RESUMO
The objective of the study was to compare the maternal and foetal outcomes of pregnancies complicated by Hb H-constant spring (HbH-CS) disease/deletional HbH (HbH-del) disease and low-risk pregnancies. A retrospective cohort research was undertaken on singleton pregnancies with Hb H-CS and Hb H-del diseases. The controls were randomly selected with a control-to-case ratio of 10:1. A total of 55 cases of HbH-CS disease, 231 cases of HbH-del disease and 2860 controls were compared. The mean gestational age at delivery and birthweight were significantly lower in the HbH-CS group than in the HbH-del and control groups. The clinical course of Hb H-CS was more severe than that of HbH-del disease. The rates of preterm birth, foetal growth restriction and low birthweight were significantly increased in the HbH-CS and Hb H-del groups. These rates were significantly greater in the HbH-CS group than in the H-del group. The maternal outcomes were not significantly different among the three groups. In conclusion, pregnancy worsens the course of HbH disease, more noticeably in HbH-CS disease. Hb H disease significantly increases the risk of adverse foetal outcomes, more noticeably in the HbH-CS group. Pregnancy is relatively safe for women with HbH disease.
Assuntos
Antígenos de Grupos Sanguíneos , Nascimento Prematuro , Talassemia alfa , Peso ao Nascer , Feminino , Hemoglobina H , Humanos , Recém-Nascido , Gravidez , Nascimento Prematuro/epidemiologia , Estudos RetrospectivosRESUMO
INTRODUCTION: Prenatal diagnosis of thalassemia disease was usually based on invasive technique. Noninvasive diagnosis using cell-free fetal DNA (cff-DNA) was described with various laboratory techniques. The aim of this study was to identify the performance of dPCR for analyzing cff-DNA in maternal plasma to diagnose fetal beta-thalassemia diseases. METHODS: Thirty-five couples at risk of fetal beta-thalassemia disease caused by four common mutations of HBB were enrolled at 12-18 weeks. The dPCR assay was designed to detect and quantify paternally inherited beta-thalassemia allele (PIB) and maternally inherited beta-thalassemia allele (MIB) from cff-DNA in maternal plasma. RESULTS: Of 29 couples with different paternal/maternal mutations, all cases who inherited paternal mutation had detectable PIB-M. The MIB-mutant/wild-type (MIB-M/MIB-N) ratio in the mothers whose fetuses did not inherit maternal mutation was 0.87 ± 0.07 which was significantly lower than that of the mothers whose fetuses inherited maternal mutation, 1.01 ± 0.05. The sensitivity and specificity of MIB-M/MIB-N ratio >0.95 in predicting fetus inheriting maternal mutation were 100 and 92.3%, respectively. In four couples with same paternal/maternal mutation, IB-M/IB-N ratio of >0.95 correctly predicted the presence of an inheritance of at least one beta-thalassemia allele. In two couples with paternal Hb E/beta-thalassemia, the presence of PIB-M and the MIB-M/MIB-N ratio of >0.95 correctly predicted the presence of paternal/maternal mutations, respectively. CONCLUSIONS: The method of analyzing cff-DNA in maternal plasma by dPCR is efficient for prenatal diagnosis of beta-thalassemia.
Assuntos
Ácidos Nucleicos Livres , Doenças Fetais , Teste Pré-Natal não Invasivo , Talassemia beta , Gravidez , Feminino , Humanos , Talassemia beta/diagnóstico , Talassemia beta/genética , DNA/análise , Diagnóstico Pré-Natal/métodos , Feto/química , Doenças Fetais/diagnóstico , Reação em Cadeia da Polimerase/métodosRESUMO
INTRODUCTION: Hemoglobin H-Pakse (Hb H-PS) disease is a variant of non-deletional Hb H disease associated with various degrees of anemia. The disorder is rare but commonly seen in Southeast Asia. However, the prenatal course of Hb H-PS disease has never been published. The objective of this report was to describe prenatal diagnosis and management of Hb H-PS disease, which is theoretically much more critical in fetal life than adult life. CASE PRESENTATION: The prenatal courses of two fetuses affected by Hb H-PS were comprehensively explored. Both of them showed sonographic signs of fetal anemia at 19-20 weeks of gestation (increased cardiac size and increase middle cerebral artery peak systolic velocity [MCA-PSV]). On follow-up scans, both revealed frank hydropic signs at 22-24 weeks. One fetus died at 24 weeks, shortly before the scheduled intrauterine blood transfusion (IUT). The other one underwent IUT at 22 weeks, leading to completely reversed hydropic signs, which resulted in successful outcomes that ended with the delivery of a healthy baby at term. The fetus needed only one IUT, and the course of anemic status improved in late pregnancy. IUT in this case was possibly beneficial to adult life. CONCLUSION: Fetuses with Hb H-PS may be associated with hydrops fetalis, usually occurring at mid-pregnancy. The hydrops tends to improve in late gestation. If they can pass through this most critical period in utero without anemic insults in developing organs, good long-term prognosis can be expected. This successful prenatal diagnosis and intrauterine treatment may encourage care providers to pay more attention to fetal Hb H-PS disease, to prevent anemic hypoxia in developing organs and adult diseases of fetal origin.
