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1.
Rev Med Suisse ; 15(668): 1914-1919, 2019 Oct 23.
Artigo em Francês | MEDLINE | ID: mdl-31643151

RESUMO

Following the introduction of non-invasive tests, antenatal screening for trisomy 21 underwent important changes. Clinicians had to rapidly adapt their practice, especially in the field of antenatal counseling. On a population wide scale, new strategies and guidelines have been implemented. This article reviews the basic concepts of antenatal screening, including the use of non-invasive cell-free fetal DNA testing.


Assuntos
Diagnóstico Pré-Natal/métodos , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Feminino , Feto/citologia , Feto/metabolismo , Humanos , Gravidez
2.
Zhonghua Fu Chan Ke Za Zhi ; 54(10): 660-665, 2019 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-31648441

RESUMO

Objective: To analyze the pregnancy outcomes of fetal tetralogy of Fallot and to explore its prenatal diagnosis and treatment procedures. Methods: The clinical data of 63 cases of fetal tetralogy of Fallot (62 cases were singleton and 1 case was one of twin) were collected retrospectively from November, 2013 to November, 2017 in Beijing Obstetrics and Gynecology Hospital. Results: (1) Totally, 63 cases out of 46 352 pregnancies were diagnosed fetal tetralogy of Fallot by fetal ultrasonic cardiogram with about 0.136%(63/46 352) occurrence rate, and the mean gestational age was (23±3) weeks. And 50 cases (79%, 50/63) terminated pregnancy by induced labour. (2) Totally, 57 cases (90%,57/63) accepted genetic diagnosis.Eight cases (13%, 8/63) existed chromosome abnormality including 21-trimosy in 6 cases, 18-trisomy in 1 case and 22q11.2 microdeletion syndrome in 1 case; and these 8 cases were determined before 28 gestational weeks. (3) And 13 cases (21%, 13/63) of no fetal genetic abnormality selected to continue pregnancy. Twelve cases underwent full term delivery (5 cases were cesarean section delivery and 7 cases were vaginal delivery). Twelve newborns underwent surgical radical operation on heart malformation and got recovery. One case underwent preterm cesarean section at 35 gestational weeks for one of twin, and the newborn with tetralogy of Fallot was dead. The other the newborns survived and were followed up for tetralogy of Fallot surgery from 1 month to 3 years old after birth and recovered. Conclusions: Fetal tetralogy of Fallot mainly is diagnosed by ultrasonic cardiogram in the second trimester. The gestational age of diagnosis may be as early as 15 gestational weeks. Fetal tetralogy of Fallot with no genetic abnormality could underwent radical heart malformation operation after birth. It is necessary to undergo genetic testing on fetal tetralogy of Fallot and prenatal multidisciplinary counseling as well.


Assuntos
Resultado da Gravidez , Diagnóstico Pré-Natal/métodos , Tetralogia de Fallot/diagnóstico por imagem , Ultrassonografia Pré-Natal , Aorta/diagnóstico por imagem , Aorta/patologia , Cesárea , Feminino , Feto , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Gravidez , Artéria Pulmonar/diagnóstico por imagem , Estudos Retrospectivos , Tetralogia de Fallot/diagnóstico
3.
Pan Afr Med J ; 33: 86, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31489064

