PT  - JOURNAL ARTICLE
AU  - Joana Isabel Igreja da Silva
AU  - Barbara Ribeiro
AU  - Alexandra Cadilhe
AU  - Cristina Nogueira-Silva
TI  - Paternal uniparental disomy for chromosome 14: prenatal management
AID  - 10.1136/bcr-2019-231705
DP  - 2019 Dec 01
TA  - BMJ Case Reports
PG  - e231705
VI  - 12
IP  - 12
4099  - http://casereports.bmj.com/content/12/12/e231705.short
4100  - http://casereports.bmj.com/content/12/12/e231705.full
SO  - BMJ Case Reports2019 Dec 01; 12
AB  - We present a case of a 34-year-old multiparous woman who had been diagnosed with a 14 weeks’ gestation showing an abdominal wall bulge possibly representing an omphalocele, containing liver and intestinal loops, at her first-trimester ultrasound scan. At 16 weeks’ gestation, an amniocentesis was performed and karyotype analysis revealed a balanced Robertsonian translocation between chromosomes 13 and 14 in a female fetus (45,XX,der(13;14)(q10;q10)). Given this result and ultrasound findings, karyotype and molecular study of the couple were suggested. The results pointed out the absence of maternal contribution to the analysed regions by paternal uniparental disomy for chromosome 14 (isodisomy), which is associated with a severe phenotype. The correlation between ultrasound findings and the genetic study is primordial to guide the diagnostic assessment and to establish the prognosis of the fetal pathology.