Assuntos
Anemia , Doenças Fetais , Feminino , Adulto , Gravidez , Humanos , Hidropisia Fetal , Hemoglobina Fetal , Ultrassonografia Pré-Natal , Doenças Fetais/terapia , Anemia/terapia , Transfusão de Sangue Intrauterina , Artéria Cerebral Média/diagnóstico por imagem , Velocidade do Fluxo SanguíneoRESUMO
OBJECTIVE: To assess the amniocentesis-related pregnancy loss rate and preterm birth rate among twin pregnancies undergoing amniocentesis. METHODS: A retrospective cohort study was conducted at a tertiary center. The study group included twin pregnancies undergoing amniocentesis during 16 to 22 weeks of gestation. The control group was those not undergoing amniocentesis. All amniocenteses were performed by the MFM specialists. The main outcomes were the rate of pregnancy loss (before 24 weeks) and preterm birth. RESULTS: A total of 332 cases in the study group and 1188 controls were analyzed. The percentages of maternal age ≥35 years, high parity, and cases complicated with medical diseases were significantly higher in the study group. The pregnancy loss rate after the procedure tended to be higher, but not significant, in the study group (3.0% vs 2.2% P = .383). Likewise, the rate of preterm birth in the study group was higher, but not significant (70.5% vs 66.0% P = .130). Logistic regression analysis to adjust confounding factors showed no significance of amniocentesis on pregnancy loss and preterm birth. CONCLUSION: Though amniocentesis in twin pregnancies has theoretical risk of pregnancy loss, it is relatively safe when performed by maternal-fetal medicine specialists. This information is useful for counseling, especially when performed by experienced hands.
Assuntos
Amniocentese , Resultado da Gravidez/epidemiologia , Gravidez de Gêmeos/estatística & dados numéricos , Aborto Espontâneo/epidemiologia , Aborto Espontâneo/etiologia , Adulto , Amniocentese/efeitos adversos , Amniocentese/estatística & dados numéricos , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Humanos , Gravidez , Segundo Trimestre da Gravidez , Nascimento Prematuro/epidemiologia , Nascimento Prematuro/etiologia , Estudos Retrospectivos , Fatores de Risco , Tailândia/epidemiologiaRESUMO
BACKGROUND: To identify the relationship between quadruple test for aneuploidy screening (alpha-fetoprotein: AFP; free beta-human chorionic gonadotropin: b-hCG; unconjugated estriol: uE3 and inhibin-A: IHA) and fetal growth restriction and to construct predictive models for small-for-gestational-age (SGA) fetuses. METHODS: Women who underwent quadruple test for aneuploidy were followed-up for final outcomes. The multiples of the median (MoMs) of the four biochemical markers for the SGA group and those of normal fetuses were compared. The models for predicting SGA by the individual biomarkers and their combination were constructed using binary logistic regression analysis, and their diagnostic performances in predicting SGA were determined. RESULTS: Of 10,155 eligible pregnant women, 578 (5.7%) and 9577 (94.3%) had SGA and normal growth, respectively. High levels of AFP, b-hCG and IHA but low levels of uE3 significantly increased the risk of SGA. The constructed predictive equations had predictive performance for SGA, with areas under the receiver-operated characteristic curve of 0.724, 0.655, 0.597, 0.664 and 0.754 for AFP, b-hCG, uE3, IHA, and the combination, respectively. CONCLUSION: The quad test for aneuploidy screening could also be used as a predictor of SGA, without extra-effort and extra-cost.