RESUMO

Placenta accreta spectrum disorders is a rare pathology but the incidence has not stopped to increase in recent years. The purpose of our work was the analysis of the epidemiological profile of our patients, the circumstances of diagnosis, the interest of paraclinical explorations in antenatal diagnosis and the evaluation of the evolutionary profile. We hereby report a case series spread over a period of one year from 01/01/2015 to 01/01/2016 at the Gynaecology-Obstetrics department of the University Hospital Center IBN SINA of Rabat where we identified six cases of placenta accreta. We selected patients whose diagnosis was confirmed clinically and histologically. The major risk factors identified were a history of placenta previa, previous caesarean section, advanced maternal age, multiparity. 2D ultrasound and magnetic resonance imaging (MRI) allowed us to strongly suspect the presence of a placenta accreta in a pregnant woman with risk factor(s) but the diagnosis of certainty was always histological. Placenta accreta spectrum disorders were associated with a high risk of severe postpartum hemorrhage, serious comorbidities, and maternal death. Leaving the placenta in situ was an option for women who desire to preserve their fertility and agree to continuous long-term monitoring in centers with adequate expertise but a primary elective caesarean hysterectomy was the safest and most practical option. Placenta accreta spectrum disorders is an uncommon pathology that must be systematically sought in a parturient with risk factors, to avoid serious complications. In light of the latest International Federation of Gynecology and Obstetrics (FIGO) recommendations of 2018, a review of the literature and finally the experience of our center, we propose a course of action according to whether the diagnosis of the placenta is antenatal or perpartum.


Assuntos
Histerectomia/métodos , Placenta Acreta/diagnóstico , Ultrassonografia Pré-Natal/métodos , Adulto , Cesárea/estatística & dados numéricos , Feminino , Humanos , Marrocos , Placenta Acreta/epidemiologia , Hemorragia Pós-Parto/etiologia , Gravidez , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Fatores de Risco
5.
Lancet ; 394(10197): 533-540, 2019 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-31395441

RESUMO

One of the primary goals of genomic medicine is to improve diagnosis through identification of genomic conditions, which could improve clinical management, prevent complications, and promote health. We explore how genomic medicine is being used to obtain molecular diagnoses for patients with previously undiagnosed diseases in prenatal, paediatric, and adult clinical settings. We focus on the role of clinical genomic sequencing (exome and genome) in aiding patients with conditions that are undiagnosed even after extensive clinical evaluation and testing. In particular, we explore the impact of combining genomic and phenotypic data and integrating multiple data types to improve diagnoses for patients with undiagnosed diseases, and we discuss how these genomic sequencing diagnoses could change clinical management.


Assuntos
Doenças Raras/diagnóstico , Análise de Sequência de DNA/métodos , Adulto , Criança , Diagnóstico Precoce , Genômica , Humanos , Fenótipo , Diagnóstico Pré-Natal/métodos , Doenças Raras/genética , Sequenciamento Completo do Exoma , Sequenciamento Completo do Genoma
6.
Anal Bioanal Chem ; 411(26): 6825-6835, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31410536

RESUMO

A rapid and low-cost method of diagnosis is becoming important for detecting fetal inherited diseases, including single-gene disorders and chromosomal abnormalities. Here, we demonstrated an innovation that use paper-dried cord blood (PCB) as the starting material for PCR and whole genome amplification without any DNA extraction step at a very low cost. A novel PCR buffer named "DDB buffer" containing ammonium sulfate and glycerol were used instead of the conventional 10× PCR buffer. The amplicons were directly analyzed through microchip electrophoresis and whole genome sequencing. Inhibitory substances in filter paper were effectively inactivated using DDB buffer. Direct PCR amplification of DNA fragments ranging from 100 to 900 bp using filter paper spotted with 0.5 to 5 µL of cord blood and various anticoagulants was successful. We were able to determine fetal single-gene disorders and chromosomal diseases in all 46 chromosomes using PCB samples successfully. Compared with prenatal diagnosis using purified DNA, the proposed method is simple, fast, less prone to cross-contamination at minimal cost. Researchers and clinical and healthcare workers may employ this method for genetic diagnosis using cord blood samples with minimum laboratory resources. This method is very promising for a variety of genetic diagnosis applications in underserved communities at the point of need in developing areas. Graphical abstract.


