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Retrospective analysis of the outcomes of patients presenting for genetic counselling with fetal abnormalitiesTodd, Caryn Jayne 25 February 2009 (has links)
ABSTRACT
Fetal abnormalities are congenital abnormalities that are identified prenatally, which
may be structural or functional in nature. Genetic counselling is a non-directive and
non-judgmental process of information-giving, at the same time as providing
psychosocial support. It is offered to women and their partners who have a fetal
abnormality detected during pregnancy. When a fetal abnormality is detected, the
patient can sometimes be offered a termination of pregnancy, and the decision of
whether or not to continue the pregnancy is made by the patient.
The first aim of this research was to conduct an audit of the genetic counselling
service provided by the Division of Human Genetics, NHLS and WITS, in order to
assess the level of service being offered to patients with diagnosed fetal
abnormalities. The second aim of the research was to determine what factors, if any,
influenced the decision patients made regarding whether to continue or interrupt their
pregnancy.
One hundred and seventy one files of women, who received genetic counselling for
an identified fetal abnormality during pregnancy from the division between 2002 and
2006, were included in the retrospective clinical audit.
The patients seen for genetic counselling represent 1.1 % of the estimated number of
women in Johannesburg who could have had abnormalities detected prenatally,
based on the prevalence of congenital disorders in the area and an ultrasound
prenatal detection rate of 56.2 %. Two thirds of patients who were offered TOP
chose to terminate their pregnancy. The most clinically significant predictor of the
decision to terminate an affected pregnancy was found to be an earlier gestation at
offer of TOP, which suggests that earlier detection and diagnosis of abnormalities is
beneficial to patients. Overall, 62 % of patients were not offered genetic counselling
follow-up appointments after conclusion of their pregnancy. The genetic counselling
service offered to patients thus needs to be improved, in particular, the follow-up
service patients receive after TOP or delivery is not adequate.
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Implementation of clinical exome sequencing in prenatal setting: comparing between prospective and retrospective cohort studiesMarangoni, Martina 09 September 2021 (has links) (PDF)
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/ Doctorat en Sciences biomédicales et pharmaceutiques (Médecine) / info:eu-repo/semantics/nonPublished
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Automatizované měření ultrazvukových markerů vrozených vývojových vad plodu / Automated Measurement of Ultrasound Markers of Congenital Fetal AbnormalitiesSzpyrc, Bogdan January 2010 (has links)
This work deals with displaying and measuring ultrasonic markers of congenital defects of the fetus in first trimester of pregnancy. Background research of ultrasonic markers was based on the studies of prof. Kypros Nicolaides (Great Britain), the president of the Fetal Medicine Foundation. This work contains a brief description of diagnosing of congenital defects during all three trimesters, and lists in detail defects that can be diagnosed properly during first trimester, as well as methods of calculating the risk of chromosomal abnormalities. In the next parts of this work, there are descriptions of methods used to improve results while measuring nuchal translucence (NT) strongest marker of Down syndrome in first trimester. The imaging capabilities of ultrasound devices were tested. Using scanned images, the influence of different display parameters on the resolution could be determined. Furthermore, using recommendations of the FMF, algorithms for adjusting correct slice of fetus and automatic measurement NT were designed and tested. A program application was designed that enabled testing of those algorithms on real images and calculating risks of chromosomal abnormalities from CRL and NT value. Designed algorithms were tested on real images. The program application, in witch the algorithms for measuring NT (NT detection algorithms) are included, was created.
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