The natural rubber industry consumes large volumes of water and annually releases wastewater with rich organic and inorganic loads. This wastewater is allowed for soil irrigation in developing countries. However, the pollutant composition in wastewater and its environmental effects remain unclear. Therefore, we aimed to assess the wastewater\'s physicochemical parameters, toxic organic pollutants, heavy metals, and phytotoxic and cytogenotoxic. The result revealed that values of comprehensive wastewater parameters were recorded as chemical oxygen demand (187432.1 mg/L), pH (4.23), total nitrogen (1157.1 mg/L), ammonia nitrogen (1113.0 mg/L), total phosphorus (1181.2 mg/L), Zn (593.3 mg/L), Cr (0.6127 mg/L), and Ni (0.2986 mg/L). The organic compounds detected by LC-MS were salbostatin, sirolimus, Gibberellin A34-catabolite, 1-(sn-glycero-3-phospho)-1D-myo-inositol, and methyldiphenylsilane. The toxicity of the identified toxic chemicals and heavy metals was confirmed by onion and mung bean phytotoxicity characterization tests. The wastewater affected the germination of mung bean seeds, reduced or inhibited the growth of onions, and induced various chromosomal aberrations in root apical meristems. Our study shows that the treatment of natural rubber wastewater needs to be improved, and the feasibility of irrigating soil with wastewater needs to be reconsidered.

OBJECTIVE: To investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT).
METHODS: The study retrospectively analyses pregnancies with NT ≥ 2.5 mm who underwent NIPT. Results of NT, NIPT, chromosomal diagnostic and pregnancy outcomes were collected.
RESULTS: Study group was composed of 1470 single pregnancies, including 864 with NT 2.5-2.9 mm, 350 with NT 3.0-3.4 mm and 256 with NT ≥ 3.5 mm. Non-significant differences were found in the positive predictive value (PPV) of NIPT between different cutoffs of NT. There was one false positive case with NT 4.3 mm, screening for 47,XYY in NIPT showed normal in diagnostic testing. For cases with normal NIPT results, the residual risk is 1:20 (5%, 95%CI: 0.1-10.1%) in fetuses with NT 3.0-3.4 mm and 1:15 (6.5%, 95%CI: 1.4%-11.5%) in fetuses with NT ≥ 3.5 mm. These false negative cases included one trisomy 21, seven pathogenic CNVs, one uniparental disomy and one single gene disorders.
CONCLUSIONS: Our findings demonstrated that the PPV of NIPT for screening chromosomal aberrations were similarly in different NT cutoffs, while false positive case does exist. After normal in NIPT, risk for chromosomal aberrations remained, especially pathogenic CNV and even common trisomy. Therefore, prenatal diagnosis was recommended and CMA was suggested to apply in pregnancies with NT ≥ 3.0 mm.

Chloroform is a widely used industrial chemical that can also pollute the environment. The aims of this study were to examine the potential cytotoxicity and genotoxicity of chloroform on plant cells, using the Vicia faba bioassay. Chloroform was evaluated at concentrations of 0.1, 0.5, 1, 2, and 5 mg·L-1. The following parameters were analyzed: the mitotic index (MI), micronucleus (MN) frequency, chromosomal aberration (CA) frequency, and malondialdehyde (MDA) content. The results showed that exposure to increasing concentrations of chloroform caused a decrease in MI and an increase in the frequency of MN in Vicia faba root tip cells, relative to their controls. Moreover, various types of CA, including C-mitosis, fragments, bridges, laggard chromosomes, and multipolar mitosis, were observed in the treated cells. The frequency of MN was positively correlated with the frequency of CA in exposure to 0.1-1 mg·L-1 chloroform. Furthermore, chloroform exposure induced membrane lipid peroxidation damage in the Vicia faba radicle, and a linear correlation was observed between the MDA content and the frequency of MN or CA. These findings indicated that chloroform exposure can result in oxidative stress, cytotoxicity, and genotoxicity in plant cells.

