Objective:To explore the efficacy of non-invasive prenatal testing (NIPT) of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency (NT).Methods:A retrospective analysis was conducted on 1 184 singleton pregnant women that underwent chromosomal microarray analysis (CMA) at Nanjing Drum Tower Hospital, Nanjing University Medical School from June 2014 to December 2022 due to fetal increased NT (≥3.0 mm). These subjects were categorized based on whether the increased NT was accompanied by other high-risk factors into isolated increased NT without advanced maternal age (further subdivided into 3.0 mm≤NT<3.5 mm, 3.5 mm≤NT<4.0 mm, and NT≥4.0 mm subgroups), isolated increased NT with advanced maternal age, increased NT with nasal bone abnormalities, increased NT with other soft markers, and increased NT with structural abnormalities groups. Assuming the sensitivity and specificity of NIPT and expanded NIPT at this center were both 100%, genomic abnormalities outside the detection range of NIPT or expanded NIPT were termed as residual risk of NIPT or expanded NIPT. Chi-square test and Bonferroni correction were used to compare the residual risks of NIPT and expanded NIPT among the three subgroups of isolated increased NT without advanced maternal age group. Results:(1) In the group of isolated increased NT without advanced maternal age: For the 3.0 mm≤NT<3.5 mm subgroup (329 cases), 19 abnormalities were detected by CMA [12 cases of chromosome aneuploidy, seven cases of pathogenic copy number variation (pCNV)], with residual risks of NIPT and expanded NIPT both at 2.1% (7/329). For the 3.5 mm≤NT<4.0 mm subgroup (173 cases), 29 abnormalities were detected by CMA (17 cases of chromosome aneuploidy, nine cases of pCNV, three cases of chromosome unbalanced translocation), with residual risks of NIPT at 8.1% (14/173) and expanded NIPT at 7.5% (13/173). For the NT≥4.0 mm subgroup (270 cases), CMA detected abnormalities in 70 cases (50 cases of chromosome aneuploidy, 16 cases of pCNV, three cases of unbalanced translocations, and one case of sex chromosome abnormality combined with pCNV). The residual risk of NIPT was 12.2% (33/270), and the residual risk of expanded NIPT was 7.0% (19/270). The residual risks of NIPT and expanded NIPT in the 3.0 mm≤NT<3.5 mm subgroup were lower than those in the 3.5 mm≤NT<4.0 mm and NT≥4.0 mm subgroups (Bonferroni correction, all P<0.017). (2) In the group of 92 cases with isolated increased NT and advanced maternal age, CMA detected abnormalities in 36 cases (29 cases of chromosome aneuploidy, five cases of pCNV, one case of trisomy 21 combined with sex chromosome abnormality, and one case of trisomy 18 combined with sex chromosome abnormality). The residual risk of NIPT was 7.6% (7/92), and that of expanded NIPT was 5.4% (5/92). (3) In the group of 49 cases with increased NT combined with nasal bone abnormalities, CMA detected abnormalities in 24 cases (23 cases of chromosome aneuploidy and one case of pCNV). The residual risks of NIPT and expanded NIPT were both 2.0% (1/49). (4) In the group of 26 cases with increased NT combined with other soft markers, CMA detected abnormalities in nine cases (six cases of chromosome aneuploidy, one case of pCNV, and two cases of chromosome unbalanced translocations). The residual risks of NIPT and expanded NIPT were both 11.5% (3/26). (5) In the group of 245 cases with increased NT combined with structural abnormalities, CMA detected abnormalities in 121 cases (107 cases of chromosome aneuploidy, seven cases of pCNV, four cases of chromosome unbalanced translocations, one case of trisomy 21 combined with trisomy 20, and two cases of trisomy 18 combined with sex chromosome abnormalities). The residual risk of NIPT was 16.7% (41/245), and that of expanded NIPT was 4.1% (10/245). Conclusions:For isolated NT≥3.5 mm or NT≥3.0 mm combined with other high-risk factors, chorionic villus sampling in early pregnancy can be recommended, advancing the timing of prenatal diagnosis from the second trimester to the first trimester. For fetuses with isolated 3.0 mm≤NT<3.5 mm, the 2.1% residual risk of chromosomal abnormalities should be fully informed during counseling, even if the risk of NIPT is low.

