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- Title
Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review.
- Authors
Zhu, Xiaofan; Lam, Doris Yuk Man; Chau, Matthew Hoi Kin; Xue, Shuwen; Dai, Peng; Zhao, Ganye; Cao, Ye; Cheung, Sunny Wai Hung; Kwok, Yvonne Ka Yin; Choy, Kwong Wai; Kong, Xiangdong; Leung, Tak Yeung
- Abstract
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.
- Subjects
TRISOMY; FETAL growth retardation; FETAL growth disorders; PREGNANCY outcomes; LITERATURE reviews
- Publication
Genes, 2021, Vol 12, Issue 1, p11
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes12010011