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1.
Int J Epidemiol ; 51(1): 202-212, 2022 02 18.
Artigo em Inglês | MEDLINE | ID: mdl-34432047

RESUMO

BACKGROUND: Investigations on the potential effects of ambient fine particulate matter (PM2.5) on large for gestational age (LGA) are limited. Furthermore, no study has explored weekly-specific susceptible exposure windows for small for gestational age (SGA) and LGA. This study evaluated the associations of exposure to ambient PM2.5 over the preconception and entire-pregnancy periods with risks of SGA and LGA, as well as explored critical weekly-specific exposure windows. METHODS: 10 916 singleton pregnant women with 24-42 completed gestational weeks from the Project Environmental and LifEstyle FActors iN metabolic health throughout life-course Trajectories between 2014 and 2016 were included in this study. Distributed lag models (DLMs) incorporated in Cox proportional-hazards models were applied to explore the associations of maternal exposure to weekly ambient PM2.5 throughout 12 weeks before pregnancy and pregnancy periods with risks of SGA and LGA after controlling for potential confounders. RESULTS: For a 10-µg/m3 increase in maternal exposure to PM2.5, positive associations with SGA were observed during the 1st to 9th preconceptional weeks and the 1st to 2nd gestational weeks (P<0.05), with the strongest association in the 5th preconceptional week [hazard ratio (HR), 1.06; 95% confidential interval (CI), 1.03-1.09]. For LGA, positive associations were observed during the 1st to 12th preconceptional weeks and the 1st to 5th gestational weeks (P<0.05), with the strongest association in the 7th preconceptional week (HR, 1.10; 95% CI, 1.08-1.12). CONCLUSIONS: Exposure to high-level ambient PM2.5 is associated with increased risks of both SGA and LGA, and the most susceptible exposure windows are the preconception and early-pregnancy periods.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Poluentes Atmosféricos/análise , Poluentes Atmosféricos/toxicidade , Poluição do Ar/análise , Poluição do Ar/estatística & dados numéricos , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional , Exposição Materna/efeitos adversos , Material Particulado/análise , Material Particulado/toxicidade , Gravidez
2.
Gynecol Obstet Invest ; 86(4): 379-387, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34384080

RESUMO

OBJECTIVE: This study was designed to investigate the efficiency of noninvasive prenatal testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing of cell-free DNA in maternal plasma. METHODS: This is a retrospective study on the positive NIPT results for SCAs collected from our hospital between January 2012 and December 2018. Samples with positive NIPT results for SCAs were then confirmed by prenatal or postnatal karyotyping analysis. RESULTS: After cytogenetic analysis, abnormal karyotypes were confirmed in 104 cases and the overall positive predictive value (PPV) of NIPT for SCAs was 43.40% (102/235). The most frequently detected karyotypes included 47,XXY (n = 42), 47,XXX (n = 20), 47,XYY (n = 16), and 45,X (n = 2). Meanwhile, 10 cases were confirmed with mosaic karyotype 45,X/46,XX and 14 cases with numerical or structural chromosome abnormalities, including a double trisomy 48,XXX,+18. Cytogenetic results from the other 131 cases showed normal XX or XY, which were discordant with NIPT results. Upon analysis of parental karyotypes, 29 (12.34%) showed false positivity in NIPT results that were caused by maternal sex chromosome abnormalities. CONCLUSION: NIPT is an effective screening tool for SCA with a PPV of 43.40%. Maternal karyotype abnormalities occurred in 12.34% of the cases with abnormal NIPT. Diagnostic testing of the fetus and the mother are recommended.


Assuntos
Teste Pré-Natal não Invasivo , Aneuploidia , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Aberrações dos Cromossomos Sexuais , Cromossomos Sexuais/genética
3.
J Matern Fetal Neonatal Med ; : 1-8, 2021 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-34289797

