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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPrenatally abnormal nuchal transparency, differential diagnosis


Short information

A comprehensive panel of 59 guideline-curated and altogether nearly 950 curated genes, that cover virtually all genetic causes of abnormal nuchal transparency measurements reported so far.

Number of genes
1 Accredited laboratory test
Examined sequence length
1.000,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
auf Anfrage
  • Amniotic fluid (after amnocentesis)
  • Chorionic villus
  • Umbilical cord blood
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
  • No OMIM-Gs linked

Informations about the disease

Clinical Comment

According to the Fetal Medicine Foundation, increased nuchal translucency (NT; >95th percentile based on crown-rump length) is found in 5% of fetuses. The incidence of chromosomal abnormalities increases exponentially with NT thickness. However, fetuses with increased NT are not only associated with a higher incidence of aneuploidy, fetal death and malformations, but also >150 genetic syndromes can cause thickened nuchal folds. After initial exclusion of chromosomal aneuploidy and large copy number variations, the few unselected, large-scale studies found >8-20% abnormal sequence variations in affected fetal DNAs compared with parental DNAs (included variants "VUS3" [of unknown significance] at the upper limit of the range span). Therefore, a negative result does not represent any exclusion of the clinical diagnosis.

Reference: https://pubmed.ncbi.nlm.nih.gov/30712880/


  • Alias: (Generalised) fetal edema
  • Alias: Fetal hydrops + ansarca
  • Alias: Hydrops fetalis, non immune
  • Alias: Nuchal hygroma
  • Alias: Prenatally unusually thick nuchal transparency
  • Allelic: Hemangioma, capillary infantile, somatic (FLT4)
  • Cardiofaciocutaneous syndrome (BRAF)
  • Cardiofaciocutaneous syndrome 2 (KRAS)
  • Cardiofaciocutaneous syndrome 3 (MAP2K1)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Congenital heart defects, multiple types, 7 (FLT4)
  • Costello syndrome (HRAS)
  • Fabry disease (GLA)
  • Farber lipogranulomatosis (ASAH1)
  • GM1-gangliosidosis, type I, II, III (GLB1)
  • Galactosialidosis (CTSA)
  • Gaucher disease, perinatal lethal + Gaucher disease, type I, II, III, IIIC (GBA)
  • Glycogen storage disease IV (GBE)
  • Hennekam lymphangiectasia-lymphedema syndrome 1 (CCBE1)
  • Hydrops fetalis, cystic hygroma, hydropic placenta [panelapp] (NMNAT2)
  • Immunodysregulation, polyendocrinopathy, enteropathy, XL (FOXP3)
  • Lymphatic malformation 1 (FLT4)
  • Lymphedema-distichiasis syndrome (FOXC2)
  • Mucolipidosis II alpha/beta + III alpha/beta (GNPTAB)
  • Mucopolysaccharidosis IVA (GALNS)
  • Mucopolysaccharidosis VII (GUSB)
  • Mucopolysaccharidosis type IVB [Morquio] (GLB1)
  • Nephrotic syndrome, type 14 (SGPL1)
  • Noonan syndrome 2 + 10 (LZTR)
  • Noonan syndrome 3 (KRAS)
  • Noonan syndrome 7 (BRAF)
  • Noonan syndrome-like disorder (CBL)
  • Sialidosis, type I + II (NEU1)
  • Wolman disease (LIPA)
Heredity, heredity patterns etc.
  • K-a
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined