Preface

Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound.

Working in the prenatal diagnosis field requires dedication, patience, skills, experience, cau‐ tion, and empathy.

The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal.

We have witnessed the paramount effort to commute, adjoining to the screening for chro‐ mosomal abnormalities—all major structural defects diagnosed earlier from the second-tri‐ mester scan to the late first-trimester scan. Sometimes, minute structural defects can betray major functional damage or may trigger a comprehensive genetic workup. Such achieve‐ ments were unthinkable until recently. The most important aim of prenatal ultrasonography remained to reassure the parents as early as possible that fetal development is within the normal ranges. At times, if a malformation is detected, it is necessary to counsel the patient about the nature and the natural history of the respective condition. Most anomalies devel‐ op early, and we now have the tools to detect these as early as 10–16 weeks.

Still, all operators must acknowledge the dynamics of the prenatal life and maintain the alertness in scanning all the three trimesters, regardless of the normalcy of the previous da‐ ta, in each case.

This book is structured in three sections.

The **first** section, the largest one, is dedicated to fetal structural anomalies.

The first chapter is a run-through of the most significant anomalies that can be detected in the antenatal life, which is divided into fetal systems. The second chapter, committed to so‐ noembryology, contains images from one of the largest collections of human embryos. It covers the embryonic normal development and growth and includes the embryos with con‐ genital anomalies.

Subsequently, the fetal systems are addressed in a natural consecution: the central nervous system, the fetal face, the fetal heart, the thorax, the abdomen, the kidneys, the genitalia, and the extremities.

Finally, this book section ends with two chapters describing the fetal adnexal (placenta and umbilical cord) anomalies.

All authors proved an outstanding effort to cover extensive researched fields, in a detailed and accurate manner, for each condition addressed. The reader will find a large number of appropriate, informative, and high-quality ultrasound images and adequately referenced chapters.

The **second** section of the book highlights the unbreakable bond between obstetrics and medical genetics. Whereas the first chapter is a review in regard to biochemical and ultra‐ sound markers of chromosomal anomalies, the second one is dedicated to the genomic test‐ ing. A separate chapter is addressed to the genetic aspects of congenital heart diseases, and the last one is a comprehensive approach in counseling the couples whose fetuses have chromosomal abnormalities.

The **third** and last section of the book contains two important chapters, in regard to the management of pregnancy and delivery in these cases and the approach to be taken toward a dysmorphic neonate.

To conclude, the chapters of this book contain objective and exhaustive updated reviews of the existing pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with man‐ aging pregnancies with structural malformations or chromosomal anomalies.

From the bottom of my heart, I would like to thank all the distinguished colleagues who invested their valuable time in writing the chapters of this book.

I sincerely believe that this book is beneficial for many professionals working in the prenatal diagnosis.

**Stefania Tudorache, MD, PhD, MPH**

**Section 1**

**Fetal Structural Anomalies**

Associate Professor Prenatal Diagnosis Unit University of Medicine and Pharmacy of Craiova Romania **Fetal Structural Anomalies**

appropriate, informative, and high-quality ultrasound images and adequately referenced

The **second** section of the book highlights the unbreakable bond between obstetrics and medical genetics. Whereas the first chapter is a review in regard to biochemical and ultra‐ sound markers of chromosomal anomalies, the second one is dedicated to the genomic test‐ ing. A separate chapter is addressed to the genetic aspects of congenital heart diseases, and the last one is a comprehensive approach in counseling the couples whose fetuses have

The **third** and last section of the book contains two important chapters, in regard to the management of pregnancy and delivery in these cases and the approach to be taken toward

To conclude, the chapters of this book contain objective and exhaustive updated reviews of the existing pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with man‐

From the bottom of my heart, I would like to thank all the distinguished colleagues who

I sincerely believe that this book is beneficial for many professionals working in the prenatal

**Stefania Tudorache, MD, PhD, MPH**

University of Medicine and Pharmacy of Craiova

Associate Professor Prenatal Diagnosis Unit

Romania

aging pregnancies with structural malformations or chromosomal anomalies.

invested their valuable time in writing the chapters of this book.

chapters.

X Preface

chromosomal abnormalities.

a dysmorphic neonate.

diagnosis.

**Chapter 1**

**Provisional chapter**

**Congenital Fetal Anomalies and the Role of Prenatal**

The ultrasound is the most widely used diagnostic tool in obstetrics nowadays, in particular in the detection of developmental disorders. However, it is important to know which are those disorders that can be detected prenatally with great certainty, and which ones can be detected only partially or not at all prior to giving birth. Pregnant women have high expectations, that any abnormalities should be fully recognizable and detected early during pregnancy, and this often leads to damages lawsuits. Thus, the right information is essential, so the doctors providing information also must have up to date knowledge about the effectiveness of ultrasound diagnostics. Prenatal diagnostics also entails enormous medical professional responsibility, since the consequences of an accidental inaccurate diagnosis can have significant consequences for both the fetus and the family. Thus, it is important to determine that how early and in what proportion the ultrasound protocol of the current Hungarian pregnancy care system is able to detect the individual

**Keywords:** congenital malformations, prenatal ultrasound, ultrasound detection

**Congenital Fetal Anomalies and the Role of Prenatal** 

DOI: 10.5772/intechopen.71907

© 2016 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution,

© 2018 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use,

distribution, and reproduction in any medium, provided the original work is properly cited.

and reproduction in any medium, provided the original work is properly cited.

Nowadays, 2D ultrasound is the most important diagnostic technique in obstetrics, especially

The first diagnostic ultrasound screening usually takes place at around 11–13 weeks of pregnancy, when the thickness of the nuchal translucency is measured and the presence of the nasal bone is confirmed. Nuchal translucency (NT) is an excess fluid under the nuchal skin of the fetus in the first trimester. In 1866, Langdon Down described this phenomenon as trisomy 21 patients' having "too large skin" [1]. In the 1990s it was recognized that the excessive fluid

**Ultrasound**

**Abstract**

disorder groups.

in the diagnosis of congenital malformations.

**1. Introduction**

**Ultrasound**

Fanni Rebeka Erős and Artúr Beke

Fanni Rebeka Erős and Artúr Beke

http://dx.doi.org/10.5772/intechopen.71907

Additional information is available at the end of the chapter

Additional information is available at the end of the chapter

**Provisional chapter**