Assuntos
Síndrome de Down/diagnóstico , Retardo do Crescimento Fetal/epidemiologia , Recém-Nascido Pequeno para a Idade Gestacional , Programas de Rastreamento/métodos , Adolescente , Adulto , Biomarcadores , Gonadotropina Coriônica Humana Subunidade beta/sangue , Síndrome de Down/sangue , Síndrome de Down/genética , Estriol/sangue , Feminino , Retardo do Crescimento Fetal/sangue , Retardo do Crescimento Fetal/genética , Seguimentos , Idade Gestacional , Humanos , Recém-Nascido , Inibinas/sangue , Modelos Genéticos , Valor Preditivo dos Testes , Gravidez , Segundo Trimestre da Gravidez/sangue , Medição de Risco/métodos , Tailândia/epidemiologia , Adulto Jovem , alfa-Fetoproteínas/análiseRESUMO
AIM: To identify the optimal cutoff of mean corpuscular volume (MCV) for screening of alpha-thalassemia 1 trait. METHODS: The database of pregnant women who attended antenatal care clinic at Department of Obstetrics and Gynecology, Chiang Mai University during January 1st, 2015 to December 31st, 2017 was accessed and reviewed. A total of 1264 cases who had MCV ≤80 fL and met the inclusion criteria were enrolled to the study. Cases with hemoglobin level ≤10.0 gm/dL, iron deficiency anemia, chronic medical diseases and other types of thalassemia trait except alpha-thalassemia 1 trait were excluded. RESULTS: After exclusion, 438 cases were available for analysis. Of them, 139 were alpha-thalassemia 1 trait. Based on the receiver operating characteristic curves, the best cutoff value of MCV for screening of alpha-thalassemia 1 trait was ≤76.15 fL, giving 100% sensitivity, and 60.9% specificity with the area under curve of 0.925. Compared to the conventional cutoff (≤80 fL), the new cutoff gave much less false positive tests (117 vs 299 cases), whereas capability to detect alpha-thalassemia 1 trait was the same. CONCLUSION: With the new MCV cutoff (≤76.15 fL) as a secondary cutoff for screening alpha-thalassemia 1 carrier, a substantial number of positive cases requiring DNA analysis could be avoided without compromising the detection efficacy.
Assuntos
Portador Sadio/epidemiologia , Índices de Eritrócitos , Talassemia alfa/genética , Portador Sadio/sangue , Estudos de Casos e Controles , Bases de Dados Factuais , Feminino , Humanos , Programas de Rastreamento , Gravidez , Curva ROC , Estudos Retrospectivos , Tailândia , Talassemia alfa/sangueRESUMO
INTRODUCTION: Identification of beta-thalassemia carrier in prenatal screening relies on the elevated Hb A2 level. Borderline Hb A2 levels pose a diagnostic challenge. We determined the HBB genotypes in subjects with borderline Hb A2 in northern Thailand and studied the effects of coinherited alpha0-thalassemia on Hb A2 levels. METHODS: Blood samples with Hb A2 3.1-10.0% from 2193 samples submitted for prenatal thalassemia screening were selected. Information on HBB genotypes and coinherited alpha0-thalassemia were collected. All samples with unknown HBB genotypes underwent an automated DNA sequencing. The Hb A2 levels were compared according to the coinherited alpha0-thalassemia. RESULTS: HBB mutations were found in 298 (98.7%) of 302 samples with Hb A2 4.0-10.0%. In the 106 samples with Hb A2 3.1-3.9%, six had HBB mutations; four Hb Dhonburi [codon 126 (Tâ¯>â¯G)], one CAP site mutation [CAPâ¯+â¯1 (Aâ¯>â¯C)] and one beta0-thalassemia [codon 41/42 (-TTCT)] with a coinherited HBD mutation [nt-77 (Tâ¯>â¯C)]. The Hb A2 levels in beta-thalassemia carriers with and without coinherited alpha0-thalassemia were not significantly different. CONCLUSIONS: HBB mutations in northern Thais with borderline Hb A2 levels comprise an unstable variant Hb Dhonburi and CAPâ¯+â¯1 (Aâ¯>â¯C) mutation. Coinherited HBD mutation lowers Hb A2 and can cause a misidentification of a beta-thalassemia carrier.