Assuntos
Transtornos Cromossômicos/genética , DNA/genética , Teste em Amostras de Sangue Seco/métodos , Diagnóstico Pré-Natal/métodos , Transtornos Cromossômicos/diagnóstico , Teste em Amostras de Sangue Seco/economia , Sangue Fetal/metabolismo , Humanos , Papel , Reação em Cadeia da Polimerase/métodos , Diagnóstico Pré-Natal/economia , Fatores de Tempo
7.
Medicine (Baltimore) ; 98(29): e16458, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31335703

RESUMO

We evaluated the clinical value of the cerebroplacental ratio (CPR) in predicting neonatal acidosis according to the gestational weeks in late pregnancy.From July 2016 to June 2017, 1018 neonates without acidosis and 218 neonates with acidosis (confirmed postpartum) underwent a prenatal examination and hospital delivery at 28 to 41 weeks in our hospital. The CPR was calculated as the ratio of the prenatal middle cerebral artery-pulsation index (MCA-PI) to the umbilical artery-pulsation index (UA-PI).In neonates without acidosis, the fetal UA-PI decreased with increased gestational age during late pregnancy. Similarly, the MCA-PI decreased with increased gestational age, and decreased significantly during the full pregnancy term. Additionally, the CPR peaked in the middle of the late pregnancy period and then decreased. In contrast, in neonates with acidosis, the prenatal UA-PI increased significantly, MCA-PI declined significantly, and CPR declined significantly in relation to normal values (P < .05). For the prediction of neonatal acidosis, the UA-PI was suitable after 32 weeks and the MCA-PI was suitable before 37 weeks. The cutoff values of the CPR for the prediction of neonatal acidosis at 28 to 31 weeks, 32 to 36 weeks, and 37 to 41 weeks were 1.29, 1.36, and 1.22, respectively. Unlike the UA-PI and MCA-PI, the CPR was suitable as an independent predictor of neonatal acidosis at all late pregnancy weeks. In neonates with acidosis, the z score of the UA-PI increased significantly, whereas the z scores of the MCA-PI and CPR decreased significantly, in relation to normal values (P < .05).The CPR can be used to evaluate the adverse status of fetuses during late pregnancy, providing an early prediction of neonatal acidosis.


Assuntos
Acidose/diagnóstico , Doenças do Recém-Nascido/diagnóstico , Artéria Cerebral Média/diagnóstico por imagem , Fluxo Pulsátil , Artérias Umbilicais/diagnóstico por imagem , Estudos de Casos e Controles , Diagnóstico Precoce , Feminino , Feto/metabolismo , Feto/fisiopatologia , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Recém-Nascido/metabolismo , Doenças do Recém-Nascido/fisiopatologia , Valor Preditivo dos Testes , Gravidez , Diagnóstico Pré-Natal/métodos , Prognóstico , Ultrassonografia Doppler em Cores/métodos , Ultrassonografia Pré-Natal/métodos
8.
Cytogenet Genome Res ; 158(2): 63-73, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31261151

RESUMO

Terminal deletion of chromosome 4 (4q deletion syndrome) is a rare genetic condition that is characterized by a broad clinical spectrum and phenotypic variability. Diagnosis of the distinct condition can be identified by conventional chromosome analysis and small deletions by novel molecular cytogenetic methods such as microarray comparative genome hybridization (aCGH). Prenatal diagnosis is challenging; to date 10 cases have been described. We report a prenatally diagnosed case of de novo 4q deletion syndrome confirmed by conventional karyotyping and FISH due to an elevated combined risk for Down syndrome and prenatal ultrasound findings. aCGH validated the diagnosis and offered exact characterization of the disorder. Cytogenetic and microarray results described a 4q32.1qter terminal deletion of the fetus. Prenatal ultrasound detected multiple nonstructural findings (micrognathia, choroid plexus cysts, echogenic fetal bowel, short femur, and cardiac axis deviation). Pregnancy was terminated at 20 weeks. In addition to the index patient, we reviewed the 10 prenatally published cases of 4q deletion syndrome in the literature and compared these with our results. We summarize the patients' characteristics and prenatal clinical findings. Alterations of maternal serum biochemical factors, an elevated combined risk for trisomies, and distinct ultrasonographic findings can often be observed in cases of prenatal 4q deletion syndrome and may facilitate the otherwise difficult prenatal diagnosis.


