[The level distribution of serum AMH in different clinical manifestations of women of childbearing age].

To investigate the distribution and diagnostic value of serum anti-Müllerian hormone (AMH) in healthy women of childbearing age, women with polycystic ovary syndrome (PCOS), ovarian dysfunction (DOR) and premature ovarian failure (POF). This study retrospectively selected female patients of childbearing age who were treated in the affiliated Obstetrics and Gynecology Hospital of Fudan University from January to December 2019. According to different clinical manifestations, they were divided into 133 cases in PCOS group, 120 cases in DOR group and 134 cases in POF group. 125 healthy women in the same period were selected as the control group. The values of serum AMH, estradiol (E2), follicle stimulating hormone (FSH), luteinizing hormone (LH) and testosterone (T) were measured in the four groups. Single sample Kolmogorov-Smirnov test, one-way ANOVA, independent sample t-test, Kruskal-Wallis H test, Mann-Whitney U test, logistic regression analysis and ROC curve were used for comparative analysis. The serum AMH levels of PCOS group, DOR group, POF group and control group were 9.10 (6.67, 11.49) ng/ml, 0.11 (0.05, 0.29) ng/ml, 0.03 (0.02, 0.06) ng/ml and 2.99 (1.57, 4.98) ng/ml, respectively [M(Q1,Q3)], the differences were statistically significant (P<0.001). The basal endocrine levels including E2, FSH, LH and T also had significant differences between groups (P<0.001). The results of multiple comparisons showed that there were significant differences in AMH and LH between DOR, POF and PCOS groups and the control group. The T level of PCOS group was significantly higher than that of the control group, the E2, LH and T levels of DOR group were significantly higher than that of the control group, and the FSH level of POF group was significantly higher than that of the control group (P<0.05). The area under the curve (AUC) of AMH and AMH+LH in the diagnosis of PCOS were 0.905 and 0.922, the sensitivity was 82.7% and 85.0%, and the specificity was 88.0% and 88.8%. The AUC of DOR was 0.861 and 0.971, the sensitivity was 89.0% and 92.5%, and the specificity was 63.0% and 92.0%. The AUC of POF was 0.950 and 0.998, the sensitivity was 98.3% and 99.2%, and the specificity was 75.9% and 97.0%, respectively. The AUC of AMH and AMH+LH combined indexes in the differential diagnosis of DOR and POF were 0.768 and 0.937, the sensitivity was 70.3% and 95.5%, and the specificity was 73.9% and 80.8%.

[Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities].

To assess the positive predictive value (PPV) of extended noninvasive prenatal testing (NIPT-plus) for fetal chromosomal abnormalities. This retrospective research enrolled 511 cases of pregnant women with positive NIPT-plus results at the Obstetrics and Gynecology Hospital of Fudan University from May 2017 to January 2021. Karyotype analysis and chromosome microarray analysis (CMA) techniques was applied for verification. All cases were followed to determine their pregnancy outcome. The Chi-square test was used in PPV. 63 out of 511 refused prenatal diagnosis after counseling, 448 pregnant women with prenatal diagnosis showed that the PPVs of NIPT-plus test for fetal trisomy 21, 18 and 13 (T21, T18, T13), sex chromosome aneuploidy (SCAs) and chromosome microdeletion/microduplication syndrome (MMS) were 86.0% (92/107), 79.5% (35/44), 54.5% (12/22), 39.5% (75/190), and 41.7% (30/72), respectively. The results revealed that the PPV was higher among older pregnant women compared to young pregnant women (77.8% vs. 51.9%,P<0.01). With increasing maternal age, the PPV of NIPT-plus presented increasing trends for T21, T13, and composite PPV except for T18 or SCAs. In addition, the termination rates for confirmed SCAs fetal karyotypes 45, X; 47, XXX; 47, XXY and 47, XYY were 11/11, 3/15, 91.7% (22/24) and 1/14, respectively. NIPT-plus can safely and effectively detect fetal chromosomal abnormalities and can be extended to MMS screening, significantly reducing the proportion of interventional prenatal diagnoses, and those with positive screening still require further confirmation.

Detection of human cytomegalovirus DNA in various blood components after liver transplantation.

The quantification of human cytomegalovirus (HCMV DNA) by real-time PCR is currently a primary option for laboratory diagnosis of HCMV infection. However, the optimal sample material remains controversial due to the use of different PCR assays. To explore the best blood component for HCMV DNA surveillance after liver transplantation, whole blood (WB), serum (SE), and plasma (PL) specimens were collected simultaneously from targeted patients and examined for HCMV DNA using one commercially available assay. The HCMV DNA-positive rate with WB (16.67%) was higher than that with either SE or PL (8.33%, both P<0.01). Quantitative DNA levels in WB were of greater magnitude than those in SE (WB-SE mean log-transformed difference, 0.99; 95%CI=0.74-1.25; P<0.0001) and PL (WB-PL mean log-transformed difference, 1.37; 95%CI=1.07-1.66; P<0.0001). Dynamic monitoring revealed that HCMV DNA in WB was positive sooner and had higher values for a longer period of time during therapy. With earlier positive detection, higher sensitivity, and yield of greater viral loads, WB compared favorably to SE or PL and hence is recommended as the superior material for HCMV DNA surveillance after liver transplantation. In addition, infant recipients require more intensive monitoring and prophylactic care because of their higher susceptibility to primary HCMV infection.