Assuntos
Hemoglobina A2/análise , Hemoglobinas/genética , Talassemia alfa/genética , Erros de Diagnóstico , Genótipo , Hemoglobinas Anormais , Humanos , Epidemiologia Molecular , Mutação , Diagnóstico Pré-Natal , Tailândia/epidemiologia , Talassemia betaRESUMO
BACKGROUND: To identify the performance of fetal Down syndrome (DS) screening for developing countries. METHODS: A prospective study on MSS (maternal serum screening) with complete follow-ups (n = 41,924) was conducted in 32 network hospitals in the northern part of Thailand. Various models of MSS were tested for performance. RESULTS: MSS based on Caucasian reference range resulted in very high false positive rate (FPR; 13%) in our country, compared to the rate of 7.8% with our own (Thai) reference range, whereas the detection rate was comparable. As individual screening, C-S (contingent first trimester screening including PAPP-A, and free beta-hCG, classified as a) high risk [> 1:30], indicated for invasive diagnosis; b) intermediate risk [1:30-1500], indicated for STS; and c) low risk [< 1:1500], need no further tests.) was the most effective model (sensitivity 84.9%, FPR 7.7%) but nearly one-third needed the second trimester test (STS) because of intermediate results. Additionally, about one-third had their first visits in the second trimester and had no chance of FTS (first trimester screening). C-S plus STS had a sensitivity of 82.4% and FPR 8.1% whereas independent first and second trimester screening model (I-S) gave the sensitivity of 78.4% and FPR of 7.5% but was much more convenient and practical. CONCLUSION: C-S plus STS was the most effective models while I-S model was also effective and may be better for developing countries because of its simplicity and feasibility.
Assuntos
Países em Desenvolvimento , Síndrome de Down/diagnóstico , Testes para Triagem do Soro Materno , Diagnóstico Pré-Natal/métodos , Síndrome de Down/sangue , Feminino , Humanos , Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade , TailândiaRESUMO
OBJECTIVE: To determine the association between second-trimester serum Down syndrome screening (alpha-fetoprotein [AFP] free beta-human chorionic gonadotropin [b-hCG] unconjugated estriol [uE3]) and preterm birth and to create predictive models for preterm birth. METHODS: Secondary analysis on a prospective database of pregnancies undergoing second-trimester screen with complete follow-up. The multiples of medians (MoM) of the biomarkers were compared between the group of term, preterm (< 37 weeks), early preterm (< 34 weeks), and very early preterm (< 32 weeks) delivery. Predictive models were developed based on adjusted MoMs and logistic regression and diagnostic performances in predicting preterm birth were determined. RESULTS: Of 20,780 pregnancies, 1,554 (7.5), 363 (1.7), and 158 (0.8%) had preterm, early preterm, and very early preterm birth respectively. High levels of AFP and b-hCG but low levels of uE3 were significantly associated with higher rates of preterm, early preterm and very early preterm delivery. The predictive models had diagnostic performance in predicting preterm birth with the areas under the ROC curve of 0.688, 0.534, 0.599, and 0.718 for AFP, b-hCG, uE3, and combined biomarkers respectively. CONCLUSION: The second trimester Down syndrome screening could also be used as a tool of risk identification of preterm birth in the same test, without extra-effort and extra-cost.
Assuntos
Síndrome de Down/diagnóstico , Testes para Triagem do Soro Materno/estatística & dados numéricos , Segundo Trimestre da Gravidez/sangue , Nascimento Prematuro/diagnóstico , Adulto , Aneuploidia , Biomarcadores/sangue , Gonadotropina Coriônica Humana Subunidade beta/sangue , Síndrome de Down/embriologia , Estriol/sangue , Feminino , Humanos , Recém-Nascido , Modelos Logísticos , Valor Preditivo dos Testes , Gravidez , Nascimento Prematuro/etiologia , Estudos Prospectivos , Curva ROC , alfa-Fetoproteínas/análiseRESUMO
PURPOSE: The purpose of this study is to determine the effectiveness of second-trimester maternal serum screening for Down syndrome as a screening test for fetal hemoglobin (Hb) Bart's disease among an unselected population. METHODS: A secondary analysis of a large prospective database (20 254 pregnancies) was conducted to compare the levels of maternal serum screening, alpha-fetoprotein (AFP), free beta-human chorionic gonadotropin, and unconjugated estriol between pregnancies with Hb Bart's disease and unaffected pregnancies. RESULTS: The median AFP levels were much higher among affected fetuses (1.96 vs 1.12 multiple of the median; P < .001), yielding a sensitivity of 81.6% and specificity of 86.4%. Thus, AFP measurement is effective in predicting fetal Hb Bart's disease among an unselected population when using a cutoff value of 1.5 multiple of the median. The serum free beta-human chorionic gonadotropin levels were slightly, but significantly, higher in the affected pregnancies, while the serum unconjugated estriol levels were minimally, but significantly, lower among the affected pregnancies. CONCLUSION: Second-trimester maternal serum AFP levels were significantly elevated in cases of fetal Hb Bart's disease. Pregnancies with unexplained elevated serum AFP levels in areas of high prevalence of Hb Bart's disease should always undergo a detailed ultrasound examination to detect any early signs of fetal anemia before development of hydrops fetalis.