Assuntos
Transtornos Cromossômicos/diagnóstico , Hibridização in Situ Fluorescente/métodos , Cariotipagem/métodos , Diagnóstico Pré-Natal/métodos , Aborto Induzido , Adulto , Deleção Cromossômica , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 4/genética , Hibridização Genômica Comparativa , Feminino , Humanos , Idade Materna , Fenótipo , Gravidez , Fatores de Risco
9.
Radiol Med ; 124(9): 917-925, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31175537

RESUMO

BACKGROUND: Prenatal magnetic resonance imaging is the best tool to visualize foetal airway. OBJECTIVE: To evaluate the performance of MRI in the assessment of foetal airway status in the presence of a neck mass. MATERIALS AND METHODS: Two paediatric radiologists with 12- and 2-year experience in foetal imaging retrospectively analysed 23 foetal MRI examinations, performed between 2001 and 2016, after a second-level ultrasound suspicious for presence of a neck mass. Postnatal imaging, postoperative report, histology, autopsy, and clinical outcomes were the reference standard to calculate sensitivity, specificity, accuracy, positive predictive value (PPV), and negative predictive value (NPV) of prenatal MRI in detecting airway patency. We used the Cohen к statistics to estimate the interobserver agreement. We also assessed MRI performance in the diagnosis of the mass nature. RESULTS: We obtained data about postnatal airway status in 19 of 23 patients; prenatal MRI demonstrated a sensitivity of 9/9 [100%, 95% confidence interval (CI) 66-100%], specificity 8/10 (80%, 44-98%), accuracy 17/19 (89%, 67-99%), PPV 9/11 (82%, 48-98%), and NPV 8/8 (100%, 63-100%); the interobserver agreement was perfect. Prenatal MRI correctly identified 21 of 23 masses (к = 0.858); the interobserver agreement was almost perfect (к = 0.851). CONCLUSION: Prenatal MRI demonstrated high accuracy in assessing foetal airway status and diagnosing mass nature, allowing proper delivery planning.


Assuntos
Obstrução das Vias Respiratórias/diagnóstico por imagem , Imagem por Ressonância Magnética , Pescoço/diagnóstico por imagem , Diagnóstico Pré-Natal/métodos , Adulto , Obstrução das Vias Respiratórias/embriologia , Feminino , Humanos , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Pescoço/embriologia , Gravidez , Estudos Retrospectivos , Adulto Jovem
10.
Pediatr Cardiol ; 40(6): 1175-1182, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31172229

RESUMO

Non-invasive fetal electrocardiography (ECG) is a promising method for evaluating fetal cardiac electrical activity. Despite advances in fetal ECG technology, its ability to provide reliable, interpretable results in a typical outpatient fetal cardiology setting remains unclear. We sought to determine the feasibility of measuring standard ECG intervals in an outpatient fetal cardiology practice using an abdominal fetal ECG device that employs blind source separation with reference, an innovative signal-processing technique for fetal ECG extraction. Women scheduled for clinically indicated outpatient fetal echocardiogram underwent 10 min of fetal ECG acquisition from the maternal abdomen using specialized gel electrodes. A bedside laptop computer performed fetal ECG extraction, allowing real-time visualization of fetal and maternal ECG signals. Offline post-processing of 1 min of recorded data yielded fetal P-wave duration, PR interval, QRS duration, RR interval, QT interval, and QTc. Fifty-five fetuses were studied with gestational age 18-37 weeks, including 13 with abnormal fetal echocardiogram findings and three sets of twins. Interpretable results were obtained in 91% of fetuses, including 85% during the vernix period and 100% of twin fetuses. PR interval and RR interval of 18-24 week gestation fetuses were significantly shorter than those with gestational age 25-31 and 32-37 weeks. Of the six fetuses with abnormal rhythms on fetal echocardiogram, fetal ECG tracing was interpretable in five and matched the rhythm noted on fetal echocardiogram. Abdominal fetal ECG acquisition is feasible for arrhythmia detection and ECG interval calculation in a routine clinical setting.


