Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome

The front cover image is based on the Research Letter Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome by Aldesia Provenzano et al., https://doi.org/10.1002/pd.5700 .

     

Cover Image

The cover image is based on the Original Article Noninvasive prenatal paternity testing by means of SNP-based targeted sequencing by Jacqueline Chor Wing Tam et al., https://doi.org/10.1002/pd.5595 .

     

Progress of environmental research in China from 2000 to 2019: Case studies of JES and ES&T

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Exomphalos without other prenatally detected anomalies: Perinatal outcomes from 22 years of population-based data

Objective

To ascertain the perinatal outcomes for an apparently isolated exomphalos detected by prenatal ultrasound.

Method

Our dataset captures cases from 614 321 births in the Wessex region of England and the Channel Isles on all cases of pre- or postnatally diagnosed exomphalos from 1994 to 2015. Ascertainment was >95%.

Results

Three hundred and thirty five cases were reported to the register: 28 (8%) were not detected prenatally, 18 (6%) had already died in utero, 169 (55%) cases were found to have additional anomalies on first tertiary ultrasound scan and one case was lost to follow-up. Therefore 119 (39%) cases had an apparently isolated exomphalos. Of the 119 cases with only an exomphalos detected on first tertiary ultrasound scan, 25 (21%) had a chromosome abnormality. Of those with a normal or untested karyotype, 61% were confirmed to be an isolated anomaly after birth, 13% had an additional heart abnormality, 9% had Beckwith-Wiedemann syndrome and 11% had additional problems diagnosed postnatally.

Conclusion

Our large population-based dataset with an average of 1 year's postnatal follow-up suggests that more than one-third of apparently isolated prenatal cases of exomphalos will have an additional finding detected after birth. These data should help assist clinicians in their prenatal counseling.

     

Adsorption performance of CMK-3 and C-FDU-15 in NO removal at low temperature

CMK-3 and C-FDU-15 samples were synthesized using hard-templating and evaporationinduced self-assembly(EISA) methods,respectively.The pore structures of CMK-3 and CFDU-15 as well as commercial activated carbon were characterized by means of X-ray diffraction,field emission scanning electron microscopy,transmission electron microscopy,and N_2 adsorption–desorption.Adsorption of NO was investigated by means of thermogravimetric analysis,temperature-programmed desorption of NO + O_2,and in situ diffuse reflectance Fourier transform infrared spectroscopy.The results show that the CMK-3 and C-FDU-15 materials possessed ordered and uniform structures.The coadsorption capacity of NO and O_2 decreased in the sequence CMK-3(88.6 mg/g) C-FDU-15(71.7 mg/g) AC(25.3 mg/g).There were two main adsorption species on CMK-3 and CFDU-15:nitrite and nitrate.Nitrite is converted to nitrate easily.However,the adsorption species were more complex on AC,with nitrite being the main species.Moreover,CMK-3 and C-FDU-15 exhibit excellent regeneration efficiency compared with AC.The excellent NO adsorption performance of CMK-3 and C-FDU-15 was associated with their ordered mesoporous structures and high surface areas.The research provides more options for NO adsorption in the future.     

Current status of applying microwave-associated catalysis for the degradation of organics in aqueous phase – A review

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In situ preparation of g-C3N4/Bi4O5I2 complex and its elevated photoactivity in Methyl Orange degradation under visible light

