Paternal uniparental disomy for chromosome 14: prenatal management

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 per...

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Bibliographic Details
Published in:	BMJ case reports Vol. 12; no. 12; p. e231705
Main Authors:	Igreja da Silva, Joana Isabel, Ribeiro, Barbara, Cadilhe, Alexandra, Nogueira-Silva, Cristina
Format:	Journal Article
Language:	English
Published:	England BMJ Publishing Group LTD 30-12-2019 BMJ Publishing Group
Series:	Case report
Subjects:	Abdomen Adult Amniocentesis Case reports Chromosomes Chromosomes, Human, Pair 14 Congenital diseases Defects Diagnosis, Differential Dyspnea Family medical history Female Fetuses Health risk assessment Humans Liver Medical prognosis Obstetrics Pregnancy Pregnancy Trimester, First Prenatal Diagnosis Rare Disease Surveillance Thorax Ultrasonic imaging Ultrasonography, Prenatal Uniparental Disomy - diagnosis genetic screening / counselling ultrasonography pregnancy
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