Interventional procedures (IPs) have been widely used to treat vascular anomalies (VA) in recent years. However, patients are exposed to low-dose X-ray ionizing radiation (IR) during these fluoroscopy-guided IPs. We collected clinical information and IR doses during IPs and measured biomarkers including γ-H2AX, chromosome aberrations (CA), and micronuclei (MN), which underpin radiation-induced DNA damage, from 74 pediatric patients before and after IPs. For the 74 children, the range of dose-area product (DAP) values was from 1.2 to 1754.6 Gy∙cm2, with a median value of 27.1 Gy∙cm2. DAP values were significantly higher in children with lesions in the head and neck than in the limbs and trunk; the age and weight of children revealed a strong positive correlation with DAP values. The treated patients as a group demonstrated an increase in all three endpoints relative to baseline following IPs. Children with vascular tumors have a higher risk of dicentric chromosome + centric ring (dic+r) and cytokinesis-block micronucleus (CBMN) after IPs than children with vascular malformations. The younger the patient, the greater the risk of CA after IPs. Moreover, rogue cells (RCs) were found in five children (approximately 10%) after IPs, and the rates of dic+r and CBMN were significantly higher than those of other children (Z = -3.576, p < 0.001). These results suggest that there may be some children with VA who are particularly sensitive to IR, but more data and more in-depth experiments will be needed to verify this in the future.

Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical feasibility studies of optical genome mapping in prenatal diagnosis are limited.
We retrospectively performed optical genome mapping analysis of amniotic fluid samples from 34 fetuses with various clinical indications and chromosomal aberrations detected through standard-of-care technologies, including karyotyping, fluorescence in situ hybridization, and/or chromosomal microarray analysis.
In total, we analyzed 46 chromosomal aberrations from 34 amniotic fluid samples, including 5 aneuploidies, 10 large copy number variations, 27 microdeletions/microduplications, 2 translocations, 1 isochromosome, and 1 region of homozygosity. Overall, 45 chromosomal aberrations could be confirmed by our customized analysis strategy. Optical genome mapping reached 97.8% concordant clinical diagnosis with standard-of-care methods for all chromosomal aberrations in a blinded fashion. Compared with the widely used chromosomal microarray analysis, optical genome mapping additionally determined the relative orientation and position of repetitive segments for seven cases with duplications or triplications. The additional information provided by optical genome mapping will be conducive to characterizing complex chromosomal rearrangements and allowing us to propose mechanisms to explain rearrangements and predict the genetic recurrence risk.
Our study highlights that optical genome mapping can provide comprehensive and accurate information on chromosomal aberrations in a single test, suggesting that optical genome mapping has the potential to become a promising cytogenetic tool for prenatal diagnosis.

Secondary acute myeloid leukemia (S-AML) patients generally have a poor prognosis, but the chromosomal aberrations of S-AML have been rarely reported. We aimed to explore the chromosomal aberrations and clinical significance in patients with S-AML.
The clinical characteristics and karyotypes of 26 patients with S-AML were retrospectively analyzed. The overall survival (OS) was measured from the time of the patients\' transition to AML (i.e., at S-AML diagnosis).
The study included 26 S-AML patients (13 males and 13 females), with a median age of 63 years (range, 20-77 years). They transformed from various hematologic malignancies or solid tumors; most of them were secondary to myelodysplastic syndrome (MDS). About 62% of the S-AML patients showed chromosomal aberrations. The serum lactate dehydrogenase (LDH) level in S-AML patients with abnormal karyotype was higher than those with normal karyotype. Apart from the differences in treatment regimens, S-AML patients with chromosomal aberrations had shorter OS (P < 0.05).
S-AML patients with abnormal karyotype have higher LDH levels and shorter OS than normal karyotype patients, and the OS of hypodiploidy was much shorter than hyperdiploid.

