Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort.

OBJECTIVE: This study aimed to investigate the genetic etiologies of fetuses with single atria and/or ventricle (SA or/and SV) using different genetic detection methods in a Chinese prenatal cohort. METHODS: In this retrospective study, the various genetic results of 44 fetuses with SA and/or SV were analyzed. All 44 cases were tested by chromosomal microarray analysis (CMA) and karyotyping simultaneously, and 8 underwent whole exome sequencing (WES). Data on the pregnancy outcomes and neonatal prognoses were collected from medical records and postnatal follow-up. RESULTS: The whole cohort of 44 fetuses included 14 SA cases (31.8%), 12 SV cases (27.3%), and 18 SA and SV cases (40.9%). A total of 9 pathogenic genetic results were detected by conventional karyotyping, CMA and trio-WES, indicating an overall detection rate of 20.5% (9/44). Six pathogenic chromosomal abnormalities were identified by CMA among the 44 cases, showing a detection rate of 13.6% (6/44). Two microdeletions being missed by karyotyping were diagnosed by CMA, showing an additional diagnostic yield of 4.5% for CMA in present cohort(2/44). Three pathogenic variants in two fetuses were identified by WES, indicating an incremental diagnostic yield of 4.5%(2/44) for WES in fetuses with SA or/and SV. CONCLUSION: In this study, WES achieved an additional diagnostic yield of 4.5% in fetuses with SA or/and SV. WES is valuable for fetal prognosis assessment and could add diagnostic value for fetuses with SA and/or SV when CMA is negative. It would be a valuable technique for the identification of underlying pathogenic variants in prenatal cohorts.

Retrospective analysis of 26 cases of pregnancy luteoma.

BACKGROUND: Pregnancy luteoma is a rare hormone-dependent ovarian tumor-like lesion caused by increased androgenic activity during pregnancy. OBJECTIVE: To explore the clinical history, ultrasound manifestations, and differential diagnosis of pregnancy luteoma. METHOD: A retrospective analysis was conducted on 26 cases of pregnancy luteoma diagnosed by postoperative pathology, from 2009 to 2022. All cases were from two hospitals: Shanghai First Maternity and Infant Hospital and International Peace Maternity and Child Health Hospital. The clinical history data and ultrasound characteristics were analyzed and the relevant literature was reviewed. RESULTS: Among the 26 cases, five of them had preoperative ultrasound images. Among these five cases, three patients showed hyperechoic masses with less internal uniformity, while two demonstrated loculated anechoic zones, with clear boundary and regular morphology. Color Doppler showed no obvious internal blood flow signals, or that blood flow signals were visible within the cyst wall and hyperechoic mass. Among the cases, 16 had multiple gestations, while two visited the clinic due to sudden abdominal pain and a huge ovarian mass was found by ultrasonography. The ovarian lump was detected during routine obstetric ultrasound in three cases. The remaining were ovarian cysts found incidentally during caesarean section. Four patients presented with hairy manifestations and one patient had a deepened voice. CONCLUSION: There is no characteristic ultrasound of pregnancy luteoma, and its diagnosis is mainly based on clinical history data and laboratory tests.

Combined general and central obesity indices to predict gestational diabetes.

OBJECTIVE: To investigate the relationship between general and central obesity in the first trimester of pregnancy and gestational diabetes and its predicted value. MATERIALS AND METHODS: We recruited 813 women who registered at 6-12 weeks of gestation. Anthropometric measurements were done at the first antenatal visit. At 24-28 weeks of pregnancy, gestational diabetes was diagnosed using the 75 g oral glucose tolerance test. Binary logistic regression was used to determine odds ratios and 95% confidence intervals. The receiver-operating characteristic curve was used to evaluate the ability of obesity indices to predict the risk of gestational diabetes. RESULTS: Odds ratios (95% confidence intervals) of gestational diabetes across increasing quartiles of waist-to-hip ratio were 1.00, 1.54 (0.65-3.66), 2.63 (1.18-5.85), and 4.96 (2.27-10.85), respectively (p < .001), while those for waist-to-height ratio were 1.00, 1.21 (0.47-3.08), 2.99 (1.26-7.10), and 4.01 (1.57-10.19), respectively (p < .001). Areas under the curve for general and central obesity were similar. However, the area under the curve of body mass index combined with the waist-to-hip ratio was the biggest. CONCLUSION: Higher waist-to-hip ratio and waist-to-height ratio in the first trimester of pregnancy are associated with increased risks of gestational diabetes in Chinese women. The combination of body mass index and waist-to-hip ratio in the first trimester of pregnancy is a good predictor for gestational diabetes.