Assuntos
Síndrome de Down/sangue , Hemoglobinopatias/sangue , Hemoglobinas Anormais , Diagnóstico Pré-Natal/métodos , alfa-Fetoproteínas/análise , Adulto , Gonadotropina Coriônica Humana Subunidade beta/sangue , Estriol/sangue , Feminino , Humanos , Gravidez , Segundo Trimestre da Gravidez , Estudos Prospectivos , Sensibilidade e EspecificidadeRESUMO
OBJECTIVE: To investigate the association between iron supplementation during early pregnancy and the presence of de novo hypertension after 20 weeks' gestation (either gestational hypertension or pre-eclampsia). STUDY DESIGN: Retrospective cohort study. METHODS: This study retrospectively reviewed the medical records of non-anemic pregnant women who received first antenatal care at the Department of Obstetrics and Gynecology, Faculty of Medicine Vajira Hospital, Navamindradhiraj University, Bangkok, Thailand, during the June 2009-December 2010 study period. All included women had blood pressure and urine albumin level data that were recorded at each antenatal visit. The study population was divided into one of the two following groups: iron supplementation starting at gestational age (GA) < 16 weeks (study group) or GA ≥ 16 weeks (control group). A comparison of the proportion of de novo hypertension arising after 20 weeks' gestation was then performed between groups. RESULTS: Four hundred non-anemic pregnant women were included, with 200 patients allocated to each groups. The overall incidence of de novo hypertension after 20 weeks' gestation was 10% (40/400), with significantly higher prevalence in the study group than that in the control group [13.5% (27/200) vs. 6.5% (13/200); relative risk: 2.14, 95%, CI 1.22-3.73; p = 0.008]. None of the women in this study developed anemia at time of delivery. There was no significant difference between groups for GA at delivery, birth weight, or birth asphyxia. CONCLUSION: In our study population, iron supplementation before 16 weeks' GA was significantly associated with increased risk of developing de novo hypertension after 20 weeks' gestation.
Assuntos
Suplementos Nutricionais , Hipertensão Induzida pela Gravidez/epidemiologia , Ferro/administração & dosagem , Pré-Eclâmpsia/epidemiologia , Adulto , Pressão Sanguínea , Feminino , Idade Gestacional , Humanos , Hipertensão Induzida pela Gravidez/sangue , Pré-Eclâmpsia/sangue , Gravidez , Cuidado Pré-Natal , Estudos Retrospectivos , Tailândia , Adulto JovemRESUMO
Objective To determine the timeline of the first appearance of an increased CT ratio of fetuses with hemoglobin (Hb) Bart's disease. Materials and Methods A prospective longitudinal study was conducted on pregnancies at risk for fetal Hb Bart's disease. Sonographic markers including cardiothoracic (CT) ratio and middle cerebral artery peak systolic velocity (MCA-PSV) were serially assessed and recorded from the first trimester. The definite diagnosis of fetal Hb Bart's disease based on DNA analysis (CVS), or fetal Hb typing (HPLC; cordocentesis) was performed at the first appearance of an increased CT ratio. Results Of 275 pregnancies at risk, 64 fetuses were finally proven to be affected and life table analysis was performed. Most affected fetuses showed an increased CT ratio in late first trimester and early second trimester, with median time of the first appearance at 13 weeks and all affected fetuses were detected at 23 weeks or less. The CT ratio yielded a sensitivity of 100â% at a gestational age of 23 weeks with a false-positive rate of 8â%. MCA-PSV appeared later than CT ratio. Only 9.4â% of affected cases developed abnormal MCA-PSV before an increased CT ratio. Conclusion The timeline of the first appearance of an increased CT ratio of fetuses with Hb Bart's disease was established. This may help us identify Hb Bart's disease among fetuses at risk in earlier gestation and proper schedules for serial ultrasound could be made more effectively.
