Table 2 Diagnostic yield of prenatal ultrasound findings for RASopathies.

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

Prenatal findings	Diagnostic yield based on indications for testing	p value^a	Diagnostic yield based on prenatal US findings	p value^a
Prenatal findings	n = 352 (50 positive cases)	p value^a	n = 312 (47 positive cases)	p value^a
Overall diagnostic yield	14% (50/352)	–	15% (47/312)	–
Increased NT	11% (28/257)	0.4	13% (29/230)	0.6
NT > 3 < 3.5	0% (0/19)	0.4	0% (0/21)	0.6
NT ≥ 3.5	9% (15/173)	0.02	12% (17/144)	0.1
NT > 6	20% (13/65)	0.02	20% (12/60)	0.1
Alone	1% (1/90)	0.0001	0% (0/49)	NA
In association^b	16% (27/167)	0.0001	16% (29/181)	NA
Increased NT without CH	4% (5/112)	0.04	8% (7/86)	0.09
Cystic hygroma	15% (29/188)	0.7	16% (30/182)	0.9
1st trimester CH	NA	NA	7% (4/58)	0.03
Persistent^c CH	NA	NA	21% (26/124)	0.03
Isolated^d	8% (10/120)	0.001	5% (4/88)	0.0001
In association^b	28% (19/68)	0.001	28% (26/94)	0.0001
CH without ↑ NT	23% (9/39)	0.2	26% (9/34)	0.1
CH with ↑ NT	13% (20/149)	0.2	14% (21/148)	0.1
NT > 3 < 3.5	NA	NA	0% (0/17)	0.06
NT ≥ 3.5	NA		11% (10/88)
NT > 6	NA		26% (11/43)
Increased NF^e	24% (12/49)	0.06	25% (17/67)	0.03
NF > 6	20% (9/44)	0.1	23% (14/62)	0.1
NF > 15	60% (3/5)	0.1	60% (3/5)	0.1
Lymphatic anomalies	NA	NA	26% (9/34)	0.1
Hydrops^e	35% (17/48)	0.0001	33% (20/60)	0.0003
1st trimester hydrops	NA	NA	14% (2/14)	0.1
Persistent^c hydrops	NA	NA	39% (18/46)	0.1
Thoracic effusions or ascites	30% (12/40)	0.01	41% (22/54)	<0.0001
Congenital heart disease	23% (12/53)	0.1	25% (18/71)	0.03
Cardiac defect	23% (11/48)	0.002	23% (15/64)	<0.0001
HCM	60% (6/10)		69% (9/13)
Combined HCM + CD	100% (5/5)		100% (6/6)
Other associated findings^b,f
Polyhydramnios	50% (8/16)	NA	39% (14/36)	<0.0001
Renal anomaly	29% (4/14)	NA	30% (14/46)	0.01
Macrosomia	57% (4/7)	NA	50% (6/12)	NA
Mild ventriculomegaly	-	NA	54% (7/13)	NA
Short long bones	-	NA	41% (7/17)	NA
General findings
Only one US finding	9% (13/142)	0,04	3% (2/61)	0.03
Two or more US findings^g	18% (37/210)	0,04	18% (45/251)	0.03

Diagnostic yield of each major US finding was compared with the global diagnostic yield for p value calculation.
CD cardiac defect (pulmonary valve dysplasia or stenosis, septal defect, aortic anomalies, tetralogy of Fallot, etc.), CH cystic hygroma, HCM hypertrophic cardiomyopathy, NA not applicable, NF nuchal fold, NT nuchal translucency, US ultrasound.
^aChi-square statistic or Fisher’s exact test, as appropriate; α error = 0.05.
^bOnly suggestive US findings of RASopathies as described in the literature were considered as associated findings.
^cCystic hygroma or hydrops present at 2nd trimester ultrasound and more (>15 gestational weeks for CH and >14 weeks for hydrops).
^dWithout another US finding, except increased NT.
^eIncreased NF and hydrops fetalis were always combined with another suggestive US finding, mostly any lymphatic dysplasia.
^fThe most frequently associated feature was any lymphatic dysplasia.
^gSee text for the combinations of US findings with the highest yields.

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Table 2 Diagnostic yield of prenatal ultrasound findings for RASopathies.

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