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Article

Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review

1
Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
2
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China
3
NIPT Department, NGS Lab, Xcelom Limited, Hong Kong, China
4
Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen 518100, China
5
The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong, China
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Genes 2021, 12(1), 11; https://doi.org/10.3390/genes12010011
Received: 13 November 2020 / Revised: 9 December 2020 / Accepted: 21 December 2020 / Published: 24 December 2020
(This article belongs to the Special Issue Advances in Prenatal Genetic Screening and Diagnosis Technologies)
Trisomy 7 is the most frequently observed type of rare autosomal trisomies in genome-wide non-invasive prenatal screening (NIPS). Currently, the clinical significance of trisomy 7 NIPS-positive results is still unknown. We reviewed two independent cohorts from two laboratories where similar NIPS metrics were applied. A total of 70,441 singleton cases who underwent genome-wide NIPS were analyzed, among which 39 pregnancies were positive for trisomy 7, yielding a screen-positive rate of 0.055% (39/70,441). There were 28 cases with invasive testing results available; the positive predictive value (PPV) was 3.6% (1/28). We then searched the published NIPS studies to generate a large cohort of 437,873 pregnancies and identified 247 cases (0.056%) that were screened positive for trisomy 7. The overall PPV was 3.4% (4/118) in the combined data. The presence of uniparental disomy 7 was not detected in the NIPS trisomy 7-positive pregnancies with normal fetal karyotype. Among the 85 cases with pregnancy outcome available in combined data, 88.2% were normal live births, 14.1% had intrauterine growth restriction, preterm birth or low birth weight, 3.5% presented with ultrasound abnormality, and no fetal loss was observed. Our data provide valuable information for counseling and management of trisomy 7-positive NIPS pregnancies. View Full-Text
Keywords: non-invasive prenatal screening; cell-free DNA screening; cell-free fetal DNA; trisomy 7; uniparental disomy 7 non-invasive prenatal screening; cell-free DNA screening; cell-free fetal DNA; trisomy 7; uniparental disomy 7
MDPI and ACS Style

Zhu, X.; Lam, D.Y.M.; Chau, M.H.K.; Xue, S.; Dai, P.; Zhao, G.; Cao, Y.; Cheung, S.W.H.; Kwok, Y.K.Y.; Choy, K.W.; Kong, X.; Leung, T.Y. Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review. Genes 2021, 12, 11. https://doi.org/10.3390/genes12010011

AMA Style

Zhu X, Lam DYM, Chau MHK, Xue S, Dai P, Zhao G, Cao Y, Cheung SWH, Kwok YKY, Choy KW, Kong X, Leung TY. Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review. Genes. 2021; 12(1):11. https://doi.org/10.3390/genes12010011

Chicago/Turabian Style

Zhu, Xiaofan, Doris Y.M. Lam, Matthew H.K. Chau, Shuwen Xue, Peng Dai, Ganye Zhao, Ye Cao, Sunny W.H. Cheung, Yvonne K.Y. Kwok, Kwong W. Choy, Xiangdong Kong, and Tak Y. Leung 2021. "Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review" Genes 12, no. 1: 11. https://doi.org/10.3390/genes12010011

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