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Introduction . The recent introduction of three- and four-dimensional ultrasonography opens a promising perspective in prenatal diagnosis. Objective . To assess the use of the STIC technique as a screening tool in order to perform a “basic and extended fetal cardiac evaluation”. Methods and material . A number of volumes are prospectively obtained during the routine morphological scan by a general sonographer in 28 patients randomly selected among those attending our unit. Afterwards, an experimented examiner in fetal echocardiography proceeds to their offline analysis. The successful rate of volume acquisition and analysis is evaluated, as well as the percentage of cases in which a “basic” or “extended” cardiac evaluation is possible through single sweep and multiplanar navigation. Cases with chromosomal anomalies, cardiac abnormalities or extracardiac malformations are excluded. Results . A number of 58 volumes are included, with gestational ages ranging between 17 and 35 weeks. STIC acquisition was possible in all cases. A “basic cardiac study” was achieved in 100% of cases, while an “extended cardiac study” was achieved in 86% of them. Multiplanar study improved the visualization of those structures not identifiable through the initial acquisition single plane in all cases. Conclusions . We present the first study on a nationwide scale about the introduction and applications of the STIC technology. STIC volumes can be obtained by operators inexperienced in fetal echocardiography and their offline analysis enables recognition of most of the structures and views necessary to assess fetal cardiac anatomy. [ABSTRACT FROM AUTHOR]

This article reviews the importance of embryo-fetal necropsy (especially in legal abortion), discusses how diagnosis is made and outlines its final aims. A detailed embryo-fetal necropsy must be made in all cases of ultrasound prenatal diagnosis of malformations. The purpose is to provide appropriate counseling and to control the quality. The ultrasonologist should be present at necropsy. [ABSTRACT FROM AUTHOR]

Background. Screening strategies for the detection of aneuploidies should be performed by every Prenatal Diagnosis Service. Several screening approaches have been developed, reaching detection rates of at least 85% for a 5% false-positive rate. Our experience in a population with a high percent of women aged 35 or older using combined screening is presented. Methods. From July 1999 to October 2004, we conducted a prospective study of screening for fetal aneuploidies among pregnant women between 10 and 14 weeks. Risks for aneuploidy were calculated by combined screening, using maternal age, maternal serum free-βhCG, pregnancy-associated plasma protein-A (PAPP-A) and fetal nuchal translucency. The result was considered positive if the combined risk exceeded the cut off risk of 1/270. Results. Screening was completed in 4538 singleton pregnancies. The mean maternal age was 31.08 years, and in 25.9% the age was 35 years or greater. The detection rate was 76.9% (30/39) for all aneuploidies with a false-positive rate of 3,6%. For trisomy 21, the detection rate was 7.7% (14/19) with a false-positive rate of 3.6%. At a 5% false-positive rate, the sensitivity of combined screening and nuchal translucency were 78.9% and 63.2% respectively. Conclusion. First trimester combined screening is efficient, and its application can be assumed in a tertiary-hospital. [ABSTRACT FROM AUTHOR]

The antenatal diagnosis of placenta accreta is invaluable in planning an approach to delivery or to management of an early intrauterine demise. The women most at risk are those who have had uterine surgery and have placenta previa, but placenta accreta can occur in any pregnancy. In early pregnancy the most useful ultrasound finding is implantation of the sac over a uterine scar. Vascular sinuses, appearing as early as 15 weeks, are irregularly shaped, have obvious blood flow when evaluated with color Doppler, and have the highest sensitivity for placenta accreta. Loss of the usual retroplacental clear space as a sole finding will usually be false positive. Magnetic resonance imaging diagnosis is in its infancy and has not yet been proven to add information unless the placenta is posterior. In the future it will hopefully aid in distinguishing placenta accreta from percreta. [ABSTRACT FROM AUTHOR]

Nuchal translucency (NT) is defined as the accumulation of subcutaneous fluid in the nuchal region of the fetus at 11–14 weeks. Its measurement in order to modify the previous background risk has been proved to be able to detect around 70% of trisomy 21 pregnancies (for a 5% fixed positive rate). When affected fetuses dying before 20 weeks are excluded, detection rate may decrease to 60%. Given that appropriate training of sonographers and adherence to a standard technique for the measurement of NT is of paramount importance to reduce variability, the Fetal Medicine Foundation has established a certification process. Fetal nuchal edema displayed at 15–20 weeks was described as enlarged nuchal skinfold, and is a less sensitive but more specific marker than nuchal translucency. Webbing of the neck in infants with trisomy 21 may be envisaged as the remainder of nuchal distension. [ABSTRACT FROM AUTHOR]

