Intrauterine transfusion for fetal hemolytic disease caused by erythrocyte alloimmunization: a retrospective study / 中华围产医学杂志

Objective To investigate the outcomes of fetuses with hemolytic anemia caused by red cell alloimmunization following intrauterine transfusion (IUT),and to analyze the influence of hydrops fetalis on IUT treatment.Methods A retrospective analysis was conducted on 70 fetuses,who were admitted to the Fetal Medicine Center,the First Affiliated Hospital of Sun Yat-sen University from January 2005 to May 2018,with hemolytic disease requiring IUT.Clinical data of the fetuses and the gravidas were collected and divided into hydrops group (17 cases) and non-hydrops group (53 cases) based on their conditions before IUT.Results of routine blood tests before and after the first IUT,gestational age at the first IUT,prognosis and outcomes of the fetuses were compared between two groups.t-test,rank-sum test,Chi-square test (or Fisher's exact test) and multivariant logistic regression analysis were used for data analysis.Results Totally,the 70 fetuses underwent 231 times of IUT.Compared with the non-hydrops group,the hydrops group had a significantly increased incidence of severe anemia [14/17 vs 47.2％ (25/53),x2=6.458,P=0.011],but decreased hemoglobin [(38.5 ± 21.4) vs (68.7± 19.3) g/L,t=5.471,P＜0.001] and hematocrit level [0.110 (0.044-0.246) vs 0.222 (0.077-0.299),Z=-4.390,P＜0.001] before the first IUT.After the IUT,the survival rate of the fetuses in hydrops group was significantly lower than that of the non-hydrops group [11/15 vs 94.3％ (50/53),P=0.038].There was no significant difference in gestational age at birth,birth weight,neonatal hemoglobin level at birth,the incidence of exchange transfusion,the number of blood transfusions required or the incidence of severe neonatal complication between the two groups (all P＞0.05).Logistic regression analysis indicated that the fetal hydrops was an independent risk factor for fetal survival (OR=12.8,95％CI:1.2-136.4,P=0.035).Conclusions Hydrops fetalis might reduce the survival rate of fetal hemolytic disease after 1UT.

MRI manifestations of immunosuppressive drugs associated encephalopathy after allogeneic hematopoietic stem cell transplantation in children with aplastic anemia / 中华放射学杂志

Objective To summarize the MRI manifestations of immunosuppressive drugs associated encephalopathy after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with aplastic anemia. Methods Fifteen patients with immunosuppressive drugs associated encephalopathy after allogeneic hematopoietic stem cell transplantation for aplastic anemia during January 2014 to October 2016 were analyzed retrospectively. There were 7 males and 8 females, aged from 3 to15 years old, with the median age of 7 years old. Ten cases presented dizziness and headache while other 4 cases presented blurred vision, blind and gaze. Only one case suffered from seizure and loss of consciousness. MRI patterns including distribution, morphology and signal intensity were analyzed after treatment. Follow up MRI were performed after reducing drug dose and symptom remission. The duration of immunosuppressive drugs associated encephalopathy of the 15 cases were 1-14 months, with 6 months in 9 cases. Results Focal lesions were found in 11 cases, in which the deep nuclei were involved in one case and the white matter was involved in 10. Four patients showed both cerebral cortex and white matter lesions, including cerebellum and brainstem invasion in one patient. No corpus callosum lesions were found. Various degree of brain atrophy was found in all patients. Cortical lesions showed swelling and involved subcortical white matter presented as arc shape or strip-like lesions. Patchy patterns were found in deep white matter. Thin layer shaped lesions were found in the periventricular white matter. Small flake-like lesions were found in the brain stem and the cerebellum. The lesions showed hypointensity on T1WI, equal or high signal on T2WI. T2WI FLAIR showed equal or high signal;DWI in the cortex and subcortical white matter lesions showed iso-or high signal, while other lesions were isointense. Eight cases acquired clinical relief in short term without obvious improvement on MRI image. Both clinical symptoms and imaging findings improved in 6 cases. One case showed clinical relief but progression on MRI. Conclusions MRI is an effective way to find immunosuppressive drugs-related encephalopathy in children with aplastic anemia after allogeneic hematopoietic stem cell transplantation. It can help the diagnosis and provide the information for clinical treatment.

