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Fetal aneuploidies and major fetal abnormalities can now be diagnosed by ultrasound examination in the first trimester of pregnancy. In such early assessment, measurement of impedance to blood flow in the uterine arteries, using Doppler ultrasound, together with measurement of the concentration of placental products in the maternal circulation can be used for the prediction of preeclampsia, fetal growth restriction, and stillbirth. Identification of the high-risk group for such pregnancy complication in the first trimester could potentially reduce the prevalence of the complications through pharmacological interventions which may improve placentation. [ABSTRACT FROM AUTHOR]

The prelims comprise: Half-Title Page, Dedication Page, Title Page, Copyright Page, Table of Contents, List of Contributors, Preface, Acknowledgments [ABSTRACT FROM AUTHOR]

The determination of the fetal RhD blood group is essential for the prevention of haemolytic disease of the newborn; prenatally it can be determined by genotyping fetal DNA. The advantage of fetal RHD genotype determination from maternal plasma compared to classical fetal sampling is enormous, since there is no risk for either the mother or the fetus. In the last few years, sensitive methods such us qPCR, have been developed. In our study, the newly developed qPCR assay was used and a new pre-analytical step was included to improve the robustness of the test and the reliability of the results. This pertains especially to the determination of the fetal RHD status in early pregnancy when the amount of cell-free fetal DNA in the mother΄s blood is extremely low. The new pre-analytical step increased 512-fold the amount of detected cell free DNA and cell free fetal DNA from maternal plasma. [ABSTRACT FROM AUTHOR]

To date, most research on fetal nucleic acid trafficking in the maternal circulation has largely concentrated on noninvasive prenatal diagnosis of trisomy 21 and single gene disorders using circulating cell-free fetal DNA in maternal blood. In contrast, our laboratory has focused its investigations on the wealth of genomic information available from the fetus and neonate through analysis of multiple body fluids. This mRNA-based approach has identified important differences between euploid and aneuploid fetuses in second trimester amniotic fluid samples, highlighted the presence of fetal sensory and neurodevelopmental transcripts in the whole blood of pregnant women at term, provided a novel way of acquiring developmental information through serial salivary genomic analyses in the premature neonate, and identified potential innovative fetal treatment strategies for fetuses affected with genetic disorders. By exploiting the abundance of fetal and neonatal genomic information available in multiple body fluids (many of which can be obtained noninvasively), we can broaden our understanding of fetal and neonatal development in normal and abnormal conditions. This information can then be translated to improve prenatal and neonatal diagnosis and therapy. This work demonstrates that the study of cell-free nucleic acids has significant applications beyond prenatal diagnosis of aneuploidy. [ABSTRACT FROM AUTHOR]

The discovery of cell-free fetal DNA in maternal plasma has offered new possibilities for non-invasive prenatal diagnosis and monitoring. The co-existence of fetal DNA as a minor fraction with a major background of maternal DNA in maternal plasma has posed a challenge for non-invasive prenatal detection of fetal chromosomal aneuploidies. The early approaches focus on the detection of fetal-specific RNA or DNA molecules to develop strategies for chromosome dosage determination, such as the RNA-single nucleotide polymorphism (SNP), epigenetic allelic ratio, and the epigenetic-genetic chromosome dosage approaches. While the detection of polymorphism is involved in these methods, a polymorphism-independent method has been developed with the highly precise digital polymerase chain reaction (PCR) platform. The power of single molecule counting technology is further demonstrated by the massively parallel sequencing platform for the direct detection of fetal chromosomal aneuploidies from maternal plasma. The analytical power of the latter approach with an unprecedented sensitivity, specificity, accuracy and precision has made it the most promising strategy for the clinical implementation of non-invasive prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Chapter 12 of the book "Manual of Neonatal Surgical Intensive Care," Second Edition, is presented. The chapter discusses the orthopedic abnormalities in newborn infants. The use of ultrasonography may diagnose neural tube defects, congenital scoliosis and other skeletal dysplasias in the prenatal period. The most common musculoskeletal birth trauma is said to be the clavicular fractures, which occur in as many as 5% of all births.

Part 2 of chapter 7 of the book "Manual of Neonatal Surgical Intensive Care," Second Edition, is presented. This section focuses on the embryology, incidence, prenatal diagnosis and treatment of neonatal omphalocele. Also included are the postnatal presentation and diagnosis of the said condition, along with the associated syndromes. The section also covers differential diagnosis, preoperative and surgical management of the disease.

