[Combined first trimester screening and cell-free fetal DNA - “next generation screening”]

Ultraschall Med. 2014 Jun;35(3):229-36. doi: 10.1055/s-0034-1366353. Epub 2014 Apr 24.
[Article in German]


In the last decades, prenatal screening for aneuploidy has become increasingly effective. While first trimester combined screening is considered to be the current gold standard, the use of cell-free fetal DNA (cffDNA), which is also called noninvasive prenatal testing (NIPT), will result in a change of paradigm. Respective studies indicate that in screening for trisomy 21, the detection and false-positive rates are 99 % and 0.1 %, respectively. For trisomies 18 and 13, there is less evidence but recent studies report detection rates of 98 % and 86 %. Despite the excellent results in screening for trisomy 21, NIPT should not be considered as a diagnostic test. Due to the costs of NIPT, it is unlikely that NIPT will be applied in the near future in population-based screening for trisomy. In addition, the scope of the current approach in first trimester screening exceeds the screening for aneuploidy as it is possible to assess the risk for various pregnancy complications. Therefore, a combination of both NIPT and first trimester combined screening seems reasonable. Both examinations could be applied in a contingent model where the latter is offered to everyone and NIPT is restricted to women with an intermediate risk after first trimester combined screening. Such a policy would result in a detection rate of about 97 % for a false-positive rate of about 1 %. While NIPT currently focuses on screening for trisomy 21, 18, 13 and sex chromosomal abnormalities, the scope of NIPT will soon become broader. In this respect, some study groups have managed to examine the whole fetal genome within the course of the pregnancy. However, moral and ethical considerations need to be taken into account.

Publication types

  • Review

MeSH terms

  • Aneuploidy
  • Cell-Free System*
  • Chromosome Aberrations*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 13 / genetics
  • Chromosomes, Human, Pair 18 / genetics
  • DNA / genetics*
  • Down Syndrome / diagnosis
  • Down Syndrome / genetics
  • Female
  • Genetic Testing / methods*
  • Humans
  • Predictive Value of Tests
  • Pregnancy
  • Pregnancy Trimester, First*
  • Prenatal Diagnosis*
  • Trisomy / diagnosis
  • Trisomy / genetics
  • Trisomy 13 Syndrome
  • Trisomy 18 Syndrome


  • DNA