RESUMO

OBJECTIVE: To investigate the application value and limitations of fluorescence in situ hybridization (FISH) in prenatal diagnosis of positive results for trisomies 13, 18, 21 (T13, T18, T21) and sex chromosome aneuploidies (SCAs) indicated by noninvasive prenatal screening (NIPS). METHODS: Samples from women who underwent prenatal diagnosis for the indication of positive NIPS of T13, T18, T21, and SCAs were collected. Each sample was split into two for both karyotype analysis and FISH analysis. The efficiency and consistency of FISH were assessed for the detection of chromosome abnormalities in the indications of positive NIPS results compared with karyotyping. RESULTS: A total of 649 pregnant women who scored positive for clinical significance of fetal chromosome abnormalities by NIPS were enrolled in our study, including T 13 (6%), T18 (14.3%), T21 (44.7%), SCAs (35.0%). From the following diagnostic test, the positive predictive value (PPV) of NIPS for T13, T18, T21, and SCAs was 17.9, 60.2, 89.3, and 43.6% respectively. FISH analysis was successful in all samples. Compared with karyotyping, the sensitivity and specificity were 98.3 and 100%, respectively. 95.7% (621/649) were fully concordant with karyotyping. 3.2% (21/649) cases were incompletely concordant with the karyotyping, among these cases, the FISH analysis identified all the aneuploidies, but karyotyping analysis provided more information about the chromosomal structure. There were 7 cases (1.1%, 7/649) of anomalies diagnosed by karyotype but missed out by FISH, all of which occurred in cases with the indication of SCAs. If the indications were confined to cases with a positive NIPS of T13, T18, T21, the diagnostic consistency of the two methods almost perfectly agree, and all the aneuploidies were detected by the FISH assay. FISH analysis was highly consistent in determining whether the fetus was euploid or not in the prenatal diagnosis for the patients with positive NIPS results compared with karyotyping (kappa= 0.976, p < .01). CONCLUSION: For the prenatal diagnostic indications of positive NIPS of T13, T18, T21, and SCAs, FISH was equally efficacious in identifying aneuploidies and provided a quick diagnosis to alleviate anxiety. However, the missed risk of FISH analysis for structural chromosomal abnormalities should be taken seriously and fully informed during genetic counseling.

4.
J Obstet Gynaecol Res ; 47(2): 827-832, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33197964

RESUMO

Clinical manifestations of deletion 18p syndrome vary a lot, which makes it easily overlooked in the clinical practice. Familial transmission of deletion 18p syndrome is rare. We report a Chinese familial deletion 18p syndrome, which was diagnosed by anatomizing the underlying reason for the discrepancy between noninvasive prenatal testing (NIPT) and prenatal diagnosis. A 35-year-old pregnant woman was recruited to our center owing to the abnormal NIPT result with a high risk of chromosome 18 monosomy. However, the karyotype of the fetus was normal after amniocentesis. Further analysis indicated that the pregnant woman herself had an abnormal karyotype of 46,XX,del(18)(p11.2), (arr18p11.32p11.21[136,227-15,099,116]×1) and her first 12-year-old son had got the same deletion of 18p as her. A distinct phenotype variability was noted although they share identical deletion. We consider that adequate clinical genetic counseling is vital for women with adverse pregnancy history before getting pregnant. Maternal CNVs may be one of the main causes of the false-positive result on NIPT. NIPT, especially extended NIPT may provide extra valuable evidence when used as routine prenatal screening method.


Assuntos
Transtornos Cromossômicos , Teste Pré-Natal não Invasivo , Adulto , Criança , China , Deleção Cromossômica , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Cromossomos Humanos Par 18 , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal
5.
Medicine (Baltimore) ; 99(29): e20848, 2020 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-32702826

RESUMO

RATIONALE: Non-invasive prenatal testing (NIPT) is an accurate screening method with high specificity and sensitivity and a low false-positive rate of trisomy 21, 18, and 13. However, false-negative NIPT results could also limit the clinical application of NIPT. PATIENT CONCERNS: A 34-year-old primigravida woman who underwent NIPT at 16 + 3 weeks' gestation was identified as being at high risk for fetal trisomy X (47, XXX). Fetal cardiac defect and hand posture were observed during prenatal ultrasound examination at the 23rd week of gestation. DIAGNOSES: Amniocentesis conducted at the 24th week of gestation. Fetal karyotyping and FISH identified karyotype 48, XXX, + 18, which indicated that the NIPT failed to detect trisomy 18 in this case. INTERVENTIONS: The couple decided to terminate pregnancy at the 26th week of gestation and was willing to undergo further examinations. OUTCOMES: Discordant results between fetus with trisomy 18 and placenta with mosaic T18 were further identified with massive parallel sequencing, which might be due to that the fetal cell-free DNA in maternal plasma for NIPT that was assessed principally originated from the trophoblast cells. LESSONS: The presence of trisomy 18 mosaicism in the placenta might be the reason for the false-negative NIPT result in this case of double aneuploidy with 48, XXX, + 18, karyotype. Although the NIPT is a valuable screening method that has evident advantages in prenatal aneuploidy screening for certain chromosomal abnormalities compared to other methods, it is not a "diagnostic test" yet.