Cardiac anomalies are the most commonly overlooked defects in prenatal ultrasound assessment. The issue of missed prenatal diagnosis is disturbing, particularly when it occurs against a background of tremendous skill and technologic support. New policies to minimize mistakes in this critical aspect need to reach a consensus. Recent new strategies should be put in place in a multidisciplinary manner if they are to have a significant clinical impact. Particularly relevant are the strategies to improve prenatal diagnosis of congenital heart defects, to advance gestational age at diagnosis, to identify new prenatal markers of heart defects and to incorporate new tools in the field of fetal echocardiography. As a result of these advances, the prenatal detection and diagnosis of coronary heart disease has developed an increasing impact on the perinatal outcome of pregnancies complicated by fetal heart disease. We review some of the recent developments in this multidisciplinary area. [ABSTRACT FROM AUTHOR]

Reviews invasive procedures for fetal diagnosis in multiple pregnancies. Role of ultrasonography as a diagnostic tool and therapeutic procedure in multiple gestations; Comparison of singleton and multiple gestations with respect to prenatal genetic diagnosis; Discussion of chorionic villus sampling and amniocentesis; Consideration of multifetal pregnancy reduction; How feticide must be performed; Fetal blood sampling by cordocentesis.

Although most correctable malformations diagnosed in utero are still better managed by postnatal surgical treatment, in selected cases treatment before birth with fetal surgery may be the best option. Fetal surgery has been made possible by recent advances in fetal imaging, such as three-dimensional ultrasound and rapid acquisition magnetic resonance imaging. Recent advances in maternal anesthesia, tocolysis and technical aspects of surgery have also diminished the risks to the fetus and the mother. Successful fetal surgery treatment of lower urinary tract obstruction, congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, bronchopulmonary sequetration and sacrococcygeal teratoma has been carried out over the past decade. Much of the progress in open fetal surgery has been made possible by applying new surgical, anesthetic and tocolytic techniques. It has been suggested that minimally invasive fetoscopic procedures will result in less uterine irritability and preterm labor and in reduced maternal and fetal risk. [ABSTRACT FROM AUTHOR]

Examines whether there is a role for cordocentesis and amniocentesis in the assessment of Rhesus disease. History of Rhesus alloimmunization, noting its discovery, research and treatment over the years; Recent research indicating a relationship between peak systolic velocity of the middle cerebral artery and fetal anemia; Review of risk involved with invasive diagnostic and therapeutic procedures and refinements on ultrasound and Doppler studies.

The objective was to evaluate the associations between arterial, venous and intracardiac parameters and adverse perinatal outcome in growth restricted fetuses. Fetuses beyond the 26th week of gestation with an abdominal circumference below the 5th percentile were included in this prospective study. The last Doppler measurement of the umbilical artery, middle cerebral artery, ductus venosus, outflow tract waveforms, atrioventricular flow and ventricular shortening fraction before delivery and adverse perinatal outcome were used for univariate (Fisher's exact test) and multivariate (stepwise logistic regression) statistical analysis. Adverse perinatal outcome was defined as the following: umbilical artery pH < 7.1, significant neonatal morbidity, need for admission to the neonatal intensive care unit, need for intubation at birth and perinatal mortality. A total of 108 fetuses met the inclusion criteria. The univariate analysis showed that presence of arterial redistribution; the absence or reversion of the umbilical artery end-diastolic flow; an abnormal aortic peak velocity, left shortening fraction, right shortening fraction, right atrioventricular E/A ratio and a pulsatile ductus venosus flow are associated with adverse perinatal outcome. The multivariate analysis showed that apart from arterial redistribution, absent or reversed end-diastolic umbilical artery flow and abnormal ductus venosus waveform, no other tested variable added significantly to the prediction of adverse perinatal outcome. It was concluded that fetal cardiac function indices are associated with adverse perinatal outcome. Nevertheless, no benefit was found from using them, in terms of prediction, when arterial and venous Doppler are used. [ABSTRACT FROM AUTHOR]

The introduction of transvaginal ultrasound allowed assessing in-vivo and non-invasively an, until then, an non-explored territory: the early gestation. This technique revolutionized the evaluation and management of many clinical situations during this period of pregnancy. The advent of color Doppler as a further step allowed the assessment of early pregnancy hemodynamics. This article will review the hemodynamic changes in early normally developing pregnancy and the potential clinical application of transvaginal color Doppler ultrasound in this period. [ABSTRACT FROM AUTHOR]

