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

IllnessPrenatally abnormal fetus - rare syndrome?


Short information

The very large differential diagnostic panel comprises 8 guideline-curated genes as well as 1000 genes or more [the mutations of which can cause aberrant morphology and rare syndromes] according to the clinical signs and the HPO terms supplied, respectively.

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

While most pregnancies progress normally without serious complications, sometimes rare complications interfere with normal fetal development: genetic disorders, problems with the fetal chromosomes, abnormal placental development. Ultrasound screening in 2. trimester is part of many maternal healthcare programs. Main reasons for routine ultrasound refers to gestational age, number of viable fetuses, checking the placenta. Currently, screening for fetal malformations using checklists has become an important part of the examination. Prenatal detection of fetal abnormalities ranges from 17 to 85% depending on the experience of the center.


  • Alias: Rare fetal syndrome?
  • Alias: Unusual fetal ultrasound findings
Heredity, heredity patterns etc.
  • K-a
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined