Table 3 Association between clinical evaluation period and postnatal phenotype severity.

From: When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

Severity of postnatal phenotypea

RASopathy patientsb (n = 39)

Prenatal cohort (n = 14)

Postnatal cohort (n = 25)

p valuec

Mild

11/39 (28%)

3/11 (27%)

8/11 (73%)

0.02

Mild–moderate

5/39 (13%)

0/5 (0%)

5/5 (100%)

Moderate

14/39 (36%)

4/14 (29%)

10/14 (71%)

Severed

9/39 (23%)

7/9 (78%)

2/9 (22%)

  1. aTo assess the severity of the postnatal phenotype in a standardized manner, we used a scoring system inspired by the one developed by Baldassarre et al.14 A first scale was used based on van der Burgt’s criteria:13 one point was assigned to minor criteria and three points to major criteria. A second scale was applied to grade the severity of CHD, if applicable. A third scale determined the severity of the neurodevelopmental disorder, as appropriate. The phenotype was then categorized according to total score as mild, mild–moderate, moderate or severe (see Table S1).
  2. bTerminations of pregnancy or lost to follow-up were excluded from calculation of postnatal phenotype severity (33 patients excluded).
  3. cChi-square statistic or Fisher’s exact test, as appropriate; α error = 0.05.
  4. dIn patients with severe phenotype, 44% were intrauterine fetal demise (IUFD).
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