A graphite carbon nitride(g-C_3N_4) modified Bi_4O_5I_2 composite was successfully prepared insitu via the thermal treatment of a g-C_3N_4/Bi OI precursor at 400°C for 3 hr.The as-prepared g-C_3N_4/Bi_4O_5I_2 showed high photocatalytic performance in Methyl Orange(MO) degradation under visible light.The best sample presented a degradation rate of 0.164 min~(-1),which is 3.2 and 82 times as high as that of Bi_4O_5I_2 and g-C_3N_4,respectively.The g-C_3N_4/Bi_4O_5I_2 was characterized by X-ray powder diffractometer(XRD),scanning electron microscopy(SEM),transmission electron microscopy(TEM),Raman,X-ray photoelectron spectroscopy(XPS),ultraviolet-visible diffuse reflectance spectra(DRS),electrochemical impedance spectroscopy(EIS) and transient photocurrent response in order to explain the enhanced photoactivity.Results indicated that the decoration with a small amount of g-C_3N_4 influenced the specific surface area only slightly.Nevertheless,the capability for absorbing visible light was improved measurably,which was beneficial to the MO degradation.On top of that,a strong interaction between g-C_3N_4 and Bi_4O_5I_2 was detected.This interplay promoted the formation of a favorable heterojunction structure and thereby enhanced the charge separation.Thus,the g-C_3N_4/Bi_4O_5I_2 composite presented greater charge separation efficiency and much better photocatalytic performance than Bi_4O_5I_2.Additionally,g-C_3N_4/Bi_4O_5I_2 also presented high stability.·O_2~-and holes were verified to be the main reactive species.     

Robust magnetic laccase-mimicking nanozyme for oxidizing o-phenylenediamine and removing phenolic pollutants

In this study, we report a novel magnetic biomimetic nanozyme(Fe_3O_4@Cu/GMP(guanosine5′-monophosphate)) with high laccase-like activity, which could oxidize toxic ophenylenediamine(OPD) and remove phenolic compounds.The magnetic laccase-like nanozyme was readily obtained via complexed Cu~(2+)and GMP that grew on the surface of magnetic Fe_3O_4 nanoparticles.The prepared Fe_3O_4@Cu/GMP catalyst could be magnetically recycled for at least five cycles while still retaining above 70% activity.As a laccase mimic,Fe_3O_4@Cu/GMP had more activity and robust stability than natural laccase for the oxidization of OPD.Fe_3O_4@Cu/GMP retained about 90% residual activity at 90℃ and showed little change at pH 3–9, and the nanozyme kept its excellent activity after long-term storage.Meanwhile, Fe_3O_4@Cu/GMP had better activity for removing phenolic compounds, and the removal of naphthol was more than 95%.Consequently, the proposed Fe_3O_4@Cu/GMP nanozyme shows potential for use as a robust catalyst for applications in environmental remediation.     

Self-feedback LSTM regression model for real-time particle source apportionment

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Cell-free DNA screening in twin pregnancies: A more accurate and reliable screening tool

Objective

Outcome data from cell-free DNA (cfDNA) screening in twin gestations are limited. This study adds an appreciable number of confirmed outcomes to the literature, and assesses performance of cfDNA screening in twins over a 4.5-year period at one large clinical laboratory.

Method

Prenatal cytogenetic and SNP microarray results were cross-referenced with cfDNA results for twin pregnancies, yielding 422 matched cases. Using diagnostic results as truth, performance of cfDNA screening in this population was assessed.

Results

Of the 422 twin pregnancies with both cfDNA and diagnostic results, 3 specimens failed amniocyte analysis, and 48 samples (11.5%) were nonreportable from the initial cfDNA draw. Analysis of the 371 reportable samples demonstrated a collective sensitivity of 98.7% and specificity of 93.2% for trisomies 21/18/13. Positive predictive values (PPVs) in this study population, which is enriched for aneuploidy, were 78.7%, 84.6%, and 66.7% for trisomy 21, 18, and 13, respectively.

Conclusion

CfDNA screening in a cohort of twin pregnancies with matched diagnostic results showed superior performance compared to traditional serum biochemical screening in twins. This study adds to a growing body of evidence suggesting that cfDNA is an accurate and reliable screening tool for the major trisomies in twin pregnancies.

     

Intermittent absent and reversed umbilical artery flows in appropriately grown monochorionic diamniotic twins in relation to proximate cord insertion: A harmful combination?

Objective

To compare the prevalence of intermittent absent or reversed end-diastolic flow (iAREDF) in the umbilical artery in appropriately grown monochorionic diamniotic (MCDA) pregnancies with and without proximate cord insertion (PCI), and to evaluate pregnancy outcome.