Assuntos
Arritmias Cardíacas/diagnóstico , Eletrocardiografia/métodos , Frequência Cardíaca Fetal , Diagnóstico Pré-Natal/métodos , Adulto , Instituições de Assistência Ambulatorial , Eletrocardiografia/instrumentação , Estudos de Viabilidade , Feminino , Idade Gestacional , Humanos , Pessoa de Meia-Idade , Gravidez , Adulto Jovem
11.
Clin Biochem ; 69: 21-25, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31152694

RESUMO

OBJECTIVE: We aimed to determine the correlation between serum alpha-fetoprotein (AFP), the free human chorionic gonadotropin beta subunit (free beta-HCG) in pregnant women during the mid-trimester, and fetal hypospadias, and tried to establish a risk prediction model. METHODS: A multi-center case-control study was conducted. We divided the fetuses into two groups (69 with fetal hypospadias and 62 without fetal hypospadias). Time-resolved immunofluorescence was used to determine the serum levels of AFP and free beta-HCG. The best cut -value and area under curve (AUC) were determined based on the Receiver operating characteristics (ROC) curve, and the diagnostic value of AFP and free beta-HCG was evaluated. RESULTS: The level of AFP in the study group was 1.14 multiple of Median(MOM), which was higher than in the control group (0.96 MOM); the difference was significant (Z = 2.831, P = .005). Similarly, the free beta-HCG level was 1.30 MOM in the study group, and was also significantly higher than in the control group (0.84 MOM; Z = 3.131, P = .004). We used the AFP and free beta-HCG levels separately to predict fetuses with hypospadias, and the AUCs were 0.644 (95% Confidence interval (CI): 0.5500.737, P = .005) and 0.659 (95% CI: 0.5650.752, P = .002), respectively. According to the ROC curve, the best cut-off values for AFP and free beta-HCG were 0.945 MOM and 1.275 MOM, respectively. When we combined the AFP level with the free beta-HCG level, the AUC was 0.700 (95% CI: 0.610-0.789, P < .001), with a sensitivity of 0.551 and a specificity of 0.855. CONCLUSION: Combined screening for fetal hypospadias with maternal serum AFP and free beta-HCG levels during the early second trimester has high sensitivity and specificity, which can be used as a new marker.


Assuntos
Gonadotropina Coriônica Humana Subunidade beta/sangue , Hipospadia/diagnóstico , Diagnóstico Pré-Natal/métodos , alfa-Fetoproteínas/análise , Área Sob a Curva , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Gravidez , Curva ROC , Fatores de Risco
12.
Pan Afr Med J ; 32: 116, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31223406

RESUMO

Amniotic band syndrome (ABS) comprises of a spectrum of complex congenital malformations mainly interesting the limbs, but even the craniofacial region and the thoracoabdominal axis. There are two major opposing pathophysiological theories: premature rupture of the amniotic sac (exogenous growth theory) would result in the formation of fibrous bands which would lead to strangulation, thus causing the observed abnormalities; the endogenous theory holds that this is a syndrome of vascular origin and that the bands have no causative role. Prognosis depends on the severity of malformations. We here report two cases of lethal malformations in order to discuss the challenges in the diagnosis and treatment of amniotic band syndrome. This study mainly aims to highlight the role of prenatal diagnosis in the therapeutic management of this embryo-fetopathy.


