Prenatal serum screening - a summary of our experience with high risk reporting

Author(s):  
Prachi Sinkar ◽  
Sandhya Iyer ◽  
Kallathikumar Kallathiyan
2017 ◽  
Vol 242 (5) ◽  
pp. 547-553
Author(s):  
Huiying Hu ◽  
Yulin Jiang ◽  
Minghui Zhang ◽  
Shanying Liu ◽  
Na Hao ◽  
...  

To evaluate, side by side, the efficiency of dried blood spots (DBSs) against serum screening for Down’s syndrome, and then, to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down’s syndrome. One thousand eight hundred and thirty-seven low-risk Chinese women, with singleton pregnancy, were enrolled for the study. Alpha-fetoprotein and free beta human chorionic gonadotropin were measured for the serum as well as for the parallel DBS samples. Partial high-risk pregnant women identified by primary blood testing (n = 38) were also subject to the secondary cfDNA screening. Diagnostic amniocentesis was utilized to confirm the screening results. The true positive rate for Down’s syndrome detection was 100% for both blood screening methods; however, the false-positive rate was 3.0% for DBS and 4.0% for serum screening, respectively. DBS correlated well with serum screening on Down’s syndrome detection. Three out of 38 primary high-risk women displayed chromosomal abnormalities by cfDNA analysis, which were confirmed by amniocentesis. Either the true detection rate or the false-positive rate for Down’s syndrome between DBS and the serum test is comparable. In addition, blood primary screening aligned with secondary cfDNA analysis, a “before and after” two-tier screening strategy, can massively decrease the false-positive rate, which, then, dramatically reduces the demand for invasive diagnostic operation. Impact statement Children born with Down’s syndrome display a wide range of mental and physical disability. Currently, there is no effective treatment to ease the burden and anxiety of the Down’s syndrome family and the surrounding society. This study is to evaluate the efficiency of dried blood spots against serum screening for Down’s syndrome and to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down’s syndrome. Results demonstrate that fetal cfDNA can significantly reduce false-positive rate close to none while distinguishing all true positives. Thus, we recommend that fetal cfDNA analysis to be utilized as a secondary screening tool atop of the primary blood protein screening to further minimize the capacity of undesirable invasive diagnostic operations.


2012 ◽  
Vol 27 (3) ◽  
pp. 598-602 ◽  
Author(s):  
Masanori Ito ◽  
Masaharu Yoshihara ◽  
Shunsuke Takata ◽  
Yoshihiro Wada ◽  
Taiji Matsuo ◽  
...  

2021 ◽  
Author(s):  
Laís Picinini Freitas ◽  
Rachel Lowe ◽  
Andrew E. Koepp ◽  
Sandra Valongueiro Alves ◽  
Molly Dondero ◽  
...  

AbstractNortheast Brazil has the world’s highest rate of Zika-related microcephaly. Yet, in this hard-hit region, traditional case counts of Zika cannot accurately describe Zika risk. Reporting of Zika cases only became mandatory after its association with microcephaly in neonates, when the Zika epidemic was already declining in the region. To advance the study of the Brazilian Zika epidemic and its impacts, we identified hotspots of Zika in Pernambuco state, Northeast Brazil, using Aedes-borne diseases (dengue, chikungunya and Zika) and microcephaly data. We used the Kulldorff’s Poisson purely spatial scan statistic to detect low- and high-risk clusters and combined the results to identify the municipalities most affected by the Zika epidemic. Municipalities were classified as hotspots if they were part of any high-risk cluster, and classified according to a gradient of Zika burden during the epidemic, considering the strength of the evidence. In Pernambuco, officials confirmed 123,934 dengue cases, 167 Zika cases, and 32,983 chikungunya cases between 2014-2017, and 800 microcephaly cases between 2015-2017. We identified 26 Aedes-borne diseases clusters (11 high-risk), and 5 microcephaly cases clusters (3 high-risk). Combining the results, sixty-three out of 184 municipalities were identified as hotspots for Zika. The northeast of Pernambuco and the Sertão region were hit hardest by the Zika epidemic. The first is the most populous area, while the second has one of the highest rates of social and economic inequality in Brazil. The identification of Sertão as a Zika hotspot was only possible because the clusters results were combined. The under-reporting of acute infectious diseases is expected to be higher in poor areas. Therefore, using only Aedes-borne data does not correctly identify the high-risk areas. We successfully identified hidden Zika hotspots using a simple methodology combining Aedes-borne diseases and microcephaly information.


1982 ◽  
Vol 47 (4) ◽  
pp. 373-375 ◽  
Author(s):  
James L. Fitch ◽  
Thomas F. Williams ◽  
Josephine E. Etienne

The critical need to identify children with hearing loss and provide treatment at the earliest possible age has become increasingly apparent in recent years (Northern & Downs, 1978). Reduction of the auditory signal during the critical language-learning period can severely limit the child's potential for developing a complete, effective communication system. Identification and treatment of children having handicapping conditions at an early age has gained impetus through the Handicapped Children's Early Education Program (HCEEP) projects funded by the Bureau of Education for the Handicapped (BEH).


1983 ◽  
Vol 48 (1) ◽  
pp. 110-110

For the November 1982 JSHD article, "A Community Based High Risk Register for Hearing Loss," the author would like to acknowledge three additional individuals who made valuable contributions to the study. They are Marie Carrier, Gene Lyon, and Bobbie Robertson.


1997 ◽  
Vol 27 (11) ◽  
pp. 1247-1253 ◽  
Author(s):  
M. L. BURR ◽  
T. G. MERRETT ◽  
F. D. J. DUNSTAN ◽  
M. J. MAGUIRE
Keyword(s):  

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