Prenatal diagnosis of abnormal morphology of Sylvian fissure and malformations of cortical development / 中华围产医学杂志

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.

Predictive value of transvaginal ultrasound measurement of cervical length in first and second trimester on spontaneous preterm birth in singleton pregnancies / 中华围产医学杂志

Objective:To explore the predictive value of transvaginal ultrasound measurement of cervical length (CL) in the first and second trimester on spontaneous preterm birth in singleton pregnant women.Methods:This study retrospectively recruited 2 254 singleton pregnancies without severe comorbidities at Peking University First Hospital from January 2019 to June 2019. CL was measured for all subjects using transvaginal ultrasound in the first (11-13 +6 weeks) and second trimester (21-23 +6 weeks). Differences in CL between women with preterm (preterm group) and full-term delivery (full-term group) as well as the CL during the first and second trimester were compared. The independent risk factors for preterm birth and the predictive value of CL in the first and second trimester for spontaneous preterm birth were also explored. Fisher's exact test, t-test, χ2 test, and logistic regression analysis, etc, were adopted for statistical analysis. Results:(1) For the 2 254 subjects, CL measured in the first trimester and second trimester were (36.1±4.2) mm (22.4-52.6 mm) and (36.9±5.3) mm (2.9-59.7 mm), respectively. The incidence of short cervix in the first trimester and second trimester were 0.31% (7/2 254) and 1.46% (33/2 254), respectively. When CL was ≤25.0 mm ( OR=43.92, 95% CI:6.83-282.49) or >25.0-≤30.3 mm ( OR=6.59, 95% CI:1.97-22.0) in the first trimester, the risk of short cervix increased in the second trimester (both P<0.05). (2) The total incidence of preterm delivery was 3.06% (69/2 254). CL and the incidence of short cervix did not differ significantly in the first trimester between the preterm and full-term group [(35.2±4.5) and (36.1±4.1) mm, t=－1.78, P=0.076; 1.5% (1/69) and 0.3% (6/2 185), χ 2=2.98, P=0.084]. Compared with the full-term group, CL was shorter and the incidence of short cervix was higher in the second trimester in the preterm group [(33.6±6.7) vs (37.0±5.2) mm, t=－5.12;8.7% (6/69) vs 1.2% (27/2 185), χ 2=25.80, P<0.001]. (3) Multivariate regression analysis showed that age ≥35 years ( OR=2.05, 95% CI:1.22-3.46), history of spontaneous preterm birth ( OR=25.25, 95% CI:5.01-127.28), conception assisted by reproductive technology ( OR=10.39, 95% CI:2.39-50.33), and short cervix during the second trimester were independent risk factors for premature delivery. (4) There was no significant difference in the risk of preterm delivery when comparing to those with CL≤25.0 mm, >25.0-≤30.3 mm, >30.3-≤33.0 mm, >33.0-≤35.7 mm, >35.7-≤38.7 mm women with CL>38.7 mm during the first trimester (all P>0.05). The risk of premature delivery was relatively increased for those with CL≤25.0 mm,>25.0-≤29.5 mm, >29.5-≤33.6 mm, >33.6~≤36.8 mm, >36.8~≤40.1 mm during the second trimester compared to those with CL>40.1 mm [ OR (95% CI):17.64 (4.99-62.32), 6.89 (2.11-22.55), 3.58 (1.34-9.59), 4.04 (1.58-10.32), 3.34 (1.28-8.67), respectively , all P<0.05]. (5) When CL≤25.0 mm and ≤29.5 mm in the second trimester were used as the cut-off value, the prediction of preterm delivery was with a sensitivity of 8.70% and 17.39%, specificity of 98.80% and 95.29%, positive predictive value of 18.20% and 10.43%, negative predictive value of 97.16% and 97.34%, and the accuracy rate of 96.01% and 92.90%, respectively. Conclusions:There were no significant differences in CL and the incidence of short cervix during the first trimester among women with preterm or full-term delivery. CL in the first trimester is not an independent risk factor for preterm birth, but the risk of short cervix in the second trimester is increased when CL≤30.3 mm in the first trimester. The shorter the cervix during the second trimester, the greater the risk of preterm birth.

Postnatally confirmed COL4A1 mutation in a fetus with recurrent intraparenchymal hemorrhage and cystic leukomalacia / 中华围产医学杂志

We report a fetus with recurrent intraparenchymal hemorrhage and cystic leukomalacia during pregnancy who was postnatally detected with a de novo mutation in the COL4A1 gene by genetic testing of umbilical cord blood. Multiple fresh hemorrhagic foci were detected in the fetal brain parenchyma and cerebellar hemisphere by ultrasound at 25 gestational weeks. Regular re-examination of the nervous system's ultrasound and magnetic resonance imaging (MRI) indicated recurrent multiple intraparenchymal hemorrhages followed by cystic leukomalacia. However, karyotyping and chromosomal microarray analysis of amniotic fluid showed no abnormality. The newborn was born by cesarean section at 37 +3 gestational weeks with an Apgar score of 10 at 1 and 5 min. Repeated apnea occurred after birth. MRI detected new intraparenchymal hemorrhage and cystic leukomalacia on the six-day of life. The infant's limb muscle tone remained low on the 90-day follow-up. The patient was lost to follow up. Whole-exome sequencing of the cord blood identified a de novo heterozygous mutation- c.4738G>A in the COL4A1 gene (NM_001845.4; p.G1580S) neither parent carried. It suggests that the genetic test of the COL4A1 mutation should be considered for fetuses with intracranial hemorrhage in the prenatal diagnosis, especially those with recurrent fetal intraparenchymal hemorrhage followed by cystic leukomalacia. Genetic tests could help analyze the fetal prognosis, and guide the delivery mode.