Assuntos
Síndrome de Bandas Amnióticas/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Síndrome de Bandas Amnióticas/fisiopatologia , Feminino , Humanos , Gravidez , Prognóstico
14.
Med Sci Monit ; 25: 3170-3180, 2019 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-31036798

RESUMO

The umbilical cord is the only connection between the mother and the fetus, through which it is possible to transport respiratory gases, nutrients, and metabolites. Thanks to the umbilical cord, the fetus has also the ability to move, which is necessary for its proper psychomotor development. The correct structure and function of umbilical vessels and the entire umbilical cord determine the possibility of proper development and survival of the fetus. Umbilical cord anatomy should be assessed in the ultrasound examination in the first trimester. It is of vital importance to confirm the correct number of umbilical vessels and their intra-abdominal course, as well as carefully assessing the abdominal and placental insertion sites. In the latter half of pregnancy, the use of the Doppler imaging enables assessment of the function of the fetal-placental vessels, thus providing valuable information about the condition of the fetus.


Assuntos
Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/métodos , Cordão Umbilical/anormalidades , Cordão Umbilical/diagnóstico por imagem , Feminino , Sofrimento Fetal/diagnóstico por imagem , Feto/diagnóstico por imagem , Feto/metabolismo , Humanos , Gravidez
15.
J Coll Physicians Surg Pak ; 29(5): 483-485, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31036126

RESUMO

The aim of this study was to explore the feasibility of non-invasive prenatal genetic diagnosis of ß-thalassemia with small fragments of cell-free fetal DNA (cffDNA) in peripheral blood of pregnant women. It was an observational study carried out at Department of Obstetrics, The People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China, from January 2016 to March 2018. A total of 40 pregnant women, who were likely to give birth to babies with severe ß-thalassemia, were selected, and ß-globin genotype of the fetus was non-invasively detected by cffDNA in peripheral blood of their mothers. Small fragments of cffDNA from all specimens were successfully amplified. Compared with the results of traumatic prenatal diagnosis, 37 cases (92.50%) were diagnosed and 3 cases (7.50%) were misdiagnosed. The cffDNA in maternal plasma can be used for non-invasive prenatal genetic diagnosis of ß-thalassemia, and is worthy of promotion.


Assuntos
Ácidos Nucleicos Livres/sangue , DNA/sangue , DNA/genética , Amplificação de Genes/genética , Gravidez/sangue , Diagnóstico Pré-Natal/métodos , Globinas beta/genética , Talassemia beta/diagnóstico , Adulto , Ácidos Nucleicos Livres/genética , DNA/isolamento & purificação , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/genética , Feto/irrigação sanguínea , Testes Genéticos , Humanos , Gestantes , Talassemia beta/genética
16.
Diabetes Res Clin Pract ; 152: 39-52, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31063851

RESUMO

AIM: The purpose of the present study was to assess the relationship of sex hormone binding globulin (SHBG) and gestational diabetes mellitus (GDM). METHODS: The Cochrane Library, Medline, ScienceDirect, and Web of Science were searched for studies published from the inception of the databases up to February 2019. Our inclusion criteria were published observational full-text articles. All data were analyzed using Review Manager 5.3. Of 208 papers reviewed, 26 studies (n = 6668) were considered for meta-analysis. RESULTS: The SHBG level was significantly lower in women with GDM compared to healthy women (MD = -11.86; 95% CI: [-13.02, -10.71]). Also, SHBG in women with PCOS and GDM and obesity was significantly lower than women with PCOS without GDM (MD = -38.14; 95% CI: [-56.79, -19.48]) and normal weight women (MD: -58.96; 95% CI: [-79.32, -38.59]). SHBG in the second trimester was lower than that in the first trimester and pre-conception. CONCLUSIONS: This systematic review showed that the level of SHBG is significantly lower in GDM pregnant women than that in healthy women. The results of this systematic review about the relationship of GDM and SHBG and suggestion to assess this marker in early pregnancy should be considered with caution.


