Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy.
J Clin Lab Anal
; 34(2): e23046, 2020 Feb.
Article
in En
| MEDLINE
| ID: mdl-31556165
ABSTRACT
OBJECTIVE:
To develop a technique for non-invasive prenatal diagnosis of spinal muscular atrophy and validate its performance. STUDYDESIGN:
Pregnant women with 1 copy of SMN1 and male fetuses were enrolled. Seventeen women were included in test set A, and 10 of them were selected into test set B randomly and blinded. The two sets were tested independently by two different researchers blinded to fetal genotypes. Fetal DNA fractions were calculated based on the relative proportion of mapped chromosome Y sequencing reads. An algorithm was developed to decide fetal SMN1 copy numbers.RESULTS:
The concordance rate with the results of MLPA testing of amniocyte DNA was 94.12% in test set A and 90% in set B. For all tests with a classifiable result, the percent of agreement with the results of MLPA testing of amniocyte DNA was up to 100% (25/25).CONCLUSION:
We have developed a direct, rapid, and low-cost technique, which has a potential to be utilized for first-trimester non-invasive prenatal diagnosis and screening for spinal muscular atrophy with considerable reliability and feasibility.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Muscular Atrophy, Spinal
/
Survival of Motor Neuron 1 Protein
/
Noninvasive Prenatal Testing
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Male
/
Pregnancy
Language:
En
Journal:
J Clin Lab Anal
Journal subject:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Year:
2020
Document type:
Article
Affiliation country:
China