Objective:To investigate the predictive value of transabdominal uterine electromyography for pre-term labor after tocolysis in women with threatened preterm labor.Methods:A total of 48 pregnant women at 28-34 weeks of gestation diagnosed with threatened preterm labor and admitted to The Fourth Affiliated Hospital of Soo-chow University from January to September 2023 were included.According to the response to tocolysis and whether the pregnancy was prolonged for at least 48 h,women were divided into two groups:non-preterm birth within 48 h(n=35)and preterm birth within 48 h(n=13).Uterine electromyography parameters and difference were compared before and after tocolytic therapy in two groups.Univariate Logistic regression was performed to predict the related factors of preterm birth within 48 h after the using of tocolysis in pregnant women with threat-ened preterm birth by uterine electromyography,and receiver operating characteristic(ROC)curve was per-formed to evaluate their performance.Results:Compared to before treatment with tocolysis,after therapy,in the non-preterm birth within 48 h group,significant reductions in contraction frequency,area,duration and amplitude were observed(P<0.05).In the preterm birth within 48 h group,only contraction frequency decreased significant-ly(P<0.05).Univariate Logistic regression indicated that contraction frequency,contraction duration,and contrac-tion area were predictive factors for premature birth within 48 h after tocolysis(P<0.05).When the duration of u-terine contractions lasting for 104.55 s or more the sensitivity and specificity of predicting premature birth within 48 h are 92.3％and 68.6％,respectively.Conclusions:Uterine electromyography may predict the premature birth within 48 h after tocolytic treatment in preterm labor,which may provide reference for subsequent corticosteroid therapy or transfer of high-risk pregnant patients.

Objective:To investigate the predictive value of transabdominal uterine electromyography for pre-term labor after tocolysis in women with threatened preterm labor.Methods:A total of 48 pregnant women at 28-34 weeks of gestation diagnosed with threatened preterm labor and admitted to The Fourth Affiliated Hospital of Soo-chow University from January to September 2023 were included.According to the response to tocolysis and whether the pregnancy was prolonged for at least 48 h,women were divided into two groups:non-preterm birth within 48 h(n=35)and preterm birth within 48 h(n=13).Uterine electromyography parameters and difference were compared before and after tocolytic therapy in two groups.Univariate Logistic regression was performed to predict the related factors of preterm birth within 48 h after the using of tocolysis in pregnant women with threat-ened preterm birth by uterine electromyography,and receiver operating characteristic(ROC)curve was per-formed to evaluate their performance.Results:Compared to before treatment with tocolysis,after therapy,in the non-preterm birth within 48 h group,significant reductions in contraction frequency,area,duration and amplitude were observed(P<0.05).In the preterm birth within 48 h group,only contraction frequency decreased significant-ly(P<0.05).Univariate Logistic regression indicated that contraction frequency,contraction duration,and contrac-tion area were predictive factors for premature birth within 48 h after tocolysis(P<0.05).When the duration of u-terine contractions lasting for 104.55 s or more the sensitivity and specificity of predicting premature birth within 48 h are 92.3％and 68.6％,respectively.Conclusions:Uterine electromyography may predict the premature birth within 48 h after tocolytic treatment in preterm labor,which may provide reference for subsequent corticosteroid therapy or transfer of high-risk pregnant patients.

