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Objective: To determine which prenatal ultrasound findings indicate the need to also obtain PCR studies for viral genome in women undergoing midtrimester amniocentesis., Methods: This was a retrospective observational study on women that underwent amniotic fluid karyotyping and viral PCR testing for history or ultrasound based indication. Amniotic fluid was tested for adenovirus, cytomegalovirus, respiratory syncytial virus, enterovirus, Epstein-Barr virus, and parvovirus B19 using multiplex PCR study with multiple appropriate controls. Ultrasound findings were coded as normal or abnormal with 34 categories of ultrasound abnormality stratified into 18 subgroups. Relationships between these subgroups and karyotype/PCR results were tested by Pearson chi-square method or Fisher's exact test and overall logistic regression analysis., Results: Amniotic fluid samples from 1191 patients were obtained for the study. Abnormal karyotype was detected in 5.4% of cases (64/1191), and PCR was positive in 6.5% of cases (77/1191). Abnormal fetal ultrasonographic findings were observed in 28.4% of cases (338/1191). There was an association between intrauterine growth restriction, nonimmune hydrops fetalis, hand/foot anomalies or neural tube defects (NTDs), and PCR positivity. NTDs were associated with PCR positivity in fetuses with normal karyotype and nuchal thickening, cardiac or ventral wall defects were specifically associated with aneuploidy., Conclusion: Amniotic fluid viral PCR testing should be considered for fetuses with intrauterine growth restriction, nonimmune hydrops fetalis, hand/foot anomalies, or NTDs. After aneuploidy is excluded, NTDs are associated with PCR positivity., (© 2012 John Wiley & Sons, Ltd.)

Objective: Symptomatic fetal viral infection can affect placental and fetal development and may lead to non-immune hydrops or fetal death. All infections are not detectable by clinical history or ultrasound and a background positivity rate exists in asymptomatic patients. We investigated if intraamniotic presence of viral genome at the time of genetic amniocentesis in asypmtomatic patients affects perinatal outcome., Study Design: Six-hundred and eighty-six pregnancies referred for second trimester genetic amniocentesis with a normal ultrasound and fetal karyotype had amniotic fluid multiplex polymerase chain reaction for adeno-, cytomegalo-, Ebstein-Barr-, entero- and parvovirus. Forty asymptomatic patients that were positive for viral genome were matched 2:1 with negative controls. Perinatal outcomes were compared between these groups., Results: Pregnancy complications and perinatal outcomes were similar in the two groups., Conclusion: Asymptomatic fetal viral infection at the time of second trimester amniocentesis does not increase the risk for adverse perinatal outcome.

Background: Cardiac anomalies may be associated with abnormal coronary vascular connections. We report the prenatal diagnosis of ventriculocoronary fistula in three fetuses with associated cardiac anomalies., Materials and Methods: Fetal echocardiography was performed in three patients referred for suspected cardiac anomaly. Two-dimensional fetal echocardiography was complemented by color Doppler flow imaging and spectral Doppler in all cases., Results: A ventriculocoronary fistula was diagnosed in three patients referred at 22, 23 and 32 weeks. The first patient had hypoplastic left heart associated with transposition of the great arteries and pulmonary atresia with an intact interventricular septum. The coronary fistula arose from the transposed aorta to the left ventricle. In two patients ventriculocoronary fistula was found in association with pulmonary atresia and an intact interventricular septum. In all cases there was bidirectional flow within the fistula (diastolic blood flow towards the ventricle with reversal during ventricular systole). The pregnancy with hypoplastic left heart with transposition, and one of those with pulmonary atresia resulted in neonatal death and stillbirth, respectively. In the third instance the ventriculocoronary fistula was verified by postpartum cardiac angiography. The infant initially received a Blalock-Taussig shunt, subsequently replaced by a bidirectional Glenn shunt, and was doing well at the time of writing., Conclusion: A ventriculocoronary fistula can be identified prenatally by color and spectral Doppler. This anomaly should be sought in fetuses with outflow tract obstructive cardiac lesions and an intact interventricular septum. Prenatal diagnosis allows early angiography postnatally. Delineation of coronary vascular regions may therefore facilitate preoperative planning.

The focus of monitoring in diabetic pregnancy is no longer the prevention of fetal mortality, owing to the impressive benefits of strict maternal glucose control. Against this background, fetal monitoring must account for congenital anomalies, fetal mortality and severe morbidity as a result of metabolic consequences of hyperinsulinism, the exponential effect of diabetes when other maternal complications are present, and peripartum problems of the macrosomic infant, of delayed lung maturation, birth trauma and neonatal hypoglycemia. Thus, a broad range of potential fetal problems with varying maternal complications requires individualized, serial observation with multiple-format, properly validated tests. There has been recent progress: definition of the population at risk, clarification of pathophysiology, application of multiple-format tests, and evaluation of neonatal impacts; further precision may be developed with specific fetal tests. This review deals with the continued fine tuning of this critical area of perinatal medicine.