Methods

The prevalence of iAREDF in MCDA pregnancies with PCI (n = 11) was compared with a control group without PCI (n = 33). PCI was defined as a distance between the cord insertions below the fifth percentile. Placental sharing, number, and diameter of anastomoses were assessed by placental examination. Pregnancy outcome was evaluated.

Results

iAREDF was present in 7/11 PCI pregnancies, compared with 0/33 in the control group (P ≤ .01). All PCI pregnancies and 94% of controls had arterioarterial (AA)-anastomoses (P = .56), the diameter was larger in the PCI group, respectively 3.3 vs 2.1 mm (P = .03). Three cases with iAREDF had adverse outcome, two resulted in fetal death of which one with brain damage in the co-twin, another underwent early premature emergency section for fetal distress.

Conclusion

iAREDF occurs in a large proportion of MCDA pregnancies with PCI and is related to the diameter of the AA anastomosis. We hypothesize that iAREDF in appropriately grown MCDA twin pregnancies reflects an unstable hemodynamic balance with an increased risk for fetal deterioration. Whether outcome in these pregnancies can be improved by altered management requires further investigation.

     

Population screening for gestational hypertensive disorders using maternal,fetal and placental characteristics: A population-based prospective cohort study

Objective

To determine screening performance of maternal, fetal and placental characteristics for selecting pregnancies at risk of gestational hypertension and preeclampsia in a low-risk multi-ethnic population.

Method

In a prospective population-based cohort among 7124 pregnant women, we collected maternal characteristics including body mass index, ethnicity, parity, smoking and blood pressure in early-pregnancy. Fetal characteristics included second and third trimester estimated fetal weight and sex determined by ultrasound. Placental characteristics included first and second trimester placental growth factor concentrations and second and third trimester uterine artery resistance indices.

Results

Maternal characteristics provided the best screening result for gestational hypertension (area-under-the-curve [AUC] 0.79 [95% Confidence interval {CI} 0.76-0.81]) with 40% sensitivity at 90% specificity. For preeclampsia, the maternal characteristics model led to a screening performance of AUC 0.74 (95% CI 0.70-0.78) with 33% sensitivity at 90% specificity. Addition of second and third trimester placental ultrasound characteristics only improved screening performance for preeclampsia (AUC 0.78 [95% CI 0.75-0.82], with 48% sensitivity at 90% specificity).

Conclusion

Routinely measured maternal characteristics, known at the start of pregnancy, can be used in screening for pregnancies at risk of gestational hypertension or preeclampsia within a low-risk multi-ethnic population. Addition of combined second and third trimester placental ultrasound characteristics only improved screening for preeclampsia.

     

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Background

Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity-related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG).

Methods

Eight genetic counselors (GCs) and four medical geneticists (MDs) applied the severity algorithm to subsets of 176 genes. MDs and GCs then determined by group consensus how each of these disease traits mapped to ACOG severity criteria, enabling determination of the number of ACOG severity criteria met by each gene.

Results

Upon consensus GC and MD application of the severity algorithm, 68 (39%) genes were classified as profound, 71 (40%) as severe, 36 (20%) as moderate, and one (1%) as mild. After mapping of disease traits to ACOG severity criteria, 170 out of 176 genes (96.6%) were found to meet at least one of the four criteria, 129 genes (73.3%) met at least two, 73 genes (41.5%) met at least three, and 17 genes (9.7%) met all four.

Conclusion

This study classified the severity of a large set of Mendelian genes by collaborative clinical expert application of a trait-based algorithm. Further, it operationalized difficult to interpret ACOG severity criteria via mapping of disease traits, thereby promoting consistency of ACOG criteria interpretation.

