Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea
Journal of Genetic Medicine
;
: 85-91, 2015.
Article
in English
| WPRIM
| ID: wpr-195766
ABSTRACT
PURPOSE:
Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing of fetal chromosomal aneuploidies. Here, we report the initial clinical performance of NIPT in Korean pregnant women. MATERIALS ANDMETHODS:
MPS-based NIPT was performed on 910 cases; 5 mL blood samples were collected and sequenced in the Shenzhen BGI Genomic Laboratory to identify aneuploidies. The risk of fetal aneuploidy was determined by L-score and t-score, and classified as high or low. The NIPT results were validated by karyotyping for the high-risk cases and neonatal follow-up for low-risk cases.RESULTS:
NIPT was mainly requested for two clinical indications abnormal biochemical serum-screening result (54.3%) and advanced maternal age (31.4%). Among 494 cases with abnormal biochemical serum-screening results, NIPT detected only 9 (1.8%) high-risk cases. Sixteen cases (1.8%) of 910 had a high risk for aneuploidy 8 for trisomy 21, 2 for trisomy 18, 1 for trisomy 13, and 5 for sex chromosome abnormalities. Amniocentesis was performed for 7 of these cases (43.8%). In the karyotyping and neonatal data, no false positive or negative results were observed in our study.CONCLUSION:
MPS-based NIPT detects fetal chromosomal aneuploidies with high accuracy. Introduction of NIPT as into clinical settings could prevent about 98% of unnecessary invasive diagnostic procedures.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Plasma
/
Prenatal Diagnosis
/
Sex Chromosome Aberrations
/
Trisomy
/
DNA
/
Follow-Up Studies
/
Maternal Age
/
Down Syndrome
/
Pregnant Women
/
High-Throughput Nucleotide Sequencing
Type of study:
Diagnostic study
/
Observational study
/
Prognostic study
/
Risk factors
Limits:
Female
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2015
Type:
Article
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