Acute hydramnios is a rare complication of pregnancy, usually of idiopathic etiology and associated with a very poor perinatal prognosis. In this single case report, acute hydramnios at 21 weeks' gestation, associated with fetal CMV infection, was treated by a single large volume reduction amniocentesis combined with maternal indomethacin therapy and result in delivery of a near term survivor.

This study was undertaken to evaluate the relationship between maternal serum alpha-fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median (MOM) value for MSAFP averaged 1.54 +/- 0.65 (range 0.5-2.9 MOM), which was significantly higher than the value seen in controls. The median MOM was 1.35. Using a cut-off of 2.5 MOM, the sensitivity of MSAFP for detecting OA was 19 per cent. Although OA should be considered in the differential diagnosis of an elevated MSAFP level, MSAFP cannot be considered an appropriate screening test for OA given the low sensitivity.

Fetal pulmonary malformations comprise a rare but often lethal group of congenital anomalies. Until recently, diagnosis and therapy were directed postnatally and therefore some cases of fetal compromise were inevitably missed. We present 2 cases in which intermittent thoracentesis of fetal cystic lung malformations resulted in a successful outcome. Intrauterine thoracentesis should be considered in the second and third trimester of pregnancy in cases which demonstrate early fetal compromise.

The practice of medicine is undergoing marked changes fueled by the infusion of vast amounts of new information concerning the etiology, the progressive pathophysiology, and the complexity of host response to disease states. It is only recently that we have begun to examine the present extent of fetal disease and to determine the characteristics of its advancements. This information now permits new and rational approaches to the management of fetal disease. Clinical significance, both real and potential, of this new wealth of information in reducing perinatal mortality and morbidity is difficult to overestimate. Cumulative experience with fetal biophysical scoring as a method for antepartum fetal risk assessment is now extensive. The cumulative data indicate that the method is sensitive for recognizing both the normal and the compromised fetus. Moreover, the method appears to offer the advantage of grading various degrees of fetal compromise. The additional information gained by real-time ultrasound scanning (gestational age determination, fetal morphometrics, and fetal anomaly screening), although not an integral part of the fetal biophysical profile score, nevertheless remains a critical aspect of antepartum fetal assessment. These data are collected simultaneously with fetal biophysical profile scoring. It is impossible to separate cleanly the advantage of fetal biophysical profile scoring in isolation of this additional information. It would, however, seem that such attempt at separation is artificial because the data in combination provide the key information that the physician needs to guide fetal management. It seems more reasonable to expect that continued modification and improvement of the existing fetal biophysical profile scoring method with inclusion of new testing techniques will be the steps that will occur to improve testing accuracy (Fig. 3). In medical schools in the 1960s, it was generally taught that the concept of "irreducible" perinatal mortality existed and that this figure was usually set at a perinatal mortality of around 8 per 1000. Now in the 1990s that perinatal mortality has already fallen below this irreducible level and continues to fall. We now observe perinatal mortality among tested fetuses of less than 7 per 1000 and corrected perinatal mortalities of less than 2 per 1000. These remarkable results strongly underscore the advantages obtained by ultrasound assessment of the fetus.

Antepartum detection, classification, determination of severity, and ultimately treatment of the fetus at risk for death and damage in utero form the very basis of modern perinatal medicine. The availability of accurate methods for assessing the fetus in utero are now becoming available. In extrauterine medicine, assessment of risk is based in part on the patient's activities and response to intrinsic and extrinsic stimuli. In extrauterine medicine, differentiation of normal sleep from coma is made by assessment of multiple biophysical variables and responses. It is most likely that the same principles hold true for differentiating the normal sleeping fetus from the asphyxiated fetus. Biophysical profile scoring offers one method for differentiation. It is likely that incorporation of this principle will improve the quality of perinatal care.

The rapid progress of the science of perinatology has produced a broad range of capabilities in our approach to the fetus. Advances in diagnostic methodology, both invasive and noninvasive, enable early identification and potentially, early correction, of a multitude of disorders. The laboratory correlates of this progress have kept pace, with possibilities in the areas of fetal surgery and genetic manipulation which seemed fantasy only a few years ago. Important moral issues which had been deferred because of our physical limitations must now be addressed. As instigators of the scientific stampede, perinatologists must assume a major role in the ethical inquiry as well.

