Objective To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …

With the discovery of existing circulating cell-free fetal DNA (ccffDNA) in maternal plasma
and the advent of next-generation sequencing (NGS) technology, there is substantial hope …

Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has
become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome …

In the last decades, prenatal screening for aneuploidy has become increasingly effective.
While first trimester combined screening is considered to be the current gold standard, the …

Epigenetic modifications have proven to play a significant role in cancer development, as
well as fetal development. Taking advantage of the knowledge acquired during the last …

Background Non‐invasive prenatal testing (NIPT) for fetal aneuploidies has rapidly been
incorporated into clinical practice. Current NGS‐based methods can reliably detect fetal …

Η πρώτη μου γνωριμία με τη γενετική έγινε κατά την εκπόνηση της διπλωματικής πτυχιακής
εργασίας, υπό την επίβλεψη της Καθηγήτριας Δρ Αντιγόνης Ζαχαροπούλου, στο εργαστήριο …

Over several decades, antenatal screening for Down syndrome evolved steadily, from the
initial concept of a single second-trimester maternal serum marker, to complex protocols …