Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results

J Matern Fetal Neonatal Med. 2021 Jul;34(13):2180-2184. doi: 10.1080/14767058.2019.1660764. Epub 2019 Sep 4.


Objective: Only a small number of reports have been made on the prenatal ultrasound findings observed in 1p36 deletion syndrome. We explored prenatal diagnosis of 1p36 deletion by ultrasound as well as chromosomal microarray (CMA), and delineated the fetal presentation of this syndrome.

Study design: This was a retrospective analysis of 10 new prenatal cases of 1p36 deletion identified by CMA at a single Chinese medical center. Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes.

Results: One case was diagnosed because of a positive cell-free DNA (cfDNA) testing result for terminal 1p deletion, and the remaining nine cases were identified because of an abnormal ultrasound findings, including early miscarriage, structural abnormalities and fetal growth restriction. CMA revealed 1p36 deletions to be terminal in six cases, and interstitial in four cases. Deletion sizes ranged from 1.7 to 42.7 Mb.

Conclusions: Prenatal findings such as cardiac malformations, especially Ebstein anomaly, and fetal growth retardation should warrant the diagnosis of 1p36 deletion and invasive genetic testing using CMA.

Keywords: ultrasound; 1p36 deletion syndrome; chromosomal microarray; prenatal diagnosis.

MeSH terms

  • Chromosome Deletion
  • Chromosome Disorders* / diagnostic imaging
  • Chromosome Disorders* / genetics
  • Chromosomes, Human, Pair 1
  • Female
  • Humans
  • Microarray Analysis
  • Pregnancy
  • Prenatal Diagnosis
  • Retrospective Studies

Supplementary concepts

  • Chromosome 1p36 Deletion Syndrome