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[Case Report] Targeted enrichment sequencing in two midterm pregnancies with severe abnormalities on ultrasound

A 29-year-old woman, with a history of medically justified termination for severe fetal anomalies at 23 weeks’ gestation in 2014 and a miscarriage at 9 weeks’ gestation in 2015, presented to our obstetric department in April, 2016, at 20 weeks’ gestation. Ultrasonography showed several fetal anomalies including polyhydramnios, nuchal and general oedema, hepatomegaly, and general growth restriction. The patient and her partner had no similarly affected relatives and no history of consanguinity. After discussion with the gynaecologist, human geneticist, and a specialist medical psychologist from the department of obstetrics and gynaecology, and patient counselling, the pregnancy was terminated at 23 weeks because of the fatal prognosis.

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