Prediction and analysis of adverse pregnancy outcomes in pregnant women with cesarean scar diverticulum / 中华妇产科杂志

Objective:To investigate the pregnancy outcomes of pregnant women with cesarean scar diverticulum (CSD) and to find the relevant factors that predict the occurrence of adverse pregnancy outcomes.Methods:From January 2015 to March 2019, 501 singleton pregnant women with a history of cesarean section who underwent regular prenatal examination in early pregnancy and eventually delivered in Peking University First Hospital were prospectively collected. According to the presence or absence of CSD in the first trimester of pregnancy, the pregnant women were divided into the CSD group ( n=127, 25.3%) and the non-CSD group ( n=374, 74.7%). According to the mode of delivery and the classification of the lower uterine segment seen during cesarean section, the CSD group was further divided into the non-rupture group (including spontaneous delivery and lower uterine segment grade Ⅰ; n=108, 85.0%) and rupture group (including lower uterine segment grade Ⅱ-Ⅳ; n=19, 15.0%). The general clinical data, pregnancy outcomes, diverticulum-related indexes [including length, width, depth (D), average diameter, volume, and residual myometrial thickness (RMT)] were compared. The predictive values of D/adjacent myometrial thickness≥50%, RMT≤2.2 mm and D/RMT>1.3 for uterine rupture in CSD pregnant women were verified. Results:(1) Comparison between CSD group and non-CSD group: the lower uterine segment thickness in the third trimester of pregnancy in the CSD group was lower than that in the non-CSD group [(1.2±0.5) vs (1.4±0.6) mm, respectively], and the incidence of uterine rupture was higher than that in the non-CSD group [15.0% (19/127) vs 8.0% (30/374), respectively], and the differences were statistically significant (both P<0.05). There were no significant differences in other clinical data and pregnancy outcomes between the two groups (all P>0.05). (2) Comparison of rupture group and non-rupture group: the lower uterine segment thickness in the third trimester of pregnancy in rupture group [(0.6±0.5) mm] was lower than that in non-rupture group [(1.2±0.6) mm], and the difference was statistically significant ( t=3.486, P=0.001). There were no significant differences in diverticulum-related indexes between the two groups (all P>0.05). (3) Relationship between high risk predictors of uterine rupture and actual uterine rupture: the sensitivity of D/adjacent muscle thickness ≥50%, RMT≤2.2 mm and D/RMT>1.3 in predicting the high risk of uterine rupture were 94.7%, 57.9% and 73.6%, the specificity were 12.0%, 40.7% and 24.1%, the positive predictive value were 15.9%, 14.7%, 14.6%, and the negative predictive value were 92.8%, 84.6%, 83.9%, respectively. Conclusions:The risk of uterine rupture in pregnant women with CSD is higher than that in those without CSD. There is no significant correlation between CSD related indexes and uterine rupture in the first trimester. Monitoring the lower uterine segment thickness in the third trimester might be helpful to predict the occurrence of adverse pregnancy outcomes.

Outcomes and prognosis of fetal intraventricular hemorrhage / 中华围产医学杂志

Objective:To investigate the neonatal outcomes and prognosis of fetuses who were prenatally diagnosed with intraventricular hemorrhage(IVH) to provide evidence for clinical consultation and management.Methods:Clinical data of fetal IVH cases ( n=89) diagnosed by fetal neurosonogram (NSG) in Peking University First Hospital from January 2012 to April 2020 were retrospectively collected, and neonatal outcomes were analyzed, involving fetuses with different grades of IVH and coexisting abnormalities. These patients were followed up for more than three months after birth. Two child development screening systems, Ages & Stages Questionnaires (Third Edition) (ASQ-3) and Ages & Stages Questionnaires: Social-Emotional (ASQ-SE), were used to assess the development of the patients from several aspects including physical growth, oral communication, motor ability and social emotions. Descriptive statistical analysis was used in this study. Results:(1) A total of 89 fetuses were enrolled and 66.3% (59/89) of them underwent fetal cranial MRI examination after ultrasound diagnosis. Among these 59 cases, 32(54.2%) had the same results with fetal NSG; 20(33.9%) with the diagnosis of remote ventricular cystic hemorrhage by fetal NSG, but misdiagnosed by MRI, were all confirmed by neonatal craniocerebral ultrasound; 7(11.9%) were lost to follow-up or terminated. In addition to IVH that was consistent with the ultrasound diagnosis, MRI also found three cases of cortical malformation, three cases of subdural hemorrhage and two cases of cerebral parenchymal hemorrhage. (2) Among the 89 cases, 37 (41.6%) underwent neonatal craniocerebral ultrasound examination after birth showing small amount of remote IVH, which was consistent with previous fetal NSG diagnosis. (3) There were 38 cases complicated by lateral ventricular widening (three lost to follow-up, 18 were terminated , one died in uterus, 15 with good and one with poor outcome), 10 cases by severe IVH sequelae (one lost to follow-up and nine were terminated) and 10 by craniocerebral malformation (one lost to follow-up, eight were terminated and one with poor neonatal prognosis). Two cases with extracranial malformation (ureteropelvic junction obstruction) were healthy after birth. (4) There were 29, 30, 16 and 14 cases of gradeⅠ,Ⅱ,Ⅲ andⅣ of fetal IVH, respectively. Among all cases, 12 were lost to follow-up; three died in uterus (all with gradeⅣ IVH); 31 were terminated and 43 were born and followed up. During the follow-up of the 43 cases, two (one grade Ⅰ case with corpus callosum dysplasia and one grade Ⅲ case with fetal cytomegalovirus infection) had poor prognosis, while the other 41 (one gradeⅢ, 17 gradeⅡ and 23 gradeⅠcases) showed no severe abnormalities.Conclusions:Fetal NSG is the first choice in screening fetal IVH and MRI can be a valuable aid. The neonatal prognosis may be associated with the grade of hemorrhage and coexisting abnormalities. Fetuses with isolated grade Ⅰ or Ⅱ IVH usually have a relatively good prognosis.

