Early warning of low maternal unconjugated estriol level by prenatal screening for fetus with X-linked ichthyosis / 中华妇产科杂志

Objective:To analyze the characteristic of prenatal serological screening in fetus with X-linked ichthyosis (XLI), and to explore the relationship between unconjugated estriol (uE 3) levels and XLI. Methods:A total of 56 fetuses with Xp22.31 microdeletion indicated by prenatal diagnosis and 70 fetuses diagnosed with trisomy 21 and 26 fetuses with trisomy 18 in Henan Provincial People's Hospital and Affiliated Hospital of Weifang Medical College from September 2016 to June 2021 were collected. The multiples of median (MoM) values of uE 3, alpha-fetoprotein (AFP), and human chorionic gonadotropin (hCG) during the second trimester of pregnancy were retrospectively analyzed. Prenatal diagnosis was made by amniotic fluid karyotype analysis and genome copy number variant analysis, parent genetic verification and pathogenicity analysis were performed, and maternal and infant outcomes were followed up. Results:Of 56 pregnant women with fetal Xp22.31 microdeletion, 43 underwent serological screening during the second trimester of pregnancy, of which 42 were abnormal (39 male fetuses and 3 female fetuses). The median uE 3 MoM value of 39 male fetuses [0.06 (0.00-0.21)] was lower than the normal value and significantly lower than that of fetuses with trisomy 21 [0.71 (0.26-1.27)] and fetuses with trisomy 18 [0.36 (0.15-0.84)], the difference was statistically significant ( Z=99.96, P<0.001). While the MoM values of AFP and hCG were all within the normal range. Among the 56 fetuses carrying Xp22.31 microdeletion, 45 were male fetuses and 11 were female fetuses, and the deletion fragments all involved STS gene. Eighty-nine percent (50/56) were inherited from mother (49 cases) or father (1 case), and 11% (6/56) were de novo mutations. Follow-up showed 48 live births (38 males and 10 females) and 8 chose to terminate pregnancy (7 males and 1 female). Among the 38 male newborns, 37 presented with scaly skin changes from 1 to 3 months of age, and one had no clinical manifestations until 4 months after birth. Ten female newborns had no obvious clinical manifestations. Conclusions:The decrease levels of uE 3 MoM on maternal serological screening is closely related to the higher risk of XLI in male fetuses. For pregnant women with low uE 3 in serological screening or with family history of ichthyosis, in addition to chromosomal karyotype analysis, joint detection of genomic copy number variant analysis should be recommended.

The Assessment of Vitamin D Levels in Pregnant Women is not Associated to Fetal Growth Restriction: A Cross Sectional Study / A avaliação dos níveis de vitamina D em gestantes não está associada à restrição do crescimento fetal: um estudo transversal

Abstract Objective To assess maternal serum levels of vitamin D in fetuses appropriate for gestational age (AGA), small for gestational age (SGA), and with fetal growth restriction (FGR) according to estimated fetal weight (EFW). Methods This cross-sectional study included 87 pregnant women between 26 and 36 weeks of gestation: 38 in the AGA group, 24 in the SGA group, and 25 in the FGR group. Maternal serum vitamin D levels were assessed using the chemiluminescence method. The Fisher exact test was used to compare the results between the groups. Results The mean ± standard deviation (SD) of maternal age (years) and body mass index (kg/m2) in the AGA, SGA, and FGR groups were 25.26 8.40 / 26.57 ± 4.37; 25.04 ± 8.44 / 26.09 ± 3.94; and 25.48 ± 7.52 / 26.24 ± 4.66, respectively (p > 0.05). The maternal serum vitamin D levels (mean ± SD) of the AGA, SGA, and FGR groups were 22.47 ± 8.35 ng/mL, 24.80 ± 10.76 ng/mL, and 23.61 ± 9.98 ng/mL, respectively, but without significant differences between the groups (p = 0.672). Conclusion Maternal serum vitamin D levels did not present significant differences among pregnant women with AGA, SGA, or FGR fetuses between 26 and 36 weeks of gestation according to EFW.

