Dataset Information

Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy.

ABSTRACT: BACKGROUND:To evaluate the impact of ultrasonography on identifying noninvasive prenatal screening (NIPS) false-negative aneuploidy. METHODS:Analysis of large population-based NIPS false-negative aneuploidy data comprising karyotypes, clinical outcomes, and ultrasound results. RESULTS:From December 2010 to July 2018, a total of 3,320,457 pregnancies were screened by NIPS performed in BGI; among them, 69 NIPS false-negative aneuploidy cases with informed consent were confirmed, and ultrasound examination data for 48 cases were not available. Of the 21 cases with ultrasound results, 19 (90.5%) had various abnormalities on ultrasound, and two (9.5%) cases were shown to be normal on ultrasound. Additionally, six of seven live-born fetuses (approximately 85.7%) were found to have abnormalities on ultrasound. Ventricular septal defects constituted the most frequently observed ultrasound abnormality type among the 21 NIPS false-negative aneuploidy cases. CONCLUSION:Application of NIPS has increased rapidly worldwide and now accounts for a large proportion of prenatal screening tests in China. This study suggests that ISUOG guideline should be followed practically, and structural abnormal ultrasound findings should not be neglected, even when NIPS produces a negative result. Combining NIPS with an ultrasound examination can further reduce the incidence of live births with aneuploidy.

SUBMITTER: Li W

PROVIDER: S-EPMC7284037 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy.

Li Wei W Zeng Fanwei F Fan Baitong B Yu Nan N Wu Jing J Yang Yun Y Huang Hui H Li Sheng-Li SL Peng Zhiyu Z

Molecular genetics & genomic medicine 20200321 6

<h4>Background</h4>To evaluate the impact of ultrasonography on identifying noninvasive prenatal screening (NIPS) false-negative aneuploidy.<h4>Methods</h4>Analysis of large population-based NIPS false-negative aneuploidy data comprising karyotypes, clinical outcomes, and ultrasound results.<h4>Results</h4>From December 2010 to July 2018, a total of 3,320,457 pregnancies were screened by NIPS performed in BGI; among them, 69 NIPS false-negative aneuploidy cases with informed consent were confirm ...[more]

PMID: 32198849

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Project description:Background: Noninvasive prenatal screening (NIPS) utilization has grown dramatically and is increasingly offered to the general population by nongenetic specialists. Web-based technologies and telegenetic services offer potential solutions for efficient results delivery and genetic counseling. Introduction: All major guidelines recommend patients with both negative and positive results be counseled. The main objective of this study was to quantify patient utilization, motivation for posttest counseling, and satisfaction of a technology platform designed for large-scale dissemination of NIPS results. Methods: The technology platform provided general education videos to patients, results delivery through a secure portal, and access to telegenetic counseling through phone. Automatic results delivery to patients was sent only to patients with screen-negative results. For patients with screen-positive results, either the ordering provider or a board-certified genetic counselor contacted the patient directly through phone to communicate the test results and provide counseling. Results: Over a 39-month period, 67,122 NIPS results were issued through the platform, and 4,673 patients elected genetic counseling consultations; 95.2% (n = 4,450) of consultations were for patients receiving negative results. More than 70% (n = 3,370) of consultations were on-demand rather than scheduled. A positive screen, advanced maternal age, family history, previous history of a pregnancy with a chromosomal abnormality, and other high-risk pregnancy were associated with the greatest odds of electing genetic counseling. By combining web education, automated notifications, and telegenetic counseling, we implemented a service that facilitates results disclosure for ordering providers. Discussion: This automated results delivery platform illustrates the use of technology in managing large-scale disclosure of NIPS results. Further studies should address effectiveness and satisfaction among patients and providers in greater detail. Conclusions: These data demonstrate the capability to deliver NIPS results, education, and counseling-congruent with professional society management guidelines-to a large population.

Dataset Information

Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy.

Publications

Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy.

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