Objective:To explore the efficacy of non-invasive prenatal testing (NIPT) of fetal free DNA in maternal peripheral blood in fetuses with increased nuchal translucency (NT).Methods:A retrospective analysis was conducted on 1 184 singleton pregnant women that underwent chromosomal microarray analysis (CMA) at Nanjing Drum Tower Hospital, Nanjing University Medical School from June 2014 to December 2022 due to fetal increased NT (≥3.0 mm). These subjects were categorized based on whether the increased NT was accompanied by other high-risk factors into isolated increased NT without advanced maternal age (further subdivided into 3.0 mm≤NT<3.5 mm, 3.5 mm≤NT<4.0 mm, and NT≥4.0 mm subgroups), isolated increased NT with advanced maternal age, increased NT with nasal bone abnormalities, increased NT with other soft markers, and increased NT with structural abnormalities groups. Assuming the sensitivity and specificity of NIPT and expanded NIPT at this center were both 100%, genomic abnormalities outside the detection range of NIPT or expanded NIPT were termed as residual risk of NIPT or expanded NIPT. Chi-square test and Bonferroni correction were used to compare the residual risks of NIPT and expanded NIPT among the three subgroups of isolated increased NT without advanced maternal age group. Results:(1) In the group of isolated increased NT without advanced maternal age: For the 3.0 mm≤NT<3.5 mm subgroup (329 cases), 19 abnormalities were detected by CMA [12 cases of chromosome aneuploidy, seven cases of pathogenic copy number variation (pCNV)], with residual risks of NIPT and expanded NIPT both at 2.1% (7/329). For the 3.5 mm≤NT<4.0 mm subgroup (173 cases), 29 abnormalities were detected by CMA (17 cases of chromosome aneuploidy, nine cases of pCNV, three cases of chromosome unbalanced translocation), with residual risks of NIPT at 8.1% (14/173) and expanded NIPT at 7.5% (13/173). For the NT≥4.0 mm subgroup (270 cases), CMA detected abnormalities in 70 cases (50 cases of chromosome aneuploidy, 16 cases of pCNV, three cases of unbalanced translocations, and one case of sex chromosome abnormality combined with pCNV). The residual risk of NIPT was 12.2% (33/270), and the residual risk of expanded NIPT was 7.0% (19/270). The residual risks of NIPT and expanded NIPT in the 3.0 mm≤NT<3.5 mm subgroup were lower than those in the 3.5 mm≤NT<4.0 mm and NT≥4.0 mm subgroups (Bonferroni correction, all P<0.017). (2) In the group of 92 cases with isolated increased NT and advanced maternal age, CMA detected abnormalities in 36 cases (29 cases of chromosome aneuploidy, five cases of pCNV, one case of trisomy 21 combined with sex chromosome abnormality, and one case of trisomy 18 combined with sex chromosome abnormality). The residual risk of NIPT was 7.6% (7/92), and that of expanded NIPT was 5.4% (5/92). (3) In the group of 49 cases with increased NT combined with nasal bone abnormalities, CMA detected abnormalities in 24 cases (23 cases of chromosome aneuploidy and one case of pCNV). The residual risks of NIPT and expanded NIPT were both 2.0% (1/49). (4) In the group of 26 cases with increased NT combined with other soft markers, CMA detected abnormalities in nine cases (six cases of chromosome aneuploidy, one case of pCNV, and two cases of chromosome unbalanced translocations). The residual risks of NIPT and expanded NIPT were both 11.5% (3/26). (5) In the group of 245 cases with increased NT combined with structural abnormalities, CMA detected abnormalities in 121 cases (107 cases of chromosome aneuploidy, seven cases of pCNV, four cases of chromosome unbalanced translocations, one case of trisomy 21 combined with trisomy 20, and two cases of trisomy 18 combined with sex chromosome abnormalities). The residual risk of NIPT was 16.7% (41/245), and that of expanded NIPT was 4.1% (10/245). Conclusions:For isolated NT≥3.5 mm or NT≥3.0 mm combined with other high-risk factors, chorionic villus sampling in early pregnancy can be recommended, advancing the timing of prenatal diagnosis from the second trimester to the first trimester. For fetuses with isolated 3.0 mm≤NT<3.5 mm, the 2.1% residual risk of chromosomal abnormalities should be fully informed during counseling, even if the risk of NIPT is low.