Resumo Objetivo Avaliar o nível sérico materno de vitamina D em fetos adequados para idade gestacional (AIG), pequenos para idade gestacional (PIG) e com restrição de crescimento (RCF) de acordo com a estimativa de peso fetal (EPF). Métodos Realizou-se um estudo transversal envolvendo 87 gestantes entre 26 e 36 semanas, sendo: 38 do grupo AIG, 24 do grupo PIG e 25 do grupo RCF. A dosagem sérica materna de vitamina D foi realizada pelo método de quimiluminescência. Para as comparações entre os grupos, utilizou-se o teste exato de Fisher. Resultados A média ± desvio-padrão (DP) da idade materna (anos) e do índice de massa corporal (kg/m2) nos grupos AIG, PIG e RCF foram 25,26 ± 8,40 / 26,57 ± 4,37; 25,04 ± 8,44 / 26,09 ± 3,94; e 25,48 ± 7,52 / 26,24 ± 4,66, respectivamente (p>0,05). A concentração sérica materna de vitamina D (médias ± desvios-padrão) dos grupos AIG, PG e RCF foram 22,47±8,35 ng/ml; 24,80_10,76 ng/ml; e 23,61 ± 9,98 ng/ml, respectivamente, contudo, sem diferenças significativas entre os grupos (p=0,672). Conclusão A concentração sérica materna de vitamina D não apresentou diferenças significantes entre gestantes com fetos AIG, PIG ou RCF entre 26 e 36 semanas de acordo com a EPF.

Prevalence of vitamin D deficiency in pregnancy and its relation with adverse pregnancy outcome

Background: Vitamin D deficiency is widely prevalent in all parts of the world. Pregnant women and neonates are highly vulnerable to vitamin D deficiency. Pregnant women receive very less amount of sunlight especially in parts of Southeast Asia due to traditional norms and customs. A strong positive correlation was found between low maternal vitamin D levels with gestational hypertension/preeclampsia, gestational diabetes mellitus, preterm labour, low birth weight, intra uterine growth restriction, neonatal intensive care unit admission and Apgar score. Therefore, the present study was designed to know the prevalence of vitamin D deficiency in pregnant females and to evaluate adverse effects associated with it.Methods: Total 250 nulliparous pregnant females attending Tirath Ram Shah Hospital for delivery and carrying a viable (>/28 weeks) singleton pregnancy were selected. Women with serum 25-hydroxy vitamin D level <10 ng/ml, 10-20 ng/ml and <20 ng/ml, were diagnosed as vitamin D deficient, insufficient and sufficient groups respectively and the adverse outcomes was correlated.Results: In this study, out of 250 cases, 159 cases (63.6%) had vitamin D deficiency, 43 cases (17.2%) had insufficiency, and 48 cases (19.2%) had sufficient vitamin D levels (vitamin D ≥20 ng/ml). And, Vitamin D deficiency was associated with preeclampsia, preterm labour and increased risk of caesarean section.Conclusions: This study indicates that vitamin D deficiency is highly prevalent in pregnant females thus implicating the need of a uniform strategy of vitamin D supplementation to pregnant females.

Concentrations of Polybrominated Diphenyl Ethers in Maternal Blood, Placental Size, and Risk for Fetal Growth Restriction: A Nested Case-control Study / 生物医学与环境科学（英文）

Objective@#To explore the effects of prenatal exposure to polybrominated diphenyl ethers (PBDEs) on placental size and birth outcomes.@*Methods@#Based on the perspective Wenzhou Birth Cohort, this nested case-control study included 101 fetal growth restriction (FGR) and 101 healthy newborns. Maternal serum samples were collected during the third trimester and measured for PBDEs by gas chromatography tandem mass spectrometry. The basic information of mother-newborn pairs was collected from questionnaires, whereas the placental size and birth outcomes of newborns were obtained from hospital records.@*Results@#A total of 19 brominated diphenyle ether (BDE) congeners were detected in maternal serum samples. Higher concentrations of BDE-207, -208, -209, and ∑ @*Conclusion@#A negative association was found between PBDE levels in maternal serum and placental size and birth outcomes. Prenatal PBDE exposure may be associated with elevated risk of the incidence of FGR birth.

