Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects

Taiwan J Obstet Gynecol. 2019 Sep;58(5):704-708. doi: 10.1016/j.tjog.2019.07.022.

Abstract

Objective: We present detection of de novo del(18)(q22.2) and a familial 15q13.2-q13.3 microduplication in a fetus with congenital heart defects (CHD).

Case report: A 27-year-old, primigravid woman was referred for genetic counseling because of fetal CHD. Prenatal ultrasound at 17 weeks of gestation revealed pericardial effusion, cardiomegaly and a large ventricular septal defect. The pregnancy was subsequently terminated at 18 weeks of gestation, and a 192-g female fetus was delivered with facial dysmorphism. Cytogenetic analysis of the umbilical cord revealed a karyotype of 46,XX,del(18)(q22.2). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) of the placental tissue revealed a 2.08-Mb 15q13.2-q13.3 microduplication encompassing KLF13 and CHRNA7, and a 10.74-Mb 18q22.2-q23 deletion encompassing NFATC1. The phenotypically normal father carried the same 2.08-Mb 15q13.2-q13.3 microduplication. Polymorphic DNA marker analysis confirmed a paternal origin of the distal 18q deletion.

Conclusion: Prenatal diagnosis of CHD should include a complete genetic study of the embryonic tissues, and the acquired information is useful for genetic counseling.

Keywords: 15q13.2-q13.3 microduplication; KLF13; NFATC1; Ventricular septal defect; del(18)(q22.2).

Publication types

  • Case Reports

MeSH terms

  • Abortion, Induced
  • Adult
  • Chromosome Deletion
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / embryology
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 15 / genetics
  • Chromosomes, Human, Pair 18 / genetics
  • Comparative Genomic Hybridization / methods
  • Cytogenetic Analysis
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Genetic Counseling
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / embryology
  • Heart Defects, Congenital / genetics
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / embryology
  • Intellectual Disability / genetics
  • Karyotyping
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Seizures / diagnosis*
  • Seizures / embryology
  • Seizures / genetics
  • Ultrasonography, Prenatal

Supplementary concepts

  • Chromosome 15q13.3 Microdeletion Syndrome
  • Chromosome 18 deletion syndrome