Prenatal diagnosis of fetal suprasellar arachnoid cysts: clinical analysis of five cases / 中华围产医学杂志

Objective:To analyze the characteristics and prognosis of fetal suprasellar arachnoid cysts.Methods:The clinical data of five fetuses with suprasellar arachnoid cysts diagnosed prenatally by ultrasound at Peking University First Hospital from March 2015 to July 2019 were analyzed retrospectively. The prenatal diagnosis, progression, and management strategies of this disease were described together with fetal MRI and follow-up data.Results:Five cases of suprasellar arachnoid cysts were diagnosed prenatally by ultrasound, including one isolated and stable case and four with enlarged lesions complicated by ventriculomegaly during pregnancy. There were four male and one female fetus. One baby was born vaginally, three through cesarean section, and the rest one was terminated in another hospital. Two babies were operated at two and six months after birth, respectively, and both recovered. And the other two babies were still under regular follow-up. Fortunately, all four children grew and developed well at the age between 15-66 months.Conclusions:For some fetuses with suprasellar arachnoid cysts, postnatal surgery may not be required. While those who have undergone surgery have a good prognosis due to early intervention.

Establishment of the Reliability and validity of the early symptom measurement of post-stroke depression-short form / 中国实用护理杂志

Objective:To test the reliability and validity of the Early Symptom Measurement of Post-Stroke Depression-Short Form (ESMPSD-SF).Methods:Totally 325 patients with early stage stroke were investigated by the demographic questionnaire and the Early Symptom Measurement of Post-Stroke Depression-Short Form. Exploratory factors, confirmatory factor analysis and reliability analysis were used to establish the reliability and validity of the scale.Results:Exploratory factor analysis extracted four factors: "low", "guilt", "emotional" and "wakefulness", which explained 74.228% of the total variation of depression. All the model fit indexes of confirmatory factor analysis and the standardized factor loadings of each item were up to standard, and the variances explained by each item were within acceptable range. The internal consistency reliability of the total scale was 0.866, the internal consistency of the domains ranged from 0.649 to 0.882, the corrected item-total correlation coefficient ranged from 0.401 to 0.676, and the item-subscale correlation coefficient ranged from 0.647 to 0.923.Conclusions:ESMPSD-SF demonstrated good reliability and validity and can be used to screen depressive symptoms in patients with early stage stroke.

Indications of percutaneous umbilical cord blood sampling in prenatal diagnosis / 中华围产医学杂志

Objective To investigate the tendency and safety of percutaneous umbilical cord blood sampling (PUBS) in prenatal screening and diagnosis,and the possibilities of avoiding unnecessary PUBS.Methods This was a retrospective study of pregnant women who underwent PUBS for prenatal diagnosis in Peking University First Hospital from January 2015 to December 2017.Clinical indications,timing of PUBS,further investigations (chromosome karyotype,molecular genetics and pathogen testing),results,and pregnancy outcomes were collected and analyzed.One-way analysis of variance (ANOVA),Chi-square test for linear trend,Fisher's exact probability test/Cochran-Armitage analysis and Cruskal-Wallis rank-sum test were used for statistical analysis.Results (1)A total of 412 singleton pregnancies underwent PUBS at 20-38 gestational weeks during the study period,and 379 (92.2％) of them received PUBS before 34 gestational weeks.The positive test results accounted for 10.4％ (43/412).There were six (1.5％) miscarriages after PUBS.In vitro cell culture failure occurred in two cases,one in 2015 and the other in 2016.(2) Among the 412 cases,304 (73.8％) had only one indication.Fourteen cases could be identified as high risk in the first trimester,such as advanced maternal age (AMA,＞35 years),pregnant history with chromosomal abnormal fetus and one of the couples carrying abnormal genes.There were four,zero and one case receiving PUBS only for AMA in 2015,2016 and 2017,respectively.Indications,including high risk suggested by serum screening and fetal abnormality found by ultrasound were identified in 290 cases (70.4％) in the second or third trimester.Other than AMA,there were no statistically significant differences in single indicators.The proportion PUBS with double indicators increased from 2015 to 2017 but without significant difference.AMA and positive serum screening as indicators of aneuploidy screening accounted for 7.6％ (8/105) in double-indicator group and 1.9％ (8/412) in all.(3) There were 363 PUBS (88.1％) performed for ultrasound abnormalities.Among them,76.9％ (280/363) only had abnormal ultrasound findings,and the percentage was decreased year by year.The other 83 cases (80 with double indicators and three with triple indicators) also presented with other indicators,including AMA,adverse pregnancy history and positive serum screening.The proportion of PUBS performed with the presence of multiple indicators tended to increase recently,but no statistically significant difference was found.All the 18 cases with abnormality diagnosed by molecular genetic testing had abnormal ultrasound findings.Conclusions Although PUBS's complications are rare,it carries some risks.The constitution of single indication has been declined every year.With the improvement of prenatal screening system and application of molecular karyotyping,the necessity of invasive prenatal diagnosis with PUBS is greatly reduced.An improvement in reasonable and standardized application of PUBS needs to be achieved.

