90946 - Prenatal Molecular Diagnosis

Learning outcomes

Gain knowledges of the main tools for managing the general policy of prenatal screening. Describe the molecular and clinical bases for managing the Non Invasive Prenatal Screening (NIPT, ) bases on the isolation of circulating fetal DNA in maternal plasma, including the updates on the topic.

Course contents

Introduction of the meaning of noninvasive and invasive prenatal diagnosis

Clinical and algebraic bases on screening test (1^st trimester combined test)

Noninvasive prenatal testing (NIPT)

Massively parallel sequencing : Counting and SNPs methods. Comparisons among NIPT methods and their optimal applications according to type of pregnancy

QF-PCR in amniotic fluid

Fetal alloimmunizzation and noninvasive diagnosis of fetal RhD by Real Time PCR,

Discussion of clinical cases

Office hours

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