Improving prenatal detection of abdominal supraumbilical anomalies: The sonographic examination of fetal anechoic spaces of upper abdomen revisited.

Visualization of the axial plane of the fetal abdomen is mandatory to obtain abdominal biometry in the assessment of fetal growth in the second and third trimesters. The main anatomic landmarks that must be identified in this view include the fetal stomach and the intrahepatic portion of the umbilical vein, which are easily identifiable as they appear anechoic on ultrasound. The gallbladder is the other prominent anechoic structure in this plane. Focused study of the morphological characteristics of, and spatial relationship among, these three anechoic spaces is a simple technique to detect anomalies involving fetal upper abdominal organs. In this review, the sonographic features of those conditions that can be detected using this technique, which was termed the Fetal Examination of the Anechoic Spaces of upper abdomen Technique (FEAST), are classified and illustrated.

Echogenic material in the fetal gallbladder: prevalence, sonographic spectrum, and perinatal outcome in an unselected third-trimester population.

Objective: To determine the prevalence, sonographic spectrum, and clinical significance of echogenic material in the fetal gallbladder in our population.Methods: Sonographic visualization of the fetal gallbladder was attempted in 3894 consecutive third-trimester pregnancies (4026 fetuses). Gallbladder content was classified as clear (anechoic), containing echogenic material that was either diffuse (sludge), or presenting as a single focus or multiple foci (gallstone(s)). Information on the clinical course was obtained by reviewing the medical records or contacting the provider or the parents themselves.Results: During the three and a half-year study period from July 2014 to December 2017, 19 fetuses were identified as having echogenic material in the gallbladder (prevalence 1/211, 0.47%). Among them, echogenic biliary sludge was found in eight fetuses (42%); all eight were asymptomatic and a normal gallbladder was documented postnatally in four of them. Single (n = 3) or multiple (n = 8) echogenic foci were found in 58% of cases, which was associated with a good prognosis and subsequent resolution between 1 and 10 months of life in all cases.Conclusions: The prevalence of echogenic material in the fetal gallbladder in our population was similar to that previously reported in the literature. The prognosis appears to be favorable, with resolution and without subsequent postnatal hepatic or gastrointestinal complications in all cases.

First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature.

First-trimester ultrasound findings in 4 fetuses with agnathia-otocephaly complex are described. In addition, information from 3 cases reported in the literature was also reviewed, for a total of 7 cases analyzed. All 7 fetuses presented with agnathia and 6 with ventrocaudal displacement of the ears (melotia/synotia). Four fetuses had holoprosencephaly. In 6 cases, the parents opted for termination of pregnancy. The remaining case resulted in premature delivery at 26 weeks due to severe polyhydramnios and early neonatal death. This report highlights the important role of ultrasound in the identification of agnathia-otocephaly complex in the first trimester of pregnancy.

Splenic cyst as a rare cause of fetal abdominal cystic mass: A multicenter series of nine cases and review of the literature.

INTRODUCTION: Congenital splenic cysts are a rare cause of abdominal cystic masses in the fetus. We describe nine cases of this condition, the largest reported experience to date. A review of the literature for similar cases was also performed. METHODS: Cases of congenital splenic cyst were collected from three prenatal diagnostic centers and from a dedicated website of prenatal diagnosis. Information regarding clinical and sonographic findings was obtained by reviewing ultrasound reports and medical records. An electronic search of the Pubmed/MEDLINE database for similar cases, with subsequent manual cross-referencing, was performed and the relevant information from the articles was retrieved. RESULTS: A total of nine cases were added to the currently existing literature of 32 cases. In all but one of our cases, the prenatal detection of the splenic cyst was made in the third trimester, with a median gestational age at diagnosis of 30 weeks (range 22-37). The splenic cyst was confirmed after delivery in all but one case, which was lost to follow up. Postnatal sonographic examinations performed in the remaining eight cases showed that the cyst increased in size in two (25%), was stable in size in one (12%), decreased in size in one (12%), and completely regressed in the other four cases (50%). No complications associated with the cysts were reported in the infants. CONCLUSIONS: Congenital splenic cyst appears to be a benign condition with no known risk of perinatal complications. Nevertheless, differential diagnosis with other fetal cystic masses of the left upper abdominal quadrant and postnatal sonographic follow up to monitor the size of the cyst are important issues to be considered in the perinatal management of these cases.