Indications of percutaneous umbilical cord blood sampling in prenatal diagnosis / 中华围产医学杂志

Objective@#To investigate the tendency and safety of percutaneous umbilical cord blood sampling (PUBS) in prenatal screening and diagnosis, and the possibilities of avoiding unnecessary PUBS.@*Methods@#This was a retrospective study of pregnant women who underwent PUBS for prenatal diagnosis in Peking University First Hospital from January 2015 to December 2017. Clinical indications, timing of PUBS, further investigations (chromosome karyotype, molecular genetics and pathogen testing), results, and pregnancy outcomes were collected and analyzed. One-way analysis of variance (ANOVA), Chi-square test for linear trend, Fisher's exact probability test/Cochran-Armitage analysis and Cruskal-Wallis rank-sum test were used for statistical analysis.@*Results@#(1) A total of 412 singleton pregnancies underwent PUBS at 20-38 gestational weeks during the study period, and 379 (92.2%) of them received PUBS before 34 gestational weeks. The positive test results accounted for 10.4% (43/412). There were six (1.5%) miscarriages after PUBS. In vitro cell culture failure occurred in two cases, one in 2015 and the other in 2016. (2) Among the 412 cases, 304 (73.8%) had only one indication. Fourteen cases could be identified as high risk in the first trimester, such as advanced maternal age (AMA, >35 years), pregnant history with chromosomal abnormal fetus and one of the couples carrying abnormal genes. There were four, zero and one case receiving PUBS only for AMA in 2015, 2016 and 2017, respectively. Indications, including high risk suggested by serum screening and fetal abnormality found by ultrasound were identified in 290 cases (70.4%) in the second or third trimester. Other than AMA, there were no statistically significant differences in single indicators. The proportion PUBS with double indicators increased from 2015 to 2017 but without significant difference. AMA and positive serum screening as indicators of aneuploidy screening accounted for 7.6% (8/105) in double-indicator group and 1.9% (8/412) in all. (3) There were 363 PUBS (88.1%) performed for ultrasound abnormalities. Among them, 76.9% (280/363) only had abnormal ultrasound findings, and the percentage was decreased year by year. The other 83 cases (80 with double indicators and three with triple indicators) also presented with other indicators, including AMA, adverse pregnancy history and positive serum screening. The proportion of PUBS performed with the presence of multiple indicators tended to increase recently, but no statistically significant difference was found. All the 18 cases with abnormality diagnosed by molecular genetic testing had abnormal ultrasound findings.@*Conclusions@#Although PUBS's complications are rare, it carries some risks. The constitution of single indication has been declined every year. With the improvement of prenatal screening system and application of molecular karyotyping, the necessity of invasive prenatal diagnosis with PUBS is greatly reduced. An improvement in reasonable and standardized application of PUBS needs to be achieved.

Diagnosis and prognosis of fetal periventricular pseudocysts / 中华围产医学杂志

Objective@#To investigate the diagnosis, clinical outcomes and factors influencing the prognosis of fetal periventricular pseudocysts (PVPC).@*Methods@#A retrospective analysis was performed on the results of fetal neurosonography (NSG), cranial magnetic resonance imaging (MRI), chromosome karyotype and neonatal cranial ultrasound of 76 PVPC cases detected by prenatal ultrasound in Peking University First Hospital from May 2014 to October 2018. The accuracy of NSG and cranial MRI in PVPC diagnosis was assessed. Prognosis of PVPC and the influencing factors were evaluated. Statistical analysis was performed using Chi-square test or Fisher's exact test.@*Results@#(1) This study involved 51 cases (67.1%) of isolated PVPC and 25 cases (32.9%) of non-isolated PVPC. Among the 25 non-isolated PVPC cases, 15 were complicated by one abnormality and 10 by multiple abnormalities. There were 20 cases with intracranial abnormalities, two with extracranial abnormalities, and three with both intracranial and extracranial abnormalities. (2) Eight out of the 76 pregnancies (10.5%) were terminated and among them, two were isolated PVPC cases, five complicated by determined abnormalities (one case of PVPC complicated with pachygyria and bilateral mild fetal ventriculomegaly, one case of PVPC complicated with pachygyria or agyria and agenesis of corpus callosum, one case of PVPC complicated with arachnoid cyst and vermis dysplasia, one case of PVPC complicated with cortical dysplasia, one case of PVPC complicated with intestinal dilatation) and one by abnormalities of undertermined prognosis (PVPC combined with mild fetal ventriculomegaly and polyhydramnios). A total of 61 neonates (80.3%, 61/76) were born alive and followed up. Seven cases (9.2%, 7/76) were lost to follow-up. (3) As of February 2019, among the 61 followed-up infants, 44 with isolated PVPC and 15 with unclear abnormalities developed well. The other two with determined intracranial abnormalities were diagnosed as having cystic lesions in the brain parenchyma. One of them died of respiratory failure two days after birth and the other suffered from chromosomal disease (13.23 Mb deletion in region q24.3q31.2 of chromosome 2) with mental retardation and delayed growth and development. (4) A total of 44 (57.9%, 44/76) neonates received cranial ultrasound after birth and confirmed the diagnosis of PVPC, among which 11 (25.0%, 11/44) were missed or misdiagnosed in prenatal MRI.@*Conclusions@#PVPC may have many comorbidities, particularly intracranial abnormalities, which are closely related to the prognosis. A thorough prenatal ultrasound examination is necessary for fetal PVPC, especially NSG. Isolated PVPC usually has a good outcome. However, PVPC complicated by cystic lesions in the brain parenchyma may be associated with chromosomal abnormalities, hence fetal chromosome examination is required.

