VP16.20: Karyotypic abnormality involving the chromosomes 8 and 15 in a fetus with diaphragmatic hernia
Year: 2021
Type: conference-abstract
Abstract: Diaphragmatic hernia is considered a major severe malformation etiologically associated with several genetic conditions, such as Fryns and Pallister-Killian syndromes. Our aim was to report the diagnosis of diaphragmatic hernia through ultrasound and magnetic resonance imaging (MRI) in a fetus with a chromosome disorder secondary to a maternal translocation. The pregnant woman was a 34-year-old woman. She was referred at 28 weeks of gestation due to a fetal ultrasound with evidence of ventriculomegaly and left diaphragmatic hernia. The examination performed at our institution confirmed these findings. The impression was that the stomach was inside the diaphragmatic hernia. In addition, there seemed to be corpus callosum agenesis. Fetal MRI was consistent with the ultrasound findings and confirmed the presence of corpus callosum agenesis. In addition to the stomach, the intestine was also intrathoracic. Fetal echocardiography showed only one heart deviated to the right. Fetal karyotype evidenced a structural abnormality in what appeared to be one of the 15 chromosomes. The child was born at 37 weeks of pregnancy, weighing 2,675 grams. She did not show any external abnormality or dysmorphism. She evolved with shock, hypoxemia and severe pulmonary hypertension and died within one day of life. The karyotypic evaluation of the mother showed that she had a translocation between chromosomes 8 and 15 [46,XX,t (8;15) (q11.21; q13)]. This result allowed us to define the alteration presented by the child: partial trisomy of chromosome 8 and partial monosomy of chromosome 15 secondary to a translocation of maternal origin [46,XY,+der (8) t (8;15) (q11.21; q13), -15 mat]. In our review, we did not find cases of diaphragmatic hernia associated with this chromosomal alteration. The identification of the balanced chromosomal abnormality in the mother was essential for the correct genetic counseling of the family.
DOI: 10.1002/uog.24288
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W3206589388