The UA Doppler Index, Plasma HCY, and Cys C in Pregnancies Complicated by Congenital Heart Disease of the Fetus.

Background: Congenital heart disease/defect (CHD) is one of the most common congenital disabilities. Early diagnosis of CHD can improve the prognosis of newborns with CHD. The aim of this study was to evaluate the relationship between the factors and the onset of fetal congenital heart disease by measuring fetal umbilical artery (UA) Doppler index, maternal HCY, and Cys C levels during pregnancy. Methods: This retrospective study analyzed 202 fetuses with CHD, including 77 cases (39.1%) of simple CHD and 120 cases (60.9%) of complex CHD. Singleton pregnant women who were examined at the same time and whose malformation screening did not suggest any structural abnormalities in the fetus were assigned to the control group (n = 400). The UA Doppler index, plasma HCY, and Cys C levels were compared among the pregnant women across the three groups, and logistic regression analysis was performed on statistically significant markers. The ROC of UA S/D, PI, RI, HCY, and Cys C were plotted, and the area under the ROC (AUC) was calculated. Results: The UA S/D, PI, and RI in the complex CHD group were significantly higher than those in the control group (p < 0.05). The levels of HCY and Cys C in the CHD group were significantly higher than those in the control group (p < 0.05). HCY and S/D revealed a positive correlation (r = 0.157), and the difference was statistically significant (p < 0.001). Cys C and S/D were positively correlated (r = 0.131), and the difference was statistically significant (p < 0.05). The levels of UA Doppler indices, maternal plasma HCY, and Cys C were elevated in fetuses with CHD. The AUC of the combined test of the UA index, HCY, and Cys C was higher than that of each individual test. Conclusions: Elevated levels of the UA doppler indices, HCY, and Cys C during pregnancy are positively associated with the development of congenital heart disease in offspring. The combination of HCY and Cys C was the most efficient test for the diagnosis of CHD. We are the first to report that plasma Cys C levels of women pregnant with fetuses with CHD were higher than those of women pregnant with normal fetuses.

Association between placental implantation abnormalities and hypertensive disorders of pregnancy.

AIM: This study aimed to investigate the association between placental implantation abnormalities (PIAs) and gestational hypertension-preeclampsia (GH-PE) in pregnant women. METHODS: Patients were recruited from 2010 to 2019 into this retrospective study at the International Peace Maternity & Child Health Hospital. PIAs were classified as follows: placenta previa (PP), low-lying placenta (LP), placenta accreta, and placenta adherence (PA). Logistic regression models were constructed to analyze the associations between placental abnormalities and GH-PE. Propensity score matching (PSM) was conducted to reduce confounders. The relationship between PP with placenta accreta spectrum (PAS) and GH-PE were assessed. RESULTS: In total, 5527 women were recruited, and 2614 women had an abnormal placenta (992 with LP; 749 with PP 839 and PA; and 34 with placenta accreta). There were 296 patients with GH-PE in those groups. After adjustments for confounding factors, women with PP had a lower risk of PE (odds ratio [OR]: 0.43; 95% confidence interval [CI]: 0.19-0.86, p = 0.025) than those in the control group. Women with PA had a higher risk of GH-PE (OR: 1.45; 95% CI: 1.05-1.99, p = 0.022). In addition, we categorized PP into marginal, complete, and partial PP and investigated these associations. We found a lower risk of PE in complete PP (OR: 0.09, 95% CI: 0.01-0.44, p = 0.020) than in marginal or partial PP. There was no significant difference regarding GH-PE in the PP with PAS group (OR = 0.67, 95% CI: 0.82-2.34, p = 0.525). CONCLUSION: PP, especially complete PP, is associated with a lower risk of PE. PA is associated with higher risks of GH-PE.

Reference ranges of fetal heart function using a Modified Myocardial Performance Index: a prospective multicentre, cross-sectional study.

