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Abstract Hypoplastic left heart syndrome (HLHS) is characterized by underdevelopment of the left-sided heart structures. The prenatal diagnosis of this congenital heart disease is crucial because a newborn with undiagnosed HLHS often presents with clinical signs of low cardiac output once the ductus arteriosus begins to close. With that in mind, the aim of this article was to perform a non-systematic review focusing on the key ultrasound features that can be used in the prenatal diagnosis of HLHS. Severe forms of HLHS are characterized by a markedly abnormal four-chamber view of the fetal heart (small left atrium, hypoplastic left ventricle, or abnormal mitral valve). The left ventricular outflow tract view allows the degree of hypoplasia in the tract to be evaluated and the diameter of the ascending aorta to be measured. The Z-scores are intended to aid in the diagnosis and follow-up of HLHS. In mild forms of HLHS, a right ventricle/left ventricle length ratio > 1.28 was the strongest predictor of a univentricular outcome.
Resumo A síndrome do coração esquerdo hipoplásico (SCEH) é caracterizada pelo subdesenvolvimento das estruturas cardíacas do lado esquerdo. O diagnóstico pré-natal dessa cardiopatia congênita é crucial, uma vez que recém-nascido com SCEH não diagnosticado apresenta, frequentemente, sinais clínicos de baixo débito cardíaco, quando o canal arterial começa a se fechar. Por isso, o objetivo deste artigo foi realizar uma revisão não sistemática sobre as principais características ultrassonográficas que podem ser usadas no diagnóstico pré-natal da SCEH. As formas graves de SCEH são caracterizadas por plano de quatro câmaras marcadamente anormal (átrio esquerdo pequeno, ventrículo esquerdo hipoplásico, válvula mitral anormal) do coração fetal. A visualização da via de saída do ventrículo esquerdo permite a avaliação do grau de hipoplasia dessa via e a mensuração da aorta ascendente. Os escores Z têm como objetivo auxiliar no diagnóstico e acompanhamento da SCEH. Nas formas leves da SCEH, a relação comprimento do ventrículo direito/comprimento do ventrículo esquerdo > 1,28 foi a variável mais forte para identificar o desfecho univentricular.
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OBJECTIVE@#To identify one case of rare Hb Lepore-BW associated with IVS-II-654 heterozygous mutation in Sichuan area.@*METHODS@#The blood routine examination and hemoglobin electrophoresis methods were used to analyze the blood routine parameters, HbA2 and HbF in the samples of peripheral blood in proband and his parents, as well as the cord blood of pregnant woman. The detection of thalassemia gene and Sanger sequencing methods were used to detect the hemoglobin mutations.@*RESULTS@#The result showed that the Hb Lepore-BW heterozygous mutation was detected in the father of the proband, while a rare Hb Lepore-BW with IVS-II-654 heterozygous mutation was detected in the proband, as well as his mother and cord blood were both detected as IVS-II-654 heterozygous mutation.@*CONCLUSION@#The study identified a rare Hb Lepore-BW with IVS-II-654 heterozygous mutation, which was characterized by intermediate β-thalassemia. It is necessary to hemoglobin electrophoresis combined with routine blood testing in prenatal screening.
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Female , Humans , Infant, Newborn , Male , Pregnancy , Hemoglobins, Abnormal/genetics , Heterozygote , Mutation , Prenatal Diagnosis , beta-Thalassemia/geneticsABSTRACT
ABSTRACT Objective: To establish the oxidant/antioxidant status in serum samples from pregnant women above the threshold for Down syndrome (DS) risk, according to the quadruple test. Methods: Thirty maternal serum samples that were above the threshold for DS risk (study group) were chosen from pregnant women whose quadruple tests were studied at Ankara University Ibni Sina Hospital Central Laboratory. They were matched with the control group consisting of 30 pregnant women whose DS risk were below threshold. Malondialdehyde level, glutathione peroxidase and non-enzymatic superoxide radical scavenger activities (NSSAs) were analyzed in the study and control groups. Results: It was found that NSSA was significantly decreased in the study group as compared to the control group (p = 0.006). Malondialdehyde levels had a tendency to increase with gestational week in both groups (p = 0.042 in the study group and p < 0.001 in the control group). Conclusion: There is a significant decrease in non-enzymatic antioxidant capacity in pregnant women that were above the threshold for DS risk, as compared to the control group. In the context of these results, dietary antioxidant supplementation might be a useful approach during early gestation, especially around the time of conception, possibly to prevent bearing a DS fetus.