Assuntos
Coração , Tórax , Talassemia alfa , Feminino , Feto , Coração/anatomia & histologia , Coração/diagnóstico por imagem , Hemoglobinas Anormais , Humanos , Tábuas de Vida , Estudos Longitudinais , Gravidez , Estudos Prospectivos , Tórax/anatomia & histologia , Tórax/diagnóstico por imagem , Talassemia alfa/diagnóstico por imagemRESUMO
OBJECTIVE: To establish the reference ranges of the placental volume between 10 and 14 weeks of gestation of Thai fetuses. METHODS: The placental volumes were acquired in normal pregnancies between 10 and 14 weeks of gestation using transabdominal three-dimensional ultrasound. The placental volume was then analyzed using VOCAL (virtual organ computer-aided analysis) technique with a rotation angle of 30°. The measured values were regressed to identify the best-fit model. RESULTS: A total of 236 volume datasets met the inclusion criteria and were used for offline analysis. Placental volume significantly increased with increasing crown-rump length (CRL). The best-fit regression models for predicted mean and SD as a function of CRL, available for z score calculation and construction of the percentile chart, are as follows: [Formula: see text] CONCLUSION: Reference ranges of placental volume have been constructed. This normative data may be a useful tool in the evaluation of various conditions affecting placental size, eg, fetal hemoglobin Bart's disease. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:185-191, 2017.
Assuntos
Imageamento Tridimensional/métodos , Placenta/anatomia & histologia , Ultrassonografia Pré-Natal/métodos , Adolescente , Adulto , Estatura Cabeça-Cóccix , Feminino , Humanos , Tamanho do Órgão , Placenta/diagnóstico por imagem , Gravidez , Estudos Prospectivos , Valores de Referência , Tailândia , Adulto JovemRESUMO
Background Homozygous hemoglobin E (HbE) disease is common, especially in Southeast Asia where the prevalence may be as high as nearly 1 % of pregnancies and it is usually associated with mild anemia. Nevertheless, the effects of the disease on pregnancy outcomes have never been explored. Objective To compare the obstetric adverse outcomes between singleton pregnancies complicated with HbE disease and normal controls. Patients and Methods A retrospective cohort study was undertaken by assessment of the database of maternal-fetal medicine units, Chiang Mai University, Thailand, from January 2000 to December 2014 to search for the records of pregnant women complicated by the disease. The records of low risk pregnancies were randomly selected as a control group with a ratio of 10:1. Pregnancies with underlying medical diseases or fetal abnormalities as well as those with no complete data were excluded. Result During the study period, 78 women with homozygous HbE disease (study group) and 780 normal controls were recruited. Most baseline characteristics of the two groups were similar. The mean birth weight was significantly lower in the study group (2683 ± 627 vs 2925 ± 623 g, P = 0.001).The prevalence of fetal growth restriction was also significantly higher in the study group (13.2 vs 6.7 %, P = 0.040, relative risk 1.96; 95 % CI 1.04-3.69), whereas the rates of other outcomes such as preterm birth were comparable. Conclusion for Practice Homozygous HbE disease does not increase risk of common adverse pregnancy outcomes, but it significantly increases risk of fetal growth restriction, resulting in significantly lower mean birth weight.