Prenatal genetic analysis of two fetuses with Miller-Dieker syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To perform molecular cytogenetic study on two fetuses with abnormal ultrasound findings and analyze their genotype-phenotype correlation.</p><p><b>METHODS</b>G-banded karyotyping, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed on amniotic fluid cells from both fetuses and peripheral blood samples from their parents. Results of SNP array were analyzed with bioinformatics software.</p><p><b>RESULTS</b>G-banded karyotyping failed to detect any abnormalities in both fetuses and their parents. SNP array detected a 2.484 Mb terminal deletion at 17p13.3 [arr[hg19] 17p13.3 (83 035-2 567 405)×1] in fetus 1 and a 3.295 Mb terminal deletion at 17p13.3p13.2 [arr[hg19] 17p13.3p13.2 (83 035- 3 377 560)×1] in fetus 2. Both deletions have overlapped with the critical region of Miller-Dieker syndrome (MDS) and involved candidate genes such as PAFAH1B1, YWHAE and CRK. In addition, SNP array and FISH analyses on the parental peripheral blood samples demonstrated that both 17p13.3 and 17p13.3p13.2 deletions were of de novo origin. Metaphase FISH performed on amniotic fluid cells confirmed the presence of 17p13.3 and 17p13.3p13.2 deletions detected by the SNP array, while metaphase FISH performed on the parents excluded any potential chromosome rearrangements.</p><p><b>CONCLUSION</b>Abnormal ultrasound features for fetuses with MDS mainly include central nervous system anomalies. SNP array can efficiently detect 17p13.3 microdeletions underlying MDS, and accurately map the breakpoints and involved genes, which may facilitate understanding of the genotype and phenotype correlations for MDS.</p>

Effects of estrogen replacement therapy on the myelin sheath of cerebral white matter and hippocampus and Lingo-1 expression in middle-aged ovariectomized rats / 基础医学与临床

Objective To detect the expressions of Lingo-1 and myelin associated protein in the white matter and hippocampus of ovariectomized rats after short-term estrogen replacement therapy in order to explore the possible mechanisms for the effects of estrogen on the brain myelin sheaths and cognitive function.Methods 24 middleaged (9-12 months) female Sprague-Dawley (SD) rats were bilaterally ovariectomized (OVX) and randomly divided into vehicle replacement (OVX+Veh) group and estrogen replacement (OVX+E) group.After one month ERT,The spatial learning and memory ability of all rats were assessed with Morris water maze.Then,10 rats were randomly selected from each group.The ultrastucture of myelin sheaths in the cerebral white matter and hippocampus were observed,and the protein expression of MBP and Lingo-1 were investigated with Western blot and immunohistochemical staining.Results The escape latencies of OVX+E rats in navigation test were significantly shorter than that of OVX+Veh rats(P＜0.05).The myelin sheaths in the white matter and hippocampus of OVX+Veh rats showed obviously degeneration.In the OVX+E group,the expression of MBP in the white matter and hippocampus was significantly higher than that of OVX+Veh group(P＜0.05),however,the expression of Lingo-1 was significantly lower than that of OVX +Veh group (P＜ 0.05).Conclusions One-month ERT has significant beneficial effects on the spatial learning capacity and myelin sheaths in the white matter and hippocampus.The protective effects may be related to estrogen-induced downregulation of the Lingo-1 expression in the white matter and hippocampus of rats.

CT features of pulmonary mucormycosis in post-hematopoietic stem cell transplantation patients with leukemia / 实用放射学杂志

Objective To summarize the CT features of pulmonary mucormycosis in post hematopoietic stem cell transplantation (HSCT) patients with leukemia,to provide timely and accurate guidance for clinical treatment.Methods 9 pulmonary mucormycosis in post HSCT patients with leukemia confirmed by surgery,biopsy and sputum culture were analyzed retrospectively.Distribution,morphology and CT features of the disease were analyzed and summarized.All patients were underwent non-enhanced MSCT.Results Reversed halo sign (n=7);patchy ground glass opacity (GGO) (n =5);bilateral multiple pulmonary nodules and nodular GGO (n=3);bilateral multiple pulmonary micro-cysts with spiculate boundary (n=1);pleural effusion (n=2);pneumo-mediastinum (n 1) were seen.Two or more than two CT signs were seen in some patients.The interval time between the appeared reversed halo sign and the transplantation were 0.5-19 months in 7 patients,which median time was 10 months and 6 cases (85.7％) appeared within 18months.8 patients (88.9 ％) presented cough,expectorated white or yellow phlegm,among them,4 cases (50 ％) presented bloodstained sputum or hemoptysis.3 cases (37.5 ％) presented left chest pain.1 case was asymptomatic.6 patients (66.7 ％) presented significant increased body temperature with the range from 38.4 ℃ to 39.6 C,the median was 39 C.3 patients (33.3％) showed normal temperature.The WBC counting was between 0.16-3.31 × 109/L,the median was 0.7 × 109/L.The neutrophil cell counting was between 0-2.46 × 109/L,with the median of 0.09 × 109/L.Among them,7 patients (77.8％) found reversed halo sign with neutrophil counting between 0-1.63 × 109/L,and the median was 0.09 × 109/L.Conclusion Various imaging manifestations of pulmonary mucormycosis are seen in post HSCT patients with leukemia.When patients is in agranulocytosis phase after transplantation HSCT,it is highly suggested pulmonary mucormycosis infection when the characteristic reversed halo sign is found.