The study of association between maternal serum magnesium levels and preterm labour in a tertiary care hospital

Background: Serum magnesium level in pregnancy is a valuable tool to find out preterm onset of labour. In the asymptomatic group, greater surveillance and administration of steroids, tocolytics and transfer to a higher centre wherever necessary has to be done with mothers with low serum magnesium level. The objective of the study is to find association between serum magnesium levels and women with preterm labour, and to compare these values with those patients who have a term delivery.Methods: The subjects included 100 pregnant women with preterm labour (cases) between 28 and 37 weeks gestation (Group A) and similar number of pregnant women with term labour (controls) between 37 and 40 weeks (Group B). Inclusion criteria for cases was singleton pregnancy, painful uterine contractions more than two in 30 minutes, intact fetal membranes, cervical dilatation (at least 1 cm) and effacement (80%). Serum magnesium levels were done in both the groups. Patients were followed until delivery. Routine antenatal investigations were done. Serum levels of magnesium were estimated by Erba’s semi auto-analyser.Results: 62% patients in Group A were from rural areas. More patients in Group A (70%) were from low socioeconomic class. More women in Group A were anaemic (44%). Mean value of hemoglobin in Group A was 9.93gm/dL. More patients in Group A had muscle cramps (89%). VLBW (<1500gm) neonates were more in Group A (21%). Also, LBW (1500-2499gm) neonates were more in Group A (60%). Mean neonatal birth weight in Group A (1907.3gm) was less. Neonatal morbidity and mortality was observed significantly more in Group A. Mean serum magnesium was less in Group A. Mean serum magnesium levels in primi and multigravida patients were less in Group A. Moreover, mean serum magnesium levels were less in urban and rural patients in Group A. Mean serum magnesium levels were less in normal and overweight patients in Group A. Also, mean serum magnesium levels were less in patients with cervical dilatation <3cm and >3cm in Group A.Conclusions: Low maternal serum magnesium level is associated with preterm labour. Patients with preterm labour have significantly low serum magnesium level when compared with labour at term.

First-trimester combined screening test for aneuploidies in brazilian unselected pregnancies: diagnostic performance of fetal medicine foundation algorithm / Rastreio combinado do primeiro trimestre para aneuploidias em gestantes brasileiras não selecionadas: desempenho diagnóstico do algoritmo da Fetal Medicine Foundation

Abstract Objective The main objective of this study was to examine the diagnostic performance of the first-trimester combined test for aneuploidies in unselected pregnancies from Rio de Janeiro and compare it with the examples available in the literature. Methods We investigated 3,639 patients submitted to aneuploidy screening from February 2009 to September 2015. The examination is composed of the Fetal Medicine Foundation risk evaluation based on nuchal translucency evaluation, mother's age, presence of risk factors, presence of the nasal bone and Doppler of the ductus venous in addition to biochemical analysis of pregnancy-associated plasma protein A (PAPP-A) and beta-human chorionic gonadotropin (β-hCG) markers. The cut-off point for high risk for aneuploidies was defined as greater than 1:100, with intermediate risk defined between 1:100 and 1:1,000, and low risk defined as less than 1:1,000. The variable aneuploidy was considered as a result not only of trisomy of chromosome 21 but also trisomy of chromosomes 13 and 18. Results Excluding the losses, the results of 2,748 patients were analyzed. The firsttrimester combined test achieved 71.4% sensitivity with a 7.4% false-positive (FP) rate, specificity of 92.6%, positive predictive value (PPV) of 6.91% and negative predictive value (NPV) of 99.76%, when the cut-off point considered was greater than 1:1,000. Through a receiving operating characteristics (ROC) curve, the cut-off point that maximized the sensitivity and specificity for the diagnosis of aneuploidies was defined as 1:1,860. When we adjusted the false-positive (FP) rate to 5%, the detection rate for this analysis is 72.7%, with a cut-off point of 1:610. Conclusion The combined test of aneuploidy screening showed a detection rate inferior to those described in the literature for a higher FP rate.

