Differentially Expressed MicroRNAs in Maternal Plasma for the Noninvasive Prenatal Diagnosis of Down Syndrome (Trisomy 21)
Table 1
Study design and patient characteristics.
Sample
Group
Maternal age years
Week of gestation
Fetal gender
Additional notes
1
Trisomy 21 fetuses
36
12 + 1
Female
increased NT
2
43
13 + 3
Female
NT 5.1
3
35
19 + 0
Female
AV canal
4
37
13 + 3
Male
NT 4.2
5
34
13 + 3
Male
NT 7.5, hem
6
42
13 + 4
Male
NT 6.6
7
44
13 + 6
Female
NT 6.6, Softmarker
Matches to 1
Euploid fetuses
42
13 + 1
Female
—
Matches to 2
41
13 + 0
Female
—
Matches to 3
42
17 + 0
Female
—
Matches to 4
40
13 + 3
Male
—
Matches to 5
31
13 + 3
Male
—
Matches to 6
41
14 + 2
Male
—
Matches to 7
35
13 + 5
Female
—
Next Generation Sequencing was performed on pooled samples in order to identify all miRNAs that could be of importance, whereas samples were subsequently individually investigated by HT-qPCR. Abbreviations: NT: nuchal translucency; AV canal: atrioventricular canal defect; hem: hemolytic plasma.