Objective:To explore the correlation between inflammatory factor levels in gingival crevicular fluid and pain degree, stress response and masticatory function in patients with combined periodontal and pulpal lesions.Methods:A retrospective selection of 92 patients with combined periodontal and pulpal lesions admitted to Yan ′an People′s Hospital from May 2022 to May 2023 was divided into mild group (60 cases) and moderate-severe group (32 cases) according to the degree of combined periodontal and pulpal lesions. Periodontal clinical indicators were compared between the two groups; enzyme-linked immunosorbent assay (ELISA) was used to detect inflammatory factors in gingival crevicular fluid and serum cortisol (Cor) and adrenocorticotropic hormone (ACTH) levels; Visual Analogue Scale (VAS) was used to evaluate pain degree; and weighing method was used to evaluate masticatory efficiency. Pearson correlation analysis was used to evaluate the correlation between inflammatory factor levels in gingival crevicular fluid and pain degree, stress response and masticatory function.Results:The probing depth (PD), attachment loss (AL), Plaque Index (PLI) and Bleeding Index (BI) in the moderate-severe group [(5.35±0.40)mm, (5.98±0.59)mm, 1.22±0.42, 1.28±0.43] were all higher than those in the mild group [(4.23±0.36)mm, (2.53±0.29)mm, 1.05±0.34, 0.80±0.40] (all P<0.05). The levels of interleukin-1β (IL-1β), interleukin-17 (IL-17) and high-sensitivity C-reactive protein (hs-CRP) in gingival crevicular fluid in the moderate-severe group [(41.87±11.78)μg/L, (606.32±59.33)pg/ml, (58.64±10.63)mg/L] were higher than those in the mild group [(30.35±10.53)μg/L, (478.63±43.18)pg/ml, (43.15±9.85)mg/L], and the level of transforming growth factor-β (TGF-β) [(53.98±6.98)μg/L] was lower than that in the mild group [(121.67±12.87)μg/L] ( P<0.05). The serum Cor and ACTH levels in the moderate-severe group [(165.68±34.64)μg/L, (25.97±6.37)ng/L] were higher than those in the mild group [(148.73±29.65)μg/L, (17.97±5.34)ng/L] (all P<0.05). The VAS score in the moderate-severe group [(5.03±1.20)points] was higher than that in the mild group [(3.57±1.01)points] ( P<0.05). The bite force and masticatory efficiency in the moderate-severe group [(95.32±23.73)lbs, (65.97±13.34)%] were lower than those in the mild group [(113.75±26.46)lbs, (75.89±16.86)%], and the gingival index (1.41±0.50) was higher than that in the mild group (0.85±0.36) (all P<0.05). Correlation analysis showed that IL-1β was positively correlated with disease degree, periodontal indexes, IL-17 and inflammatory factors, and negatively correlated with TGF-β; IL-17 was positively correlated with disease degree and multiple indexes, and negatively correlated with TGF-β, bite force and masticatory efficiency; TGF-β was positively correlated with bite force and masticatory efficiency, and negatively correlated with disease degree and multiple indexes. Conclusions:Inflammatory factors in gingival crevicular fluid of patients with combined periodontal and pulpal lesions are closely related to pain and stress response, and affect masticatory function. In diagnosis and treatment, inflammatory status should be comprehensively considered to provide a basis for personalized treatment.

