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Background: The non-invasive prenatal test (NIPT) is based on next generation sequencing (NGS) and is used for screening for fetal trisomy. However, it is time-consuming and technically difficult. Recently, peptide nucleic acid (PNA) probe-based real-time polymerase chain reaction (RT-PCR) was developed. This study aimed to examine the performance of the RT-PCR-based NIPT for screening of common fetal trisomies Methods: From stored maternal plasma, RT-PCR was performed using Patio™ NIPT Detection Kit. In melting curve analysis, the height of melting peaks of target chromosome and reference chromosome was calculated as a peak ratio. The adjusted peak ratio of 8 markers with correction factors in each target chromosome was summated and calculated to z-score. The cut-off value for each target chromosome was established for classification (low risk vs. high risk for trisomy) whose performance was obtained in the validation phase. Results: 330 plasma samples from pregnant women with normal fetus and 22 trisomy cell-line samples were used to establish the optimal cut-off values for z-score of each target chromosome. In the validation phase, 1023 samples from pregnant women including 22 cases with fetal trisomy and 1001 cases of normal control were used. The RT-PCR-based NIPT showed 95.45% sensitivity [95% confidence interval (CI) 77.16–99.88%], 98.60% specificity (95% CI 97.66–99.23%), and 98.53% accuracy (95% CI 97.59–99.18%) for the identification of trisomy 21, 18, or 13. Of 1023 samples, fifteen cases were mismatched for classification [one case as a false negative (false negative rate: 4.5%) and 14 cases as false positives (false positive rate: 1.4%)]. Conclusion: The RT-PCR-based NIPT showed high sensitivity and specificity for the detection of common fetal trisomies and it could be a feasible alternative to NGS-based NIPT. [ABSTRACT FROM AUTHOR]

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a new coronavirus, was first identified in December 2019 in Wuhan, China and spread rapidly, affecting many other countries. The disease is now referred to as coronavirus disease 2019 (COVID-19).The Italian government declared a state of emergency on 31st January 2020 and on 11th March World Health Organization (WHO) officially declared the COVID-19 outbreak a global pandemic. Although the COVID-19 incidence remained considerably lower in Sardinia than in the North Italy regions, which were the most affected, the field of prenatal screening and diagnosis was modified because of the emerging pandemic. Data on COVID-19 during pregnancy are so far limited. Since the beginning of the emergency, our Ob/Gyn Department at Microcitemico Hospital, Cagliari offered to pregnant patients all procedures considered essential by the Italian Ministry of Health. To evaluate the influence of the COVID-19 pandemic on the activities of our center, we compared the number of procedures performed from 10th March to 18th May 2020 with those of 2019. Despite the continuous local birth rate decline, during the 10-week pandemic period, we registered a 20% increment of 1st trimester combined screening and a slight rise of the number of invasive prenatal procedures with a further increase in chorionic villi sampling compared to amniocentesis. Noninvasive prenatal testing remained unvariated. The request for multifetal pregnancy reduction as a part of the growing tendency of voluntary termination of pregnancy in Sardinia increased. The COVID-19 pandemic provides many scientific opportunities for clinical research and study of psychological and ethical issues in pregnant women. [ABSTRACT FROM AUTHOR]

Objective: To investigate the rate of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) positivity in asymptomatic pregnant women admitted to hospital for delivery in a Turkish pandemic center.Study Design: This prospective cohort study was conducted in Ankara City Hospital between April, 15, 2020 and June, 5, 2020. A total of 206 asymptomatic pregnant women (103 low-risk pregnant women without any defined risk factor and 103 high-risk pregnant women) were screened for SARS-CoV-2 positivity upon admission to hospital for delivery. Detection of SARS-CoV2 in nasopharyngeal and oropharyngeal samples was performed by Real Time Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) method targeting RdRp (RNA dependent RNA polymerase) gene. Two groups were compared in terms of demographic features, clinical characteristics and SARS-CoV-2 positivity.Results: Three of the 206 pregnant women participating in the study had positive RT-PCR tests (1.4 %) and all positive cases were in the high-risk pregnancy group. Although, one case in the high-risk pregnancy group had developed symptoms highly suspicious for COVID-19, two repeated RT-PCR tests were negative. SARS-CoV-2 RT-PCR positivity rate was significantly higher in the high-risk pregnancy group (2.9 % vs 0%, p = 0.04).Conclusion: Healthcare professionals should be cautious in the labor and delivery of high-risk pregnant women during the pandemic period and universal testing for COVID-19 may be considered in selected populations. [ABSTRACT FROM AUTHOR]

