First-trimester Combined Screening Test for Aneuploidies in Brazilian Unselected Pregnancies: Diagnostic Performance of Fetal Medicine Foundation Algorithm
“…Consistent with those previous studies for VTS pregnancies, 16‐20 in our study, most of NIPT positive cases were false‐positive and the PPV was lower than those described in the studies for ART singleton and twin pregnancies, 14,31 but similar to conventional prenatal screening (2%‐8%) 32‐35 . Even so, the proportion of positive results was still relatively low.…”
Objective
The objective of the study is to assess the clinical application of noninvasive prenatal testing (NIPT) for VTS pregnancies after the treatment of assisted reproductive technology (ART).
Method
This was a retrospective study on VTS pregnancies through ART treatment. Participants underwent NIPT at 11 to 13 weeks gestation by sequencing. Resampling was recommended for both positive and testing failure cases. For NIPT positive results, participants were advised to have invasive testing. Clinical outcomes were obtained by telephone interview.
Results
In total of 579 cases, testing failure rates after first sampling and resampling were 7.6% and 1.4%, respectively. Twelve positive results were reported by NIPT. But only one true positive was confirmed, giving a PPV of 8%. A total of 576 cases completed the follow‐up (including 533 NIPT negative, 12 positive, and 31 testing failure) and three cases lost follow‐up. Among the 536 cases with NIPT negative results, 504 (94.0%) resulted in live‐birth and 29 (5.4%) resulted in miscarriage or stillbirths. No false‐negative result was reported.
Conclusion
NIPT has the potential to be used in prenatal screening for VTS pregnancies. For the pregnant women who obtained positive and testing failure results, resampling after 15 weeks of gestation is recommended.
“…Consistent with those previous studies for VTS pregnancies, 16‐20 in our study, most of NIPT positive cases were false‐positive and the PPV was lower than those described in the studies for ART singleton and twin pregnancies, 14,31 but similar to conventional prenatal screening (2%‐8%) 32‐35 . Even so, the proportion of positive results was still relatively low.…”
Objective
The objective of the study is to assess the clinical application of noninvasive prenatal testing (NIPT) for VTS pregnancies after the treatment of assisted reproductive technology (ART).
Method
This was a retrospective study on VTS pregnancies through ART treatment. Participants underwent NIPT at 11 to 13 weeks gestation by sequencing. Resampling was recommended for both positive and testing failure cases. For NIPT positive results, participants were advised to have invasive testing. Clinical outcomes were obtained by telephone interview.
Results
In total of 579 cases, testing failure rates after first sampling and resampling were 7.6% and 1.4%, respectively. Twelve positive results were reported by NIPT. But only one true positive was confirmed, giving a PPV of 8%. A total of 576 cases completed the follow‐up (including 533 NIPT negative, 12 positive, and 31 testing failure) and three cases lost follow‐up. Among the 536 cases with NIPT negative results, 504 (94.0%) resulted in live‐birth and 29 (5.4%) resulted in miscarriage or stillbirths. No false‐negative result was reported.
Conclusion
NIPT has the potential to be used in prenatal screening for VTS pregnancies. For the pregnant women who obtained positive and testing failure results, resampling after 15 weeks of gestation is recommended.
“…An increase in the intermediate risk group (2012/13: 15.3 % vs. 2019: 22.4 %, p = 0.001) could be particularly observed and might, at least in part, be explained by a lower utilization of additional serum biochemistry with the possibility of further risk reduction in group 1, as mentioned above. Because it is a tertiary referral center, the proportion of patients belonging to the high-risk group (11.2 %) is considerably higher compared to other studies [22,23], and this should be kept in mind.…”
Objective To investigate the uptake of different components of first trimester screening (FTS) and the impact on invasive diagnostic testing (IPT) since the introduction of
non-invasive prenatal testing (NIPT) at a level III center.
Methods Retrospective data analysis was conducted for singleton pregnancies that presented for FTS between 01/2019–12/2019 (group 1, n = 990). Patients were categorized into three
risk groups: low risk for trisomy 21 (< 1 : 1000), intermediate risk (1 : 101–1 : 1000) and high risk (≥ 1 : 100). Uptake of NIPT and IPT was analyzed for each of the risk groups. Results
were compared to a previous cohort from 2012/2013 (immediately after the introduction of NIPT, group 2, n = 1178).
Results Group 1 showed a significant increase in the use of NIPT as part of FTS (29.5% vs. 3.7% for group 2, p = 0.001) in all three risk groups. Overall IPT rates were lower in
group 1 (8.6%) vs. group 2 (11.3%, p = 0.038), mainly due to a significant reduction of IPT in the intermediate risk group. IPT rates in the high-risk group remained stable over time.
Conclusion Appropriate clinical implementation of NIPT is still currently a challenge for prenatal medicine experts. Our data suggest that widespread uptake of NIPT is becoming more
common these days; however, a contingent approach might prevent redundant uptake.
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