Table 1 The clinical characteristics of Down syndrome (DS) neonates in this study. In the “no blasts detected” column are the patients who were screened and in whom no blasts were detected using immunophenotyping and morphology, in the “blasts detected” column only those in which blasts were detected and who were classified as TAM.

From: Sensitive GATA1 mutation screening reliably identifies neonates with Down syndrome at risk for myeloid leukemia

 

No blasts detected

Blasts detected

Total number of patients

323

45

Sex (male)

177/323 (55%)

19/36 (53%)

Median pregnancy duration (weeks, range)

38 (31–42)

37.5 (33–40)

Died in the neonatal period

3/108 (2.8%)

6/21 (29%)

First postnatal complete blood count

 Hemoglobin (mmol/L, median, p25–p75)

12.7 (10.7–13.9)

11.0 (9.4–12.4)

 White blood cell count (median, *10 9/L, p25–p75)

15.1 (10.7–21)

20.1 (12.4–37.3)

 Thrombocyte count (median, *10 9/L, p25–p75)

137 (85–201)

121 (40–201)

 Blasts by morphology (%, median, p25–75)

0

10 (4.5–28%)

 Hydrops fetalis

0

3/14 (21%)

 Pleural effusion

2/170 (1.2%)

1/14 (7%)

 Pericardial effusion

2/168 (1.2%)

2/14(14%)

 Ascites

0

3/14 (21%)

 ML DS (during follow-up)

2/323 (0.6%)

6/45 (13%)

 DS ALL (during follow-up)

3/323 (0.9%)

1/45 (2.2%)