Prenatal assessment consists of gathering and analyzing genetic, anatomical, biochemical, and physiological information about the fetus to detect any anomalies that might have repercussions during the fetal period or after birth. The main purpose of prenatal diagnosis is to be able to provide families with information about foreseeable anomalies, genetic counseling, and/or therapeutic alternatives for any anomalies detected. This is a multidisciplinary task involving obstetricians, geneticists, pediatricians, radiologists, and psychologists. Prenatal diagnosis has improved considerably in recent years, thanks to technical and technological advances in chromosomal diagnosis of fetal cells, biochemistry, echography, and molecular genetics. Advances in diagnostic imaging techniques have brought about improvements in image quality and increased sensitivity and specificity, making the detection of anatomical anomalies one aspect of prenatal diagnosis that has come to play a fundamental role. Ultrasound (US) is the standard method in routine screening for fetal anomalies; however, this technique has its limitations, even in expert hands. The use of magnetic resonance imaging (MRI) in pregnant patients was first described in 1983 1 , but its use in fetal studies was, until very recently, very limited due to the degradation in image quality caused by fetal movements. The advent of fast MRI sequences has enabled images to be obtained in a matter of seconds, thus eliminating the problem of motion artifacts 2 – 6 . MRI is fast becoming a non-invasive complementary technique to US in the detection of fetal anomalies. [ABSTRACT FROM AUTHOR]

Congenital heart defects (CHD) affect about 3–8 live births and are a leading cause of childhood mortality. The definition of CHD during fetal life, where the examiner must deal with a patient who cannot be visualized directly and is within another individual, presents unique challenges. Over the past 20 years fetal echocardiography has emerged as an accurate tool to diagnose CHD, becoming clear that the efficacy of prenatal diagnosis increases as pregnancy advances, and has impacted on the management strategy for many of these lesions. At the same time, there has been a growing social demand in developed countries for an earlier and better prenatal diagnosis, supported by the possibility of choice of whether to continue or not with the pregnancy when the fetus is affected by a congenital anomaly. These different points of view in the management of CHD often collide generating conflicting situations that the specialists involved must face. The main features relating to the prenatal approach to CHD including the many difficulties that still limit our diagnostic capabilities, the definition of new high-risk groups based on first trimester sonographic markers, mainly increased nuchal translucency, with the parallel development of early echocardiography and the impact of fetal cardiac diagnosis on disease outcome are reviewed in this article. [ABSTRACT FROM AUTHOR]

Objective . The objective was to determine the changes in the prenatal detection rate of congenital heart diseases and the emergency neonatal transfer rate due to conducting a fetal cardiac screening using a checklist. Methods . A checklist with 40 items, including eight items regarding the fetal heart, was used by registered medical sonographers conducting ultrasonic screenings on all pregnant women who were scheduled for delivery. Results . The prenatal detection rate of congenital heart diseases was 13.8% prior to the checklist and increased to 34.2% after its implementation. Regarding major congenital heart diseases, the detection rate is now 89.5%, and most diseases can be detected before birth. For five years prior to implementation of fetal cardiac screening, there were 14 cases of newborns (0.14%) requiring emergency neonatal transfer due to a major congenital heart disease that was not detected before birth. For five years after implementation, the emergency transfer rate decreased by 1/7 to 0.02% (two cases). Conclusion . At obstetric facilities where there is no pediatric cardiologist, the number of emergency neonatal transfer cases after birth can be reduced by the following measures: a registered medical sonographer conducts fetal cardiac screening for congenital heart diseases during pregnancy to detect diseases and refer any cases to a perinatal tertiary center in advance. [ABSTRACT FROM AUTHOR]

The article reviews findings from first trimester evaluations of absent fetal nasal bone, a key marker of Down syndrome or trisomy 21. It also offers guidelines for obtaining the proper view of the fetal nasal bone during first trimester evaluation and discusses several studies showing that the ability to obtain the appropriate view and the ability to learn how to perform the examination are reasonably attainable.

Focuses on prenatal diagnosis. Nature of medical diagnostics and the perception by the patient; Potential for destructive diagnoses in fetal medicine; Suggestion that prenatal diagnosis may actually be therapeutic while being destructive; Ethical aspects of pregnancy termination; Example of rhesus isoimmunization in prenatal diagnosis; Example of myleomeningocele in prenatal diagnosis.