Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis.

OBJECTIVE: To precision survey a fetal congenital primary aphakia molecular etiology. CASE REPORT: A case of 42 years old pregnancy woman prenatal diagnostic examination by amniocentesis conducted at 17 weeks' gestation and demonstrated a normal female karyotype. Trio studies based on chromosome microarray analysis (CMA) and Sanger's genetic analysis did not detect a pathologic variant of the FOXE3 gene. Fetal congenital primary aphakia accompanied with microphthalmia detected by sonography in the second trimester (22 weeks). MRI indicated bilateral absence of the lenses, consistent with primary congenital aphakia. Due to the poor prognosis of congenital aphakia, the parents decided to terminate the fetus and provided consent for an autopsy. Pathological analysis revealed dysplasia of the anterior segment of both eyes. However, post fetal mortem extended trio whole exon sequencing (WES) and Sanger's genetic analysis identified compound heterozygous variants in the chromosomal location 2p25.3 in the PXDN gene. CONCLUSION: Extended whole exon sequencing is an important tool to study primary congenital aphakia.

Serum procalcitonin to differentiate acute antepartum pyelonephritis from asymptomatic bacteriuria and acute cystitis during pregnancy: A multicenter prospective observational study.

OBJECTIVE: To examine whether serum procalcitonin (PCT) is useful for differentiating acute pyelonephritis (APN) from asymptomatic bacteriuria and acute cystitis during pregnancy. METHODS: A multicenter prospective observational study was conducted to compare serum white blood cell (WBC) counts, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) level, and PCT level among pregnant women with asymptomatic bacteriuria, acute cystitis, and APN and healthy pregnant women (controls). Utility of WBC count, ESR, CRP, and PCT biomarkers for the prediction of APN during pregnancy were measured. RESULTS: Area under the curve (AUC) values of PCT, CRP, ESR, and WBC count for predicting asymptomatic bacteriuria were 0.576, 0.628, 0.542, and 0.532, respectively; those for predicting acute cystitis were 0.766, 0.735, 0.681, and 0.597, respectively; and those for predicting acute pyelonephritis 0.859, 0.763, 0.711, and 0.732, respectively. Compared with the other inflammatory markers used to predict APN, PCT exhibited the highest AUC (0.859 [95% confidence interval (CI) 0.711-0.935]). A cutoff value of >0.25 ng/ml had a sensitivity of 87% and a specificity of 79%. CONCLUSION: Serum PCT can be a valuable addition to existing methods of differentiating asymptomatic bacteriuria, acute cystitis, and APN during pregnancy and can facilitate the early identification of APN during pregnancy.

Risk of venous thromboembolism in elderly patients with vertebral compression fracture: A population-based case-control study.

Vertebral compression fractures (VCFs) are common in elderly and are treated with immobilization. Moreover, immobilization and old age may increase venous thromboembolism (VTE) risk. However, the incidence of VCFs-related VTE is unknown in elderly. The purposes of this study were to determine the incidence of VTE among VCF patients, to explore whether percutaneous vertebroplasty (PV) intervention may reduce VTE risk in VCFs patients.We conducted a population-based case-control study by using the National Health Insurance Research Database. We identified 1407 patients aged ≥65 with VCF who received PV and 1407 VCFs patients who did not receive PV after developing a 1:1 propensity score-matched study cohort and were followed up for 5 years. Using PV intervention as the exposure factor, a cause-specific Cox's proportional hazards model was used to examine the association between PV and VTE.After propensity score matching, the mean age of the study participants was 78 years and ∼23% of the analyzed participants were men, incidence of VTE in the PV and control cohorts was 5.77 and 4.19 per 1000 person-years, respectively. Both groups were nonsignificant difference after examination with different adjustment models. Patients with VCF and a history of heart failure, coronary artery disease, receiving antihypertension medication were at a significantly increased VTE risk.Elderly patients with VCF who received PV had a neutral impact on risk of VTE. VCF patients with heart failure, coronary artery disease, and receiving antihypertension medication were prone to developing VTE should be monitored cautiously.

