Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography

Abstract

We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.

Pre- and Postnatal Analysis of Chromosome 15q26.1 and 8p23.1 Deletions in Congenital Diaphragmatic Hernia

“…In the ring chromosome 15 in this present study, the fetus had CDH and intrauterine growth retardation. Britto et al [2014] and Hatem et al [2007] each reported a case of prenatal diagnosis of CDH and intrauterine growth retardation in a fetus with ring chromosome 15 similar to our study. Klaassens et al [2007] reported 2 patients with a deletion of 15q26 and the phenotype consists of intrauterine growth retardation, left-sided CDH, cardiac anomalies, and characteristic facial features, similar to those seen in Fryns syndrome.…”

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

“…Jacobsen and coworkers were the first to describe the ring chromosome 15 syndrome and since then, about 40 cases have been reported in literature. Among these, only four cases were diagnosed prenatally ( 61 ). A ring chromosome origins from a breakage in both the arms of the chromosome and a fusion of the breakpoints, with consequent loss of the distal fragments.…”

“…These findings are in line with those of the latest clinical reports. In addition, congenital diaphragmatic hernia (CDH) is another clinical feature described in these patients ( 7 , 61 , 67 , 68 ).…”

The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review

“…Among the five cases diagnosed prenatally, r (15) syndrome was founded in four fetuses with the intrauterine growth restriction (IUGR) from ultrasound exam (Glass et al, 2006; F I G U R E 2 G banding of chromosomes revealed a ring chromosome 15, karyotype (46,XX,r (15) [20]) Hatem et al, 2007;Liu, Chang, & Chen, 2001;Manolakos et al, 2009). Three-dimensional ultrasound in the rendering mode was also important in the assessment of facial deformations in fetus (low-set ears and depressed nasal bridge) (Britto et al, 2014). Due to the limited number of reported r (15) syndrome cases, and most of them were occurred before puberty, it was very difficult to assess the reproductive ability of subjects affected by ring chromosomes.…”

“…Unusual mosaicism with r ( 15) and 15qs+ and a r ( 15) plus an additional small supernumerary marker chromosome 15 [sSMC( 15)] were also reported (Smith et al, 1991;Szabó et al, 2018). The ring chromosomes have been reported in multiple tissues and have been seen prenatally in both amniocytes and chorionic villous samples (Manolakos et al, 2009), as well as in post-natal blood, lymphocytes, bone marrow, and skin (Britto et al, 2014;Smith et al, 1991).…”