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Background: Congenital primary infections with Toxoplasma gondii, cytomegalovirus (CMV), Epstein–Bar virus (EBV), rubella, and hepatitis B virus (HBV) are viral infections transmitted transplacentally through the blood to the fetus and can be life-threatening. Therefore, we aimed to determine the prevalence of these infections and assess the cost-effectiveness of blood tests among pregnant women with positive serologies.Methods: This retrospective review was conducted among pregnant women with positive prenatal screening serology test results between January 2013 to July 2018. A p-value of <0.05 was used to calculate statistical significance.Results: Overall, 9095 pregnant women delivered in the last 5 years. Of these, 97 had positive prenatal screening serology and were enrolled in our study. Of 97, 61 (62.9%) were Saudis and 36 (37.1%) non-Saudis. The prevalence rates of rubella, CMV, EBV, and HBV were 78.35%, 59.79%, 14.43%, and 5.15%, respectively. Additionally, 44 of 97 women developed undesired antepartum outcomes, whereas 47 had adverse neonatal outcomes. CMV, HBV, and rubella were significantly associated with adverse pregnancy outcomes (P<0.005). During the study period, USD 1460228.27 was spent to screen 9095 pregnant women and USD 15573.68 to diagnose 97 pregnant women with positive serology.Conclusions: Because infections with toxoplasma, CMV, EBV, rubella, and HBV can cause serious risk to the mother and fetus during pregnancy. Thus, setting new hospital policies regarding early screening for high-risk pregnancies and early detection of these infections during prenatal visits are inevitable to avoid undesired outcomes.
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Collodion baby is a rare form of congenital ichthyosis in which the entire body is covered by a parchment-like membrane. These neonates are at the risk of dehydration, sepsis, electrolyte disturbances, and temperature instability. It is inherited in autosomal recessive manner. We report a case of Collodion baby, born of a consanguineous marriage. Here, we present a short review of this condition and the various methods available for the prenatal diagnosis. A literature search was done using PubMed, Medline, and Google Scholar databases using the mesh terms 'Ichthyosis', 'collodion baby', 'collodion membrane', 'Congenital ichthyosiform erythroderma', and 'Lamellar ichthyosis'.
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Prenatal screening has undergone from simple age screening, serological prenatal screening, multiple serological screening, to combined screening with cell-free fetal DNA in maternal blood (non-invasive prenatal testing, NIPT). prenatal screening plays an important role in the detection and prevention of birth defects, such as chromosomal abnormalities and open neural tube defects(ONTD). With the emergence of NIPT technology, serological test result in prenatal screening has been outgrowth from the functional surrogate of the development status of fetus and placenta to the predictors of pre-eclampsia and fetal growth retardation(FGR). Therefore, large scale screening program will further improve maternal safety and reduce birth defects.
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BACKGROUND: Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility of NIPT for the detection of trisomies 21, 18, and 13 of high-risk fetus in a large Korean population. METHODS: This study was performed retrospectively, using stored maternal plasma from 1,055 pregnant women with singleton pregnancies who underwent invasive prenatal diagnosis because of a high-risk indication for chromosomal abnormalities. The NIPT results were confirmed by karyotype analysis. RESULTS: Among 1,055 cases, 108 cases of fetal aneuploidy, including trisomy 21 (n = 57), trisomy 18 (n = 42), and trisomy 13 (n = 9), were identified by NIPT. In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomy 21, and 92.9% sensitivity and 100% specificity for trisomy 18, and 100% sensitivity and 99.9% specificity for trisomy 13. The overall positive predictive value (PPV) was 98.1%. PPVs for trisomies 21, 18, and 13 ranged from 90.0% to 100%. CONCLUSION: This study demonstrates that our NIPT technology is reliable and accurate when applied to maternal DNA samples collected from pregnant women. Further large prospective studies are needed to adequately assess the performance of NIPT.
