Prenatal Diagnosis of Down Syndrome

The chapter’s contribution to the book explores the prenatal modalities to diagnose Down syndrome (DS). The current knowledge in the field of genetic sonographic markers is presented, along the performance of current policies as well as the potential of new emerging genetic techniques. Besides the screening or testing pregnancy algorithms, the chapter describes the power of prenatal diagnostic techniques, namely, the advantages and the complications of the invasive genetic maneuvers. The progress in prenatal diagnosis of Down syndrome is one of the most important in prenatal medicine in the last decades. The methods vary in terms of detection rates, acceptability, costs, and potential complications. Although the early genetic screening was improved, ultrasound evaluation should not be dismissed, as the first-trimester sonography has the potential to diagnose the majority of major fetal abnormalities

Evolutionary Computation Paradigm to Determine Deep Neural Networks Architectures

Image classification is usually done using deep learning algorithms. Deep learning architectures are set deterministically. The aim of this paper is to propose an evolutionary computation paradigm that optimises a deep learning neural network’s architecture. A set of chromosomes are randomly generated, after which selection, recombination, and mutation are applied. At each generation the fittest chromosomes are kept. The best chromosome from the last generation determines the deep learning architecture. We have tested our method on a second trimester fetal morphology database. The proposed model is statistically compared with DenseNet201 and ResNet50, proving its competitiveness

Birth Control and Family Planning Using Intrauterine Devices (IUDs)

Intrauterine devices (IUDs) represent one of the most important methods used for contraception. The methods vary in terms of efficiency, acceptability, costs, and potential complications. Early methods have been improved, and ultrasound (US) evaluation has become an important tool to diagnose the clear majority of IUDs complications. This chapter presents a comprehensive and up-to-date status regarding the use of intrauterine devices (IUDs) for birth control and family planning. The topics discussed in the manuscript will involve the current knowledge on the history, types, mechanisms, health benefits, and risks. More, the present paper presents the medical techniques for inserting and removing a IUD, and the role of US to confirm proper IUD placement. Also, this chapter offers practical guidance in managing problems of continuing users and discusses the clinical circumstances that require reconsideration of the contraception methods

Fetal Abdominal Wall Defects

Abdominal wall defects (AWDs) represent a group of congenital anomalies that can be diagnosed early during pregnancy even at the time of the first trimester assessment, with direct impact on pre- and postnatal fetal prognosis and management decisions. The most frequent anomalies in this group are gastroschisis and omphalocele. The key method available, that allows the detection of any deviation from the physiologic midgut herniation, is the ultrasound (US) assessment. A precise algorithmic scan approach is imposed not only for an accurate detection of any abdominal wall defect, but also for a proper location of the defect and of the spatial relation to the umbilical cord insertion, fundamentally important in differentiating among various malformations. Other structural or chromosomal anomalies should be excluded. Suitable multidisciplinary counseling should be considered. Unfortunately, in utero surgery, in these cases, has not been yet successful. Postnatal early interventions are usually required in specialized pediatric centers

Abnormalities of the Placenta

The placenta is considered an important organ that evolves with the implantation of the blastocyst throughout the pregnancy. The placenta has an essential role in functions such as nutrition, excretion, and immunologic and endocrine function. The normal placenta is a round- or oval-shaped organ that attaches to the uterine wall and has roughly 22 cm in diameter and a thickness of about 2–2.5 cm and weighs about one sixth of the fetal birth weight. Thus, a normal development of the placenta is important for an uneventful embryonic and fetal development. Consequently, the placenta abnormalities can range from structural anomalies, to function disorders, to site of implantation abnormalities

The role of ultrasound in the prognosis of adverse perinatal outcome in fetuses with intrauterine growth restriction

University of Medicine and Pharmacy of Craiova, County Clinical Emergency Hospital of Craiova, Craiova, Romania, The IVth Congress of Radiology and Medical Imaging of the Republic of Moldova with international participation, Chisinau, May 31 – June 2, 2018Background: Doppler ultrasound may indicate poor fetal prognosis by detecting abnormal blood flow waveforms. The study aimed to evaluate the Doppler ultrasound assessment on umbilical artery (UA) and middle cerebral artery (MCA) as a predictive marker of perinatal outcome in fetuses with intrauterine growth restriction (IUGR). Material and methods: A total of 126 IUGR pregnancies with a birth weight <10 percentiles were ultrasonographically evaluated. Doppler velocity in UA and MCA, was performed at 30.6-32.6 weeks of pregnancy. We considered adverse perinatal outcome: Apgar score ≤7 to 1 and 5 minutes, admission to the Department of Neonatal Intensive Care (NICU), gestational age <37 weeks at birth. Results: In the abnormal Doppler group, the newborns weight was 7±1.51 percentile, Doppler anomaly (absent/reversed end diastolic flow, UA-PI>95 percentiles, cerebro-placental ratio <1) determined the Apgar score of 6±0.75/1 minute and 7±0.64/5 minutes, a gestational age at birth of 36.2±1.01 weeks (premature birth), an admission to the NICU of 30.15% for neonates. Comparatively, in the normal Doppler group, the newborns weight was 9±1.03 percentile, the Apgar score was 8±0.95/1 minute and 9±0.76/5 minutes, the gestational age at birth was 37.4±0.99 weeks and admission to the NICU was required in only 12.69% of neonates of this group. Conclusions: Doppler antenatal monitoring may be a useful marker in the prognosis of perinatal evolution in fetuses with severe growth restriction