OBJECTIVES: The primary aim of this study was to establish the normal reference ranges of the fetal left ventricular (LV) Modified Myocardial Performance Index (Mod-MPI). A secondary aim was to evaluate the agreement between manual and automatic measurements for fetal Mod-MPI. DESIGN: A prospective, multicentre, cross-sectional study. PARTICIPANTS: Normal singleton pregnancies. METHODS: The LV functions of normal singleton pregnancies were assessed in nine centres covering eight provinces in China using unified ultrasound protocols and settings and standardised measurements by pulsed Doppler at 20-24, 28-32 and 34-38 weeks of gestation. The isovolumetric relaxation time (IRT), isovolumetric contraction time, ejection time (ET) and Mod-MPI were measured both automatically and manually. RESULTS: This cross-sectional study included 2081 fetuses, and there was a linear correlation between gestational age (GA) and Mod-MPI (0.416+0.001×GA (weeks), p<0.001, r2=0.013), IRT (36.201+0.162× GA (weeks), p<0.001, r2=0.021) and ET (171.418-0.078*GA (weeks), p<0.001, r2=0.002). This finding was verified using longitudinal data in a subgroup of 610 women. The agreement between the manual and automated measurements for Mod-MPI was good. CONCLUSIONS: We constructed normal reference values of fetal LV Mod-MPI. Automatic measurement can be considered for ease of measurement in view of the good agreement between the automatic and manual values.

The diagnostic value of the early extended fetal heart examination at 13 to 14 weeks gestational age in a high-risk population.

BACKGROUND: Congenital heart disease (CHD) is the most common congenital malformation that affects high-risk populations. A more definite heart diagnosis in the first trimester should be provided to guide clinical treatment. The study aim was to evaluate the diagnostic precision of the early extended fetal heart examination (EFHE) that includes abdominal situs view, four-chamber view (4CV), left ventricular outflow tract view (LVOT), right ventricular outflow tract view (RVOT), 3-vessel and tracheal view (3VT), ductal arch view, and the aortic arch view in the detection of CHD at the gestational age (GA) 13 to 14 weeks in a population with high risks. METHODS: This study was a diagnostic test study. EFHE was performed by transabdominal sonography in women at GA 13 to 14 weeks with singleton pregnancies who were at high risk for CHD. The risk of CHD was determined by family history of CHD, rubella infection, metabolic disorders, exposure to teratogens, conception by in-vitro fertilization (IVF), increased nuchal translucency (NT) thickness, abnormal obstetric ultrasound, etc. The operator had more than 5 years of experience in first-trimester scans and fetal echocardiography. Early scans were compared with a fetal echocardiography in the second trimester (16-24 weeks). RESULTS: EFHE was performed, and the pregnancy outcomes were obtained in 234 single pregnancies with a high risk of CHD. The average crown-rump length (CRL) was (76.17±7.09) mm. CHD was diagnosed in 43 cases by EFHE; 10 of these cases were misdiagnosed, and 2 cases were missed. Four cases were inconsistent in the main diagnosis of CHD. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and kappa coefficient (Ko) value of EFHE in diagnosing CHD by type and severity was 84.6% [95% confidence interval (CI), 69.5-94.1%], 96.9% (95% CI, 93.4-98.9%), 84.6% (95% CI, 69.5-94.1%), 96.9% (95% CI, 93.4-98.9%), and 0.82 (P<0.001), respectively. CONCLUSIONS: EFHE can work as a diagnose examination for most major CHD cases at GA 13 to 14 weeks by an experienced operator; Therefore, this diagnostic system for fetal CHD may be applied in the first trimester. The study has been registered in the Chinese Clinical Trial Registry (www.chictr.org.cn). The registration number is ChiCTR2000038451.

[Application of fluorescent real-time reverse transcriptase-polymerase chain reaction in detecting influenza viruses].

OBJECTIVE: To apply fluorescent real-time reverse transcriptase-polymerase chain reaction (RT-PCR) in detecting influenza viruses. METHODS: A total of 207 oral swab samples were obtained in 16 collections from SARS patients and suspected influenza outbreak cases. They were subjected to influenza virus detection by fluorescent real-time RT-PCR, MDCK cell culture, and hemagglutinin inhibition assay. RESULTS: Out of 207 samples, 79 (38.16%) were positive for influenza viruses when tested by fluorescent real-time PCR, and 62 (29.95%) positive when tested by MDCK cell culture. There was a statistically significant difference between them (chi square=8.64, P less than 0.005). From 104 cases in 9 collections dual serum samples were obtainable. When tested with hemagglutinin inhibition assay, 64 cases (61.54%) showed a 4-fold increase against H3N2 antigen. CONCLUSION: This study showed that fluorescent real-time PCR is a reliable, sensitive, and fast method for detecting influenza viruses.