Assuntos
Aneuploidia , Testes Genéticos , Mosaicismo , Placenta , Diagnóstico Pré-Natal , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Amniocentese , Reações Falso-Negativas , Feminino , Humanos , Cariótipo , Gravidez , Análise de Sequência de DNA
6.
Ecotoxicol Environ Saf ; 201: 110804, 2020 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-32502907

RESUMO

Phenanthrene (PHE) is harmful to human health and is difficult to be eliminated from environment. In this study, an aerobic bacterium capable of use PHE as a sole carbon source and energy was isolated and classified as Klebsiella sp. PD3 according to 16S rDNA analysis. The degradation efficiency of PHE reached to about 78.6% after 12 days of incubation with strain PD3. Identification of metabolites formed during PHE degradation process by this strain was carried out by GC-MS. The first degradation step of PHE by PD3 was proposed to generate 1-hydroxy-2-naphthoic acid. Two subsequent different routes for the metabolism of 1-hydroxy-2-naphthoic acid were proposed. Strain PD3 also showed two plant growth promoting properties like phosphate solubilization and ACC deaminase activity. Inoculation with Klebsiella sp. PD3 significantly improved growth performance, biomass production, seed germination rate, photosynthetic capacity, antioxidant levels, relative water content and chlorophyll accumulation in rice (Oryza sativa L.) plants under PHE stress conditions in comparison with non-inoculation treatment. Moreover, PD3-inoculated rice showed lower ROS accumulation, ethylene production, ACC content, ACC oxidase activity and electrolyte leakage under PHE treatment compared to non-inoculated ones. The combination use of rice plants and strain PD3 was also shown to enhance the removal efficiency of PHE from the soil and decline the PHE accumulation in plants. Synergistic use of plants and bacteria with PHE degradation ability and PGPR attributes to remediate the PHE-contaminated soil will be an important and effective way in the phytoremediation of PHE-contaminated soils.


Assuntos
Adaptação Fisiológica , Klebsiella/metabolismo , Oryza/crescimento & desenvolvimento , Fenantrenos/análise , Microbiologia do Solo , Poluentes do Solo/análise , Biodegradação Ambiental , Clorofila/metabolismo , Etilenos/metabolismo , Klebsiella/isolamento & purificação , Oryza/metabolismo , Oryza/microbiologia , Estresse Oxidativo/efeitos dos fármacos , Fenantrenos/metabolismo , Solo/química , Poluentes do Solo/metabolismo
7.
Exp Ther Med ; 11(4): 1516-1518, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27073475

RESUMO

Waardenburg syndrome (WS) is an autosomal dominant disorder with varying degrees of sensorineural hearing loss, and accumulation of pigmentation in hair, skin and iris. There are four types of WS (WS1-4) with differing characteristics. Mutations in six genes [paired box gene 3 (PAX3), microphthalmia-associated transcription factor (MITF), endothelin 3 (END3), endothelin receptor type B (EDNRB), SRY (sex determining region Y)-box 10 (SOX10) and snail homolog 2 (SNAI2)] have been identified to be associated with the various types. This case report describes the investigation of genetic mutations in three patients with WS2 from a single family. Genomic DNA was extracted, and the six WS-related genes were sequenced using next-generation sequencing technology. In addition to mutations in PAX3, EDNRB and SOX10, a novel heterozygous MITF mutation, p.Δ315Arg (c.944_946delGAA) on exon 8 was identified. This is predicted to be a candidate disease-causing mutation that may affect the structure and function of the enzyme.

8.
Exp Ther Med ; 10(2): 773-777, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26622392

RESUMO

Short tandem repeat (STR) markers, also known as microsatellites, are extensively used in mapping studies, forensics and disease diagnosis due to their small dimension and low mutation and high polymorphism rates. In recent years quantitative fluorescence polymerase chain reaction (QF-PCR) has been successfully used to amplify STR markers in the prenatal diagnosis of common chromosomal abnormalities. This method provides a diagnosis of common aneuploidies 24-48 h after sampling with low error rates and cost; however, the size of different alleles, frequency, heterozygosity and distribution of STR markers vary among different populations. In the present study three STR markers, D13S305, D13S631 and D13S634, on chromosome 13 were analyzed in 350 unrelated individuals (200 males and 150 females) from the Han population of Tianjin, China using QF-PCR. Eleven, seven and 11 alleles of each marker were observed, respectively. The frequencies of the genotypes were in good agreement with Hardy-Weinberg equilibrium (P>0.05). The results showed that these three STR markers were highly polymorphic in the Han population of Tianjin, China. The study has provided basic data for use in the prenatal diagnosis of Patau syndrome.

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