Objective:To explore the correlation between inflammatory factor levels in gingival crevicular fluid and pain degree, stress response and masticatory function in patients with combined periodontal and pulpal lesions.Methods:A retrospective selection of 92 patients with combined periodontal and pulpal lesions admitted to Yan ′an People′s Hospital from May 2022 to May 2023 was divided into mild group (60 cases) and moderate-severe group (32 cases) according to the degree of combined periodontal and pulpal lesions. Periodontal clinical indicators were compared between the two groups; enzyme-linked immunosorbent assay (ELISA) was used to detect inflammatory factors in gingival crevicular fluid and serum cortisol (Cor) and adrenocorticotropic hormone (ACTH) levels; Visual Analogue Scale (VAS) was used to evaluate pain degree; and weighing method was used to evaluate masticatory efficiency. Pearson correlation analysis was used to evaluate the correlation between inflammatory factor levels in gingival crevicular fluid and pain degree, stress response and masticatory function.Results:The probing depth (PD), attachment loss (AL), Plaque Index (PLI) and Bleeding Index (BI) in the moderate-severe group [(5.35±0.40)mm, (5.98±0.59)mm, 1.22±0.42, 1.28±0.43] were all higher than those in the mild group [(4.23±0.36)mm, (2.53±0.29)mm, 1.05±0.34, 0.80±0.40] (all P<0.05). The levels of interleukin-1β (IL-1β), interleukin-17 (IL-17) and high-sensitivity C-reactive protein (hs-CRP) in gingival crevicular fluid in the moderate-severe group [(41.87±11.78)μg/L, (606.32±59.33)pg/ml, (58.64±10.63)mg/L] were higher than those in the mild group [(30.35±10.53)μg/L, (478.63±43.18)pg/ml, (43.15±9.85)mg/L], and the level of transforming growth factor-β (TGF-β) [(53.98±6.98)μg/L] was lower than that in the mild group [(121.67±12.87)μg/L] ( P<0.05). The serum Cor and ACTH levels in the moderate-severe group [(165.68±34.64)μg/L, (25.97±6.37)ng/L] were higher than those in the mild group [(148.73±29.65)μg/L, (17.97±5.34)ng/L] (all P<0.05). The VAS score in the moderate-severe group [(5.03±1.20)points] was higher than that in the mild group [(3.57±1.01)points] ( P<0.05). The bite force and masticatory efficiency in the moderate-severe group [(95.32±23.73)lbs, (65.97±13.34)%] were lower than those in the mild group [(113.75±26.46)lbs, (75.89±16.86)%], and the gingival index (1.41±0.50) was higher than that in the mild group (0.85±0.36) (all P<0.05). Correlation analysis showed that IL-1β was positively correlated with disease degree, periodontal indexes, IL-17 and inflammatory factors, and negatively correlated with TGF-β; IL-17 was positively correlated with disease degree and multiple indexes, and negatively correlated with TGF-β, bite force and masticatory efficiency; TGF-β was positively correlated with bite force and masticatory efficiency, and negatively correlated with disease degree and multiple indexes. Conclusions:Inflammatory factors in gingival crevicular fluid of patients with combined periodontal and pulpal lesions are closely related to pain and stress response, and affect masticatory function. In diagnosis and treatment, inflammatory status should be comprehensively considered to provide a basis for personalized treatment.

Objective:To report on the phenotype of an adult patient with 2p23.2p22.1 duplication and explore its genotype-phenotype correlation.Methods:A pregnant woman who had presented at the Affiliated Drum Tower Hospital of Nanjing University Medical School on January 12, 2024 for a high risk signaled by NIPT was selected as the study subject. Amniotic fluid and peripheral blood samples were collected and subjected to chromosomal microarray analysis (CMA). The phenotype of the patient was observed, the medical history was taken, combined with the result of CMA assay, relevant database was searched for similar cases reported in the literature, and the correlation between genotype and phenotype was analyzed.Results:The CMA result of the patient was arr[GRCh38]2p23.2p22.1(27961669_39280633)×3, which indicated a 11.31 Mb duplication. The woman was found to have short stature, learning disability, visual deficit, sleep disorder and other disorders.Conclusion:The duplication of PPP1CB and SOS1 genes within the 2p23.2p22.1 region can result in Noonan syndrome-like clinical manifestations such as short stature and reduced visual acuity. The duplication of the PPP1CB gene may be associated with the abnormal visual phenotype.

OBJECTIVE: To report on the phenotype of an adult patient with 2p23.2p22.1 duplication and explore its genotype-phenotype correlation. METHODS: A pregnant woman who had presented at the Affiliated Drum Tower Hospital of Nanjing University Medical School on January 12, 2024 for a high risk signaled by NIPT was selected as the study subject. Amniotic fluid and peripheral blood samples were collected and subjected to chromosomal microarray analysis (CMA). The phenotype of the patient was observed, the medical history was taken, combined with the result of CMA assay, relevant database was searched for similar cases reported in the literature, and the correlation between genotype and phenotype was analyzed. RESULTS: The CMA result of the patient was arr[GRCh38]2p23.2p22.1(27961669_39280633)×3, which indicated a 11.31 Mb duplication. The woman was found to have short stature, learning disability, visual deficit, sleep disorder and other disorders. CONCLUSION The duplication of PPP1CB and SOS1 genes within the 2p23.2p22.1 region can result in Noonan syndrome-like clinical manifestations such as short stature and reduced visual acuity. The duplication of the PPP1CB gene may be associated with the abnormal visual phenotype.
