Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA.
Taiwan J Obstet Gynecol
; 63(4): 536-539, 2024 Jul.
Article
in En
| MEDLINE
| ID: mdl-39004482
ABSTRACT
OBJECTIVE:
To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations. MATERIALS ANDMETHODS:
Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale. The threshold of maternal deletion was copy numbers (CN) ≤ 1.6, and the threshold of maternal duplication was CN ≥ 2.4.RESULTS:
Of the 5440 pregnant women with successful expanded NIPT results, 28 maternal CNVs ≥2 Mb were detected in 27 pregnant women. Except for five cases reported as test failure, 23 CNVs ≥2 Mb were confirmed among the remaining 22 pregnant women by CNV-seq of maternal lymphocyte DNA. The genomic location, copy numbers and fragment size of maternal CNVs reported by expanded NIPT were consistent with the results of CNV-seq of maternal lymphocyte DNA.CONCLUSIONS:
Maternal CNVs ≥2 Mb can be accurately evaluated according to the CN indicated by expanded NIPT results.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Lymphocytes
/
DNA Copy Number Variations
/
Noninvasive Prenatal Testing
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Taiwan J Obstet Gynecol
Journal subject:
GINECOLOGIA
/
OBSTETRICIA
Year:
2024
Document type:
Article
Affiliation country:
China