Assuntos
Hemoglobina E , Complicações Hematológicas na Gravidez/epidemiologia , Nascimento Prematuro/epidemiologia , Talassemia beta/complicações , Adulto , Estudos de Casos e Controles , Feminino , Retardo do Crescimento Fetal/epidemiologia , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Gravidez , Resultado da Gravidez/epidemiologia , Nascimento Prematuro/etiologia , Prevalência , Estudos Retrospectivos , Tailândia/epidemiologia , Talassemia beta/epidemiologiaAssuntos
Transfusão de Sangue Intrauterina , Doenças Fetais/terapia , Hemoglobinopatias/terapia , Hemoglobinas Anormais , Hidropisia Fetal/terapia , Adulto , Anemia/embriologia , Anemia/etiologia , Anemia/terapia , Asfixia Neonatal/etiologia , Asfixia Neonatal/mortalidade , Velocidade do Fluxo Sanguíneo , Gerenciamento Clínico , Feminino , Doenças Fetais/diagnóstico por imagem , Seguimentos , Idade Gestacional , Hemoglobinopatias/complicações , Hemoglobinopatias/diagnóstico por imagem , Hemoglobinopatias/embriologia , Humanos , Hidropisia Fetal/diagnóstico por imagem , Hidropisia Fetal/etiologia , Hidropisia Fetal/mortalidade , Recém-Nascido de Baixo Peso , Recém-Nascido , Masculino , Artéria Cerebral Média , Gravidez , Ultrassonografia Pré-NatalRESUMO
OBJECTIVE: To determine the relationship between adverse pregnancy outcomes and maternal serum alpha-fetoprotein (MSAFP) levels. MATERIALS AND METHODS: A retrospective cohort study was conducted on consecutive singleton pregnancies, screened for fetal Down syndrome, in the northern part of Thailand. The prospective database of our fetal Down screening program was assessed to recruit all consecutive records. Pregnancies with medical complication and fetal abnormality were excluded. The recruited women were categorized into three groups: normal (≥0.76 to ≤2.0 MoM), low (<0.76 MoM) and high (>2.0 MoM) MSAFP levels. RESULTS: Of 7,110 screened women, 5,486 met inclusion criteria, including 240; 5,016 and 230 in the group of high, normal and low MSAFP levels, respectively. The rates of preterm birth, pregnancy-induced hypertension (PIH), fetal growth restriction (FGR), fetal death, low birth weight (LBW) and low APGAR scores were significantly higher in women with high MSAFP levels (11.7 vs. 6.6 %, 7.5 vs. 3.3 %, 7.5 vs. 3.3 %, 2.1 vs. 0.3 %, 15.8 vs. 6.7 %, and 2.9 vs. 0.5 % respectively), with relative risk of 1.76, 2.28, 2.27, 7.46, 2.35 and 6.09, respectively. The rates of preterm birth, FGR and LBW were significantly lower in low MSAFP levels with relative risk of 0.39, 0.26 and 0.26, respectively, whereas the rates of PIH and fetal death and low Apgar scores were not significantly different. CONCLUSIONS: Pregnant women with high MSAFP levels had an increased risk of poor pregnancy outcomes, while those with low MSAFP levels had a significantly lower risk of such outcomes.
Assuntos
Complicações na Gravidez/epidemiologia , Resultado da Gravidez , alfa-Fetoproteínas/metabolismo , Adulto , Estudos de Coortes , Feminino , Morte Fetal , Retardo do Crescimento Fetal/epidemiologia , Humanos , Hipertensão Induzida pela Gravidez/epidemiologia , Recém-Nascido de Baixo Peso , Recém-Nascido , Gravidez , Estudos Retrospectivos , Risco , Tailândia , Adulto JovemRESUMO
OBJECTIVE: The objective of this article is to evaluate the efficacy of the first trimester sonomarkers (11-14 weeks) in predicting hemoglobin (Hb) Bart's disease among fetuses at risk MATERIALS AND METHODS: Prospective analysis was conducted on pregnancies at risk of fetal Hb Bart's disease at 11 to 14 weeks of gestation. Sonographic markers including cardiothoracic (CT) ratio, peak systolic velocity of the middle cerebral artery (MCA-PSV), placental thickness, and nuchal translucency were prospectively assessed and recorded. The definite diagnosis of fetal Hb Bart's disease was based on DNA analysis (chorionic villus sampling) or subsequent fetal Hb typing (high-performance liquid chromatography; cordocentesis). RESULTS: Among 104 pregnancies at risk with complete sonographic assessment at 11 to 14 weeks of gestation, 30 fetuses were finally proven to be affected. The CT ratio gave the highest sensitivity, 93.3%, with specificity of 93.2%, followed by placental thickness and MCA-PSV, respectively. Nuchal translucency had a very low sensitivity of 16.7%. The combination of CT ratio and MCA-PSV increased the sensitivity to 96.7% but somewhat compromise specificity. CONCLUSIONS: At 11 to 14 weeks of gestation, sonographic markers can effectively differentiate affected from unaffected pregnancies. The most sensitive marker was CT ratio plus MCA-PSV. Of couples at risk with no any sonographic markers, the risk of having an affected fetus is nearly eliminated.