Chapter 2 of the book "Manual of Neonatal Surgical Intensive Care," Second Edition, is presented. This chapter discusses prenatal diagnosis and treatment for fetal abnormalities. The prenatal diagnostic techniques tackled include biomarker screen, chorionic villus sampling and amniocentesis while the fetal abrnomalities described include polyhydramnios, meconium peritonitis and fetal ascites. Also tackled are the perioperative management of the fetus and the mother.

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The ductus venosus (venous duct, ductus Arantii) is one of the three physiological shunts responsible for the circulatory adaptation to intrauterine life. It is attributed to Giulio Cesare Aranzi (1530–1589), but the first written account dates back to his contemporary Vesalius in 1561 [1]. Its function was long recognized [2, 3] but of hardly any clinical importance until ultrasound techniques were introduced [4–6]. It is now widely used as an important part of the hemodynamic assessment of the fetus [7] and has been suggested for diagnostic use after birth as well [8]. [ABSTRACT FROM AUTHOR]

Examination of the fetal circulation by Doppler techniques provides evidence of some of the mechanisms of adaptation and decompensation of the IUGR fetus in response to uteroplacental insufficiency. At present, the condition of IUGR fetuses can be accurately assessed by sequential studies of Doppler waveforms from various vascular areas. Therefore the optimal timing of delivery to prevent intrauterine injury may be guided by combining multivessel Doppler ultrasounds. Combining Doppler, composite biophysical profile, and/or computerized fetal heart rate analysis will provide significant early indication for action in the management of severe IUGR fetuses. [ABSTRACT FROM AUTHOR]

This chapter looks at the various techniques and procedures used in reproductive genetics. Prenatal screening is the programmatic search for fetal abnormalities such as congenital malformations, chromosomal disorders, neural tube defects and genetic conditions among the asymptomatic population of pregnant women. The most usual form of maternal serum screening is the triple test or triple screen. The triple test is a blood test that examines the level of alpha-fetoprotein or AFP and two pregnancy hormones estriol and human chorionic gonadotrophin. Diagnostic ultrasound is often used routinely in pregnancy as an all-purpose guide to fetal development. It is a procedure that forms an image of the fetus by using sound waves. A video image called a sonogram is displayed on a monitor as the sound waves can be converted into an image. Physical features of the fetus can be seen and often a photo can be produced from the monitor image for prospective mothers or parents. Chorionic villus sampling is a way to look at fetal chromosomes and it is performed at the tenth to twelfth week of pregnancy. In this procedure, physicians remove a tiny sample of chorionic tissue with a small tube that is inserted into the vagina through the cervix to collect a tiny sample at the edge of the placenta. The sample can also be taken in a similar way to amniocentesis.

The article discusses the significance of ultrasound which generates visual images from inside the human body like the fetus, malignant tissue and other diagnosis from the test medium. Ultrasound is based on a wave-material interactive phenomena which determines material characteristics such as density, thickness, mechanical properties and level sensing. Ultrasound provides a nondestructive characterization of materials and noninvasive diagnostics applications in the medical field.

In this chapter the term "medical terminations" is used to describe pregnancy terminations performed for very serious medical reasons. This is not to be confused with the other use of the term, which describes a medical method rather than a surgical procedure for terminating a pregnancy. Although abortion remains the common theme, the circumstances surrounding terminations for medical reasons are unique and differ substantially from terminations for "social" reasons. While they remain a tiny minority of the total number of abortions carried out in Great Britain each year, they individually give rise to enormous pain, suffering and concern. The majority of medical terminations are carried out because of foetal abnormality, discovered antenatally. Very rarely a pregnancy may be terminated because of serious maternal illness that would be accelerated or lead to death if the pregnancy were allowed to continue. Antenatal testing gives the opportunity for the couple to rule out, or more unhappily discover, that their baby is affected by one of the few abnormalities that can be diagnosed prenatally.

This article examines the psychosocial aspects of genetic disorders. Several factors which are related to the psychosocial impact of genetic concerns include the impact of the genetic diagnosis, the characteristics of a genetic diagnosis, crisis issues, psychological aspects of reproductive risks, the impact of amniocentesis and abortion for genetic reasons, the impact of the counseling situation, and the social service needs of genetic clients. The common characteristics of genetic diagnosis are described.

In the 1990s, new techniques and therapies for fetal problems continue to develop. Prenatal technology now provides information regarding unborn children which can sometimes be negative. This paper addresses the counseling techniques and therapeutic approaches perinatal social workers can use when dealing with parents who are confronted by hard choices regarding their pregnancies. [ABSTRACT FROM AUTHOR]

Examines the psychological effects of prenatal diagnostic procedures. Use of ultrasound scanning; Risk for fetal abnormalities and congenital malformations; Ways of detecting fetal cardiac abnormalities.