Pregnancy (Hoboken, N.J.) · 2026
Results from the VANISH study: A prospective multicenter study validating a single-nucleotide polymorphism-based noninvasive prenatal test to assess aneuploidy risk in surviving twins of vanishing twin pregnancies.
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Dugoff Lorraine, Mumford Sunni L, Rochon Meredith L, Chavez Martin, Kohari Katherine, Scholl Jessica E, Berkin Jill A, Roman Ashley S, Chueh Jane, Wolf Samuel B, Palomares Kristy T S, Hurt K Joseph, Wapner Ronald J, Gorman Kelly, Wick Myra J, Savasan Zeynep Alpay, Platt Lawrence D, Treadwell Marjorie C, Al-Khan Abdulla, Livingston Jeff M, Hoffman Matthew K, Rabin-Havt Sara S, Rabinowitz Matthew, Ahmed Ebad, Saben Jessica L, Sun Nicolas, Butskova Anastasia, Xu Wenbo, Meltzer Jeffrey, Souter Vivienne
Аннотация
INTRODUCTION: To develop and validate a single-nucleotide polymorphism (SNP)-based noninvasive prenatal cell-free DNA (cfDNA) screening algorithm capable of identifying the cfDNA signal of the living fetus in vanishing twin (VT) pregnancies and assessing that twin's aneuploidy risk.
METHODS: Prospective study enrolling participants ≥18 years old at ≥9 weeks' gestation with an ultrasound-confirmed VT at 21 US sites (August 2021 to August 2023). The study protocol specified SNP-based cfDNA screening at enrollment and at two additional 3-week intervals. Neonatal buccal swabs evaluated the SNP profile of the living fetus. Cases lost to follow-up and with missing samples were excluded. Using SNP-based technology, an algorithm to identify the living fetus was developed based on the number of fetoplacental cfDNA signals and individual fetal fraction measurements. Concordance between cfDNA in maternal plasma and newborn buccal-swab SNP profiles was used to validate the algorithm in correctly identifying the living fetus. Common aneuploidies and fetal sex were determined for the living fetus.
RESULTS: Of 136 participants enrolled, 106 met criteria for the final analysis; 45 for development and 61 for validation. In the validation cohort, median gestational age was 10.7 weeks (range: 8.0-16.1 weeks) at ultrasound diagnosis of a VT. In 93.4% of validation cases, the algorithm identified the living fetus and gave an aneuploidy result; 90.2% within the first two blood draws. At the time the living fetus was identified, 39 samples had two fetoplacental signals and 18 had one. Aneuploidy results included 56 low-risk and one high-risk result for trisomy 21. Neonatal buccal swabs confirmed that the VT algorithm correctly identified the living twin and gave a correct aneuploidy result in 57/57 cases (100%; 95% confidence interval [CI]: 93.5%, 100.0%). Among 29 participants with all three blood draws and two fetoplacental signals at enrollment, two signals persisted in 93.1% at the second blood draw and 72.4% at the third.
CONCLUSIONS: The SNP-based algorithm accurately identified the living fetus in VT pregnancies in this small study. Aneuploidy risk assessment was validated in all cases where the cfDNA signal for the living twin was identified, though these findings should be interpreted with caution given the limited sample size.
TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT05004337.
METHODS: Prospective study enrolling participants ≥18 years old at ≥9 weeks' gestation with an ultrasound-confirmed VT at 21 US sites (August 2021 to August 2023). The study protocol specified SNP-based cfDNA screening at enrollment and at two additional 3-week intervals. Neonatal buccal swabs evaluated the SNP profile of the living fetus. Cases lost to follow-up and with missing samples were excluded. Using SNP-based technology, an algorithm to identify the living fetus was developed based on the number of fetoplacental cfDNA signals and individual fetal fraction measurements. Concordance between cfDNA in maternal plasma and newborn buccal-swab SNP profiles was used to validate the algorithm in correctly identifying the living fetus. Common aneuploidies and fetal sex were determined for the living fetus.
RESULTS: Of 136 participants enrolled, 106 met criteria for the final analysis; 45 for development and 61 for validation. In the validation cohort, median gestational age was 10.7 weeks (range: 8.0-16.1 weeks) at ultrasound diagnosis of a VT. In 93.4% of validation cases, the algorithm identified the living fetus and gave an aneuploidy result; 90.2% within the first two blood draws. At the time the living fetus was identified, 39 samples had two fetoplacental signals and 18 had one. Aneuploidy results included 56 low-risk and one high-risk result for trisomy 21. Neonatal buccal swabs confirmed that the VT algorithm correctly identified the living twin and gave a correct aneuploidy result in 57/57 cases (100%; 95% confidence interval [CI]: 93.5%, 100.0%). Among 29 participants with all three blood draws and two fetoplacental signals at enrollment, two signals persisted in 93.1% at the second blood draw and 72.4% at the third.
CONCLUSIONS: The SNP-based algorithm accurately identified the living fetus in VT pregnancies in this small study. Aneuploidy risk assessment was validated in all cases where the cfDNA signal for the living twin was identified, though these findings should be interpreted with caution given the limited sample size.
TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT05004337.