Resumo Objetivo O objetivo principal deste estudo foi examinar o desempenho diagnóstico do rastreio combinado de aneuploidias do primeiro trimestre em gestações não selecionadas do Rio de Janeiro e compará-lo com os exemplos disponíveis na literatura. Métodos Investigamos 3.639 pacientes submetidas à triagem para aneuploidia, de fevereiro de 2009 a setembro de 2015. O exame é composto pela avaliação do risco da FetalMedicine Foundation combase na avaliação da translucência nucal, idade da mãe, presença de fatores de risco, presença de osso nasal e Doppler do ducto venoso, além da análise bioquímica dos marcadores proteína A plasmática associada à gravidez (PAPP-A) e gonadotrofina coriônica humana-beta (β-hCG). O ponto de corte para alto risco de aneuploidias foi definido como superior a 1:100, para risco intermediário foi definido entre 1: 100 e 1: 1.000 e para baixo risco foi definido como inferior a 1:1.000. A variável aneuploidia foi considerada não apenas como resultado da trissomia do cromossomo 21, mas também da trissomia dos cromossomos 13 e 18. Resultados Excluindo as perdas, foram analisados os resultados de 2.748 pacientes. O teste combinado do primeiro trimestre alcançou 71,4% de sensibilidade com uma taxa de falsos positivos (FPs) de 7,4%, especificidade de 92,6%, (valor preditivo positivo) VPP de 6,91% e (valor preditivo negativo) VPN de 99,76%, quando o ponto de corte considerado foi maior que 1:1.000. Através de uma curva de característica de operação do receptor (COR), o ponto de corte que maximizou a sensibilidade e especificidade para o diagnóstico de aneuploidias foi de 1:1.860. Quando corrigimos a taxa de FP para 5%, a taxa de detecção para esta análise é de 72,7%, com um ponto de corte de 1:610. Conclusão O rastreio combinado de aneuploidia mostrou uma taxa de detecção inferior à descrita na literatura para uma maior taxa de FP.

Proteins of neural tube defects / 国际儿科学杂志

Neural tube defects(NTD)are a common congenital malformations in humans leading to in-fant mortality or severe disability.The etiology of NTD is complicated,with both environmentaland genetic con-tributions.It has been found that the protein markers associated with NTD are mainly maternal serum alpha feto-protein,amniotic fluid alpha fetoprotein and amniotic fluid glial fibrillary acidic protein.This article reviews the protein biomarks related with NTD.

Management of syphilis in pregnant womenand their newborns: is it still a problem? / Manejo de sífilis em gestantes e seus recém-nascidos: ainda um problema?

A sífilis congênita (SC) é um agravo prevenível, mas o Brasil ainda apresenta alta prevalência da doença, com consequente morbimortalidade perinatal. Objetivo: Avaliar a abordagem de sífilis em gestantes e seus recém-nascidos encaminhados para centro de referência. Métodos: Estudo transversal, de março de 2012 a abril de 2013. A coleta de dados foi realizada em prontuários de pacientes referenciados com SC, considerando critérios estabelecidos pelo Ministério da Saúde (MS). Os dados foram analisados pelo Statistical Package for the Social Sciences (SPSS) e o estudo foi aprovado pelo Comitê de Ética. Resultados: Um total de 31 recém-nascidos foi encaminhado devido à triagem materna com Venereal Disease Research Laboratory(VDRL) materno positivo durante a gestação, com 4 mulheres adequadamente tratadas. Treze recém-nascidos apresentaram alteração no hemograma e1 apresentou alteração óssea, 28 deles com tratamento adequado. Discussão: Quando se considera adequação de tratamento de acordo com as diretrizes nacionais, poucos casos de sífilis na gestação são considerados adequadamente tratados. Isso impacta na assistência ao recém-nascido, que, muitas vezes,é submetido a propedêutica invasiva e tratamento extenso, embora na maioria das vezes seja assintomático. Conclusão: O seguimento das recomendações para o tratamento da sífilis na gestante tem sido, frequentemente, considerado inadequado, o que dificulta a eliminação da SC.