     

Monodisperse amino-modified nanosized zero-valent iron for selective and recyclable removal of TNT: Synthesis, characterization, and removal mechanism

Nitroaromatic explosives are major pollutants produced during wars that cause serious environmental and health problems. The removal of a typical nitroaromatic explosive, 2,4,6-trinitrotoluene (TNT), from aqueous solution, was conducted using a new recyclable magnetic nano-adsorbent ([email protected]₂NH₂). This adsorbent was prepared by grafting amino groups onto [email protected]₂ particles with a well-defined core-shell structure and demonstrated monodispersity in solution. The removal performance of the nano-adsorbent towards TNT was found to be 2.57 and 4.92 times higher than that towards two analogous explosives, 2,4-dinitrotoluene (2,4-DNT) and 2-nitrotoluene (2-NT), respectively, under neutral conditions. The difference in the removal performance among the three compounds was further compared in terms of the effects of different conditions (pH value, ionic strength, humic acid concentration, adsorbent modification degree and dosage, etc.) and the electrostatic potential distributions of the three compounds. The most significant elevation is owing to modification of amino on [email protected]₂ which made a 20.7% increase in adsorption efficiency of TNT. The experimental data were well fit by the pseudo-second-order kinetic model and the Freundlich adsorption isotherm model, indicating multilayer adsorption on a heterogeneous surface. The experimental results and theoretical considerations show that the interactions between [email protected]₂NH₂ NPs and TNT correspond to dipole-dipole and hydrophobic interactions. These interactions should be considered in the design of an adsorbent. Furthermore, the adaptability to aqueous environment and excellent regeneration capacity of [email protected]₂NH₂ NPs makes these remediation materials promising for applications.     

A metal-OH group modification strategy to prepare highly-hydrophobic MIL-53-Al for efficient acetone capture under humid conditions

A series of highly-hydrophobic MIL-53-Al (MIL = Materials of Institut Lavoisier) frameworks synthesized via decoration of the Al-OH groups by alkyl phosphonic acid were developed as adsorbents for removing acetone from humid gas streams. The newly prepared materials were characterized by X-ray diffraction (XRD), Fourier transform infrared spectroscopy (FT-IR), scanning electron microscope (SEM), N₂ adsorption-desorption and thermogravimetric analysis (TGA). Their adsorption behaviors toward acetone vapor under dry and wet conditions were studied subsequently. Results showed that alkyl phosphonic acid was successfully grafted into MIL-53-Al skeleton through coordinating interaction with Al³⁺ generating [email protected]_x (x = 12, 14, 18). The [email protected]_x exhibited similar crystal structure and thermal stability to parent MIL-53-Al. Furthermore, the modified materials showed significantly enhanced hydrophobicity. The water vapor uptake of [email protected]₁₄ decreased by 72.55% at 75% relative humidity (RH). Dynamic adsorption experiments demonstrated that water vapor had almost no effect on the acetone adsorption performance of [email protected]₁₄. Under the condition of 90% RH, the acetone adsorption capacity of [email protected]₁₄ was 102.98% higher than that of MIL-53-Al. Notably, [email protected]₁₄ presented excellent adsorption reversibility and regeneration performance in 10 adsorption-desorption cycles. Taken together, the strategy of metal-OH group modification is an attractive way to improve the acetone adsorption performance over metal-organic frameworks (MOFs) under humid conditions. Besides, [email protected]₁₄ would be deemed as a promising candidate for capturing acetone in high moisture environment.     

Simplified creation of polyester fabric supported Fe-based MOFs by an industrialized dyeing process: Conditions optimization, photocatalytics activity and polyvinyl alcohol removal

MIL-53(Fe) was successfully prepared and deposited on the surface carboxylated polyester (PET) fiber by an optimized conventional solvothermal or industrialized high temperature pressure exhaustion (HTPE) process to develop a PET fiber supported MIL-53(Fe) photocatalyst ([email protected]) for the degradation of polyvinyl alcohol (PVA) in water under light emitting diode (LED) visible irradiation. On the basis of several characterizations, [email protected] was tested for the photocalytic ability and degradation mechanism. It was found that temperature elevation significantly enhanced the formation and deposition of MIL-53(Fe) with better photocatalytic activity. However, higher temperature than 130°C was not in favor of its photocatalytic activity. Increasing the number of surface carboxyl groups of the modified PET fiber could cause a liner improvement in MIL-53(Fe) loading content and photocatalytic ability. High visible irradiation intensity also dramatically increased photocatalytic ability and PVA degradation efficiency of [email protected] Na₂S₂O₈ was used to replace H₂O₂ as electron acceptor for further promoting PVA degradation in this system. [email protected] prepared by HTPE process showed higher MIL-53(Fe) loading content and slightly lower PVA degradation efficiency than that prepared by solvothermal process at the same conditions. These findings provided a practical strategy for the large-scale production of the supported MIL-53(Fe) as a photocatalyst in the future.     