Humans ; Female ; Chromosomes, Human, Pair 2/genetics* ; Adult ; Pregnancy ; Chromosome Duplication ; Phenotype

ObjectiveTo evaluate the effectiveness and safety of Qiaoqi Formula （翘芪组方） for mild influenza. MethodsA randomized controlled study was designed， recruiting 74 patients with mild influenza， who were randomly divided into trial group and control group. The trial group took Qiaoqi Formula orally， 40ml each time， twice a day； the control group took Lianhua Qingwen Capsules （连花清瘟胶囊） orally， 1.4 g each time， three times a day. Both groups were treated for 3 consecutive days and follow-up for 4 consecutive days after treatment. The time for fever reduction including onset of fever reduction， complete fever reduction time， fever reduction rates at 24， 48 and 72 hours， improvement of influenza symptoms， total traditional Chinese medicine （TCM） symptom score， and safety indicators in two groups after treatment were recorded. ResultsSixty-five patients were ultimately included， including 36 in the trial group and 29 in the control group. Onset time of fever reduction in the trial group was （15.49±23.47） h， the complete fever reduction time （21.37±30.06）h， and the 24 h， 48 h， 72 h， fever reduction rate was 77.14%， 88.57%， 91.42% respectively. The above indicators of the control group showed as （17.58±20.38）h， （24.30±21.87）h， 61.29%， 90.32%， 96.77% respectively， with no statistically significant differences （P＞0.05）. On the 7th day after treatment， the total score of TCM syndromes in trial group and control group decreased compared to those before treatment （P＜0.05）. There was no statistically significant difference in the cure rate， significant effective rate， effective rate， and total effective rate of TCM syndromes between groups （P＞0.05）. On the 4th day， the lymphocyte ratio of patients in the control group was higher than before treatment， while alanine aminotransferase （ALT）， aspartate aminotransferase （AST）， urea， and creatinine of both groups before and after treatment were within the normal range. The main adverse reactions in both groups were mild headache and dizziness， and no serious adverse reactions observed. ConclusionThe therapeutic effect of Qiaoqi Formula in treating mild influenza is equivalent to Lianhua Qingwen Capsules， which can shorten the fever reduction time， improve clinical symptoms， and no adverse events observed during the study.

Objective:To explore the clinical manifestations of two fetuses harboring heterozygous deletions of the SHOX gene. Methods:Two pregnant women who had presented at the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital respectively on June 24, 2022 and July 27, 2022 were selected as the study subjects. In case 1, prenatal ultrasonography had shown short femur and intrauterine growth retardation of the fetus. Case 2 had a history of spontaneous abortions due to structural chromosomal aberrations. Fetus 1 had undergone a test for the FGFR3 gene, and both fetuses were subjected to single nucleotide polymorphism-based microarray (SNP array) analysis. Results:Affter excluding the influence of FGFR3 gene Fetus 1 was found to harbor a heterozygous 883 kb deletion at Xpter or Ypter, whilst fetus 2 was found to harbor a 5.75 Mb deletion in the Xpter region. Both deletions have encompassed the SHOX gene. The origin of the deletion in fetus 1 was unknown, whilst that in fetus 2 was inherited from its mother. Fetus 1 has been delivered at term with a normal phenotype, and fetus 2 was not born yet. Conclusion:The intrauterine and postnatal phenotypes of fetuses may be predicted by combining the ultrasound finding, parental phenotype and results of CMA, variant, and the results can facilitate genetic counseling and decision making over the pregnancy.