Detection of paternally inherited fetal point mutations for β-thalassemia in maternal plasma using simple fetal DNA enrichment protocol with or without whole genome amplification: an accuracy assessment.

doi:10.3109/14767058.2015.1095883

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Article

Detection of paternally inherited fetal point mutations for β-thalassemia in maternal plasma using simple fetal DNA enrichment protocol with or without whole genome amplification: an accuracy assessment.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Jan 2016

Ramezanzadeh Mahboubeh, Salehi Mansour, Farajzadegan Ziba, Kamali Sara, Salehi Rasoul

Abstract excerpt

OBJECTIVE: To design and evaluate a noninvasive protocol for prenatal diagnosis (PND) of β-thalassemia, using cell free fetal DNA (cff-DNA) in maternal circulation. Traditional current PND which is mainly based on chorionic villous sampling (CVS), amplification refractory mutation system and sequencing holds as gold standard. METHODS: Ten thalassemia trait couples with distinct mutations for the husband and wife...

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PMID: 26553322
DOI: 10.3109/14767058.2015.1095883

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