Assuntos
Biomarcadores/sangue , Diabetes Gestacional/diagnóstico , Diagnóstico Pré-Natal/métodos , Globulina de Ligação a Hormônio Sexual/análise , Adulto , Diabetes Gestacional/sangue , Feminino , Teste de Tolerância a Glucose , Humanos , Cuidado Pré-Concepcional/métodos , Gravidez , Primeiro Trimestre da Gravidez/sangue , Segundo Trimestre da Gravidez/sangue , Globulina de Ligação a Hormônio Sexual/metabolismo
17.
J Biotechnol ; 300: 11-19, 2019 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-31055145

RESUMO

We aimed to evaluate the contribution of different factors in the Fetal Medicine Foundation algorithms for preeclampsia (PE) risk calculation during first-trimester screening in Hungary. We selected subjects for the nested case-control study from a prospective cohort of 2545 low-risk pregnancies. Eighty-two patients with PE and 82 gestational age-matched controls were included. Individual PE risk was calculated using two risk-assessing softwares. Using Astraia 2.3.1, considering maternal characteristics and biophysical parameters only, detection rates (DR) were 63.6% for early-PE and 67.6% for late-PE. When we added placenta associated plasma protein A (PAPP-A) to the risk calculation, DRs decreased to 54.5% and 64.8% respectively. Using Astraia 2.8.2 with maternal characteristics and biophysical parameters resulted in the DRs of 63.6% (early-PE) and 56.3% (late-PE). If we added PAPP-A to the risk calculation, DRs improved to 72.7% and 54.9%. The addition of placental growth factor (PlGF) did not increase detection rates in either calculation. In conclusion, using maternal characteristics, biophysical parameters, and PAPP-A, an acceptable screening efficacy could be achieved for early-PE during first-trimester screening. Since PlGF did not improve efficacy in our study, we suggest setting new standard curves for PlGF in Eastern European pregnant women, and the evaluation of novel biochemical markers.


Assuntos
Pré-Eclâmpsia/diagnóstico , Primeiro Trimestre da Gravidez , Diagnóstico Pré-Natal/métodos , Biomarcadores/metabolismo , Estudos de Casos e Controles , Feminino , Humanos , Hungria/epidemiologia , Pré-Eclâmpsia/epidemiologia , Gravidez , Proteína Plasmática A Associada à Gravidez/metabolismo , Diagnóstico Pré-Natal/normas , Estudos Prospectivos , Software
18.
Z Geburtshilfe Neonatol ; 223(5): 297-303, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31132797

RESUMO

We aimed to configure impaired/altered metabolomic profiles of pregnant women carrying Down syndrome (DS) fetuses. The study involved 21 and 32 pregnant women with DS and euploid fetuses, respectively, as determined by prenatal screening and diagnosis as part of an antenatal care program. Metabolomic analyses were carried out using gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-quadrupole time-of-flight mass spectrometry (LC-qTOF-MS) methods. A total of 95 metabolites were identified. GC-MS analysis indicated that levels of 2-hydroxybutyric acid, benzoic acid, nonanoic acid, 3-hydroxybutyric acid, and 2-ketoisocaproic acid were increased in the DS group, where beta-alanine, threonic acid, oxalic acid, alpha-tocopherol, uracil, 2-piperidone, and creatinine were decreased. However, LC-qTOF-MS analysis showed that lipid-related metabolites were decreased in women carrying DS fetuses, whereas creatine, N4-phosphoagmatine, citrate, 2,5-dioxopentanoate, 2-furoate, pyruvate, and fructose levels were increased. Pathway analysis was also performed using metabolites whose levels were significantly altered (p<0.05) between the groups, and the findings indicated that the biosynthesis pathways of aminoacyl-tRNA and "valine-leucine-isoleucine", and metabolism pathways of "glycine-serine-threonine", nitrogen, "alanine-aspartate-glutamate", propanoate, glycerophospholipid, cysteine, methionine, and phenylalanine were significantly altered. Our findings indicate a special type of metabolic status/syndrome in pregnant women with Down syndrome fetuses. It could be speculated that altered metabolic status might influence both gametogenesis and embryogenesis. Down syndrome is a complex genetic disorder that is important to detect prenatally, but may also be prevented by taking necessary precautions prior to pregnancy.