MRI manifestations of immunosuppressive drugs associated encephalopathy after allogeneic hematopoietic stem cell transplantation in children with aplastic anemia / 中华放射学杂志

Objective To summarize the MRI manifestations of immunosuppressive drugs associated encephalopathy after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with aplastic anemia. Methods Fifteen patients with immunosuppressive drugs associated encephalopathy after allogeneic hematopoietic stem cell transplantation for aplastic anemia during January 2014 to October 2016 were analyzed retrospectively. There were 7 males and 8 females, aged from 3 to15 years old, with the median age of 7 years old. Ten cases presented dizziness and headache while other 4 cases presented blurred vision, blind and gaze. Only one case suffered from seizure and loss of consciousness. MRI patterns including distribution, morphology and signal intensity were analyzed after treatment. Follow up MRI were performed after reducing drug dose and symptom remission. The duration of immunosuppressive drugs associated encephalopathy of the 15 cases were 1-14 months, with 6 months in 9 cases. Results Focal lesions were found in 11 cases, in which the deep nuclei were involved in one case and the white matter was involved in 10. Four patients showed both cerebral cortex and white matter lesions, including cerebellum and brainstem invasion in one patient. No corpus callosum lesions were found. Various degree of brain atrophy was found in all patients. Cortical lesions showed swelling and involved subcortical white matter presented as arc shape or strip-like lesions. Patchy patterns were found in deep white matter. Thin layer shaped lesions were found in the periventricular white matter. Small flake-like lesions were found in the brain stem and the cerebellum. The lesions showed hypointensity on T1WI, equal or high signal on T2WI. T2WI FLAIR showed equal or high signal;DWI in the cortex and subcortical white matter lesions showed iso-or high signal, while other lesions were isointense. Eight cases acquired clinical relief in short term without obvious improvement on MRI image. Both clinical symptoms and imaging findings improved in 6 cases. One case showed clinical relief but progression on MRI. Conclusions MRI is an effective way to find immunosuppressive drugs-related encephalopathy in children with aplastic anemia after allogeneic hematopoietic stem cell transplantation. It can help the diagnosis and provide the information for clinical treatment.

Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the correlation between atypical neurofibromatosis type 1(NF1) microdeletion and fetal phenotype.</p><p><b>METHODS</b>Fetal blood sampling was carried out for a woman bearing a fetus with talipes equinovarus. G-banded karyotyping and single nucleotide polymorphism array (SNP-array) were performed on the fetal blood sample. Fluorescence in situ hybridization (FISH) was used to confirm the result of SNP array analysis. FISH assay was also carried out on peripheral blood specimens from the parents to ascertain the origin of mutation.</p><p><b>RESULTS</b>The karyotype of fetus was found to be 46, XY by G-banding analysis. However, a 3.132 Mb microdeletion was detected in chromosome region 17q11.2 by SNP array, which overlaped with the region of NF1 microdeletion syndrome. Analyzing of the specimens from the fetus and its parents with FISH has confirmed it to be a de novo deletion.</p><p><b>CONCLUSION</b>Talipes equinovarus may be an abnormal sonographic feature of fetus with atypical NF1 microdeletion which can be accurately diagnosed with SNP array.</p>

Perinatal outcome of monochorionic diamniotic twins with selective intrauterine growth restriction / 中华妇产科杂志