Carbamazepine degradation by heterogeneous activation of peroxymonosulfate with lanthanum cobaltite perovskite: Performance, mechanism and toxicity

The widely used carbamazepine(CBZ) is one of the most persistent pharmaceuticals and suffers insufficient removal efficiency by conventional wastewater treatment.A synthesized Co-based perovskite(LaCoO_3) was used to activate peroxymonosulfate(PMS) in order to degrade CBZ.Results showed that LaCoO_3 exhibited an excellent performance in PMS activation and CBZ degradation at neutral pH,with low cobalt leaching.The results of FT-IR and XPS verified the high structurally and chemically stability of LaCoO_3 in PMS activation.Electron spin resonance(ESR) analysis suggested the generation of radical species,such as sulfate radicals(SO_4·~-) and hydroxyl radicals(·OH).Radical quenching experiments further revealed the responsibility of SO_4·~-as the dominant oxidant for CBZ oxidation.Ten products were detected via the oxidation of CBZ,with the olefinic double bond attacked by SO_4·~-as the initial step.Hydroxylation,hydrolysis,cyclization and dehydration were involved along the transformation of CBZ.The toxicity of CBZ solution was significantly reduced after treating by PMS/LaCoO_3.     

Removal of Ni(II) from strongly acidic wastewater by chelating precipitation and recovery of NiO from the precipitates

Strongly acidic wastewater produced in nonferrous metal smelting industries often contains high concentrations of Ni(II), which is a valuable metal. In this study, the precipitation of Ni(II) from strongly acidic wastewater using sodium dimethyldithiocarbamate (DDTC) as the precipitant was evaluated. The effects of various factors on precipitation were investigated, and the precipitation mechanism was also identified. Finally, the nickel in the precipitates was recovered following a pyrometallurgical method. The results show that, under optimised conditions (DDTC:Ni(II) molar ratio = 4:1; temperature = 25 °C), the Ni(II) removal efficiency reached 99.3% after 10 min. In strongly acidic wastewater, the dithiocarbamate group of DDTC can react with Ni(II) to form DDTCNi precipitates. Further recovery experiments revealed that high-purity NiO can be obtained by the calcination of DDTCNi precipitates, with the nickel recovery efficiency reaching 98.2%. The gas released during the calcination process was composed of NO₂, CS₂, H₂O, CO₂, and SO₂. These results provide a basis for an effective Ni(II) recovery method from strongly acidic wastewater.     

Nickel phosphide on Ni foam as anode and peroxymonosulfate as the chemical oxidizer for effective direct urea fuel cell

The direct urea fuel cell (DUFC) is a low cost and competitive approach for contemporaneous urine or urea-contaminated wastewater treatment and electricity generation. However, the lack of efficient urea oxidation reaction (UOR) electrocatalysts and suitable electron acceptors remains a challenge for practical applications. Here, we developed a DUFC system using Ni₂[email protected] foam as the anode and peroxymonosulfate (PMS) as the chemical oxidizers. The Ni₂[email protected] foam anode showed a high oxidation activity for UOR with an onset potential of 0.30 V vs. Ag/AgCl and Tafel slope of 34.4 mV/dec. PMS with high theoretical potential improved the cell voltage to 1.43 V. A power density of DUFC up to 4.91 mW/cm² was achieved using PMS at room temperature, which was approximately twice as high as using H₂O₂ (2.38 mW/cm²). Ni^II/Ni^III was the redox active species on the Ni₂P anode in the DUFC process, and Ni^II was electrochemically oxidized to Ni^III, which reverted to Ni^II by urea reduction. When real human urine was used as the fuel, a power density of 4.46 mW/cm² can be achieved at room temperature. This DUFC with high cell performance showed potential application in urea wastewater treatment.