ObjectivesTo describe our experience with non‐invasive prenatal testing (NIPT) in twin pregnancy.MethodsTwo sets of maternal blood samples from twin pregnancies were analyzed at our laboratory using NIPT: 115 stored samples from pregnancies with known outcome (Clinical Study A) and 487 prospectively collected samples for which outcomes were requested from providers (Clinical Study B). NIPT was used to screen for the presence of fetal aneuploidy on chromosomes 13, 18, 21, X and Y in all cases, and results were compared with outcomes when known.ResultsIn Clinical Study A, all 115 samples were classified correctly by NIPT: three cases of trisomy 21 (one fetus affected), one of monochorionic trisomy 18 (both fetuses affected) and 111 euploid. In Clinical Study B, a NIPT result was reported for 479 (98.4%) of the 487 samples. Aneuploidy was detected or suspected in nine (1.9%) cases: seven cases of trisomy 21 detected, one case of trisomy 21 suspected and one case with trisomy 21 detected and trisomy 18 suspected. Information on aneuploidy outcome was available for 171 (35.7%) cases in Clinical Study B. Of the nine cases with aneuploidy detected or suspected, six were confirmed to be a true positive in at least one twin based on karyotype or birth outcome and two were suspected to be concordant based on ultrasound findings; the one known discordant result was for the aneuploidy suspected case. No false negatives were reported.Conclusion NIPT performed well in the detection of trisomy 21 in twin pregnancy, with a combined false‐positive frequency for trisomies 13, 18 and 21 of 0% for Clinical Study A and 0.2% for Clinical Study B. © 2016 Illumina. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

In this study, we wanted to assess the impact of the use of a patient educational app on patient knowledge about noninvasive prenatal testing (NIPT) and preparedness for prenatal screening decision-making. A randomized control study was carried out at three international sites between January 2019 and October 2020. Study participants completed a pre-consultation survey and post-consultation survey to assess knowledge, satisfaction, and preparedness for prenatal screening consultation. Providers completed a post-consultation survey. In the control arm, the pre-consultation survey was completed prior to consultation with their prenatal care provider. In the intervention arm, the pre-consultation survey was completed after using the app but prior to consultation with their prenatal care provider. Mean knowledge scores in the 203 participants using the app were significantly higher pre-consultation (p < 0.001) and post-consultation (p < 0.005) than those not using the app. Higher pre-consultation knowledge scores in the intervention group were observed at all sites. Most (86%) app users stated they were “Satisfied” or “Very Satisfied” with it as a tool. Providers rated the intervention group as more prepared than controls (p = 0.027); provider assessment of knowledge was not significantly different (p = 0.073). This study shows that clinical implementation of a patient educational app in a real-world setting was feasible, acceptable to pregnant people, and positively impacted patient knowledge.

Introduction: Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is typically carried out to screen for common fetal chromosomal anomalies, with the option to screen for a wider range of chromosomal changes (expanded NIPT) becoming increasingly available. However, little is known about pregnant patients’ attitudes and preferences regarding expanded NIPT.Methods: To address this gap, we surveyed general-risk patients having first-tier cfDNA screening at a private prenatal clinic on their expectations for expanded NIPT. Patients were asked questions regarding their current pregnancy and previous pregnancy history, their opinions on fetal DNA screenings during pregnancy and incidental findings, information and opinions on financial resources for NIPT, as well as socio-cultural questions to determine patient demographics.Results: Of the 200 survey participants, the majority were educated, self-reported as white, had a higher than average income, and reported no aneuploidy risk factors. When asked what information they would like to receive from cfDNA screening, the vast majority of participants wanted all information available that could have an immediate impact on fetal health (88%) or an immediate impact on infant health from birth (82%). Many participants also wanted information that could have a future impact on the child’s health or an immediate or future impact on the pregnant woman’s own health. Most participants wanted information about the sex of fetus (86%) and common trisomies (71%), with almost half of participants desiring information about rare autosomal aneuploidies and/or all genetic information that may affect the baby. In addition, participants were found to be comfortable screening for conditions that are well-known, influence care during pregnancy, and are treatable. Finally, while most respondents either had insurance coverage for NIPT or were able to afford NIPT out of pocket, the majority of our participants felt that expanded NIPT should be either free for everyone or for those considered high risk.Discussion: Our findings suggest that with appropriate pre-test counseling, pregnant patients may choose NIPT for an expanding list of conditions.

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