Objective To evaluate the perinatal outcome of three types of monochorionic diamniotic (MCDA) twins with selective intrauterine growth restriction (sIUGR).Methods From January 2005 to June 2012,clinical data of 42 pairs of MCDA twins (84 fetuses) with sIUGR and 71 pairs of normal MCDA twins (142 fetuses) in the same period were analyzed retrospectively in the First Affiliated Hospital of Sun Yat-Sen University.Fetuses with sIUGR were classified into three groups based on umbilical artery Doppler flow.There were 25 cases of type Ⅰ,11 cases of type Ⅱ and 6 cases of type Ⅲ.The perinatal outcome was compared between sIUGR and normal MCDA twins,and among the three types of sIUGR as well.Perinatal outcomes included gestational age at delivery,rate of intrauterine fetal death (IUFD),birth weight,intertwin discordance of birth weight,neonatal death and survival rate at 6 months.Results (1) The gestational age of sIUGR at delivery was significantly earlier than the control group [(34 ± 3),(36 ±2) weeks,respectively],and the rate of IUFD of both fetuses of sIUGR was significantly higher (4.8％,0,respectively).In the sIUGR group,the average birth weight of large or small twins[(2130 ±.350),(1520 ±400) g,respectively] was smaller than those in the control group [(2470 ± 500),(2340 ± 460) g,respectively].The difference was statistically significant (P ＜ 0.05,P ＜ 0.01,respectively).The intertwin discordance of birth weight in sIUGR group was significantly larger (27.6％) than the control group(4.0％,P＜0.01).(2) The gestational age at delivery in type Ⅱ and type Ⅲ [(34 ±5),(34 ±2) weeks,respectively] was significantly earlier than the control group (P ＜ 0.05).The rate of IUFD of both fetuses in type Ⅱ (18％) was significantly higher than in type Ⅰ (0) and the control group (0,P ＜ 0.05).In sIUGR group,the average birth weight of small twins in type Ⅰ,type Ⅱ and type Ⅲ was (1640 ±430),(1330 ±310) and (1500 ±380) g respectively,all of which were significantly smaller than that in the control group (P ＜ 0.05).The average birth weight of small twins in type Ⅱ was smaller than in type Ⅰ and the difference was statistically significant (P ＜ 0.05).In sIUGR group,the intertwin discordance of birth weight in type Ⅰ,type Ⅱ and type Ⅱ was 24.1％,34.6％,31.3％ respectively,all of which were significantly larger than that in the control group(4.0％,P ＜ 0.05).There were no statistically significant differences of the intertwin discordance of birth weight among the three types of sIUGR(P ＞0.05).Survival rate at 6 months in type Ⅱ (64％) was significantly lower than in type Ⅰ (92％) and the control group (91.5％,P＜0.01).Conclusions The perinatal outcome of MCDA twins with sIUGR is poor.The outcome is different among the three types of sIUGR,and type Ⅰ is the worst.Type Ⅱ is associated with a high risk of intrauterine fetal demise.It is important to monitor the intrauterine situation closely.

Nursing of patients with monochorionic twins undergoing selective feticide with bipolar electrocoagulation / 中国实用护理杂志

Objective To summarize the key nursing points in patients with monochorionic twins undergoing selective feticide with bipolar electrocoagulation.Methods Selective feticide with bipolar electrocoagulation were performed in 68 monochorionic twins with one twin anomaly.And the perioperative care was performed on the patients.Results Operations were accomplished successfully in 68 cases.No complications,such as infections,premature rupture of membrane and so on,were found in all cases seven days after operation.Conclusions The nursing key points include preoperative psychological nursing by interpretation of the operations,monitoring fetal heart sounds during operations,and close observation of body temperature,uterine contractions and fetal heart rate in pregnant women after operations.Careful perioperative nursing is helpful for improvement of operative success and to ensure normal development of fetus.

Nursing of patients undergoing amnioreduction by fast and negative pressure drainage / 中国实用护理杂志

[Objective] To summarize the perioperative nursing points during the amnioreduction by fast and negative pressure drainage.[Methods] Amniodrainage and associated nursing care were performed in 93 hydramnios cases of pregnant women from January 2006 to December 2010,and the nursing key points were summarized.[Results] Operations were performed successfully in 93 hydramnios cases of pregnant women.No complications occurred in 92 eases 3 d after operation.Bellyache and uterine contraction occurred in one case 2h after operation,which indicated placental abruption,two dead fetuses were got out by cesarean section.[Conclusions] The nursing key points included preoperative psychological nursing by interpretation of the operation,monitoring fetal heart sounds and close observation of contrac-tions in pregnant women.Careful perioperative nursing for patients with hydramnios is important to improve the success rate and reduce postoperative complications.

