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Validation of a Single-Nucleotide Polymorphism-Based Non-Invasive Prenatal Test in Twin Gestations: Determination of Zygosity, Individual Fetal Sex, and Fetal Aneuploidy

1
Tufts Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA
2
Natera, Inc., San Carlos, CA 94070, USA
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Dr. Israel Aruh’s IVF and Infertility Clinic, 35220 Izmir, Turkey
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Ospedale Maggiore Policlinico, 20122 Milan, Italy
5
Northwestern University, Feinberg School of Medicine, Chicago, IL 60611, USA
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Houston Perinatal Associates, Houston, TX 77054, USA
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UConn Health, Farmington, CT 06030, USA
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University of California Davis Health, Sacramento, CA 95819, USA
*
Author to whom correspondence should be addressed.
Present Address: Palo Alto Medical Foundation, San Carlos, CA 94070, USA.
Present Address: Grail, Inc., Menlo Park, CA 94025, USA.
J. Clin. Med. 2019, 8(7), 937; https://doi.org/10.3390/jcm8070937
Received: 22 May 2019 / Revised: 20 June 2019 / Accepted: 26 June 2019 / Published: 28 June 2019
(This article belongs to the Section Obstetrics & Gynecology)
We analyzed maternal plasma cell-free DNA samples from twin pregnancies in a prospective blinded study to validate a single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) for zygosity, fetal sex, and aneuploidy. Zygosity was evaluated by looking for either one or two fetal genome complements, fetal sex was evaluated by evaluating Y-chromosome loci, and aneuploidy was assessed through SNP ratios. Zygosity was correctly predicted in 100% of cases (93/93; 95% confidence interval (CI) 96.1%–100%). Individual fetal sex for both twins was also called with 100% accuracy (102/102; 95% weighted CI 95.2%–100%). All cases with copy number truth were also correctly identified. The dizygotic aneuploidy sensitivity was 100% (10/10; 95% CI 69.2%–100%), and overall specificity was 100% (96/96; 95% weighted CI, 94.8%–100%). The mean fetal fraction (FF) of monozygotic twins (n = 43) was 13.0% (standard deviation (SD), 4.5%); for dizygotic twins (n = 79), the mean lower FF was 6.5% (SD, 3.1%) and the mean higher FF was 8.1% (SD, 3.5%). We conclude SNP-based NIPT for zygosity is of value when chorionicity is uncertain or anomalies are identified. Zygosity, fetal sex, and aneuploidy are complementary evaluations that can be carried out on the same specimen as early as 9 weeks’ gestation. View Full-Text
Keywords: non-invasive prenatal testing; twins; zygosity; aneuploidy; Down syndrome; prenatal screening; chorionicity non-invasive prenatal testing; twins; zygosity; aneuploidy; Down syndrome; prenatal screening; chorionicity
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MDPI and ACS Style

Norwitz, E.R.; McNeill, G.; Kalyan, A.; Rivers, E.; Ahmed, E.; Meng, L.; Vu, P.; Egbert, M.; Shapira, M.; Kobara, K.; Parmar, S.; Goel, S.; Prins, S.A.; Aruh, I.; Persico, N.; Robins, J.C.; Kirshon, B.; Demko, Z.P.; Ryan, A.; Billings, P.R.; Rabinowitz, M.; Benn, P.; Martin, K.A.; Hedriana, H.L. Validation of a Single-Nucleotide Polymorphism-Based Non-Invasive Prenatal Test in Twin Gestations: Determination of Zygosity, Individual Fetal Sex, and Fetal Aneuploidy. J. Clin. Med. 2019, 8, 937. https://doi.org/10.3390/jcm8070937

AMA Style

Norwitz ER, McNeill G, Kalyan A, Rivers E, Ahmed E, Meng L, Vu P, Egbert M, Shapira M, Kobara K, Parmar S, Goel S, Prins SA, Aruh I, Persico N, Robins JC, Kirshon B, Demko ZP, Ryan A, Billings PR, Rabinowitz M, Benn P, Martin KA, Hedriana HL. Validation of a Single-Nucleotide Polymorphism-Based Non-Invasive Prenatal Test in Twin Gestations: Determination of Zygosity, Individual Fetal Sex, and Fetal Aneuploidy. Journal of Clinical Medicine. 2019; 8(7):937. https://doi.org/10.3390/jcm8070937

Chicago/Turabian Style

Norwitz, Errol R.; McNeill, Gabriel; Kalyan, Akshita; Rivers, Elizabeth; Ahmed, Ebad; Meng, Ling; Vu, Phikhanh; Egbert, Melissa; Shapira, Marlene; Kobara, Katie; Parmar, Sheetal; Goel, Shruti; Prins, Sarah A.; Aruh, Israel; Persico, Nicola; Robins, Jared C.; Kirshon, Brian; Demko, Zachary P.; Ryan, Allison; Billings, Paul R.; Rabinowitz, Matthew; Benn, Peter; Martin, Kimberly A.; Hedriana, Herman L. 2019. "Validation of a Single-Nucleotide Polymorphism-Based Non-Invasive Prenatal Test in Twin Gestations: Determination of Zygosity, Individual Fetal Sex, and Fetal Aneuploidy" J. Clin. Med. 8, no. 7: 937. https://doi.org/10.3390/jcm8070937

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