Subject(s)
Female , Humans , Pregnancy , Aneuploidy , Chromosome Aberrations , DNA , Down Syndrome , Fetus , High-Throughput Nucleotide Sequencing , Karyotype , Plasma , Pregnant Women , Prenatal Diagnosis , Prospective Studies , Retrospective Studies , Sensitivity and Specificity , TrisomyABSTRACT
Objective • To understand the cognition, attitude, willingness and demand for non-invasive prenatal testing (NIPT) of pregnant women. Methods • A total of 852 pregnant women were enrolled, including 318 pregnant women with low risk of Down syndrome screened in Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, and 534 pregnant women with high risk of Down syndrome screened in several hospitals in Shanghai who further went to Xinhua Hospital, Shanghai Jiao Tong University School of Medicine for NIPT to confirm the diagnosis of Down syndrome screening. The information about the cognition, attitude, willingness and demand for NIPT was collected by a standard questionnaire. Results • A total of 760 questionnaires were collected, of which 728 ones were valid, with an effective questionnaire rate of 85.45%. The proportion of pregnant women with ideal cognition level was 51.24%. However, 83.10% of pregnant women held a positive attitude towards the promotion of NIPT. There were 79.54% of pregnant women considering it necessary to provide genetic counseling before NIPT. Conclusion • It is of great significance to strengthen the prenatal propaganda and education and pre-test genetic counseling so as to improve the cognitive level of pregnant women and make rational use of NIPT.
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Objective To explore the clinical significance of non-invasive prenatal genetic testing to screen prenatal fetal chromosomal abnormalities. Methods Peripheral blood was collected from 6 283 pregnant women who underwent non-invasive prenatal genetic testing at our hospital, and fetal DNA was extracted and purified for analysis. The complementary base principle of semiconductor chip technology was used to analyze all sequenced signals with BioelectronSeq 4000. Invasive prenatal diagnosis was performed in high-risk pregnant women according to the results of the sex chromosome sequencing signal analysis. Results Of the 6 283 pregnant women screened, 14 were found to have chromosomal abnormalities, and the positive rate was 0. 22％. Karyotype analysis was performed on 11 of the women; the remaining 3 refused to be diagnosed. Of these 11 women, 2 of the 5 patients with a high risk of XO were diagnosed with fetal chromosomal abnormalities (diagnosed as XO/XXX chimera and XO, respectively), and 3 were diagnosed with a normal karyotype; 5 patients with a high risk of XXY were diagnosed as XXY; and 1 patient with a high risk of XXX was confirmed as XXX. NIPT accuracy was measured to be 73％ (8/11). The detection rate of fetal chromosomal abnormalities by non-invasive prenatal genetic testing was significantly higher in the years 2015-2016 than in 2011-2014 (P ＜ 0. 05). Conclusion Non-invasive prenatal genetic testing for screening chromosomal abnormalities has a high accuracy rate and could improve the detection rate of fetal chromosomal abnormalities.
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Objective To analyze adverse pregnancy outcomes among women with high risk and low risk during prenatal screening. Methods Clinical data of 180006 pregnancies in 5 prenatal screening center in Hangzhou were collected. We compared the adverse pregnancy outcomes of high and low risk pregnancies. Results Among 180006 pregnancies (age<35 years old), there were 10296 high-risk cases and 169710 low-risk cases, with 168654 cases followed. There were 9406 high-risk cases of Down's syndrome (DS) (5.23％), 273 high-risk cases of Edwards' syndrome (ES) (0.15％) and 617 high-risk cases of open neural tube defect (ONTD) (0.34％) . The detection rate of pregnancy outcome of premature birth, spontaneous abortion, termination of pregnancy, stillbirth in the high risk was 5.46％, 0.80％, 1.80％, 0.37％, respectively, and that rate in low risk results was 3.50％, 0.21％, 0.38％, 0.18％, respectively. Adverse pregnancy outcomes in high-risk group were significantly higher than that in low-risk group (all P<0.001) . The actual incidence rate of DS, ES or ONTD in high-risk group (4.56‰, 1.65‰, 0.97‰, respectively) were significantly higher than that in low-risk group (0.12‰, 0.04‰, 0.09‰, respectively, all P<0.001) . The detection rates of prenatal screening were 70.15％, 68.00％ and 38.46％, and false positive rates were 5.23％ , 0.14％ and 0.34％ . Conclusion High risk of serum prenatal screening analysis is associated with adverse pregnancy outcomes. The number of pregnancies experienced invasive prenatal diagnosis can be reduced by routine serum prenatal screening. That is an Effective method to reduce the birth defects.
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Se reporta un nuevo signo ecográfico observado en un feto de 22 semanas portador de trisomía 18 o síndrome de Edwards, que consiste en hiperextensión permanente de ambos dedos índices (signo que le denominamos dedo puntero) asociado a artrogriposis de las muñecas. La relevancia del hallazgo está en que podría reconocerse como un marcador más en el tamizaje de esta patología.
A new ultrasound sign observed in a 22-week fetus with trisomy 18 or Edwards syndrome, consisting of permanent hyperextension of both index fingers (sign named "pointer finger"), and associated with arthrogryposis of wrists is reported. The relevance of this finding is that it could be recognized as another marker in the screening for this disease.