Intrauterine growth characteristics of twins and those twins discordant birthweight / 中华妇产科杂志

Objective To investigate the intrauterine growth characteristics of twins and birthweight discordant twins (discordant twins ).MethodsTotal of 1010 twin pregnancies (2020 fetuses) with complete delivery records from the Department of Obstetrics and Gynecology,the First and Third Affiliated Hospital of SUN Yat-sen University between January 1,2000 and July 31,2010 were studied retrospectively.One handred and ninteen cases (238 fetuses) with intrapair birthweight difference ≥25％ were determined as the discordant twins group,and the other 891 cases (1782 fetuses) with intrapair birthweight difference ＜ 25％ were identified as the concordant twins group.The singleton control group included 4042 singleton pregnancies in the same period.Results ( 1 ) Comparison of clinical data between the twins groups:the birthweight of larger-twin,smaller-twin and intrapair birthweight difference in the discordant twins group and the concordant twins group were ( 2090± 827 ) g,( 1392 ± 592 ) g,( 33.9 ±9.3 ) ％,and ( 2408 ± 543 ) g,( 2191 ± 505 ) g,( 8.9 ± 6.5 ) ％,respectively,with significant differences (P＜0.01).The incidence of discordant twins was 11.78％ (119/1010).Compared with the concordant twins group,the discordant twins group bad higher proportion of monochorionic twins,and higher prevalence of pregnancy complications such as late miscarriage,abnormal umbilical insertion,twin-twin transfusion syndrome and hypertensive disorders in pregnancy ( P ＜ 0.05 ).( 2 ) The characteristics of twin birthweight distribution:① In all the 2020 twins,80.05％ (1617/2020) fetuses had birthweight below the 50th percentile of the singleton control group,while 23.71％ (479/2020) feeuses got birthweight below the 10th percentile of the singleton control group.② After 19th gestational week,the 50th and 90th percentile of all twins' birthweight were lower than those of singletons.After 38th gestational week,the birthweight of singletons kept increasing and reached its peak at 41 th week,while the birthweight of twins reached its peak at 38th week,followed by a decline at 39 weeks,which was even lower than the 10th percentile of the singleton control group.③ The distribution of birthweight of larger- and smaller-twin in the discordant twins group:65 (54.6％,65/119) larger-twins and one (0.8％,1/119) smaller-twin had birthweight above the 50th percentile of all twins,while 5 (4.2％,5/119) larger-twins and 97 ( 81.5％,97/119 ) smaller-twins got birthweight below the 10th percentile of all twins.Conclusions ( 1 ) The patterns of birthweight curves for each gestational week are different between twins and singletons.In order to evaluate the growth of twins, birthweight reference for twins shoull be employed.( 2 ) According to the reference of twins birthweight,the most discordant twins are complicated with fetal growth restriction at least in one twin.

Prenatal evaluation and management of 25 cases of twin reversed arterial perfusion sequence / 中华围产医学杂志

Objective To analyze the clinical characteristics of twin reversed arterial perfusion sequence (TRAP),and investigate its prenatal evaluation and clinical management.Methods Karyotype results and ultrasound data of 25 TRAP cases were retrospectively reviewed,including estimated weight and umbilical blood flow of acardiac twin,cardiac function and middle cerebral artery peak systolic velocity of pump twin.Various managements and the outcomes were analyzed.Results (1) Karyotype of amniotie fluid were tested in 16 pump twins.Mosaicism was found in 1 case (46,XX[36]/46,XY [14]).(2) According to the ultrasound evaluation,large acardia accounted for 87.0％ (20/23) cases.Abundant blood perfusion (inter-twin difference of umbilical resistance index ≤0.20) was indicated in 86.4％ (19/22) cases.Decompensation of cardiac function was suggested in 66.7％ (10/15) pump twins.Fetal anemia of pump twin indicated by middle cerebral artery peak systolic velocity＞1.5 multiples of the median was diagnosed in 75.0％ (12/16) cases.(3) The acardiac twin with abundant blood perfusion was more likely to be a large acardia than those without [94.7％(18/19) vs 1/3,Fisher exact test,P=0.04]; More pump twin with large acardia tended to have cardiac decompensation than non-large acardia pump twins [83.3 ％ (10/12) vs 0/3,Fisher exact test,P=0.02].(4) Eleven patients chose to terminate their pregnancies after being diagnosed.In 14 cases who continue the pregnancies,the survival rate of pump twin was 64.3％ (9/14).In 3 cases of non-large acardia without cardiac decompensation of pump twin,the patients selected conservative observation resulting in 2 term deliveries and 1 termination of pregnancy due to for exacerbation.Among 11 cases with large acardia,which the pump twins were complicated by cardiac decompensation or anemia,five cases selected conservative observation.One ended in spontaneous abortion; three exacerbated (one termination and two cesarean section before term with living births) ; one was stable until delivery.Another 6 cases received bipolar cord coagulation,and successful interruptions of acardiac blood flow were achieved in 5 cases among which 4 pump twins survived.Conclusions Prenatal diagnosis,cardiac function and fetal anemia of pump twin,together with the growth and blood supply of acardia are important indexes for prenatal evaluation of TRAP,on which our prompt management should be based.

