NT-2

Objective: To evaluate if the NT value of 2.5 mm ≤ NT < 3.0 mm is an appropriate indication for CMA tests among fetuses with isolated increased NT and NIPT is more suitable instead. Methods: A total of 442 fetuses with NT ≥ 2.5 mm were included, in which 241 fetuses underwent karyotype. CMA tests were then carried out when cytogenic analysis showed normal chromosomes and CNV status was compared between 2.5 mm ≤ NT < 3.0 mm and ≥3.0 mm subgroups. For the NIPT evaluation, 201 of 442 fetuses with smaller increased NT (2.5 mm ≤ NT < 3.0 mm) was examined by either NIPT or karyotype. Results: Of the 241 fetuses with NT ≥ 2.5 mm, 47(19.50%) were identified by karyotype with chromosomal abnormalities. Among 194 cases with normal karyotype, CMA unraveled additional CNVs in 16(8.25%) cases, including 3(1.55%) pathogenic CNVs, 2(1.03%) likely pathogenic CNVs and 11(5.67%) VOUS. After the subgroup analysis, however, only one case (1.16%) of likely pathogenic was identified by CMA among 86 fetuses with NT between 2.5 mm and 3.0 mm, whereas the rest of 15 CNV cases were all presented in fetuses with NT ≥ 3.0 mm. For the NIPT evaluation, the detection rate of 201 fetuses with isolated increased NT between 2.5 and 3.0 mm was 3.98%, which was indifferent to karyotype with the rate of 5%. In comparison with fetuses with 2.5-3.0 mm combined with other risks, the detection rate of karyotype was 26.92%. Conclusion: While no pathogenic CNVs were detected in fetuses, chromosomal aneuploidies and genomic imbalance were found to be the major type of abnormalities when NT was 2.5-3.0 mm. Therefore, our data suggested that CMA should not be recommended when fetuses with an NT value less than 3.0 mm. Instead, NIPT with similar rate of detection as karyotype was recommended for fetuses with isolated increased NT between 2.5 and 3.0 mm.

This work systematically studied the structure, magnetic and electronic properties of the MXene materials Nd2N and Nd2NT2 (T = OH, O, S, F, Cl, and Br) via first-principles calculations based on density functional theory. Results showed that Nd2NT2 (T = OH, O, S, F, Cl, and Br) have half-metallic characteristics whose half-metallic band gap width is higher than 1.70 eV. Its working function ranges from 1.83 to 6.50 eV. The effects of strain on its magnetic and electronic structures were evaluated. Results showed that the structure of Nd2NT2 (T = OH, O, S, and Br) transitions from a ferromagnetic half-metallic semiconductor to a ferromagnetic metallic and ferromagnetic semiconductor under different strains. By contrast, the structures of Nd2NF2 and Nd2NS2 were observed to transition from a half-metallic semiconductor to a ferromagnetic metallic semiconductor under different strains. Calculations of the electronic properties of different proportions of the surface functional groups of Nd2NT x (T = OH, O, and F; x = 0.5, 1(I, II), and 1.5) revealed that Nd2NO1.5 has the characteristics of semiconductors, whereas Nd2NO(II) possesses the characteristics of half-metallic semiconductors. The other structures were observed to exhibit the characteristics of metallic semiconductors. Prediction of Nd2NT2 (T = OH, O, S, F, Cl, and Br) increases the types of lanthanide MXene materials. They are appropriate candidate materials for preparing spintronic devices.

Increased fetal nuchal translucency (NT) is a common ultrasonic manifestation during pregnancy. Many studies have confirmed that NT ≥ 3 mm is a high risk factor for adverse pregnancy outcome. However, when NT is between 2.5 and 2.9 mm, will it increase the risk of fetal chromosome abnormalities and other diseases? What is the most appropriate method for prenatal chromosome evaluation? At present, it has not been widely reported in the literature, and the conclusion is also controversial. This prospective cohort study included fetal samples from women who underwent amniocentesis from 2017 to 2020. The samples of the experimental group were fetuses with NT ≥ 2.5 mm at 11 to 13 + 6 weeks of gestation, with or without ultrasonographic anomaly. The control group contained fetal NT < 2.5 mm without ultrasonographic anomalies. All amniotic fluid samples were tested by copy number variants sequencing. In 262 fetal samples with isolated NT from 2.5 to 2.9 mm, the detection rate of aneuploidy was 3.4% (9/262), and the risk of aneuploidy was significantly higher than that of the control group (1.4%, 32/2331) (relative risk 2.5, 95% CI 1.2-5.2). The detection rates of other pathogenic/likely pathogenic copy number variants in the two groups were 0.8% (2/262) and 1.3% (31/2331), respectively, which was not statistically significant (relative risk 0.6, 95% CI 0.1-2.4). Our results showed that isolated NT from 2.5 to 2.9 mm increased the risk of fetal chromosome aneuploidy. Therefore, noninvasive prenatal screening is recommended as the first choice for prenatal chromosome evaluation in this population.