Assuntos
Hemoglobinopatias/diagnóstico por imagem , Hemoglobinas Anormais , Adulto , Feminino , Humanos , Artéria Cerebral Média/diagnóstico por imagem , Medição da Translucência Nucal , Gravidez , Primeiro Trimestre da Gravidez , Estudos Prospectivos , Adulto JovemRESUMO
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common inherited enzymopathies in endemic areas of malaria including Southeast Asia. The molecular features of G6PD deficiency are similar among Southeast Asian population, with differences in the type of the prominent variants in each region. This study determined the prevalence and molecular characteristics of G6PD deficiency in northern Thailand. Quantitative assay of G6PD activity was conducted in 566 neonatal cord blood samples and 6 common G6PD mutations were determined by PCR-restriction fragment length polymorphism method on G6PD complete and intermediate deficiency samples. Ninety newborns had G6PD deficiency, with prevalence in male newborns of 17% and that of female newborns having an intermediate and complete deficiency of 13% and 2%, respectively. From 95 G6PD alleles tested, G6PD Mahidol, G6PD Kaiping, G6PD Canton, G6PD Viangchan, G6PD Union, and G6PD Chinese-5 was detected in 19, 17, 15, 13, 7, and 2 alleles, respectively. Our study shows that the prevalence of G6PD deficiency in northern Thai population is high and combination of the common Chinese mutations is the majority, a distribution different from central and southern Thailand where G6PD Viangchan is the prominent variant. These findings suggest a higher proportion of assimilated Chinese ethnic group in the northern Thai population.
Assuntos
Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/genética , Alelos , Feminino , Deficiência de Glucosefosfato Desidrogenase/etnologia , Humanos , Recém-Nascido , Masculino , Mutação , Triagem Neonatal , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Prevalência , Tailândia/epidemiologiaRESUMO
Objective: To determine the diagnostic performance of maternal abdominal visceral adipose tissue thickness, measured by ultrasound, in predicting gestational diabetes mellitus (GDM). Patients and methods: A prospective diagnostic study was conducted on low-risk pregnant women attending our antenatal care clinic. All underwent abdominal visceral adipose tissue (VAT) measurement by two-dimension transabdominal ultrasound twice, at late first trimester (gestational age: GA 11-14 weeks) and second trimester (GA 18-22 weeks). All patients underwent a two-step approach for screening and diagnosis of GDM between GA 24 and 28 weeks. Results: A total of 141 women were recruited into the study; including 32 (22.7%) women with GDM, and 109 (77.3%) women of non-GDM, between GA 24 and 28 weeks. The means VAT at the 1st, 2nd trimester and the difference of VAT of GDM group were 4.0 ± 0.27 cm, 5.7 ± 1.12 cm, and 1.6 ± 0.91 cm respectively. The means VAT at 1st, 2nd trimester and the difference of VAT of non-GDM group were 3.8 ± 1.01 cm, 5.4 ± 1.07 cm, and 1.6 ± 1.12 cm respectively. There were no significant differences of VAT measurements (1st, 2nd and the difference) between both groups. The VAT thickness was slightly greater in the GDM group but the mean differences between 1st and 2nd trimester were comparable between the two groups. The diagnostic performance of VAT, maternal age and body mass index (BMI) in predicting GDM was comparable. Conclusion: Measurement of maternal visceral adipose thickness in early pregnancy is not effective in predicting GDM among Thai women, which is different from most studies conducted on western women. However, a trend of higher VAT in the GDM group was noted.
RESUMO
OBJECTIVE: To compare red blood cell hematology among fetuses at risk of homozygous ß-thalassemia disease at mid-pregnancy. MATERIALS AND METHODS: Eighty-six fetuses, 18 to 22 gestational weeks, at risk of homozygous ß-thalassemia disease undergoing cordocentesis between December 2010 and June 2012 were recruited in the study. Red blood cell parameters were measured and final diagnosis of thalassemia status was based on fetal hemoglobin typing by high performance liquid chromatography technique and DNA analysis. The fetuses were categorized into 3 groups as normal ß-globin genotype, ß-thalassemia trait, and homozygous ß-thalassemia disease. RESULTS: Mean maternal age and mean gestational age were 26.56±6.36 and 19.12±1.06 weeks, respectively. The prevalence of fetuses with homozygous ß-thalassemia disease, ß-thalassemia trait, and normal ß-globin genotype fetuses were 29.07% (25 cases), 20.93% (18 cases), and 50% (43 cases), respectively. All of red blood cell parameters were not significantly different among the 3 groups of fetuses. No affected fetus had anemia during mid-pregnancy. CONCLUSION: No significant difference in red blood cell parameters among unaffected and affected fetuses with homozygous ß-thalassemia disease was found.