Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Details of Study Cohort
3.2. cfDNA Screening Results for Twin Samples
3.3. Clinical Outcomes for High-Risk NIPT Cases
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Characteristic | Value |
---|---|
Indications for NIPT, n (%) Advanced maternal age Based on traditional screening 1 Based on pregnancy history 2 Parental carrier of balanced translocation 3 Patient preference Unknown | 628 (50.5) 25 (2.0) 12 (1.0) 2 (0.2) 288 (23.1) 289 (23.2) |
Maternal age/Egg donor age, y Mean Median IQR | 35.22 35.05 6.48 |
Gestational age at NIPT, days Mean Median IQR | 12.4 12.14 1.71 |
Trimester of screening, n (%) First (up to 14 wk) Second (14–27 wk) | 1111(89.3) 133 (10.7) |
ART pregnancies, n (%) Total IVF ICSI IUI Egg donation 4 PGT-A transfer euploid embryo Not specified | 370 (30.5) 12 (1.0) 15 (1.3) 5 (0.5) 35 (2.6) 7 (0.6) 282 (24.5) |
Chorionicity, n (%) Dichorionic pregnancy 5 Monochorionic pregnancy 6 Chorionicity unknown | 1080 (86.8) 66 5.3) 98 (7.8) |
NIPT Result | n | Lost to Follow-Up | No Confirmatory Testing | True Positives | Discordant Result |
Trisomy 21 | 18 | 0 | 1 * | 17 | 1 |
Trisomy 18 | 1 | 0 | 0 | 1 | 0 |
RAA | 6 | 1 | 1 * | 0 | 4 |
CNV | 4 | 1 | 0 | 0 | 2 |
Case | Indication for NIPT | GA at Blood Draw, wk | NIPT Result | FFE, % | Confirmatory Testing | Pregnancy Outcomes |
---|---|---|---|---|---|---|
RAA Cases | ||||||
1 | AMA | 10 | Trisomy 3 | 9 | Amnio; RAA not confirmed | Two healthy babies |
2 | Patient preference | 13 + 6 | Trisomy 3 | 12 | Amnio; RAA not confirmed | Two healthy babies |
3 | AMA | 15 + 2 | Trisomy 5 | 11 | ------ | ------ |
4 | AMA | 13 + 1 | Trisomy 5 | 7 | None | Two healthy babies |
5 | AMA | 11 + 4 | Trisomy 8 | 13 | Postnatal karyotype; RAA not confirmed | Two healthy babies |
6 | Patient preference | 11 + 5 | Trisomy 9 | 10 | None * | One healthy baby |
CNV Cases | ||||||
7 | Patient preference | 12 + 6 | dup(9)(p24.3p13.1) | 15 | ----- | ----- |
8 | AMA | 12 + 6 | dup(18)(p11.31p11.1) | 20 | Amnio; CNV not confirmed | Two healthy babies |
9 | AMA | 11 + 4 | del(1)(p36.32p32.3)(15) | 9 | Amnio; CNV not confirmed | Two healthy babies |
10 | AMA | 13 | dup(7)(p15.2p14.2) | 8 | None | Two healthy babies |
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De Falco, L.; Savarese, G.; Savarese, P.; Petrillo, N.; Ianniello, M.; Ruggiero, R.; Suero, T.; Barbato, C.; Mori, A.; Ramiro, C.; et al. Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies. Genes 2023, 14, 982. https://doi.org/10.3390/genes14050982
De Falco L, Savarese G, Savarese P, Petrillo N, Ianniello M, Ruggiero R, Suero T, Barbato C, Mori A, Ramiro C, et al. Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies. Genes. 2023; 14(5):982. https://doi.org/10.3390/genes14050982
Chicago/Turabian StyleDe Falco, Luigia, Giovanni Savarese, Pasquale Savarese, Nadia Petrillo, Monica Ianniello, Raffaella Ruggiero, Teresa Suero, Cosimo Barbato, Alessio Mori, Cristina Ramiro, and et al. 2023. "Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies" Genes 14, no. 5: 982. https://doi.org/10.3390/genes14050982