabéticas de partos a término con neonatos macrosómicos, realizado en un hospital público del Valle de los ríos Apurímac, Ene y Mantaro, Perú. Las variables del estudio: edad materna, índice de masa corporal pregestacional, número de embarazos, edad gestacional al parto, y vía del parto. Se emplearon los coeficientes de correlación Rho de Spearman, y Pearson, ambos con intervalos de confianza al 95 % y error del 5 %. Resultados la estimación del peso fetal y la macrosomía se correlacionaron con la altura uterina (R Pearson 0,05). Entre las características maternas asociadas a neonatos macrosómicos, se hallaron la obesidad pregestacional (Rho = 0,009) y la condición de multigesta (Rho = 0,04). La estimación del peso fetal mayor a 4000 g tuvo mayor porcentaje de acierto (26,3 %) por ecografía obstétrica. Conclusión la ecografía obstétrica mostró mayor correlación que la altura uterina con el diagnóstico de macrosomía fetal.


ABSTRACT Background Although obstetric ultrasound is widely used at primary and secondary health levels for the detection of fetal macrosomia, uterine height can also be useful, especially in health contexts lacking technological equipment. Objective to determine the correlation between uterine height versus obstetric ultrasound and the diagnosis of fetal macrosomia. Methods descriptive, correlational study in non-diabetic mothers of full-term deliveries with macrosomic neonates, carried out in a public hospital in the Valley of the Apurímac, Ene and Mantaro rivers, Peru. The study variables: maternal age, pre-pregnancy body mass index, number of pregnancies, gestational age at delivery, and route of delivery. Spearman's Rho and Pearson's correlation coefficients were used, both with 95% confidence intervals and 5% error. Results Fetal weight estimation and macrosomia correlated with uterine height (Pearson's R 0.05). Among the maternal characteristics associated with macrosomic neonates, pregestational obesity (Rho = 0.009) and multigestational condition (Rho = 0.04) were found. The estimation of fetal weight greater than 4000 g had a higher percentage of success (26.3%) by obstetric ultrasound. Conclusion obstetric ultrasound showed a higher correlation than uterine height with the diagnosis of fetal macrosomia.

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Chinese Journal of Perinatal Medicine ; (12): 355-359, 2022.
Article in Chinese | WPRIM | ID: wpr-933927

ABSTRACT

Objective:To investigate the clinical outcomes and prognosis of children who were prenatally diagnosed with solid space-occupying abdominal lesions by ultrasound.Methods:This study retrospectively enrolled 30 children with solid space-occupying abdominal lesions that were indicated by prenatal ultrasound at Children's Hospital of Fudan University from March 2015 to March 2021. Prenatal ultrasound findings, postnatal treatment, clinical outcomes, and prognosis were analyzed.Results:These subjects included 18 male and 12 female infants, with the median gestational age at the first sonographic diagnosis of 36 weeks (28 to 39 weeks). The intra-abdominal solid masses were postnatally confirmed to be located in liver, retroperitoneum, and gastrointestinal tract, which were hepatic hemangioma ( n=14), hepatoblastoma ( n=2), neuroblastoma ( n=6), abdominal teratoma ( n=4), adrenal hematoma ( n=1), adrenocortical adenoma ( n=1), hyperplasia of renal capillary ( n=1), and gastrointestinal teratoma ( n=1). The accuracy of prenatal ultrasound in detecting the location of masses was 73% (22/30) and which was 13/16 in detecting masses from liver and 9/14 in that outside the liver. Among the 30 cases, 73% (22/30) were benign tumors, and 27% (8/30) were malignant tumors (hepatoblastoma in two cases and neuroblastoma in six cases). Among 15 patients with benign tumors (hepatic hemangioma and adrenal hematoma) who received close follow-up or drug therapy, tumor/lesion regression occurred in 13 cases and the other two were observed with stable hepatic hemangiomas. Fourteen patients, including six with neuroblastoma, two with hepatoblastoma, five with teratoma, one with adrenocortical adenoma, and one with hyperplasia of renal capillary, had good prognosis after primary tumor resection or combined with postoperative chemotherapy. One hepatoblastoma case died after withdrawing treatment. The overall survival rate was 97% (29/30) with a median follow-up time of 24 months (4 to 60 months). Conclusions:Prenatal ultrasound has high accuracy in identifying the anatomic region of fetal solid space-occupying abdominal lesions. With close postnatal follow-up and proper treatment, most of the affected fetuses will have a good outcome and prognosis.

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