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 amniocentes...

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Bibliographic Details
Main Author: Silva, Joana Isabel Igreja da (author)
Other Authors: Ribeiro, Barbara (author), Cadilhe, Alexandra (author), Silva, Cristina Isabel Nogueira (author)
Format: article
Language:eng
Published: 2019
Subjects:
Adult
Amniocentesis
Diagnosis, Differential
Female
Humans
Pregnancy
Pregnancy Trimester, First
Ultrasonography, Prenatal
Uniparental Disomy
Chromosomes, Human, Pair 14
Prenatal Diagnosis
genetic screening / counselling
ultrasonography
genetic screening
counselling
Science & Technology
Online Access:http://hdl.handle.net/1822/67226
Country:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/67226

Internet

http://hdl.handle.net/1822/67226

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