| Initials |
Age at assessment (months) |
Full term birth |
Birth weight 10th-90th percentiles |
Weight at assessment 3rd-97th percentiles |
Height at assessment 3rd-97th percentiles |
Delayed milestones |
≥3 dysmorphic features |
Congenital malformations |
Karyotype |
NT ≥3 mm |
Changes in serum markers* |
Further diagnostics |
| S.S |
21 |
Post term |
+ |
+ |
+ |
|
|
|
|
|
1 |
|
| G.V |
24 |
+ |
+ |
>97 |
>97 |
+ |
|
|
46,XY |
|
2 |
|
| EG.N |
17 |
Post term |
+ |
+ |
+ |
|
|
|
46,XX |
|
1 |
|
| J.J |
25 |
+ |
+ |
+ |
+ |
|
|
|
|
|
1 |
|
| KH.L |
18 |
+ |
+ |
+ |
+ |
|
|
|
|
|
2 |
|
| T.S |
22 |
+ |
+ |
+ |
+ |
+ |
|
|
|
|
1 |
|
| A.A |
21 |
+ |
+ |
+ |
+ |
|
+ |
|
|
|
1 |
|
| LL.H |
28 |
+ |
+ |
<3 |
+ |
|
|
|
46,XX |
|
1 |
|
| M.R |
31 |
Preterm |
+ |
+ |
+ |
|
|
|
|
|
2 |
|
| R.R |
26 |
+ |
SGA |
+ |
+ |
|
|
|
46,XY |
|
1 |
|
| M.L |
23 |
+ |
+ |
+ |
+ |
|
|
|
|
|
2 |
|
| A.T |
27 |
+ |
+ |
+ |
+ |
|
|
|
|
|
1 |
|
| ML.P |
23 |
+ |
+ |
+ |
+ |
|
|
|
46,XX |
|
1 |
|
| M.K |
26 |
+ |
+ |
+ |
+ |
|
+ |
|
|
|
1 |
|
| R.T |
30 |
+ |
+ |
+ |
|
|
+ |
|
46,XY |
|
1 |
|
| L.A |
20 |
+ |
SGA |
+ |
+ |
|
|
|
|
|
1 |
|
| R.V |
24 |
+ |
+ |
+ |
+ |
|
|
|
46,XY |
|
1 |
|
| K.H |
20 |
Preterm |
SGA |
<3 |
+ |
+ |
+ |
ASD |
46,XX |
|
2 |
+ |
| M.H |
24 |
+ |
+ |
+ |
+ |
|
|
|
46,XX |
+ |
|
|
| E.M |
23 |
+ |
SGA |
+ |
+ |
|
+ |
|
46,XX |
|
1 |
|
| K.T |
26 |
+ |
+ |
+ |
+ |
|
+ |
|
|
|
2 |
+ |
| T.T |
20 |
+ |
+ |
+ |
+ |
|
|
|
|
|
1 |
|
| M.S |
21 |
+ |
+ |
+ |
+ |
|
|
|
46,XX |
|
1 |
|
| HM.A |
19 |
+ |
+ |
+ |
+ |
|
|
|
46,XX |
+ |
|
|
| E.J |
26 |
+ |
+ |
+ |
+ |
|
|
|
46,XX |
|
1 |
|
| M.K |
20 |
Post term |
+ |
+ |
+ |
|
|
|
46,XY |
|
1 |
|
| J.A |
21 |
Post term |
+ |
+ |
+ |
|
|
|
46,XY |
|
1 |
|
| K. |
28 |
Preterm |
+ |
+ |
+ |
|
+ |
|
|
+ |
|
|
| E.S |
33 |
+ |
+ |
+ |
+ |
|
+ |
|
46,XX |
+ |
|
+ |
| MM.K |
22 |
+ |
SGA |
+ |
+ |
+ |
+ |
VSD, PDA |
46,XX |
|
1 |
+ |
| K.V |
23 |
+ |
+ |
+ |
+ |
|
+ |
|
46,XX |
|
1 |
+ |
| S.O |
20 |
+ |
LGA |
+ |
+ |
|
+ |
|
46,XY |
+ |
|
+ |
| R.K |
21 |
+ |
+ |
+ |
+ |
|
|
|
|
|
1 |
+ |
| M.M |
|
+ |
+ |
|
|
|
|
CAH |
46,XY |
|
1 |
+ |
| AK.K |
|
Preterm |
SGA |
|
|
+ |
+ |
SRS |
46,XX |
|
3 |
|
SGA=Small for Gestational Age; LGA=Large for Gestational Age
ASD=Atrial Septal Defect; VSD=Ventricular Septal Defect; PDA= Patent Ductus Arteriousus; CAH=Congenital Adrenal Hyperplasia; SRS=Silver-Russell syndrome
* previously described changes in first and second trimester screening, number indicating how many markers were affected |