31 July 2020
: Case report 
The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants
Rare disease
Ieva Malniece1ABDE*, Adele Grasmane23BDEF, Inna Inashkina4BD, Janis Stavusis4BCE, Madara Kreile13AEF, Edvins Miklasevics5AG, Linda Gailite3DEGDOI: 10.12659/AJCR.922468
Am J Case Rep 2020; 21:e922468
Table 1. USS findings in the first fetus.
| 12+3 weeks | 16th week | 22nd week | 29th week | 33rd week | 35th week | |
|---|---|---|---|---|---|---|
| NT | 12.0 mm | 5.8 mm | 4.6 mm | |||
| PI | 1.8 | |||||
| Cystic hygroma | + | 11×8 mm16×8 mm | 6×3.7 mm5.4×3.6 mm4.9×5.3 mm | |||
| Right kidney pyelectasia | AP=5.6 mm | AP=16.0 mm | AP=26.0 mm | AP=33.0 mm | ||
| Polyhydramnios | AFI=27.1 cm | AFI=32.9 cm | AFI=32.9 cm | |||
| Additional features | CRL=52.4 mm | Hydrothorax (chylothorax) | ||||
| Subcutaneous generalized edema | ||||||
| USS – ultrasound scan; NT – nuchal translucency; PI – ductus venosus pulsatility; AP – anterior-posterior; AFI – amniotic fluid index; CRL – crown-rump length. |