Aberracje chromosomowei choroby monogenoweChromosomal aberrationand single gene defects |
18 (42,9%) |
16 |
2 |
10 |
5 |
3 |
2 |
Trisomia 18Trisomy 18 |
7 |
6 |
1 |
4 |
1 |
2 |
1 |
Trisomia 13Trisomy 13 |
4 |
3 |
1 |
1 |
1 |
1 |
1 |
TriploidiaTriploidy |
3 |
3 |
- |
3 |
- |
- |
- |
Trisomia 22Trisomy 22 |
1 |
1 |
- |
1 |
- |
- |
- |
Z. Smitha-Lemliego-Opitza(SLOS)Smith-Lemli-Opitz syndrome(SLOS) |
1 |
1 |
- |
- |
1 |
- |
- |
Dysplazja tanatoforycznaThanatophoric dysplasia |
1 |
1 |
- |
- |
1 |
- |
- |
Złożona aberracja chromosomowaz wielowadziemComplex chromosomalaberration with multidefects |
1 |
1 |
- |
- |
1 |
- |
- |
Wady OUNCNS defects |
8 (19%) |
5 |
3 |
2 |
5 |
1 |
- |
BezmózgowieAnencephaly |
6 |
4 |
2 |
1 |
5 |
- |
- |
WodomózgowieHydroanencephaly |
1 |
- |
1 |
- |
- |
1 |
- |
Masywne wodogłowiei przepuklina oponowo-rdzeniowaSevere hydrocephalus and spina bifida |
1 |
1 |
- |
1 |
- |
- |
- |
Wady nerekKidney defects |
6 (16,3%) |
4 |
2 |
1 |
5 |
- |
- |
Agenezja nerekRenal agenesis |
3 |
3 |
- |
1 |
- |
- |
- |
Uropatia zaporowaUreter obstructive defects |
2 |
- |
2 |
- |
2 |
- |
- |
Wielotorbielowatość nerekBilateral polycystic kidney disease |
1 |
1 |
- |
- |
1 |
- |
- |
Zespoły z wielowadziem,bez określonej przyczynyMultidefects syndromewithout known ethiology |
9 (21,4%) |
8 |
1 |
3 |
5 |
- |
- |
Obrzęk uogólnionyHydrops fetalis |
1 |
1 |
- |
1 |
- |
- |
- |
ŁĄCZNIETOTAL |
42 |
34 |
8 |
16 |
20 |
4 |
2 |
% |
|
|
|
95% |
|