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Objective To investigate the value of plasma fetal free DNA in the screening of Down syndrome in pregnant women of advanced maternal age .Methods 298 cases of pregnant women of advanced maternal age in our hospital from February 2012 to May 2014 were chosen as the research object ,who experienced prenatal serological screening and fetal free DNA detection by high-throughput gene sequencing technology .According to the karyotype analysis of amniotic fluid/umbilical cord blood puncture ,we compared the detection efficiency of traditional serological screening and high-throughput noninvasive DNA detection for prenatal Down's syndrome screening in pregnant women of advanced maternal age ,and evaluated their sensitivity and specificity .Results 26 cases of high risk pregnant women were screened by using serological methods (positive rate was 8 .7% ) .Among them ,we found 20 cases of high risk pregnant women with Down syndrome (21-trisomy) (Tang screening positive rate was 6 .7% ) ,and 5 cases of 18-trisomy syndrome (1 .7% ) and 2 cases of 13-trisomy syndrome(0 .7% ) .9 cases of high risk pregnant women (positive rate was 8 .7% ) was detected with noninvasive DNA technology ,all within the range of serological screening results (positive rate was 3% ) .Among them ,there were 6 cases of high risk 21-trisomy (positive rate was 2% ) ,and 3 cases of high risk 18-trisomy (1% ) . High risk pregnant women were further verified by amniotic fluid/umbilical cord blood cell karyotype analysis .The results showed that there were 5 cases of 21-trisomy positive(1 .7% ) ,2 cases of 18-trisomy positive(0 .7% ) ,and 2 cases were normal(0 .7% ) .The sensitivity ,specificity and accuracy of serological screening were 100% ,93 .3% and 94 .9% respectively .The sensitivity ,specificity and accuracy of noninvasive DNA detection were 100% ,97 .9% and 99 .6% respectively .There were statistically significant differ-ences on the total positive rate ,Tang screen positive rate ,Tang screening false positive rate ,specificity and positive predictive value between the two methods (P<0 .05) .Conclusion Analysis of cffDNA using noninvasive DNA detection technique has a high sen-sitivity ,specificity and accuracy for DS screening in elderly patients ,and deserves clinical promotion .
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Objective To reduce the screening positive rate (SPR) and improve clinical efficiency of maternal serum screening for Down's syndrome.Methods Nine thousand and thirty-three cases of second trimester maternal serum screening for Down's syndrome were included from Apr.2013 to Apr.2014 in the present study.The screening results,all basic data and equation curves were analyzed retrospectively.Based on the data from the authors' laboratory,the important adjustment parameters were simulated.Combined with postnatal follow-up results,the quality and clinical performance of second trimester serum screening for Down's syndrome were evaluated.Results The SPR of second trimester serum screening for Down's syndrome was 6.69％(604/9033),the detection rate (DR) was 75％(3/4),and FPR was 6.65％(601/9033).The median multiple of median (MOM) of alpha-fetoprotein (AFP) was low and SPR was high,and MOM of free human chorionic gonadotropin β subunit (free hCGβ) were high and SPR was high,while MOM of unconjugated estriol (uE3) were a little bit low,and SPR was slightly high.Considering these three factors,it is believed that the screening positive rate is high.By the simulation adjustments of MOM value equations (AFP and free hCGβ) and weight correction equation,the SPR reduced to 4.11％(371/9033) after recalculating the risk,FPR declined to 4.07％(368/9033),and no more Down's syndrome fetus were missed compared with postnatal follow-up results.Conclusion Based on a localized setting depending on the local laboratory data,we suggest that the MOM value distributions(AFP,free hCGβ and uE3) and maternal weight should be regularly adjusted since it is a useful way to reduce the false-positive rate and improve clinical efficiency of maternal serum screening for Down's syndrome.
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Objective:To establish the median databases of serum markers for Down's syndrome screening during the second trimester of pregnancy women in the north-central area of Jiangxi Province.Methods:Time-resolved fluorometry was used to detect the serum contents of AFP free β-hCG and uE3 in 57 548 pregnant women during 15-20 gestational weeks.Risk evaluation was conducted by LifeCycle 4.0.SAS 9.2 software was used to establish a model of the median fitted equation.The newly constructed median system was used to reassess the risk of Down's syndrome development in pregnant women.Results:The medianand built in medianof north-central region in Jiangxi Province are significantly different (Z=2.201,P=0.028).The relationship between the median of the triple index and the gestational age was analyzed by the weight regression model.The relationship between the MoM value and the weight was used to calculate the reciprocal model.The median of the new system was more efficiency than the built in median.In the median of the new system than the reference,the detection rate improved from 62.75％ to 72.55％,false positive rate reduced by 5.84％ to 4.94％.Conclusion:The newly constructed median system is suitable for Down's syndrome screening in the north-central region of Jiangxi Province.