Invasive prenatal diagnostic procedures in twin gestations / 中华围产医学杂志

Objective To evaluate the effectiveness and safety of invasive procedures of prenatal diagnosis for twin gestations through analysing the results and outcomes of twins.Methods Invasive prenatal diagnostic procedures guided by ultrasound were introduced to 164 twin pregnancies with various indications,including 111 amniocentesis,and 53 cordocentesis.The results of prenatal diagnosis,complications and outcomes of these twins were analyzed with Chi-square test or Fisher's exact test.Results (1) Chromosome was examined in 261 fetuses and 6.13% (16/261)had abnormal karyotypes.(2) Comparing amniocentesis with cordocentesis,the fetal loss rate within two weeks after the procedure were 0.00% (0/191) and 3.85% (3/78),respectively (P=0.024).The total fetal loss rate and preterm delivery rates in amniocentesis and cordocentesis group were 3.87% (6/155) and 5.45% (3/55),51.22% (42/82)and 38.71% (12/31),respectively (P=0.235and 0.618).(3) Selective feticide was performed on 18 cases after prenatal diagnosis.Fifteen cases had survival neonates,two cases suffered from spontaneous abortion,and two cases had preterm labor with neonatal death.Conclusions (1) Invasive prenatal diagnostic procedures are effective and feasible in twins.Amniocentesis is a relative safer and simpler alternative to cordocentesis,which demanding higher skill and carrying higher fetal loss rate.(2) Mid-trimester selective feticide after prenatal diagnosis appears safety.Before the procedure,the chorionicity and fetal condition should be considered,in order to choose suitable feticide procedures.

Prenatal diagnosis of trisomy 18 syndrome with sonogram index scoring system / 中华妇产科杂志

Objective To explore the value of sonogram index scoring system in the prenatal diagnosis of trisomy 18 syndrome.Methods Neonates who had prenatal sonographic screening in our tertiary center were followed up from January 2004 to December 2009.The fetuses who were suspected with abnormalities received karyotype analysis.All fetuses were divided into case group ( trisomy 18 group) and the control group (non-trisomy 18 group).The latter group was constituted of fetuses with trisomy 21,trisomy 13,other chromosomal abnormalitis and fetuses with normal karyotype.Logistic regression analysis was done to decide the individual sonographic features of trisomy 18.A score was assigned for ultrasound markers according to their likelihood ratios for trisomy 18 syndrome.A score of 3 was assigned for the sonographic features with likelihood ratio over 200,2 for those with likelihood ratio between 100 and 200,and 1 for those with likelihood ratio less than 100.The diagnostic efficacy of the ultrasound index scoring system was evaluated by diagnostic test.The optimal cutoff value was determined by receiver operating characteristic (ROC) curve.Results The study group included 59 fetuses with trisomy 18.And 26 486 fetuses did not have trisomy 18 syndrome,including 93 fetuses with trismoy 21,19 fetuses with trisomy 13,134 fetuses with other chromosomal abnormalities,3739 fetuses with normal karyotype and 22 501 fetuses with normal appearance after birth.Two or more structural defects were observed in each trisomy 18 fetus.The highest incidence of sonogram abnormalities was extremities abnormalities (85％,50/59 ),followed by cardiac defects (83％,49/59) and central nervous system (CNS) malformations (75％,44/59).Overlapping fingers,ventricular septal defect and strawberry-shaped skull were the most common abnormalities in extremities abnormalities,cardiac defects and CNS malformations,respectively.Logistic regression identified 16 markers,including choroid plexus cyst,strawberry-shaped skull,enlarged cisterua magna,holoprosencephaly,low-set ears,ventricular septal defect,hypoplastic left heart syndrome,etc.Different scores were assigned according to the likelihood ratios of these markers.In trisomy 18 group,fetuses with the sonographic score of 1,4,9,10 to 16 were 2％ ( 1/59),9％ (5/59),10％ (6/59) and 32％ (19/59) respectively,whereas in non-trisomy 18 group they were 2.549％ (675/26 486),0.215％ (57/26 486),0.004％ ( 1/26 486) and zero,respectively.When a score of 4 was used as the cutoff value for diagnosing fetal trisomy 18,the sensitivity and specificity were 0.966 and 0.997,respectively.The area under ROC curve was 0.999.Conclusions The ultrasound index scoring system may help to quantify the ultrasound features and has a good diagnostic value for fetal trisomy 18 syndrome.The cutoff value of 4 has the best diagnostic efficacy.

