Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature

Ultrasound Obstet Gynecol. 2014 Feb;43(2):139-46. doi: 10.1002/uog.12575.


Objective: To establish the prevalence of submicroscopic genetic copy number variants (CNVs) in fetuses with a structural ultrasound anomaly (restricted to one anatomical system) and a normal karyotype. The aim was to determine the diagnostic and prognostic value of genomic array testing in these pregnancies.

Methods: Embase and PubMed databases were systematically searched for all relevant articles on prevalence of pathogenic submicroscopic CNVs in fetuses with ultrasound anomalies. Reported cases were sorted into groups according to anatomical site of the detected ultrasound anomaly. The prevalence of causative submicroscopic CNVs was calculated for each group.

Results: Combined data of the reviewed studies (n = 18) indicated that fetuses with an ultrasound anomaly restricted to one anatomical system (n = 2220) had a 3.1-7.9% chance of carrying a causative submicroscopic CNV, depending on the anatomical system affected. This chance increased to 9.1% for fetuses with multiple ultrasound anomalies (n = 1139).

Conclusion: This review indicates that 3.1-7.9% of fetuses with a structural ultrasound anomaly restricted to one anatomical system and a normal karyotype will show a submicroscopic CNV, which explains its phenotype and provides information for fetal prognosis. Therefore, we conclude that microarray has considerable diagnostic and prognostic value in these pregnancies.

Keywords: isolated ultrasound abnormality; pathogenic submicroscopic CNV; prenatal array.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • DNA Copy Number Variations*
  • Female
  • Fetal Diseases* / diagnostic imaging
  • Fetal Diseases* / genetics
  • Genomics
  • Humans
  • Karyotyping
  • Oligonucleotide Array Sequence Analysis*
  • Pregnancy
  • Prenatal Diagnosis*
  • Prognosis
  • Ultrasonography, Prenatal