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Objective To investigate the dates of 477 Chinese prenatal screening centers for previous half year analyse prena-tal screening status and provide recommendations for quality control.Methods All China prenatal screening centers were sent the data via the National Quality Assessment Scheme.This covered the software used,the risk cut-offs,monthly sample throughput,monthly median MoM of AFP,hCG,β-HCG,freeβ-HCG and uE3,monthly screening positive rate for trisomy 21,trisomy 18 and Open Neural Tube Defect.Results Screening protocol were versatile,with 73.48% (133/181)used two-marker model,24.31% (44/181)used three-marker model and 2.21% used four-marker model.About the software used, 350 laboratories never updated the screening parameters,89 laboratories had updated their median or parameter by manufac-turers,24 laboratories had updated the parameters by themselves.Cut-offs differed between laboratories.59.91% (275/459) used 1/270 as their cutoffs for trisomy 21.66.22% (296/447)used 1/350 as their cutoff for trisomy 18 and 96.52% (361/374)used cutoffs between 2.0~2.5 MOM for ONTD.Results of monthly median MOM:the percentage of laboratories that all six monthly median MOM within the target of 0.90~1.10 was 46.69% (155/332)for AFP,20.0% (4/20)for hCG, 29.17% (28/96)forβ-HCG,15.66% (31/198)for freeβ-HCG and 4.82% (11/228)for uE3.The percentage of laborato-ries that all six monthly median MOM within the target of 0.95~1.05 was 14.16% (47/332)for AFP,0% (0/20)for hCG,4.17% (4/96)forβ-HCG,12.63% (25/198)for freeβ-HCG and 4.82% (11/228)for uE3.About screening positive rate,there were difference of trisomy 2 1 positive rate in the same laboratory within the six month.Conclusion There were variations types of screening protocol,different kinds of soft platform,randomness of choice or update of medians or other important parameters and great difference in awareness of quality control.It would be taken effective and practical quality control measures to help laboratories improve quality control.
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This paper comprehensively reviewed the practice and meanings of non-invasive prenatal test (NIPT) in China and discussed the ethical issues.NIPT,as a step of prenatal diagnosis,brought conflicting values and moral economic influences.Its widely application also imposes higher requirements on policy regulation and lead to some ethical issues,including whether the client really informed consent.Genetic counselling is also crucial before and after the test.However,the subjects,doctors and medical staff have not yet fully prepared.Furthermore,this technique is relatively simple and cheap,and its application relates to many aspects.It is necessary to discuss the influence at the early stage and put forward the ethical issues that need to be paid attention to.Therefore,life ethics expert participation is extremely important,and to some extent will leadfetal and maternal supervision,management and supervision to a new level,especially with the development of NIPT and the application of whole genome sequencing (WGS).
