Kai Muru "Prenatal screening strategies, long term outcome of children with marked changes in maternal screening tests and the most common syndromic heart anomalies in Estonia"

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View all other units

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Date:

12.06.2014 - 15:00 to 17:00

Thesis supervisors:
Professor Katrin Õunap, University of Tartu
Associate Professor Tiia Reimand, University of Tartu

Opponent:
Associate Professor Vedran Stefanovic, Helsinki University Central Hospital, Finland

Summary:
Prenatal screening (PS) aims to identify pregnancies at increased risk for chromosomal disorders. Significant changes in screening markers may also give insight into adverse pregnancy outcomes, or disease of fetus. Congenital heart defect (CHD) is the most common birth defect, affecting 3-13/1000 of live born infants. Majority of CHD are isolated congenital defects, but in 1- 4.6% cases CHD is one feature of genetic syndrome.

The aims of the present study were to establish the first trimester screening for Down syndrome in Estonia, to evaluate the potential of a contingent screening in our population of pregnant women; to investigate whether chromosomally normal fetuses with marked changes in maternal screening markers have an increased risk of congenital or genetic anomalies or delayed development at 2 years of age and to characterize rare monogenic genetic syndromes with CHD.

From 2006, two step contingent screening was introduced in Estonia. This protocol reduced considerably second-trimester sampling with positive impact (high detection rate -88.3%) on overall screening performance. The high-risk group of pregnant women achieved an earlier diagnosis and the low-risk group of pregnant women received earlier reassurance of normal results.

Children born to mothers with marked changes in screening markers and positive risk calculation for chromosomal anomaly should be followed by a pediatrician for additional consultation after birth, as they have a risk of 5.4% of having a congenital or genetic abnormality.

Most prevalent genetic syndrome with CHD was Noonan syndrome. The disease causing mutation in the PTPN11 gene was found in 28% of clinical cases, which confirm heterogeneity of Noonan syndrome and further investigations should be continued in subgroup of patients with classical features of syndrome. In study group also others genetic syndromes were diagnosed (e.g. LEOPARD and Holt-Oram syndrome). This study confirmed the importance to determine whether there is an underlying genetic pattern, because there may be involvement of some other organ system and it may be prognostic information for clinical outcome. Also there may be other family members for whom genetic testing is appropriate and it gives the recurrent risk for the family.

Location:

Prof A. Linkberg Lecture Theatre (Puusepa 8)

URL:

hdl.handle.net/10062/40572

Event category:

Defence

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7 The inaugural lecture by Gholamreza Anbarjafari, UT Professor of of Computer Vision The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	8 The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	9 Kadi Luht-Kallas „Risk-taking behaviour: Relationship with personality and markers of heritability, and an intervention to prevent unintentional injury“ The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	10 Larisa Ivanova “Design of active compounds against neurodegenerative diseases” The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	11 The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	12 The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	13 The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral
14 The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	15 Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	16 Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	17 Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	18 Sten Saar "Epidemiology of severe injuries in Estonia" Kadi Tilk „Signals and responses of ColRS two-component system in Pseudomonas putida“ Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	19 Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	20 Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral
21 Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	22 Ilya Kuzovkin „Understanding Information Processing in Human Brain by Interpreting Machine Learning Models“ Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	23 Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	24 UT Memorial Day Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	25 Orlenys López Pintado “Collaborative Business Process Execution on the Blockchain: The Caterpillar System“ Mari Urb "DNA methylation in the predisposition, expression and abstinence of cocaine addiction" Researchers' Night Festival: Toome science-themed adventure town special Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	26 Researchers' Night Festival and Day of Countryside Living at Tartu Observatory Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	27 Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral
28 Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	29 Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral	30 Concert: smooth harmonies Matti Vainio's exhibition "Findings \| Leiud" The Exhibition "The enchanting art of stone cutting. Morgenstern 250" Estonia's National University 100: Photo exhibition “Put on Your Thinking Cap! The Hundred Faces of the University of Tartu” Aarne Maasik’s Photos of Tartu Cathedral

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Kai Muru "Prenatal screening strategies, long term outcome of children with marked changes in maternal screening tests and the most common syndromic heart anomalies in Estonia"

September