Diagnosis and prognosis of fetal periventricular pseudocysts / 中华围产医学杂志

Objective To investigate the diagnosis, clinical outcomes and factors influencing the prognosis of fetal periventricular pseudocysts (PVPC). Methods A retrospective analysis was performed on the results of fetal neurosonography (NSG), cranial magnetic resonance imaging (MRI), chromosome karyotype and neonatal cranial ultrasound of 76 PVPC cases detected by prenatal ultrasound in Peking University First Hospital from May 2014 to October 2018. The accuracy of NSG and cranial MRI in PVPC diagnosis was assessed. Prognosis of PVPC and the influencing factors were evaluated. Statistical analysis was performed using Chi-square test or Fisher's exact test. Results (1) This study involved 51 cases (67.1%) of isolated PVPC and 25 cases (32.9%) of non-isolated PVPC. Among the 25 non-isolated PVPC cases, 15 were complicated by one abnormality and 10 by multiple abnormalities. There were 20 cases with intracranial abnormalities, two with extracranial abnormalities, and three with both intracranial and extracranial abnormalities. (2) Eight the 76 pregnancies (10.5%) were terminated and among them, two were isolated PVPC cases, five complicated by determined abnormalities (one case of PVPC complicated with pachygyria and bilateral mild fetal ventriculomegaly, one case of PVPC complicated with pachygyria or agyria and agenesis of corpus callosum, one case of PVPC complicated with arachnoid cyst and vermis dysplasia, one case of PVPC complicated with cortical dysplasia, one case of PVPC complicated with intestinal dilatation) and one by abnormalities of undertermined prognosis (PVPC combined with mild fetal ventriculomegaly and polyhydramnios). A total of 61 neonates (80.3%, 61/76) were born alive and followed up. Seven cases (9.2%, 7/76) were lost to follow-up. (3) As of February 2019, among the 61 followed-up infants, 44 with isolated PVPC and 15 with unclear abnormalities developed well. The other two with determined intracranial abnormalities were diagnosed as having cystic lesions in the brain parenchyma. One of them died of respiratory failure two days after birth and the other suffered from chromosomal disease (13.23 Mb deletion in region q24.3q31.2 of chromosome 2) with mental retardation and delayed growth and development. (4) A total of 44 (57.9%, 44/76) neonates received cranial ultrasound after birth and confirmed the diagnosis of PVPC, among which 11 (25.0%, 11/44) were missed or misdiagnosed in prenatal MRI. Conclusions PVPC may have many comorbidities, particularly intracranial abnormalities, which are closely related to the prognosis. A thorough prenatal ultrasound examination is necessary for fetal PVPC, especially NSG. Isolated PVPC usually has a good outcome. However, PVPC complicated by cystic lesions in the brain parenchyma may be associated with chromosomal abnormalities, hence fetal chromosome examination is required.

Correlation between uterine scar condition and uterine rupture for pregnancy women after previous cesarean section / 中华妇产科杂志

Objective To investigate the relationship between the previous cesarean scar thickness, previous cesarean scar defect and the occurrence of uterine rupture for pregnancy women after previous cesarean section and to predict the occurrence of uterine rupture in the third trimester for pregnancy women after previous cesarean section by analyzing the lower uterine segment (LUS) situation or quantitatively measure LUS myometrium thickness. Methods A total of 154 pregnant women who have a prior cesarean from January 2015 to March 2016 were selected, all of them regularly did the prenatal examination in the pregnancy period and finally gave birth in hospital. By the transvaginal sonograph, the LUS myometrium thickness (transverse and longitudinal thickness) and the size of the previous cesarean scar defect were measured in the first trimester, the LUS myometrium thickness (longitudinal thickness) and qualitatively analysis LUS condition were measured in the third trimester. They were divided into two groups according to the pregnancy outcome: uterine rupture group (found in the cesarean operation or during the pregnancy) and without uterine rupture group (including the vaginal delivery women and those without uterine rupture in the cesarean operation period). The sensitivity and specificity of LUS myometrium thickness in the first trimester and the qualitative analysis LUS situation, the quantitative measurement of LUS myometrium thickness in the third trimester were compared in the prediction of occurrence of uterine rupture (dehiscence or complete rupture). Results The group without uterine rupture included 134 women (6 vaginal delivery and 128 cesarean delivery), and the group with uterine rupture included 20 women (all of them cesarean delivery). The LUS myometrium thickness in the third trimester in the group without uterine rupture was (1.6±0.5) mm, and was (1.1±0.7) mm in the uterine rupture group (P=0.004). There were no significant difference between two groups in the mean value of age, height, weight, the interdelivery interval, the LUS myometrium thickness (transverse and longitudinal thickness) in the first trimester. Qualitative analysis of LUS condition had higher specificity (99%), higher positive predictive value (92%), higher negative predictive value (94%) and slightly lower sensitivity (60%) than quantitative measure of LUS myometrium thickness in predicting uterine rupture. Conclusions Measurement of the LUS myometrium thickness in the first trimester is helpful for predicting the occurrence of uterine rupture, so it is not necessary to terminate the pregnancy because of the thin LUS or the little prior cesarean scar defect in the first trimester. However it should be paid close attention to the LUS situation during the whole gestation. Qualitatively analyzing LUS situation is more meaningful than quantitatively measuring LUS myometrium thickness in predicting the uterine rupture in the third trimester.

