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New Approaches in Health Sciences

New Methods and Developments in Health Sciences

Edited By Gökhan Aba

New methods, new approaches and advanced technologies have started to be used for patients to gain access to less costly and more quality diagnosis and treatment services in a shorter time. This book, which includes new approaches in health sciences, has been written by successful and expert researchers who work in different health disciplines of health sciences.

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12: New Approaches in Fetal Aneuploidy Scan


Derya Kanza Gül

12:   New Approaches in Fetal Aneuploidy Scan

1 Introduction

Aneuploidy is a chromosomal disease arising from numerical excess or shortage of our euploidic genetic structure with 46 chromosomes. Different clinical pictures vary between abortus, inutero fetal loss, motor-mental retardation and infertility in the early period (Chaveeva et al., 2016). Literature shows that fetal aneuploidy is seen for once every 150 birth. Autosomal trisomies are the most frequent type of fetal aneuploidy (Dashe, 2016). Trisomy 21 (down syndrome) is seen for once every 800 birth; trisomy 18 (Edward syndrome) is seen for once every 6500 birth; and trisomy 13 (Patau syndrome) is seen for once every 12500 birth (Spencer, 2007). Turner syndrome (45, X0) and Klinefelter syndrome (47, XXY) are the most frequent sex chromosomal abnormalities. Almost 30 % of the fetus with trisomy 21, and also 80 % of trisomy 18 and 13 lose their lives in the early intrauterine period (Snijders et al., 1999).

Fetal aneuploidy diagnosis is made by invasive methods such as chorionic villus sampling, amniocenteses, and cordocentesis. Since there is a possibility to face with fetal abortion for once every 500 pregnancies, the preference to take action should be up to the parents (American College of Obstetricians and Gynecologists ACOG, 2016; the international society of ultrasound in obstetrics and gynecology ISUOG, 2016). It is suggested to be applied non-invasive scanning methods before invasive diagnostic tests. The goal is to specify the high-risk group for...

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