IllnessPrenatally abnormal fetus - rare syndrome?

Summary

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.

PP1000

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

Material

Amniotic fluid (after amnocentesis)
Chorionic villus
Umbilical cord blood

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
TecExom	999999	No OMIM-Gs linked	K-a

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.

Synonyms

Alias: Rare fetal syndrome?
Alias: Unusual fetal ultrasound findings

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

O28.3

Bioinformatics and clinical interpretation

No text defined