Trisomy 21 screening based on first and second trimester in a Taiwanese population.

OBJECTIVE: This study investigates the performance of first- and second-trimester screening tests for detecting fetal trisomy 21 in a Taiwanese population. MATERIALS AND METHODS: This multicenter study 29,137 cases enrolled the chromosomal abnormality screening between 2013 and 2014 two years period from Taipei city. There were 23,990 was done the first trimester screening using a combination of fetal nuchal translucency, maternal serum ß-human chorionic gonadotropin, and pregnancy-associated plasma protein-A between 11+0 and 13+6 weeks of gestation age. Second-trimester screening was done for 5149 cases using a double test (ß-human chorionic gonadotropin and serum alpha fetoprotein) between 15 and 20 weeks of gestation. The cut-off risk for both is 1:270 or higher. RESULTS: This multicenter study 29,137 cases that completed first- and second-trimester screening, and the outcome was available in 28,726 cases. The mean maternal age of the screen-positive group was 34.6 ± 4.2 years. The first-trimester had 891 cases screening positive with a detection rate of 97.5% for fetal trisomy 21, and false positive rate of 3.5%. In the second-trimester had 334 cases screening positive, the detection rate and false positive rate were 33.3% and 6.4% for trisomy 21, respectively. CONCLUSION: The first-trimester screening had higher performance with a lower false positive rate than the second-trimester screening. First-trimester screening could reduce the rate of unnecessary invasive testing for all pregnant women.

Noninvasive prenatal diagnosis.

Prenatal examination plays an important role in present medical diagnosis. It provides information on fetal health status as well as the diagnosis of fetal treatment feasibility. The diagnosis can provide peace of mind for the perspective mother. Timely pregnancy termination diagnosis can also be determined if required. Amniocentesis and chorionic villus sampling are two widely used invasive prenatal diagnostic procedures. To obtain complete fetal genetic information and avoid endangering the fetus, noninvasive prenatal diagnosis has become the vital goal of prenatal diagnosis. However, the development of a high-efficiency separation technology is required to obtain the scarce fetal cells from maternal circulation. In recent years, the rapid development of microfluidic systems has provided an effective method for fetal cell separation. Advantages such as rapid analysis of small samples, low cost, and various designs, greatly enhance the efficiency and convenience of using microfluidic systems for cell separation. In addition, microfluidic disks can be fully automated for high throughput of rare cell selection from blood samples. Therefore, the development of microfluidic applications in noninvasive prenatal diagnosis is unlimited.

Extended first-trimester screening using multiple sonographic markers and maternal serum biochemistry: a five-year prospective study.

OBJECTIVE: To examine the performance of first-trimester screening test combining several fetal sonographic and maternal biochemical markers for major aneuploidy in a Chinese population. METHODS: This was a prospective study performed over 5 years between January 2005 and December 2010 in Taiwan, with 20,586 cases that had a combination of a variety of sonographic markers and maternal serological ß-human chorionic gonadotropin and pregnancy-associated plasma protein-A levels assessed at first trimester screening between 11(+0) and 13(+6) weeks of gestation. The risk of aneuploidy was calculated using algorithm software developed by Fetal Medicine Foundation, London. Fetal karyotyping was performed when the prenatal screening showed a risk of 1/300 or higher. All cases were followed for fetal outcome. RESULTS: The study population was divided into four groups according to the screening strategy performed. The combination of maternal serological biochemistry and nuchal translucency measurement had a 66.7% detection rate of trisomy 21. Addition of nasal bone status increased the detection rate of trisomy 21 to 88.2%. Inclusion of tricuspid regurgitation flow showed an 87.5% detection rate of trisomy 21. Further inclusion of ductus venosus flow increased the detection rate of trisomy 21 to 100%. Incorporating more markers greatly increased the detection rate and decreased the false-positive rate (FPR). CONCLUSION: Extension of first-trimester screening to include more sonographic markers greatly increased the sensitivity and decreased FPR for detection of chromosomal abnormalities. Such screening strategy is effective in clinical practice for the Chinese ethnic population.