Clinical significance and prognosis of asymmetric ventricles in fetuses / 中华围产医学杂志

Objective@#To investigate the clinical significance and prognosis of ultrasound-identified asymmetric ventricles in fetuses, and to provide evidences for clinical consultation and management. @*Methods@#From January 2014 to May 2017, 142 singleton fetuses were enrolled who were diagnosed with asymmetric ventricles through prenatal ultrasound in Peking University First Hospital and successfully followed up after birth. Asymmetric ventricles included simple lateral ventricular asymmetry [lateral ventricular widths were normal (<10 mm) but with a difference of ≥2 mm between the two lateral ventricles and unilateral ventricular widening (only one lateral ventricle was ≥10 mm in width and the other was <10 mm). All 142 fetuses were divided into two groups according to whether they had other abnormalities (including abnormal ultrasound soft markers and structural abnormalities) or not. Clinical and imaging data of them were analyzed retrospectively. They were followed up for at least six months after birth. Neurological development regarding language, behavior and motor was evaluated using Denver Developmental Screening Test. @*Results@#There were 109 cases without other abnormalities and among them, 38 (35%) spontaneously recovered in utero, two (2%) became worse, and 69 (63%) remained unchanged. Thirty-one of the 109 cases received fetal cranial MRI and abnormal brain development was found in only one case. No abnormal findings were reported in karyotyping in 38 cases and viral detection in 31 cases. One hundred and five fetuses were successfully delivered and four were induced including two cases for wider in unilateral lateral ventricle, one of continued widening, and one with abnormal brain development suggested by fetal cranial MRI. Among the 33 cases with other abnormalities, two were spontaneously recovered in utero, one became worse , 15 unchanged and 15 were induced. Of the 20 cases underwent chromosomal examination, one unbalanced chromosome translocation was identified. Twelve fetuses underwent cranial MRI among which two were found abnormal (periventricular cyst and brain asymmetry). Sixteen cases were aborted including 15 with major abnormalities (major deformity or absence of extremities) and one with mild abnormality (abnormal ultrasound soft markers with progression in lateral ventricular width ≥15 mm in in-utero follow-up). Seventeen cases were born including 16 with mild abnormalities and one with severe abnormality (unilateral renal cystic disease without chromosome abnormality). No significant developmental abnormality in language, behavior and motor was reported during follow-up. @*Conclusions@#Asymmetric ventricles have no significant impact on fetal growth and postnatal development. The prognosis of asymmetric ventricles mainly depends on the width of lateral ventricles in utero and concomitant abnormalities. Therefore, close attention should be paid on monitoring and follow-up.

Correlation between caspase-3/6 levels and EBV-induced liver injury in children / 中华实验和临床病毒学杂志

Objective@#To investigate the relationship between the EBV-induced liver injury and caspase-3/6 in children.@*Methods@#Data of 249 patients seen from July 2016 to June 2017 who got infection with EBV were collected in second affiliated hospital of Wenzhou Medical University and the patients were divided into two groups; 168 patients who were diagnosed with hepatitis were selected for abnormal liver function group, laboratory tests were performed in acute phase and convalescent phase. Meanwhile the 81 patients, whose liver function were normal were selected for normal liver function group. Two ml of blood plasma was collected from each patient from both groups at the beginning and after a week’s treatment of the abnormal liver function group. The patients were aged from 1 to 14 years. The abnormal liver function group was further divided into four groups: young children (1-3 years old), preschool children (4-6 years old), school children (7-10 years old), teenagers (10-14 years old). Firstly, we recorded their alanine aminotransferase (ALT), aspartate aminotransferase (AST), total bilirubin (TBIL), gamma glutamyl transpeptidase (GGT) and direct bilirubin (DBIL), then by the use of enzyme linked immunosorbent assay (ELISA) we measured the protein level of caspase-3 and caspase-6.@*Results@#In the group of abnormal liver function group, in the acute phase of the teenagers the level of ALT, caspase-3 and caspase-6 are improved significantly(927.2±82.5 vs. 158.5±41.4, P<0.001, 169.8±52.8 vs. 91.5±10.1, P<0.001, P<0.05, 82.2± 2.6, P<0.001, 965.8±31.5, P<0.001, 184.8±14.3, P<0.001), while the AST, TBLL, GGT and DBLL had no significant difference.@*Conclusions@#In the process of EBV-induced liver injury, there was a linear correlation between the increase of caspase-3/6 and ALT in the acute stage, suggesting that EBV-induced liver injury is closely related to caspase-3/6.

Fetal neurosonogram / 中华围产医学杂志

Prenatal diagnosis and consultation of fetal central nervous system diseases are the most challenging part in the field of prenatal diagnosis. The current situation and the significance and procedure of fetal neurosonogram were comprehensively reviewed in the article. As an effective method, fetal neurosonogram should be used as an important technique in prenatal diagnosis.