Clinical features of abnormal chromosome karyotypes in twin pregnancies complicated with structural abnormalities / 中华妇产科杂志

ObjectiveTo investigate the clinical features of the abnormal chromosome karyotypes in twin pregnancies complicated with fetal malformations. Methods Totally 181 twin pregnancies (362 fetuses) in which one or two fetuses had abnormalities diagnosed by ultrasound were referred to the First Affiliated Hospital of Sun Yat-Sen University from January, 2000 to September, 2010. They were divided into different groups according to ( 1 ) maternal age: the cases with maternal age ≥35 were divided into advanced pregnancy group ( 105 fetuses) , and those with maternal age ＜35 were divided into young pregnancy group (203 fetuses) ; ( 2 ) conceived method : those conceived by assisted reproductive technology were divided into assisted reproductive group (81 fetuses), and the natural conception pregnancies were divided into natural conception group (227 fetuses) ; ( 3 ) chorionicity: the monochorionic twin (MCT) pregnancies were divided into MCT group( 123 fetuses), and the dichorionic twin (DCT) pregnancies were divided into DCT group( 185 fetuses); (4) structural abnormalities: 205 fetuses with structural abnormalities were divided into the abnormal fetal group, and 103 fetuses without structural abnormalities were divided into the normal fetal group. All fetuses were examined by the ultrasound and chromosomes were examined in 308 fetuses. Results( 1 ) The karyotype of fetuses: among 181 twin pregnancies, 23 cases had chromosomal abnormalities in 1 or 2 fetuses ( 12. 7％ ,23/181 ), and chromosomes were exarmined in both fetuses in 20 of 23 cases. Twenty-six of 308 fetuses were found with abnormal chromosomes ( 8.4％, 26/308 ) , and the aneuploid was the most common type of abnormal karyotypes ( 53.8％ , 14/26 ). Twenty-one of 205 fetuses with malformations were found with abnormal karyotypes (10. 2％, 21/205 ). (2) Seven of 123 fetuses in MCT group were with abnormal karyotypes (5.7％, 7/123), and 19 of 185 fetuses in DCT group were with abnormal karyotypes ( 10. 3％, 19/185 ). There was no statistical difference of abnormal chromosome incidence between the two groups. There were 14 fetuses with aneuploid in DCT group ( 7.6％, 14/185 ) ;but there was no fetus with aneuploid in MCT group. There was statistical difference between these two groups. In two cases of DCT group, only one fetus with malformation received chromosome examination because another fetus was dead, and the karyotypes were trisomy 21 and trisomy 18 respectively. Both fetuses of the rest 17 cases received chromosome examination, and the chromosomes of both fetuses in each pregnancy were different. Fifteen of 19 fetuses with abnormal chromosomes in DCT group were complicated with structural abnormalities, and 7 fetuses of 4 twin pregnancies in MCT group were with chromosomal abnormalities. (3) The comparison of the abnormal karyotype incidence between the advanced pregnancy group and young pregnancy group: the abnormal karyotype incidence of the advanced pregnancy group was 7. 6％ (8/105), and that was 8.9％ (18/203) in young pregnancy group. There was no statistical difference between the two groups ( P ＞ 0. 05 ). Six of 105 fetuses in advanced pregnancy group were aneuploids (5. 7％, 6/105), and 8 of 203 fetuses in young pregnancy group were aneuploids (3.9％, 8/203). The aneuploid incidence in advanced pregnancy group was significantly higher than that in young pregnancy group ( P ＜ 0. 05 ). (4) The comparison of the abnormal karyotype incidence between the assisted reproductive group and the natural conception group: 11 of 81 fetuses were with the abnormal karyotypes in assisted reproductive group ( 13. 6％, 11/81 ), and 15 of 227 fetuses were with the abnormal karyotypes in assisted reproductive group (6. 6％, 15/227). There was statistical difference between the two groups ( P ＜0. 05). There were 7 fetuses with the aneuploid in assisted reproductive group ( 8. 6％, 7/81 ) and 7 fetuses with the aneuploid in natural conception group ( 3. 1％, 7/227 ), which showed no statistical difference ( P ＞0. 05 ).(5) The comparison of the abnormal karyotype incidence between the abnormal fetal group and normal fetal group: 21 of 205 fetuses in abnormal fetal group were with abnormal karyotypes (10. 2％, 21/205), and 5 of 103 fetuses in normal fetal group were with abnormal karyotypes ( 4. 9％, 5/103 ) . There was no statistical difference (P ＞ 0. 05 ). 13 fetuses in abnormal fetal group were with the aneuploid (6. 3％, 1 3/205), and only one fetus in normal fetal group was aneuploid (1.0％, 1/103 ). There was statistical difference between the two groups ( P ＜ 0. 05 ). ConclusionsAneuploid is the most common abnormal karyotype in twin pregnancy complicated with fetal abnormalities, especially trisomy 21. Aneuploid mainly occurs in only one fetus of DCT, and chromosomal discordance is usually found in DCT. While in MCT, the twin fetuses with the same abnormal karyotype may have different pbenotypes. The results suggest that it is necessary to analyze both karyotypes of twins even if only one fetus is complicated with structural abnormalities.

