Characteristics and Quality of Mobile Apps Containing Prenatal Genetic Testing Information: Systematic App Store Search and Assessment

Background Prenatal genetic testing is an essential part of routine prenatal care. Yet, obstetricians often lack the time to provide comprehensive prenatal genetic testing education to their patients. Pregnant women lack prenatal genetic testing knowledge, which may hinder informed decision-making during their pregnancies. Due to the rapid growth of technology, mobile apps are a potentially valuable educational tool through which pregnant women can learn about prenatal genetic testing and improve the quality of their communication with obstetricians. The characteristics, quality, and number of available apps containing prenatal genetic testing information are, however, unknown. Objective This study aims to conduct a firstreview to identify, evaluate, and summarize currently available mobile apps that contain prenatal genetic testing information using a systematic approach. Methods We searched both the Apple App Store and Google Play for mobile apps containing prenatal genetic testing information. The quality of apps was assessed based on the criteria adopted from two commonly used and validated mobile app scoring systems, including the Mobile Application Rating Scale (MARS) and the APPLICATIONS evaluation criteria. Results A total of 64 mobile apps were identified. Of these, only 2 apps were developed for a specific prenatal genetic test. All others were either pregnancy-related (61/64, 95%) or genetics-related (1/64, 2%) apps that provided prenatal genetic testing information. The majority of the apps (49/64, 77%) were developed by commercial companies. The mean quality assessment score of the included apps was 13.5 (SD 2.9), which was equal to the average of possible theoretical score. Overall, the main weaknesses of mobile apps in this review included the limited number of prenatal genetic tests mentioned; incomprehensiveness of testing information; unreliable and missing information sources; absence of developmental testing with users (not evidence based); high level of readability; and the lack of visual information, customization, and a text search field. Conclusions Our findings suggest that the quality of mobile apps with prenatal genetic testing information must be improved and that pregnant women should be cautious when using these apps for prenatal genetic testing information. Obstetricians should carefully examine mobile apps before referring any of them to their patients for use as an educational tool. Both improving the quality of existing mobile apps, and developing new, evidence-based, high-quality mobile apps targeting all prenatal genetic tests should be the focus of mobile app developers going forward.

Changing indications of prenatal diagnosis in molecular era: experience of single centre in North India

Background: About 3-5% of pregnancies are complicated by chromosomal aberrations and birth defects. In the past prenatal genetic testing is identified to be largely restricted to the detection of chromosomal abnormalities like aneuploidy. With advances in the field of medical genetics, there has been substantial rise in use of prenatal genetic testing and we wanted to find out the same in our cohort of patients.Methods: Study design was retrospective, single-center observational study. Pregnant patients who underwent invasive testing for prenatal genetic disorder at fetal medicine specialty were considered for inclusion in the study. The invasive procedures that were performed in our study were amniocentesis, chorionic villous sampling (CVS) and cordocentesis.Results: Total 515 pregnant women underwent prenatal testing. Amniocentesis was the most common procedure to be performed accounting for about 74% of total cases. In our cohort, abnormal aneuploidy screening was the most common indication for performing prenatal diagnosis (64% of cases), while 12.8 % underwent prenatal diagnosis due to abnormalities/genetic disorder in previous child. Abnormalities in antenatal ultrasonography accounted for 16% of cases. Quantitative fluorescene polymerase chain reaction, rapid aneuploidy testing (QFPCR) was performed in all the cases. Karyotype was performed in 273 cases while chromosomal microarray was performed on 92 samples. Multiplex ligation dependent probe amplification (MLPA) was done for 15 patients. Targeted mutation testing (Sanger sequencing) was done on 121 prenatal samples. Exome sequencing was performed on 14 fetuses. Out of 515 a total of 79 fetuses (15.3%) were found to have genetic disorder. Aneuploidies were identified in 11 fetuses (2.1%), 12 fetuses (2.3%) were found to have pathogenic CNVs (Copy number variants). Single gene disorders were found in 56 fetuses (10.8%). Conclusions: We have moved very rapidly from Karyotyping to chromosomal microarray to exome sequencing. There has been rapid change in the indications for prenatal Diagnosis from yesteryears with coming of new era of genetics.