Clinical significance and prognosis of asymmetric ventricles in fetuses / 中华围产医学杂志

Objective To investigate the clinical significance and prognosis of ultrasound-identified asymmetric ventricles in fetuses,and to provide evidences for clinical consultation and management.Methods From January 2014 to May 2017,142 singleton fetuses were enrolled who were diagnosed with asymmetric ventricles through prenatal ultrasound in Peking University First Hospital and successfully followed up after birth.Asymmetric ventricles included simple lateral ventricular asymmetry [lateral ventricular widths were normal (＜10 mm) but with a difference of ≥ 2 mm between the two lateral ventricles and unilateral ventricular widening (only one lateral ventricle was ≥ 10 mm in width and the other was ＜10 mm).All 142 fetuses were divided into two groups according to whether they had other abnormalities (including abnormal ultrasound soft markers and structural abnormalities) or not.Clinical and imaging data of them were analyzed retrospectively.They were followed up for at least six months after birth.Neurological development regarding language,behavior and motor was evaluated using Denver Developmental Screening Test.Results There were 109 cases without other abnormalities and among them,38 (35％) spontaneously recovered in utero,two (2％) became worse,and 69 (63％) remained unchanged.Thirty-one of the 109 cases received fetal cranial MRI and abnormal brain development was found in only one case.No abnormal findings were reported in karyotyping in 38 cases and viral detection in 31 cases.One hundred and five fetuses were successfully delivered and four were induced including two cases for wider in unilateral lateral ventricle,one of continued widening,and one with abnormal brain development suggested by fetal cranial MRI.Among the 33 cases with other abnormalities,two were spontaneously recovered in utero,one became worse,15 unchanged and 15 were induced.Of the 20 cases underwent chromosomal examination,one unbalanced chromosome translocation was identified.Twelve fetuses underwent cranial MRI among which two were found abnormal (periventricular cyst and brain asymmetry).Sixteen cases were aborted including 15 with major abnormalities (major deformity or absence of extremities) and one with mild abnormality (abnormal ultrasound soft markers with progression in lateral ventricular width ≥15 mm in in utero follow-up).Seventeen cases were born including 16 with mild abnormalities and one with severe abnormality (unilateral renal cystic disease without chromosome abnormality).No significant developmental abnormality in language,behavior and motor was reported during follow-up.Conclusions Asymmetric ventricles have no significant impact on fetal growth and postnatal development.The prognosis of asymmetric ventricles mainly depends on the width of lateral ventricles in utero and concomitant abnormalities.Therefore,close attention should be paid on monitoring and follow-up.

Prenatal diagnosis of two families with megalencephalic leukoencephalopathy with subcortical cysts / 中华围产医学杂志

Objectives To provide genetic counseling and prenatal molecular diagnosis for two families with megalencephalic leukoencephalopathy with subcortical cysts (MLC).Methods Two MLC patients (probands 1 and 2) were admitted to the Department of Pediatrics of Peking University First Hospital in June 2011 and June 2009,respectively.Peripheral blood was collected and DNA sequencing was performed for genetic analysis for the two MLC patients and their parents.Amniotic fluid and villus of two fetuses (fetus 1 and 2) were collected at 21+4 and 12+3 weeks of gestational age from their mothers when they were pregnant again.The genomic DNA of the two fetuses was extracted and corresponding sites of MLC1 gene were sequenced.Haplotype analysis using a combination of 3 microsatellite markers (AR,DXS6807 and DXS6797) on chromosome X and sex determining region of Y chromosome was performed to detect maternal cell contamination.Verification of the prenatal molecular diagnosis and follow up study after birth were conducted for both fetuses.Results Macrocephaly,motor development delay and typical findings on brain MRI were identified in the two probands,and were clinically diagnosed with MLC.Compound heterozygous mutations were detected in proband 1 [c.353C＞T (p.T118M) and c.803C＞G (p.T268R)] and proband 2 [c.353C＞T (p.T118M) and c.836T＞C(p.L279P)],respectively.MLC was genetically diagnosed.Heterozygous variation in c.353[c.353C＞T (p.T118M)] and wild c.803C were identified in fetus 1,and both wild c.353C and c.836T were found in fetus 2.No maternal cell contamination was detected in both fetuses.Sequencing the corresponding sites after birth confirmed the prenatal diagnosis,and the head circumference and motor development were normal in fetus 1 at 5 months old.No macrocephaly was found and no DNA sequencing was done in fetus 2 at one month old.Conclusions Genetic counseling and prenatal molecular diagnosis for MLC families combined with clinical and genetic diagnosis are important in preventing MLC.Haplotype analysis with a combination of three microsatellite markers on chromosome X and sex determining region of Y chromosome is useful in detecting maternal cell contamination and avoiding its influence on prenatal diagnosis,and confirming the reliability of prenatal diagnosis.

