Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution

Obstet Gynecol. 2014 May;123(5):1097-1099. doi: 10.1097/AOG.0000000000000237.


The identification of circulating cell-free fetal DNA in maternal plasma has led to the introduction of noninvasive prenatal tests with high sensitivity and high specificity for common aneuploidies (trisomy 13, trisomy 18, trisomy 21). A new expanded noninvasive prenatal testing panel that includes five microdeletion syndromes (22q11 deletion syndrome, cri-du-chat [5p minus], Prader Willi or Angelman syndrome, 1p36 deletion syndrome) and two aneuploidies usually associated with nonviable pregnancies (trisomy 16 and trisomy 22) is now available. This expanded panel will be performed unless an opt-out box is checked. Because these disorders are so rare, the positive predictive value is expected to be low. As with all new screening tests and technologies, the expanded panel should be appropriately studied before it is widely adopted.

MeSH terms

  • Angelman Syndrome / diagnosis
  • Chromosome Deletion
  • Chromosome Disorders / diagnosis
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 22
  • Cri-du-Chat Syndrome / diagnosis
  • DNA / blood*
  • Female
  • Fetal Diseases / blood
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics*
  • Humans
  • Mosaicism
  • Prader-Willi Syndrome / diagnosis
  • Pregnancy
  • Prenatal Diagnosis*
  • Sensitivity and Specificity
  • Trisomy / diagnosis


  • DNA

Supplementary concepts

  • Chromosome 16, trisomy
  • Chromosome 1p36 Deletion Syndrome
  • Chromosome 22, microdeletion 22 q11
  • Chromosome 22, trisomy