Congenital syphilis (CS) is a preventable disease, but its prevalence is still high in Brazil, with consequent perinatal morbidity and mortality.Objective: To evaluate the approach of syphilis in pregnant women and their newborns referred to the referral center of Orestes Diniz, in Belo Horizonte.Methods: A cross-sectional study was carried out from March 2012 to April 2013. Data collection was performed on the medical records of patients referred with CS, considering the criteria established by the Ministry of Health. Data were analyzed using SPSS and the study was approved by the Ethics Committee. Results: A total of 31 newborns were referred due to a positive result in maternal testing with Venereal Disease Research Laboratory during pregnancy. However, only four women have been adequately treated in accordance with the Ministry of Health. Thirteen newborns presented alterations inblood cells count, one had bone rarefactions, and 28 presented proper information of treatment. Discussion: When considering the adequacy of treatmenta ccording to the national guidelines, few cases of syphilis during pregnancy can be considered adequately treated. This affects the assistance to the newborn,who is often subjected to invasive investigation and extensive treatment, although most are asymptomatic. Conclusion: The follow-up of recommendations for the treatment of syphilis in pregnant women has often been considered inadequate, making CS difficult to eliminate

STUDY ON 10 668 CASES OF SECOND-TRIMESTER MATERNAL SERUM SCREENING / 现代医院

Objective To evaluate the clinical value of prenatal screening by analyzing the second -trimes-ter maternal serum screening results and prognosis .Methods The second-trimester maternal serum screening in-cluding alpha-fetoprotein (AFP) andβ-human chorionic gonadotrophin (β-HCG) was tested by time-resolu-tion immunofluorescence .2T-Risks software was used to evaluate fetal risk of three kinds of defects , such as trisomy 21, trisomy 18 and neural tube defects (NTD).For those of pregnant women with high -risk screening results, am-niotic fluid, umbilical cord blood karyotype analysis or four -dimensional color Doppler ultrasound scan can be rec-ommended to confirm the diagnosis .Results This research included the analysis of 10 668 cases of pregnant meta-phase prenatal screening results .677 cases were in high-risk, which took up 6.35%.Among those 677 cases, 501 cases had high-risk 21-trisomy Syndrome , and 104 cases had high-risk NTD.72 cases with high-risk 18-tri-somy Syndrome had been found , and the percentage of those cases above were 4.70%, 0.97%and 0.67%, respec-tively.As for the 677 follow-up pregnant women with high risks , the results indicated that during those 356 high-risk women, who had performed prenatal diagnosis , 2 cases of 21-trisomy Syndrome, 3 cases of NTD, and 4 cases of structural abnormalities had been found .In addition , there were 19 cases of spontaneous abortion and stillbirth , as well as 10 cases of other abnormalities .There are 40 abnormal cases in total , which took up an abnormal percentage of 5.91%.In those 9 991 follow-up pregnant women with low risks , there are 57 cases (0.57%) presented abnor-mal, in which had 1 cases with 21-trisomy Syndrome, 2 cases with NTD, 3 cases with deformity, 23 cases of spon-taneous abortion and stillbirth and 28 other abnormal cases .Conclusion The second -trimester maternal serum screening plays an important clinical role in the prediction of abnormal fetus and prevention of birth defects .

The relationship between total IgE and atopic dermatitis in maternal serum and neonatal umbilical cord blood and allergen testing / 天津医药

Objective To explore the correlation of total IgE and childhood atopic dermatitis (AD) in maternal serum and newborn cord blood, as well as its clinical significance of allergen testing. Methods Thirty-five cases diagnosed as AD (AD group) were selected, and other 35 children who were not diagnosed as AD (control group) were randomly selected from a birth cohort established in 2009—2011. The total IgE levels were detected by ELISA in maternal serum and newborn cord blood. The serum specific IgE antibody level was detected by quantitative immunoblotting method. Results The serum total IgE level was significantly higher in mother and newborn cord blood in AD group than that in control group (χ2=16.568 and 14.933, P<0.01). Compared to control group, there was a significantly higher positive rate of mother serum allergen includ?ing dust mites, house dust, ragweed pollen, song kind of pollen, poplar, surname and elm pollen, mould, shrimp, marine fish, in AD group (P<0.05). There was a significantly higher positive rate of artemisia pollen and fungi IgE in newborn cord blood in AD group (P<0.05). Conclusion The increased total IgE in maternal serum may play a predictive effect on infants suf?fering from AD. There is no obvious consistency in allergic state between mothers and infants.