UNASSIGNED: To investigate the prenatal diagnostic value of chromosome microarray analysis (CMA) in fetuses with isolated or non-isolated umbilical cord cysts (UCCs) of various locations and numbers.
UNASSIGNED: Between November 2015 and November 2021, 45 pregnant women carrying fetuses with UCCs underwent amniocentesis and CMA. Fetal prognoses were followed from 6 months to 5 years.
UNASSIGNED: Five cases (11.1%, 5/45) of chromosomal aberrations were detected. No significant difference in total chromosome abnormalities was found between fetuses with isolated and non-isolated UCCs (13.3% [2/15] vs 10% [3/30]; p > .999). No common autosomal aneuploidies were found in fetuses with isolated UCCs. At follow-up, among 45 fetuses, there were 11 (24.4%) pregnancy terminations, 26 (57.8%) live healthy births, 4 (8.9%) postnatal UCC-related surgeries, and 4 (8.9%) live births of fetuses with other diseases. The frequency of postnatal surgeries of the infants with UCCs located adjacent to the anterior abdominal wall was higher than those located adjacent to the fetal surface of the placenta (30.8% [4/13] vs 0% [0/22]; p = .014). All 26 live healthy neonates and 4 neonates that underwent postnatal surgery had an overall good prognosis.
UNASSIGNED: For fetuses with isolated or non-isolated UCC, CMA could be a choice for parents after providing detailed information. Even when surgery was required, pregnancy outcomes and short- and long-term prognoses for fetuses with UCCs were favorable.

Chromosomal abnormalities are a common cause of spontaneous abortions, but conventional detection methods (karyotype, FISH, and chromosomal microarray [CMA]) have limitations, and many cryptic balanced chromosomal rearrangements are difficult to detect. We describe a couple who experienced a missed abortion, studied by CMA. CMA of the abortion tissue detected a 1.62-Mb duplication at 14q11.2 and a 5.09-Mb deletion at 21q11.2q21.1, while the couple seemed to have a normal karyotype. Combining the results of CMA, whole-genome sequencing (WGS) breakpoint analysis, Sanger sequencing, and FISH, we found that the father was a 46,XY,t(14;21)(q11.2;q21.1) balanced translocation carrier. Our results indicate that WGS is an efficient and accurate approach to map breakpoints of cryptic reciprocal balanced translocations undetectable by standard karyotype.

Steady-calcium formula (SCF), a functional food mixture with potential of joint care, contains five major ingredients. However, the uncertain cross-reactivity among these included ingredients cannot be excluded. Hence, it is important to ensure the safety of this mixture. In this study, the safety of SCF was evaluated through in vitro genotoxicity assessment and 28-day oral toxicity study in rats. The bacterial reverse mutation test and mammalian chromosome aberration test displayed that SCF did not induce mutagenicity and clastogenicity. The 28-day repeated dose assessment of SCF in rats revealed no mortality and adverse effects in clinical signs, body weight, urinalysis, hematology, organ weight, and histopathology at all treated groups. Although some significant changes were observed in food intake and parameters of serum biochemistry at the highest dose in males, they were not dose-related and considered to be within normal range. These findings indicate that SCF does not possess genotoxic potential and no obvious evidence of subacute toxicity. These results demonstrate for the first time that the genotoxicity and subacute toxicity for SCF are negative under our experimental conditions and the no observed adverse effect level (NOAEL) of SCF may be defined as at least 5470 mg/kg/day.

OBJECTIVE: To investigate the prenatal diagnostic value of chromosome microarray analysis (CMA) in fetuses presenting with ultrasound-based biliary tract system (BTS) anomalies.
METHODS: Amniocentesis was performed and CMA was applied in 271 pregnant women carrying fetuses with BTS abnormalities between April 2015 and December 2020. Pregnancy outcomes and fetal prognosis were followed from 1 to 6 years.
RESULTS: Sixteen cases (5.9%, 16/271) of chromosomal anomalies were detected. The detection rate of chromosomal abnormalities was significantly higher for fetuses with nonisolated BTS anomalies than for those with isolated BTS anomalies (9.0% vs. 0%, p = 0.0017). Follow-up results were obtained from 267 fetuses, including 25 cases of termination of pregnancy (9.4%), 237 live births (88.8%), and 5 (1.9%) neonatal demises. The incidence of congenital biliary atresia in the small gallbladder and nonvisualized gallbladder groups was 3.0% (1/33) and 9.5% (7/74), respectively; however, none was detected on postnatal ultrasound reexamination in the gallbladder enlargement or the other BTS groups.
CONCLUSIONS: An isolated BTS abnormality is not an indication for invasive prenatal chromosomal analysis. When combined with other ultrasonographic abnormalities, prenatal CMA should be provided. When a small or nonvisualized gallbladder is found prenatally, ultrasonography is limited in the differential diagnosis of congenital biliary atresia.