Aim: To demonstrate the effect of the Syrian refugee population on the prevalence of congenital TORCH (Toxoplasmosis, Other [syphilis, varicella‐zoster, parvovirus B19], Rubella, Cytomegalovirus [CMV] and Herpes) infections and to evaluate the cost‐effectiveness of population‐based TORCH screening during pregnancy in Turkey. Methods: Pregnant women (n = 9754) were enrolled. Ultrasonographic findings, immunoglobulin (Ig)M and IgG seropositivity, avidity, amniocentesis and DNA‐polymerase chain reaction (PCR) results were compared. Costs were calculated based on invoice amounts from the Health Applications Communique pricing system. Results: The prevalence of TORCH seropositivity in Turkey was not significantly different between all regions (P > 0.05). Overall, 1333 (13.67%) pregnant Syrian refugees were included in the study. Acute CMV, rubella and Toxoplasma gondii infections (according to low IgG avidity in IgM positive patients) were detected in 17.82%, 21.53% and 14.07% of women, respectively. Twenty‐four women underwent an amniocentesis procedure and nine of them had positive DNA‐PCR and reverse transcription‐PCR results. All women with positive results opted to terminate the pregnancy. There was no statistical difference among groups according to the rate of low IgG avidity in IgM‐positive patients and termination rates for T. gondii, rubella and CMV (P > 0.05). Total cost for screening the entire study population was presented in US dollars (USD). A total of 71 529 and prenatal diagnosis with positive invasive test results were obtained in nine women: toxoplasmosis in four, CMV in three and rubella in two women. Conclusion: Population‐based screening for prenatal TORCH infections is not cost‐effective in Turkey. Syrian refugees have a limited effect on the increasing prevalence of congenital TORCH infections. [ABSTRACT FROM AUTHOR]

Fever from the Zika virus is poorly known, with only 18% of human infections having clinical manifestations. In recent months, the number of cases of neonatal microcephaly, possibly related to the Zika virus, grew significantly in Brazil, emerging as a global health problem. The aim of this study was to seek evidences in the literature to gather and synthesize the knowledge produced on the relationship between the infection from the Zika virus during pregnancy and the neonatal consequences through an integrative literature review. The search for references was carried out in the databases of BVS, PubMed, CINAHL, Web of Science, in government sites (Ministry of Health and FIOCRUZ), and the World Health Organization, identifying four articles and four protocols that complied with the criteria established. The articles had a low level of evidence, but helped determine evidence of transplacental transmission of the Zika virus; however, there is still no evidence that the Zika virus triggers microcephaly. [ABSTRACT FROM AUTHOR]

The discovery of fetal mRNA transcripts in the maternal circulation holds great promise for noninvasive prenatal diagnosis. To identify potential fetal biomarkers, we studied whole blood and plasma gene transcripts that were common to 9 term pregnant women and their newborns but absent or reduced in the mothers postpartum. RNA was isolated from peripheral or umbilical blood and hybridized to gene expression arrays. Gene expression, paired Student's t test, and pathway analyses were performed. In whole blood, 157 gene transcripts met statistical significance. These fetal biomarkers included 27 developmental genes, 5 sensory perception genes, and 22 genes involved in neonatal physiology. Transcripts were predominantly expressed or restricted to the fetus, the embryo, or the neonate. Real-time RT-PCR amplification confirmed the presence of specific gene transcripts; SNP analysis demonstrated the presence of 3 fetal transcripts in maternal antepartum blood. Comparison of whole blood and plasma samples from the same pregnant woman suggested that placental genes are more easily detected in plasma. We conclude that fetal and placental mRNA circulates in the blood of pregnant women. Transcriptional analysis of maternal whole blood identifies a unique set of biologically diverse fetal genes and has a multitude of clinical applications. [ABSTRACT FROM AUTHOR]