Non-invasive prenatal test using cell free DNA

Although conventional prenatal screening tests for Down syndrome have been developed over the past 20 years, the positive predictive value of these tests is around 5%. Through these tests, many pregnant women have taken invasive tests including chorionic villi sampling and amniocentesis for confirming Down syndrome. Invasive test carries the risk of fetal loss at a low but significant rate. There is a large amount of evidence that non-invasive prenatal test (NIPT) using cell free DNA in maternal serum is more sensitive and specific than conventional maternal serum and/or ultrasound screening. Therefore implementing NIPT will increase aneuploidy detection rate and concurrently decrease fetal loss rate accompanying invasive test. More than 1,000,000 NIPT were performed globally since 2011. The uptake rate of NIPT is expected to increase more rapidly in the future. Moreover, as a molecular genetic technique advances, NIPT can be used for not only common aneuploidy screening but single gene disorder, microdeletion, and whole fetal genome sequencing. In this review, I will focus on the NIPT for common aneuploidies such as trisomy 13, 18, and 21.

A study on the regional parameters of triple screening model of Down syndrome in the second trimester in Jinhua City / 预防医学

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.

Los microRNA: una herramienta que podría ser usada como biomarcadores de la corticogénesis fetal / MicroRNA: a tool that can be used as a fetal corticogenesis biomarker

Los microRNA son RNA pequeños no codificantes que regulan la traducción de RNA mensajeros. En el tejido cerebral de mamífero, existe una regulación temporal de los niveles de estas moléculas durante el desarrollo, los cuales están relacionados directamente con momentos específicos en la formación del sistema nervioso central y tienen un papel trascendental en la citoarquitectura cerebral. Existe una gran cantidad de deficiencias y/o alteraciones de las funciones cerebrales que no pueden ser explicadas por causas genéticas o detectadas por los métodos convencionales, por lo que es de gran importancia identificar marcadores moleculares no invasivos de problemas sutiles relacionados con alteraciones en la diferenciación, proliferación, muerte celular u organización del tejido nervioso que puedan tener consecuencias negativas en la vida postnatal del producto, principalmente en el área cognitiva, motora y social. Una alternativa es la búsqueda y determinación de los niveles de microRNA involucrados en la corticogénesis fetal en suero materno. Aquí revisaremos algunas de las características de estas moléculas que las hacen buenas candidatas para ser consideradas como biomarcadores del desarrollo cerebral fetal, entre las que se encuentran la forma en que se sintetizan y llegan al torrente sanguíneo, su estabilidad, su patrón de expresión durante la corticogénesis y su presencia en el suero materno.

MicroRNAs are small non-coding RNAs that regulate the translation of messenger RNA into proteins. During the development of the mammalian brain tissue, there is a temporal regulation of the levels of these molecules, which are directly related to specific stages in the formation of the central nervous system; microRNAs play a major role in brain cytoarchitecture. There are multiple alterations in brain function that cannot be explained by genetic causes or detected by conventional methods; for this reason, it is very important to identify molecules that can be proposed as biomarkers in a noninvasive way for pathologies related to alterations upon cell differentiation, proliferation and death or brain tissue organization that may have negative consequences in postnatal life and that can potentially lead to cognitive, motor and social deficits. An alternative is determining the microRNA levels involved in fetal corticogenesis in the maternal serum. In this article, we review some characteristics of these molecules that make them candidates to be proposed as biomarkers of fetal brain development, such as the pathway throught which they are synthesized and released into the bloodstream, their stability, their expression pattern during corticogenesis and their presence in the maternal serum.

