Prenatal screening

Prenatal screening refers to determining a probability (risk assessment) prior to birth. It is frequently combined with an ultrasound examination.

These non-invasive screening methods include conventional methods (e.g. first trimester screening, ETS), which involve biochemical testing of the maternal blood, and the new NIPT methods (non-invasive prenatal test). These techniques directly analyse the so-called cell-free fetal DNA (cffDNA) in the maternal blood.

Non-invasive prenatal screening can test for the probability of specific chromosome problems in the unborn child such as trisomy 21 or spina bifida, an incomplete closing of the backbone around the spinal cord.

The NIPT tests require a fetal fraction of > 4 % to obtain a reliable result which is why most NIPT screening tests are applicable from gestational week 10 + 0 p.m. The different tests available in the market are similar with regard to their detection rate. The detection rate of trisomy 21 is higher than 99 % (ETS 85 %) with a false positive rate of < 0.1 % compared to 5 % for first trimester screening.

Even though the detection rate and the false positive rate of NIPT tests have advantages over conventional screening, they too have to be considered screening tests.

Hence, a positive result should always be confirmed using a second invasive screening method (chorionic villus sampling or amniocentesis) with subsequent chromosome analysis. The tests can also yield false negative results.

All non-invasive methods of determining the risk of chromosomal aberrations are presently not covered as standard benefits by public health insurance companies.

Depending on the preferences of the pregnant woman, we also offer the conventional methods in addition to the new screening techniques.

First trimester screening

Target group: women who wish to get a result as early as possible
Requirement: accreditation by Fetal Medicine Foundation (FMF)
Parameters: PAPP-A, free ß-hCG, (NT), including risk assessment
Time of screening: week 11+1 – 13+6

Dispatch sample only with completed request form

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Integrated screening

  • Integrated screening with nuchal scan 
    Target group: woman who want the most reliable screening
    Requirement:  at least 100 nuchal scan values by the doctor performing the ultrasound to create an examination-specific reference; no FM certification necessary
    Parameters: PAPP-A, hCG, AFP, uE3, inhibin A, NT
    Time of screening: first test
    PAPP-A: week of pregnancy 10+0 – 13+6, recommended: week 10+0 – 11+6 (nuchal scan can be performed between week 11+0 and 13+6 and provided subsequently);
    Follow-up test: AFP, hCG, uE3, inhibin A: week 14+0 – 17+6
  • Integrated screening without nuchal scan 
    Parameters:  PAPP-A, hCG, AFP, uE3, inhibin A
    Time of screening: first test
    PAPP-A: week 10+0 – 13+6, recommended: week 10+0 – 11+6
    Follow-up test: AFP, hCG, uE3, inhibin A: week 14+0 – 17+6

Dispatch only with completed request form

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Quadruple test

Target group: women without test results from the first trimester
Parameters:  AFP, hCG, uE3, inhibin A
Time of screening: week 14+0 – 17+6

Dispatch only with completed request form

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Triple test

Target group: women without test results from the first trimester
Parameters:  AFP, hCG, uE3
Time of screening: week 14+0 – 17+6

Dispatch only with completed request form

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Sequential screening

  •  Sequential screening I 
    Significance: detailed specification of results from the first trimester screening
    Requirement:  min. 100 nuchal scan values measured by the physician performing the ultrasound to create an examination-specific reference.
    Parameters: AFP, hCG, uE3, inhibin A
    Time of screening: week 14+0 – 17+6
  • Sequential screening II 
    Significance:  after low values from the AFP single test
    Parameters:  hCG, uE3, inhibin A for a low S-AFP value (< 0.5 MoM)
    Time of screening: week 14+0 – 17+6

Dispatch only with completed request form

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Isolated AFP test

Significance:  risk assessment for neural tube defects
Time of screening: week 14+0 – 17+6

Dispatch only with completed request form

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NIPT

Parameters: cffDNA for trisomy 21, 18, 13 and sex chromosomes

Time of screening: week 10 + 0 p.m.

Screening material: special test kits (included in the request form)

Remarks: not applicable for “vanishing twin”

Only send in with completed request form.

For detailed informations please look here

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