Comparison between transabdominal and transcervical chorionic villus sampling in clinical application for prenatal diagnosis / 中华妇产科杂志

Objective To compare transabdominal and transcervical chorionic villus sampling (TC-CVS) in application for prenatal diagnosis, and to summarize the experience of transabdominal chorionlc villus sampling (TA-CVS). Methods One hundred and nine TA-CVS between April 2005 and November 2007 and 69 TC-CVS between August 1999 and March 2005 were retrospectively analyzed. Results ( 1 ) The mean gestational age was (12.4±1.9) weeks at TA-CVS and (8.8±1.2) weeks at TC-CVS (P< 0.01). (2) Compared with TC-CVS, punctures were fewer (1.4±0.5) and (1.1±0.4) and specimen amount was more (9±5) mg and (17±5) mg in TA-CVS, and the success rate of one puncture (62.3% vs 87.2% ) was higher in TA-CVS. (3)Among the cases followed up, the incidence of vaginal bleeding(TA-CVS: 2 eases, 2.0% ; TC-CVS: 2 cases, 6.1% ) and spontaneous abortion (TA-CVS: 4 cases, 4.0%; TC-CVS: 1 cases, 3.0%) were not significantly different between the two groups(P>0.05).Conclusion TA-CVS appears to be a good method for early prenatal diagnosis with a wide range of indications, high success rate and sufficient specimen.

Bipolar coagulation used in selective feticide of monochorionic twins with one twin anomaly / 中华妇产科杂志

Objective To summarize our preliminary experience of selective fetieide with bipolar coagulation in complicated monochorionie twins(MCT),and discuss the clinical application of feticide in discordant MCT.Methods Three MCT with one twin anomaly.in which 2 had severe twin-twin transfusion syndrome(TTTS),stage Ⅳ ,and 1 had acardiac twin,were identified in the second trimester of pregnancy.To terminate the abnormal twin and isolate the co-twin's circulation completely.selective feticide was performed by umbilical cord occlusion with bipolar coagulation under guidance of ultrasound and fetoscopy.After each invasive procedure,serial monitoring was performed,including procedural complications,Doppler of fetal middle cerebral artery and umbilical artery.Pregnancies were followed up every 2 weeks for fetal growth until delivery.After birth the placentas and the terminated fetuses were examined.Result Cord occlusion was successfully accomplished in all 3 targeted fetuses,at 21,22 and 24 weeks of gestation respectively.One case with TTTS was complicated with rupture of the membrane in the terminated fetus at the 7th day after the procedure.and a healthy baby was born at 32 weeks.The other case with TTTS delivered a boy by cesarean section at 38 weeks.The third case with TRAP is at 35 weeks of gestations and under regular follow-up.Monochorionicity was confirmed by placental examination after delivery.and the effects of bipolar coagulation were observed at the,cord of terminated fetuses.Conclusions Umbilical cord occlusion witll bipolar coagulation is an effective procedure for selective feticide in MCT with one twin anomaly.The outcome of normal fetus can be favorable.