A meningomyelocele with normal intracranial signs on ultrasound and false-negative amniotic fluid alpha-fetoprotein and acetylcholinesterase

Neural tube defects are the major targets of prenatal diagnoses, along with Down syndrome. Prenatal diagnosis of spina bifida is possible at second trimester of gestation through alpha-fetoprotein and acetylcholinesterase biochemistry assays and ultrasound. In particular, the discovery of characteristic intracranial signs on ultrasound leads to a very high diagnosis rate. However, it is rare for spina bifida to present without intracranial signs while also showing normal values of maternal serum alpha-fetoprotein, amniotic fluid alpha-fetoprotein, and acetylcholinesterase. In our hospital, a fetus with spina bifida was delivered at 37+5 weeks' gestation by cesarean section, and was continually followed up over 2 years to date.

Effect of Raised Mid-trimester Serum hCG and a-fetoprotein on Pregnancy Outcome.

Objective: To study the effect of elevated maternal serum human choriogonadotrophin (MShCG) levels and maternal serum a-fetoprotein (MSAFP) levels measured at 14-24 weeks gestation on pregnancy outcome. Material and methods: A prospective study was conducted in 400 antenatal women with gestational age 14-24 weeks attending OPD and Indoor in Dept. of Obstetrics and Gynecology over a period of 12 months. Maternal serum b-hCG and a-fetoprotein levels were measured by fully automated chemiluminesence method. Result: Elevated mid-trimester MShCG levels and MSAFP level were associated with development of pre-eclampsia. Conclusion: Elevated mid-trimester MShCG and MSAFP level may help in the prediction of pre-eclampsia and hence they can be used as screening tools for prediction of pre-eclampsia.

Triploidy in a fetus following amniocentesis referred for maternal serum screening test at second trimester.

Amniocentesis was carried out at 17 weeks gestation in a 27-year-old woman, following an abnormal maternal serum screening (MSS) test. MSS test was carried out primarily to estimate the risk of trisomy for chromosome 21. The maternal serum markers used were alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated estriol (uE3), together with maternal age. The fetus was identified as screen-positive for Edward’s syndrome (trisomy 18), with low uE3, normal AFP and hCG levels. The calculated risk for trisomy 18 was more than 1:50. To identify any possible chromosomal abnormality, cytogenetic investigation was carried out on the amniotic fluid sample. The fetus’s karyotype showed triploidy with 69, XXX chromosome complement in all the metaphase spreads obtained from three different cultures, using GTG banding technique. Upon termination of the fetus, gross abnormalities indicative of triploidy were present in the fetus.

Integrated Test for Screening in Down Syndrome as a Predictor of Adverse Pregnancy Outcomes

PURPOSE: To assess the value of first-trimester pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and second-trimester alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A in predicting pregnancy complications other than fetal aneuploidy. MATERIALS AND METHODS: A retrospective study in 3,121 singleton pregnancies with integrated testing was performed at Kangnam CHA hospital between January 2005 and December 2006. Baseline characteristics, pregnancy outcomes, and serum marker levels were obtained by review of the medical records. We analyzed the data to identify associations between the integrated screening markers and adverse pregnancy outcomes. Statistical analyses were performed with the SPSS program. RESULTS: In preterm labor and preeclampsia, high AFP, hCG, and inhibin-A levels and low PAPP-A and NT levels were found to be significantly correlated (P<0.05). Elevated second-trimester inhibin- A levels were associated with preeclampsia (odds ratio 2.843), low birth weight (odds ratio 1.446), and preterm labor (odds ratio 1.287), and while decreased first-trimester PAPP-A levels were associated with preeclampsia (odds ratio 0.51) and preterm labor (odds ratio 0.75). CONCLUSION: First- and second-trimester maternal serum markers screening can be used for predicting high-risk pregnancies.