In extrauterine medicine, physicians have come to rely upon sampling of multiple biophysical variables as a means of differentiating states of well-being and compromise. This basic tenet of medicine is expressed by obtaining an Apgar score or some variant in the newborn and as a measure of vital signs in later life. Few, if any, decisions regarding well-being are ever based on a single-variable assessment and, conversely, definition of compromise is rarely based upon a single variable. Through the use of dynamic ultrasound imaging it now becomes possible to visualize the fetus and its biophysical responses in health and disease. Through such visualization it becomes possible to bring to bear some of the basic principles that sustain extrauterine medicine on the intrauterine patient, the fetus. Fetal biophysical profile scoring describes a method that encompasses this concept. The results obtained by application of this method are promising. We would argue that consideration of multiple fetal biophysical variables will, in most instances, yield superior results to single-variable monitoring alone. Hence we have abandoned antepartum fetal heart rate testing as the sole method of fetal risk assessment and used the tool only in conjunction with others of the many variables that may be monitored by dynamic ultrasound methods. This concept of multiple-variable analysis as the superior method for fetal assessment seems clear and well-justified. It is our opinion, however, that the concept of fetal bioprofile scoring may be more important than the method itself in its original description.(ABSTRACT TRUNCATED AT 250 WORDS)

In this prospective blind study, 735 patients with high-risk pregnancies referred for antepartum testing of fetal well-being were randomly assigned to either a fetal biophysical profile scoring (375 patients) or a nonstress testing scheme (360 patients). Management was based on the results of antepartum tests, but the method of testing used was not disclosed. Fetal biophysical profile scoring resulted in a significantly higher positive predictive value in regards to low Apgar scores. Sensitivity, specificity, and accuracy, although higher with fetal biophysical profile scoring, did not demonstrate significant differences when compared with the nonstress test. The negative predictive value between the two methods was similar. All major anomalies were detected during ultrasound scanning, whereas none of these anomalies were detected by heart rate testing alone.

The rapidly evolving ability to detect the presence of major anomalies in the developing fetus and the emerging prospect of intrauterine treatment of some of these disorders are coupled to create an exciting new frontier in care of the high-risk pregnancy. Preliminary reports suggest that in some highly selected instances perinatal death and morbidity may be prevented by intrauterine surgical procedures. The technical ability to treat the disorder as described is at hand and is unlikely to be the limiting factor in the advance of this area of fetal treatment. However, the very fact that treatment is possible cannot be considered as proof of efficacy. The physician faced with the knowledge that a potentially treatable condition is present in a given fetus may feel the necessity of instituting treatment, but the validity of such an approach is far from established. It is our opinion that efforts should be made to set at the earliest point proper controlled scientific studies from which the benefit, if any, of this surgical approach to fetal disease may be established. Such clinical studies should be conducted in concert with studies in appropriate animal models. It should be noted that fetal surgical treatment is not without potentially lethal fetal and maternal complications. Before such risks, however small, are taken, it seems reasonable to determine the long-term benefits of the surgical procedure. To this end, participation in the International Fetal Surgery Registry is encouraged.

Two fetuses with obstructive uropathy characterized by striking oligohydramnios and dilatation of the urinary collecting system were identified by ultrasound and treated by percutaneous insertion of a long-term vesicoamniotic silicone rubber shunt. Both fetuses were less than 16 weeks' gestation at diagnosis and less than 18 weeks at treatment. One fetus was delivered at 35 weeks and is alive and well; the other died early in the neonatal period at 31 weeks with pulmonary hypoplasia.

Objective: It was our goal to determine the false-negative rate of the biophysical profile, characterize an 18-year variation in the false-negative rate, examine the relationship between the last normal biophysical profile score and death, and compare the false-negative rate of 2 disparate populations.Study Design: Biophysical profile scores of 86,955 patients at 2 medical centers were collected and recorded prospectively. All perinatal deaths occurring within 1 week of a normal score were similarly recorded. The annual false-negative rate, the cumulative false-negative rate, and the ratio of false-negative results in cases of subsequent fetal death to the perinatal mortality rate were calculated.Results: There were 65 fetal deaths among 86,955 fetuses. Over an 18-year study period at one institution, the false-negative rate varied but not significantly. The cumulative false-negative rate was 0.708 per 1000 at one medical center studied and 2.289 per 1000 at the other center. The average interval between last normal score and fetal death was 3.62 days and did not vary significantly between the medical centers.Conclusions: False-negative results in cases of subsequent fetal death reflect events that are subsequent to the last normal test result. Fetomaternal hemorrhage was the single most identifiable fetal cause of false-negative results in cases of subsequent fetal death. The ratio of the false-negative rate in cases of subsequent fetal death to the perinatal mortality rate should be used as a more objective approach to reporting this value, because the false-negative rate likely reflects the underlying perinatal mortality. [ABSTRACT FROM AUTHOR]