1st order laboratory parameters – obligatory laboratory tests.
- Chromosome analysis – this can detect changes in the number as well as the structure of chromosomes (numerical/structural chromosomal aberrations).
- Detection of cell-free DNA (cfDNA test, cell-free DNA test), e.g.:
- NIPT (noninvasive prenatal test; synonyms: Harmony test; Harmony prenatal test).
- PraenaTest
- Note: For trisomy 21, the above tests have a sensitivity (percentage of diseased patients in whom the disease is detected by the application of the procedure, i.e. a positive finding occurs) > 99% and a specificity (probability that actually healthy people who do not suffer from the disease in question are also detected as healthy in the test) of 100%.
- Estrogens [↓] – if streak gonads (dysgenesis (malformation) of the ovaries (ovaries)) are present, the ovaries can not synthesize (produce) any estrogens.
- Gonadotropins – LH, FSH [↑]
Laboratory parameters 2nd order – depending on the results of the medical history, physical examination, etc. – for differential diagnostic clarification.
- Molecular genetic examination of the genes PEX1 and PEX2 on the chromosome [due toDifferential diagnosis Zellweger syndrome (cerebral-hepatic-renal syndrome, cerebro-hepato-renal syndrome) – genetic metabolic disease with autosomal recessive inheritance characterized by the absence of peroxisomes; Syndrome with malformations of the brain, kidneys (multicystic kidney dysplasia), heart (especially ventricular septal defects), and hepatomegaly (liver enlargement); severe cognitive disability]
- Molecular genetic testing of the gene PTPN-11 on chromosome 12 [due toDifferential diagnosis Noonan syndrome – genetic disorder with autosomal recessive or autosomal dominant inheritance similar to the symptoms of Turner syndrome (short stature, pulmonary stenosis or other congenital heart defects; low-set or large ears, ptosis (visible drooping of an upper eyelid), epicanthal fold (“Mongolian fold”), cubitus valgus (abnormal position of the elbow with increased radial deviation of the forearm from the upper arm)]
- Hormonal status:
- 17-Beta estradiol due tohormone replacement therapy to prevent hormone deficiency symptoms or hormone deficiency diseases.
- IGF-I (insulin-like-growth-factor-I) and IGF-BP3 (insulin-like-growth-factor-binding-protein) – due totherapy of short stature.
