The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort
Abstract Introduction Our objective was to evaluate the efficacy of expanded non‐invasive prenatal testing (NIPT) that includes both trisomies and copy number variants (CNVs) in high‐risk twin pregnancies. Material and Methods A prospective, double‐blinded cohort study was conducted, enrolling 73 hi...
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Wiley
2024-12-01
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| Series: | Acta Obstetricia et Gynecologica Scandinavica |
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| Online Access: | https://doi.org/10.1111/aogs.14958 |
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| author | Meng Meng Jianping Chen Yingjun Yang Yun Zhang Gang Zou Fenhe Zhou Xing Wei Yuchun Ge Jia Zhou Luming Sun |
| author_facet | Meng Meng Jianping Chen Yingjun Yang Yun Zhang Gang Zou Fenhe Zhou Xing Wei Yuchun Ge Jia Zhou Luming Sun |
| author_sort | Meng Meng |
| collection | DOAJ |
| description | Abstract Introduction Our objective was to evaluate the efficacy of expanded non‐invasive prenatal testing (NIPT) that includes both trisomies and copy number variants (CNVs) in high‐risk twin pregnancies. Material and Methods A prospective, double‐blinded cohort study was conducted, enrolling 73 high‐risk twin pregnancies characterized by increased risk of genetic disorders due to factors such as increased nuchal translucency, structural anomalies, fetal growth restriction, and other factors associated with chromosomal abnormality. Participants underwent invasive karyotyping and chromosomal microarray analysis, alongside separate expanded NIPT for research purposes. The sensitivity, specificity, positive predictive value, and negative predictive value of expanded NIPT were calculated. Results The cohort included 24 monochorionic and 49 dichorionic twin pregnancies. The median cell‐free fetal DNA concentration in expanded NIPT was 16.7% (range 3.86%–49.1%), with a test failure rate of 1.4% (1/73). High‐risk findings for trisomy 21/13/18 were identified in five cases (6.8%), Turner syndrome in one case (1.4%), and CNVs indicative of high risk for clinically significant microdeletion/microduplication syndromes (MMS) in ten cases (13.7%). Of these, 56 cases (76.7%) tested NIPT negative, revealing one false‐negative for 45, X and five false‐negatives for CNVs. Expanded NIPT achieved a detection rate of 100% (5/5) for trisomy 21/13/18 with a false‐positive rate of 0% (0/5), a detection rate of 33.3% (1/3) for sex chromosome abnormalities with a false‐positive rate of 0% (0/3), and a detection rate of 66.7% (4/6) for MMS with a false‐positive rate of 3.0% (2/67). The positive predictive values for trisomy T21/13/18, sex chromosome abnormalities, and known MMS were 100% (5/5), 100% (1/1), and 66.7% (4/6) in the expanded NIPT, respectively. Conclusions The expanded NIPT demonstrated high detection rates for common trisomies and moderate detection rates for prenatal MMS in high‐risk twin pregnancies. Further studies with large sample sizes in low‐risk populations are needed. |
| format | Article |
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| institution | Kabale University |
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| series | Acta Obstetricia et Gynecologica Scandinavica |
| spelling | doaj-art-45a4e43ce6c74b71bd3e248e29887aec2025-08-20T03:31:00ZengWileyActa Obstetricia et Gynecologica Scandinavica0001-63491600-04122024-12-01103122426243210.1111/aogs.14958The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohortMeng Meng0Jianping Chen1Yingjun Yang2Yun Zhang3Gang Zou4Fenhe Zhou5Xing Wei6Yuchun Ge7Jia Zhou8Luming Sun9Department of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University Shanghai ChinaDepartment of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University Shanghai ChinaDepartment of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University Shanghai ChinaDepartment of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University Shanghai ChinaDepartment of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University Shanghai ChinaDepartment of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University Shanghai ChinaDepartment of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University Shanghai ChinaDepartment of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University Shanghai ChinaDepartment of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University Shanghai ChinaDepartment of Fetal Medicine & Prenatal Diagnosis Center, Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University Shanghai ChinaAbstract Introduction Our objective was to evaluate the efficacy of expanded non‐invasive prenatal testing (NIPT) that includes both trisomies and copy number variants (CNVs) in high‐risk twin pregnancies. Material and Methods A prospective, double‐blinded cohort study was conducted, enrolling 73 high‐risk twin pregnancies characterized by increased risk of genetic disorders due to factors such as increased nuchal translucency, structural anomalies, fetal growth restriction, and other factors associated with chromosomal abnormality. Participants underwent invasive karyotyping and chromosomal microarray analysis, alongside separate expanded NIPT for research purposes. The sensitivity, specificity, positive predictive value, and negative predictive value of expanded NIPT were calculated. Results The cohort included 24 monochorionic and 49 dichorionic twin pregnancies. The median cell‐free fetal DNA concentration in expanded NIPT was 16.7% (range 3.86%–49.1%), with a test failure rate of 1.4% (1/73). High‐risk findings for trisomy 21/13/18 were identified in five cases (6.8%), Turner syndrome in one case (1.4%), and CNVs indicative of high risk for clinically significant microdeletion/microduplication syndromes (MMS) in ten cases (13.7%). Of these, 56 cases (76.7%) tested NIPT negative, revealing one false‐negative for 45, X and five false‐negatives for CNVs. Expanded NIPT achieved a detection rate of 100% (5/5) for trisomy 21/13/18 with a false‐positive rate of 0% (0/5), a detection rate of 33.3% (1/3) for sex chromosome abnormalities with a false‐positive rate of 0% (0/3), and a detection rate of 66.7% (4/6) for MMS with a false‐positive rate of 3.0% (2/67). The positive predictive values for trisomy T21/13/18, sex chromosome abnormalities, and known MMS were 100% (5/5), 100% (1/1), and 66.7% (4/6) in the expanded NIPT, respectively. Conclusions The expanded NIPT demonstrated high detection rates for common trisomies and moderate detection rates for prenatal MMS in high‐risk twin pregnancies. Further studies with large sample sizes in low‐risk populations are needed.https://doi.org/10.1111/aogs.14958aneuploidiesexpanded NIPTmicrodeletion/microduplication syndromenon‐invasive prenatal testingtrisomytwin pregnancies |
| spellingShingle | Meng Meng Jianping Chen Yingjun Yang Yun Zhang Gang Zou Fenhe Zhou Xing Wei Yuchun Ge Jia Zhou Luming Sun The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort Acta Obstetricia et Gynecologica Scandinavica aneuploidies expanded NIPT microdeletion/microduplication syndrome non‐invasive prenatal testing trisomy twin pregnancies |
| title | The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort |
| title_full | The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort |
| title_fullStr | The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort |
| title_full_unstemmed | The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort |
| title_short | The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort |
| title_sort | efficacy of expanded non invasive prenatal testing nipt in a high risk twin pregnancies cohort |
| topic | aneuploidies expanded NIPT microdeletion/microduplication syndrome non‐invasive prenatal testing trisomy twin pregnancies |
| url | https://doi.org/10.1111/aogs.14958 |
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