Prenatal diagnosis and prognosis of fetal hyperechogenic kidney: a study of 65 cases / 中华围产医学杂志

Objective To investigate prenatal diagnosis and prognosis of fetus with hyperechogenic kidney.Methods Clinical data of 65 cases prenatally diagnosed with fetal hyperechogenic kidney in Peking University First Hospital between July,2009 and May,2015 were retrospectively analyzed.Results of fetal ultrasound screening and pregnancy outcomes were analyzed and Growth and development status of those babies were followed up until December,2015.Independent-sample-t,Chi-square or Fisher's exact test was applied for statistical analysis.Results Among the 65 cases,including 48(73.8％) bilateral and 17 (26.2％) unilateral,34 cases (52.3％) were diagnosed as non-isolated and 31 cases (47.7％) as isolated fetal hyperechogenic kidney.The primary associated malformations with non-isolated fetal hyperechogenic kidney included cardiac abnormality (14 cases,41.2％),urinary system abnormality (12 cases,35.2％),skeletal system abnormality (nine cases,26.5％),central nervous system abnormality (eight cases,23.5％) and Meckel-Gruber sydrome (one case,2.9％).Amniotic volume,the size and numbers of affected kidney between non-isolated and isolated groups showed no significant differences (all P＞0.05).Twenty out of the 65 cases (30.8％) received fetal karyotyping and one received non-invasive prenatal testing,and no abnormality was detected.Three cases received cord blood array comparative genomic hybridization with negative results.Pathogenic genes were found in two cases who received targeted exome capture with high throughput sequencing,including a TTC21B mutation in cord blood in one case and a HNF1β deletion mutation in peripheral blood after birth in the other.There were 23 (35.4％) terminations of pregnancy and 42 (64.6％) live births among which three died after birth.The rate of live birth was significantly higher in the isolated group than in the non-isolated group[87.1％(27/31) vs 44.1％(15/34),x2=13.101,P＜0.01].Of the fifteen live births in the non-isolated group,there were fourteen survived symptomfree except that one lost to follow-up.Of the 27 live births in the isolated group,follow up study revealed 23 symptom-free survivors,one lost,two neonatal deaths (one died of volvulus neonatorum,and the other due to unknown causes) and one death of renal and liver function failures at the age of two-and-a-half.ConclusionsFetal hyperechogenic kidney is an important prenatal ultrasound marker for congenital renal anomalies,and the prognosis of non-isolated fetal hyperechogenic kidney is poor.The current rate of abnormal karyotype in fetus with hyperechogenic kidney is very low.However,the rate of prenatal genes screening should be encouraged.

Consistency of fetal brain ultrasound screening and neurosonogram with MRI / 中华围产医学杂志

Objective To evaluate the consistency of fetal brain ultrasound screening and neurosonogram (NSG) with magnetic resonance imaging (MRI),and the clinical values of ultrasound and NSG in the diagnosis of fetal nervous system abnormalities,and the values of NSG in the diagnosis of fetal brain malformations.Methods A retrospective study was conducted on 221 gravidas who were diagnosed with fetal brain development abnormality by ultrasound screening or NSG in Peking University First Hospital between January 2012 and July 2015 and received fetal brain MRI within one week after ultrasound examination.According to the saved images,the 221 cases were divided into two groups:fetal brain ultrasound basic screening group (111 cases) which had three basic transverse planes and NSG group (110 cases) which had ten basic transverse planes.There were four conditions according to the diagnostic results of ultrasonography and MRI:ultrasonography and MRI suggesting the same diseases (A);ultrasonography and MRI suggesting the same diseases,but MRI providing more information for diagnosis (B);ultrasonography and MRI suggesting different diseases (C);ultrasonography suggesting abnormal,but MRI suggesting normal (D).Diagnostic results of ultrasonography and MRI were respectively comparatively analyzed in the two groups.T-test and Chi-test were used for statistical analysis.Results The diagnostic results for NSG group and fetal brain ultrasound basic screening group were listed as follows:A:70.9％(78/110) and 44.1％(49/111);B:7.3％ (8/110) and 8.1％ (9/111);C:3.6％ (4/110) and 21.6％ (24/111);D:18.2％ (20/110) and 26.1％ (29/111).The consistency with MRI results was higher in NSG group than that of fetal brain ultrasound basic screening group (x2=18.985,P＜0.001).Conclusions Compared with fetal brain ultrasound basic screening,NSG provides more consistent results with MRI,suggesting its great clinical value in the diagnosis of fetal nervous system malformations.

Characteristics of fetal anomalies detected on the third trimester ultrasound scan / 中华围产医学杂志

Objective To investigate the categories of fetal anomalies detected by ultrasound scan in the third trimester.Methods From January 1,2012 to December 31,2013,492 singleton fetuses were found to have structural abnormalities on the first,second or third trimester ultrasound scan in the Peking University First Hospital,only 50 (10.2％) fetuses were detected on the third trimester (≥ 28 weeks of gestation) with no abnormalities detected on the first and second trimester scan,were enrolled.The categories of the fetal structural abnormalities were analyzed.Results The age of the mothers of the 50 fetuses with structural abnormalities was (35.7± 5.2) years (26-43 years) with an average gestation of (32.4±2.8) weeks (28.6-36.8 weeks).These abnormalities were seen in the central nervous system (42％,21/50),digestive system (28％,14/50),urinary system (16％,8/50),cardiovascular system (8％,4/50),respiratory system (4％,2/50) and facial structures (2％,1/50).Intrauterine death occurred in one case and 49 mothers had a live birth.After birth,14 neonates were normal,five needed further treatment,three cases were complicated by other abnormalities,23 had no dysfunction but need follow-up and four were lost to follow-up.Six of the 20 (30％) fetuses with central nervous system abnormalities and 2/4 fetuses with cardiovascular system abnormalities had an adverse prognosis,while 1/12 and 2/7 fetuses with digestive and urinary system abnormalities had an adverse prognosis.Conclusions The central nervous system and cardiovascular system should be examined in priority during the third trimester ultrasound scan.