Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, China.
Key laboratory of Reproductive Endocrinology of Ministry of Education, Shandong University, Jinan, China.
Prenat Diagn. 2021 Jan;41(2):226-233. doi: 10.1002/pd.5836. Epub 2020 Nov 30.
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).
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.
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.
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.
本研究旨在评估辅助生殖技术（ART）治疗后的胎儿静脉导管缺如（VTS）妊娠患者行非侵入性产前检测（NIPT）的临床应用。
这是一项通过 ART 治疗的 VTS 妊娠的回顾性研究。参与者在 11 至 13 孕周时通过测序进行 NIPT。对阳性和检测失败的病例均建议重新取样。对于 NIPT 阳性结果，建议进行有创性检测。通过电话访谈获得临床结局。
共有 579 例患者，首次取样和重新取样的检测失败率分别为 7.6%和 1.4%。NIPT 报告了 12 例阳性结果。但仅确认了 1 例为真阳性，阳性预测值（PPV）为 8%。共有 576 例完成了随访（包括 533 例 NIPT 阴性、12 例阳性和 31 例检测失败），3 例失访。在 536 例 NIPT 阴性结果中，504 例（94.0%）分娩活产，29 例（5.4%）发生流产或死胎。未报告假阴性结果。
NIPT 有可能用于 VTS 妊娠的产前筛查。对于获得阳性和检测失败结果的孕妇，建议在 15 孕周后进行重新取样。