Characteristics and Quality of Mobile Applications for Prenatal Genetic Testing: An Assessment (Preprint)

BACKGROUND Prenatal genetic testing is an essential part of routine prenatal care. Yet, obstetricians often lack the time to provide comprehensive prenatal genetic testing education to their patients. Pregnant women lack prenatal genetic testing knowledge, which may hinder informed decision-making during their pregnancies. Due to the rapid growth of technology, mobile applications (apps) are a potentially valuable educational tool through which pregnant women can learn about prenatal genetic testing and improve the quality of their communication with obstetricians. The characteristics, quality, and number of available apps containing prenatal genetic testing information was, however, unknown. OBJECTIVE To conduct the first review to identify, evaluate, and summarize currently available prenatal genetic testing mobile apps using a systematic approach. METHODS We searched both the Apple App Store and Google Play to find mobile apps containing prenatal genetic testing information. The quality of apps was assessed based upon criteria adapted from two commonly used and validated mobile app scoring systems including “MARS” and “APPLICATIONS”. RESULTS Sixty-four mobile apps were identified. Of these, only two apps were developed for a specific prenatal genetic test. All other apps were either pregnancy-related (95.3%) or genetics (1.6%) apps that provided prenatal genetic testing information. The majority of the apps (76.5%) were developed by commercial companies. The mean quality assessment score of the included apps was 13.5, which was equal to the average of possible theoretical score. Overall, the main weaknesses of mobile apps in this review included the limited number of prenatal genetic tests mentioned, incomprehensiveness of testing information, unreliable and missing information sources, absence of developmental testing with users (not evidenced-based), high level of readability, and lack of visual information, customization, and a text search field. CONCLUSIONS Our findings suggest that the quality of prenatal genetic testing-related mobile apps must be improved, and that pregnant women should be cautious when utilizing these mobile apps for prenatal genetic testing information. Obstetricians should carefully examine mobile apps before referring any of them to their patients for use as an educational tool. Both improving the quality of existing mobile apps, and developing new, evidence-based, high-quality mobile apps targeting all prenatal genetic tests should be the focus of mobile app developers going forward.

A Randomized Controlled Trial on the Effect of Standardized Video Education on Prenatal Genetic Testing Choices: Uptake of Genetic Testing

Objective This study aimed to assess the use of a standardized prenatal genetic testing educational video and its effects on patient uptake of prenatal testing, patient knowledge, decisional conflict, and decisional regret. Study Design This was an IRB-approved randomized controlled trial. Patients were randomized to intervention (standardized video education) or control (no video education). The video education group viewed a 5-minute educational video on genetic testing options, and the control group did not review the video. Both groups answered validated questionnaires to assess maternal knowledge (Maternal Serum Screening Knowledge Questionnaire [MSSK]), conflict (Decisional Conflict Scale [DCS]), and regret (Decisional Regret Scale [DRS]). The primary outcome was genetic testing uptake; secondary outcomes were knowledge-based test score, and level of decisional conflict and regret. Results We enrolled 210 patients between 2016 and 2020, with 208 patients randomized, 103 patients in the video education group and 105 patients in the control group. Four patients were excluded from the video education group for missing data. Video education was associated with a 39% lower chance of prenatal testing compared with patients who did not receive video education, (odds ratio 0.39, 95% confidence interval 0.16–0.92). Patients in the video education group had higher mean MSSKQ scores by 2.9 points (8.5 vs. 5.7, p < 0.001), lower Decisional Conflict Scores by 7.3 points (31.5 vs. 38.8, p < 0.001), lower Decisional Regret Scores by 5.4 points (23.8 vs. 29.2, p < 0.001). Conclusion We found that video education on prenatal genetic testing improved patients' knowledge, decreased testing and decisional conflict and regret regarding testing. This may indicate improved understanding of testing options and more informed decisions that align with their personal values and beliefs. This standardized video can be easily implemented in clinical practice to increase patient understanding and support decisions that align with patient's values. Key Points