Assuntos
Síndrome de Down , Cromatografia Gasosa-Espectrometria de Massas/métodos , Metabolômica , Diagnóstico Pré-Natal , Biomarcadores/sangue , Síndrome de Down/sangue , Síndrome de Down/diagnóstico , Feminino , Feto , Humanos , Metabolômica/métodos , Gravidez , Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico , Trissomia/genética
19.
Diabetes Res Clin Pract ; 152: 146-155, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31063853

RESUMO

AIMS: To determine whether women with abnormal gestational diabetes (GDM) screening test results short of frank GDM have increased health-services utilization compared to women with normal results. METHODS: We conducted a retrospective-cohort study among 29,999 women enrolled in Kaiser Permanente Northwest who completed GDM screening (two-step method: 1-h, 50-g glucose-challenge test (GCT); 3-h, 100-g oral-glucose-tolerance test (OGTT)). Test results were categorized as normal GCT (referent, n = 25,535), normal OGTT (n = 2246), abnormal OGTT but not GDM (n = 1477), and GDM (n = 741). Rate ratios (RRs) were calculated for utilization measures and analyses were age- and BMI-adjusted. RESULTS: Compared to women with normal GCT, rates for obstetrical ultrasound, noninvasive and invasive antenatal testing, and ambulatory visits to the obstetrics department were significantly greater among women with abnormal OGTT (RRs 1.2 [95%CI 1.1, 1.4], 1.3 [1.1, 1.4], 1.7 [1.3, 2.3], and 1.1 [1.1, 1.1], respectively) and GDM (RRs 1.8, 1.8, 2.0, and 1.3, respectively). Women with abnormal OGTT results were more likely to visit a dietician than women with normal GCT; RRs ranged from 4.0 [3.3, 4.9] for women with abnormal GCT but normal OGTT to 72.1 [64, 81] for women with GDM. CONCLUSIONS: Health-services utilization increased with severity of glucose result, even among women without GDM.


Assuntos
Glicemia/análise , Programas de Rastreamento/estatística & dados numéricos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Gravidez/sangue , Cuidado Pré-Natal/estatística & dados numéricos , Adulto , Glicemia/metabolismo , Estudos de Coortes , Diabetes Gestacional/sangue , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/epidemiologia , Feminino , Intolerância à Glucose/sangue , Intolerância à Glucose/diagnóstico , Intolerância à Glucose/epidemiologia , Teste de Tolerância a Glucose , Serviços de Saúde/estatística & dados numéricos , Humanos , Programas de Rastreamento/métodos , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Prognóstico , Estudos Retrospectivos , Adulto Jovem
20.
J Biotechnol ; 299: 72-78, 2019 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-31054297

RESUMO

Low-coverage massively parallel genome sequencing for non-invasive prenatal testing (NIPT) of common aneuploidies is one of the most rapidly adopted and relatively low-cost DNA tests. Since aggregation of reads from a large number of samples allows overcoming the problems of extremely low coverage of individual samples, we describe the possible re-use of the data generated during NIPT testing for genome scale population specific frequency determination of small DNA variants, requiring no additional costs except of those for the NIPT test itself. We applied our method to a data set comprising of 1501 original NIPT test results and evaluated the findings on different levels, from in silico population frequency comparisons up to wet lab validation analyses using a gold-standard method based on Sanger sequencing. The revealed high reliability of variant calling and allelic frequency determinations suggest that these NIPT data could serve as valuable alternatives to large scale population studies even for smaller countries around the world.


Assuntos
Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Diagnóstico Pré-Natal/métodos , Biologia Computacional/economia , Feminino , Frequência do Gene , Sequenciamento de Nucleotídeos em Larga Escala/economia , Humanos , Gravidez , Diagnóstico Pré-Natal/economia , Reprodutibilidade dos Testes , Eslováquia , Sequenciamento Completo do Genoma/economia
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