Congenital Abnormalities of the Fetal Face

Even at the early stages of gestation, the fetal face can be examined. There have been observations of the normal anatomy, such as orbits and the forehead, starting with the 12th week of gestation. However, nowadays, ultrasound equipment still cannot distinguish the soft tissues of the face, which are too thin. Yet, after the age of 14 weeks, we can easily examine the forehead, orbits, nose, lips, and ears. Recently, three-dimensional ultrasound (3D) images of the fetus can also be obtained. However, two-dimensional (2D) ultrasonographic (US) images are more easily, rapidly, efficiently, and accurately obtained. At the first stage of embryogenesis, the main part in the development of the fetal face is taken by the genetic factors. Later, the influence of the environment becomes more important. It is known that the outcome of chromosomal aberrations and of teratogenic factors is the facial malformation. Therefore, examining the facial dimorphism may get us useful hints in revealing chromosomal or genetic abnormalities. This chapter focuses on the fetal face anomalies more frequently found while performing the prenatal diagnosis. It is divided into anomalies of the orbits, nose, lip, palate, and mandible

Congenital Abnormalities of the Fetal Heart

Congenital heart defects (CHDs) are the most frequent congenital malformations, the costliest hospital admissions for structural defects and the leading cause of infant general and malformations related mortality. Fetal echocardiography represents a skilled ultrasound examination, because of the complexity, physiological and structural particularities of the fetal heart. The efficiency of the cardiac scan is reported with great variation, depending on the scanning protocol, examiner experience and equipment quality but CHDs remains among the most frequently missed congenital abnormalities

Developmental Brain Asymmetry. The Good and the Bad Sides

Brain asymmetry is a hallmark of the human brain. Recent studies report a certain degree of abnormal asymmetry of brain lateralization between left and right brain hemispheres can be associated with many neuropsychiatric conditions. In this regard, some questions need answers. First, the accelerated brain asymmetry is programmed during the pre-natal period that can be called “accelerated brain decline clock”. Second, can we find the right biomarkers to predict these changes? Moreover, can we establish the dynamics of these changes in order to identify the right time window for proper interventions that can reverse or limit the neurological decline? To find answers to these questions, we performed a systematic online search for the last 10 years in databases using keywords. Conclusion: we need to establish the right in vitro model that meets human conditions as much as possible. New biomarkers are necessary to establish the “good” or the “bad” borders of brain asymmetry at the epigenetic and functional level as early as possible

Learning deep architectures for the interpretation of first-trimester fetal echocardiography (LIFE) - a study protocol for developing an automated intelligent decision support system for early fetal echocardiography

Abstract Background Congenital Heart Disease represents the most frequent fetal malformation. The lack of prenatal identification of congenital heart defects can have adverse consequences for the neonate, while a correct prenatal diagnosis of specific cardiac anomalies improves neonatal care neurologic and surgery outcomes. Sonographers perform prenatal diagnosis manually during the first or second-trimester scan, but the reported detection rates are low. This project’s primary objective is to develop an Intelligent Decision Support System that uses two-dimensional video files of cardiac sweeps obtained during the standard first-trimester fetal echocardiography (FE) to signal the presence/absence of previously learned key features. Methods The cross-sectional study will be divided into a training part of the machine learning approaches and the testing phase on previously unseen frames and eventually on actual video scans. Pregnant women in their 12–13 + 6 weeks of gestation admitted for routine first-trimester anomaly scan will be consecutively included in a two-year study, depending on the availability of the experienced sonographers in early fetal cardiac imaging involved in this research. The Data Science / IT department (DSIT) will process the key planes identified by the sonographers in the two- dimensional heart cine loop sweeps: four-chamber view, left and right ventricular outflow tracts, three vessels, and trachea view. The frames will be grouped into the classes representing the plane views, and then different state-of-the- art deep-learning (DL) pre-trained algorithms will be tested on the data set. The sonographers will validate all the intermediary findings at the frame level and the meaningfulness of the video labeling. Discussion FE is feasible and efficient during the first trimester. Still, the continuous training process is impaired by the lack of specialists or their limited availability. Therefore, in our study design, the sonographer benefits from a second opinion provided by the developed software, which may be very helpful, especially if a more experienced colleague is unavailable. In addition, the software may be implemented on the ultrasound device so that the process could take place during the live examination. Trial registration The study is registered under the name „Learning deep architectures for the Interpretation of Fetal Echocardiography (LIFE)”, project number 408PED/2020, project code PN-III-P2–2.1-PED-2019. Trial registration: ClinicalTrials.gov , unique identifying number NCT05090306, date of registration 30.10.2020