First Trimester Ultrasound and Aneuploidy Screening in Twins

Hopkins, Maeve K.; Neumann, Olivia; Kuller, Jeffrey A.; Dugoff, Lorraine

doi:10.1097/grf.0000000000000797

Cited by 2 publications

(1 citation statement)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…20 As patients with high-risk screening results are typically counseled to undergo confirmatory diagnostic testing, a high false-positive rate can lead to unnecessary invasive diagnostic procedures which may have a higher risk of loss in twin pregnancies. 27 As our study has shown, NIPT offers patients with twin pregnancies a more accurate approach to screen for fetal trisomies, in particular for trisomy 21. Based on known clinical outcomes, we observed both a sensitivity and specificity of > 99.9% for trisomy 21.…”

Section: Discussionmentioning

confidence: 81%

Clinical Experience with Noninvasive Prenatal Testing in Twin Pregnancy Samples at a Single Center in Germany

et al. 2023

View full text Add to dashboard Cite

In this study we wanted to determine the performance of a paired-end sequencing-based noninvasive prenatal testing (NIPT) assay in the detection of common fetal trisomies in twin pregnancy samples. Samples from patients with a twin pregnancy were collected from at least 10 weeks of gestation and analyzed at a single prenatal center in Germany. Results of Anomaly Detected (i.e., high risk) or No Anomaly Detected (i.e., low risk) for trisomy 21, trisomy 18, or trisomy 13 were reported. Follow-up confirmatory outcomes were requested for all cases. A total of 1,658 patients with twin pregnancies submitted samples during the study period; only two of these samples failed resulting in a low failure rate of 0.12%. Of the remaining 1,656 cases, there were 1,625 (98.1%) low-risk and 31 (1.9%) high-risk NIPT samples in our cohort. Of these, follow-up information was available for 301 (18.5%) of the low-risk samples and 19 (61.3%) of the high-risk samples. All of the low-risk cases with follow-up were determined to be true negatives giving an estimated negative predictive value of 100%. Seventeen of the 19 high-risk samples with follow-up were true positives, resulting in an overall positive predictive value of 89.5%. Sensitivities of > 99.9% were noted for both trisomy 21 and trisomy 18, with high specificities of ≥ 99.7% observed for all three trisomies. In conclusion, our study showed strong performance of the NIPT assay in the detection of common fetal trisomies in twin pregnancy samples, with high sensitivities, specificities, and positive predictive values observed based on known clinical outcomes along with a low failure rate.

show abstract

Section: Discussionmentioning

confidence: 81%