Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following combined first-trimester screening

Prenat Diagn. 2020 Jun;40(7):852-859. doi: 10.1002/pd.5698. Epub 2020 Apr 20.


Objectives: To determine the detection rates of all types of chromosome aberrations and the residual risk for postnatal diagnosis of an atypical chromosome aberration depending on the strategy for further investigation with either noninvasive prenatal testing (NIPT) or invasive testing in pregnancies with increased risk following combined first-trimester screening (cFTS).

Methods: A review of all pregnancies examined with cFTS during 2010 to 2017.

Results: The cohort consisted of 129 493 pregnancies. There were 852 (0.7%) clinically significant chromosome aberrations, including aberrations detected later on or after birth. A total of 12% were atypical chromosome aberrations. Considering that 40% were detected due to a miscarriage/intrauterine fetal death or a malformation on ultrasound there is a 0.05% (1:2000) background risk of a postnatal diagnosis of a liveborn child with an atypical chromosome aberration if no further invasive test is performed during pregnancy. If all women with an increased risk (≥1:200) had an invasive test and NIPT was performed up to a risk of 1:1000, 95% of common trisomies/sex chromosome aberrations and 55% of atypical aberrations would be detected.

Conclusions: If NIPT was offered to all women with an increased risk following cFTS it would imply that three times as many children would be born with an atypical chromosome aberration.

Publication types

  • Historical Article

MeSH terms

  • Adult
  • Chromosome Aberrations / statistics & numerical data*
  • Cohort Studies
  • Delayed Diagnosis / statistics & numerical data
  • Female
  • History, 21st Century
  • Humans
  • Infant, Newborn
  • Maternal Serum Screening Tests / methods
  • Maternal Serum Screening Tests / statistics & numerical data
  • Neonatal Screening*
  • Nuchal Translucency Measurement
  • Pregnancy
  • Pregnancy Trimester, First* / blood
  • Pregnancy Trimester, First* / genetics
  • Prenatal Diagnosis / methods
  • Prenatal Diagnosis / statistics & numerical data*
  • Risk Assessment
  • Trisomy / diagnosis
  • Trisomy / genetics
  • Ultrasonography, Prenatal