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<p><b>INTRODUCTION</b>Invasive prenatal diagnosis (IPD) has long been used to prenatally diagnose Down syndrome (DS), but it is associated with a small risk of miscarriage. Noninvasive prenatal testing (NIPT) is a highly sensitive screening test using cell-free DNA in maternal blood for detection of DS without the risk of miscarriage, but it confers a small risk of false-positive and false-negative results. The implementation of these procedures into clinical practice requires an understanding of stakeholder preferences.</p><p><b>METHODS</b>A total of 69 health professionals (HPs) and 301 women took part in a discrete choice experiment (DCE) in which preferences for four prenatal test attributes - accuracy, time of results, risk of miscarriage and amount of information provided - were assessed. Conditional logit regression was used to analyse the data. Data on demographics and ranked preferences for test attributes was collected, and a direct choice question regarding NIPT, IPD or neither test was posed to participants.</p><p><b>RESULTS</b>The women showed a preference for test safety, whereas HPs prioritised test accuracy above all other attributes. When offered a direct choice of NIPT, IPD or neither test, women aged 35 years and older, those with previous miscarriage or who knew a child with DS were more likely to choose NIPT. Chinese women preferred NIPT, whereas Indian women preferred IPD.</p><p><b>CONCLUSION</b>Our data highlights the need for patient-specific counselling, taking into account previous experiences and cultural factors. Since women and HPs prioritise different test attributes, it is essential that HPs recognise these differences in order to provide non-biased counselling.</p>
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Introduction: To review the gestational age at diagnosis, method of diagnosis, pregnancy outcome and maternal complications of prenatally diagnosed lethal foetal anomalies. Methods: Retrospective review of 25 women who had aborted or delivered foetuses with lethal anomalies in a tertiary hospital in 2011 based on patient medical records. Results: There were a total of 10,088 deliveries, in which 25 (0.24%) women were found to have conceived foetuses with lethal anomalies. All of them were diagnosed by prenatal ultrasound and only 7 (28.0%) had both prenatal ultrasound and genetic study done. The women’s mean age was 29.9 years old. The mean gestational age at diagnosis of lethal foetal anomalies was 25.5 weeks (SD=12.5) and mean gestational age at termination of pregnancy (TOP) or delivery was 28.5 weeks (SD=12.5). Seven (28%) women had early counseling and TOP at the gestation of < 22 weeks. Beyond 22 weeks of gestation, eight (32%) women had TOP and ten (40%) women had spontaneous delivery. Twenty (80%) women delivered or aborted vaginally, three (12%) women with assisted breech delivery and two (8%) women with abdominal delivery which were performed due to transverse foetal lie in labour and a failed induction, leading to emergency hysterotomy complicated by hysterectomy due to intraoperative finding of ruptured uterus. Overall, the associated post-partum adverse events included post-partum haemorrhage (12%), retained placenta (12%), blood transfusion (8%), uterine rupture (4%) and endometritis (4%). Mean duration of hospital stay was 6.6 days (SD 3.7 days). Conclusion: Late diagnosis of lethal foetal anomalies leads to various maternal morbidities, in this case series , which could have been prevented if they were diagnosed and terminated at early trimester. A new direction is needed in our local practice.
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Objective To explore the association between preeclampsia and the level of related screening markers during the first and second trimester. Methods The concentration of PAPP - A,free β - hCG of the pregnant women in the first trimester(from 10th to 13 + 6 th weeks)were detected. The concentration of AFP,free β - hCG and uE3 were detected by the same method in the second trimester(from 14th to 19 + 6 th weeks). Protein in the urine and blood pressure of the pregnant women was closely monitored during pregnancy,and the late pregnancy outcomes were followed up. The difference of the concentration of PAPP - A,free β - hCG in the first trimester and free β - hCG,AFP,uE3 in the second trimester between women with pregnancy hypertension and those without were analyzed. Results A total of 7 476 women accepted prenatal screening. There were 668 women developed pregnancy hypertension and the incidence rate was 8. 70% . And 260 women developed preeclampsia and the incidence rate was 3. 4% . There were 50 cases of early - onset preeclampsia and 210 cases of late - onset preeclampsia. The concentration of PAPP - A and free β - hCG of preeclampsia women, especially the early - onset preeclampsia women,were lower than those of normal women in the first trimester. In the early pregnancy diagnosis,accuracy of the area of early - onset preeclampsia under the ROC curve was 0. 823. There was no difference of concentration of free β - hCG,AFP,uE3 in the second trimester between women with or without preeclampsia (P > 0. 05). Conclusion The level of PAPP - A has a certain value for diagnosis of early - onset preeclampsia. Serum screening markers in the second trimester showed little clinical value on preeclampsia.
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Objective To explore the regional parameters of triple screening model of Down syndrome in the second trimester in Jinhua City.Methods A total of 20 232 second trimester pregnant women with single fetus (gestational age at 15 -20 +6 weeks)was enrolled,and their serum samples were determined by American Perkin Elmer company Auto DELFIA automatic time -resolved fluorescence immunoassay analyzer for Down syndrome screening with triple markers, namely AFP,free β-hCG and uE3 .The risks of Down syndrome were evaluated by Lifecycle 3.2 software.And the risks of Down syndrome were re -calculated by local statistical median equations.Pregnant women were suggested to receive amniotic fluid fetal karyotype analysis if the risk of Down syndrome were equal or above 1 /270.Results Local median marker levels were significantly higher than the software built -in median levels (P <0.01).Both true -positive detection rates (sensitivity)were 87.50%.The false positive rate of local median equations was 4.24%,while the built -in median equations was 4.74%.Conclusion There are significant differences on the race and region by using the LifeCycle 3.2 median equations.The local equations may lower the false positive rate.