Recent Trends in Prenatal Diagnosis of Fetal Malformations

The frequency of fetal malformations accounts for around 3~5% and evaluation of the health of the fetus and screening for fetal malformations has become an important part of prenatal care. Fetal malformations can be classified into structural and chromosomal abnormalities. Improvements in prenatal diagnosis have allowed identification of malformations in fetuses during the first and second trimesters of pregnancy. In prenatal diagnosis, both screening and diagnostic procedures are included. Screening tests include maternal serum aneuploidy screening tests, which are double marker test, triple test, and quadruple test. Recently, first trimester combined ultrasound-biochemical screening and integrated screening were introduced and provided higher detection rates of chromosomal anomalies (ex. Down syndrome). Diagnostic tests are usually performed when screening results are positive and they include chorionic villus sampling, amniocentesis, and percutaneous fetal blood sampling. With highresolution ultrasound equipment, it is now possible to diagnose most structural abnormalities prenatally. On top of that, recent advances in 3D/4D ultrasound have allowed better understanding of fetal anatomy. However, when ultrasound is equivocal, fetal MRI also can be a useful adjuvant in evaluating fetal structural anomalies. Advances in prenatal diagnostic testing have resulted in tremendous benefits to patients and challenges to healthcare providers and new approaches to education and counseling are needed to assure that all patients receive a complete and balanced review of their prenatal diagnostic testing options. This article provides an overview of various screening and diagnostic methods for prenatal diagnosis of fetal malformations.

Changes in lipid peroxidation and protein oxidation by antibiotic therapy in the maternal venous plasma of preterm premature rupture of membranes / 대한산부인과학회지

OBJECTIVE: To investigate and compare the amount of the lipid peroxidation and the protein carbonyls formation in maternal venous plasma of preterm premature rupture of membranes (PPROM) during antibiotics administration. METHODS: PPROM were selected between 25 and 32 weeks of gestation. Eighteen patients (group 1) were treated with amoxicillin and erythromycin for 7 day period, 18 patients (group 2) were treated with 3rd generation cephalosporin (cefodizime, cefditoren) and erythromycin for the same period. Maternal blood were obtained from the two groups before and after the antibiotics administration, day 3 and day 7. Lipid peroxidation levels and protein carbonyl contents were measured by thiobarbituric acid reaction and 2,4-dinitrophenyl hydrazine method. Other 18 women with normal pregnancy between 25 and 32 weeks of gestation of venous blood were checked same things in vitro. Interleukin (IL) -6 was measured by enzyme-linked immunosorbent assay. RESULTS: 1. The lipid peroxidation levels and protein carbonyls formation in the maternal venous plasma of PPROM was significantly higher than that of normal pregnancy (lipid peroxidation levels; 4.77+/-.36 vs 7.11+/-.41 nmol/mg protein, P<001, protein carbonyls formation; 3.55+/-.22 vs 5.69+/-.30 nmol/mg protein, P<001). 2. There were no significant differences in the lipid peroxidation levels and protein carbonyls formation of the maternal venous plasma with PPROM mixed and incubated by amoxicillin, cefodizime, cefditoren, and erythromycin (in vitro). 3. There were no significant differences in the lipid peroxidation levels and protein carbonyls formation of the venous plasma of group 1 between before and after antibiotics administration, day 3 and day 7. 4. There were no significant differences in the lipid peroxide levels of the venous plasma of group 2 between before and after antibiotics administration, day 3 and day 7. 5. The protein carbonyls formation in the venous plasma of group 2 was significantly decreased at day 3 and day 7 after antibiotics administration than that of before (6.04+/-.44 and 5.53+/-.37 vs. 7.04+/-.51 nmol/mg protein, P<005). 6. The levels of IL-6 in the venous plasma of group 2 was significantly decreased at day 7 after antibiotics administration than that of before (7.50+/-.35 vs. 3.13+/-.37 pg/mL, P<005). CONCLUSION: In the maternal venous plasma of PPROM, the lipid peroxidation levels and protein carbonyls formation were increased. The formation of protein carbonyls and IL-6 in the maternal blood of PPROM was decreased by combined treatment of 3rd generation cephalosporin and erythromycin. The results suggest that reactive oxygen species formation by inflammatory reaction is suppressed by the 3rd generation cephalosporins and erythromycin combined treatment.