Sustainability of Statewide Rapid HIV Testing in Labor and Delivery.

The objective was to assess sustainability of a statewide program of HIV rapid testing (RT) for pregnant women presenting for delivery with unknown HIV status. This is a population-based retrospective cohort study of women delivered in Illinois hospitals (2012-15). Deidentified data on RT metrics from state-mandated surveillance reports were compared using descriptive statistics and non-parametric tests of trend. Over 95% of the 608,408 women delivered had documented HIV status at presentation. The rate of undocumented HIV status rose from 4.19 to 4.75% (p < 0.001). However, overall 99.60% of women with undocumented status appropriately received RT and the proportion who did not receive RT declined (p = 0.003). The number of neonates discharged with unknown HIV status declined (p = 0.011). RT identified 23 new HIV diagnoses, representing 4.62% of maternal HIV diagnoses. In conclusion, statewide perinatal HIV RT resulted in nearly 100% of Illinois mother-infant dyads with known HIV status. Sustained RT completion represents an important prevention safety net.

Prenatal diagnosis of spina bifida: from intracranial translucency to intrauterine surgery.

Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign). In cases with positive findings, evaluation must include a focused examination of the spine for defects. In cases of closed SB and SB occulta, the cranial and posterior fossa features will not be present as they are not associated with leaking of spinal fluid and resultant hindbrain herniation, highlighting the fact that the spine should be examined thoroughly whenever possible during the second-trimester scan. In tertiary fetal medicine centers, two-dimensional and three-dimensional ultrasound allows an accurate determination of the location, type, extent, and upper level of the spinal defect as well as the presence of associated anomalies. Fetal magnetic resonance imaging should be restricted to candidates for intrauterine surgery as part of the preoperative protocol.

Microparticle source and tissue factor expression in pregnancy.

Microparticles (MPs) bearing tissue factor (TF) are potent activators of the coagulation system. To investigate whether MPs originating from platelets or trophoblast cells contribute to coagulation changes in pregnancy, we aimed to characterize whether pregnancy, labor, and delivery are associated with changes in the origin and composition of circulating maternal MPs. We performed a prospective cohort study. Blood samples were collected in 20 non-pregnant women, 20 term pregnant women not in labor, and 20 term pregnant women in labor. Two samples were collected in the pregnant groups, the first prior to delivery and the second 1 h after delivery. MPs from platelets and trophoblasts and MPs expressing TF were identified using flow cytometry. Comparisons were made among the non-pregnant and pregnant groups, non-laboring and laboring groups, and predelivery and postdelivery values within the pregnant groups. Pregnancy was not associated with changes in MP origin or number of TF-expressing MPs. Neither labor nor delivery was associated with changes in the percentage of trophoblast-derived MPs in the pregnant groups. The percentage of platelet-derived MPs among laboring women increased after delivery (8.5 vs. 20.5 %, p = 0.02), although there was no difference with delivery in the non-laboring group. TF expression was not associated with delivery in either laboring or non-laboring women. In conclusion, pregnancy was not associated with changes in cell origin of circulating maternal MPs or in the number of TF-expressing MPs. However, labor and delivery appear to be associated with an increase in the number of platelet-derived MPs.

Socioeconomic disparities in diagnostic testing after positive aneuploidy screening.

OBJECTIVE: The objective of this study was to investigate the association between type of health insurance (Medicaid vs. private) and uptake of diagnostic testing for fetal aneuploidy after a positive screening test result. METHODS: We performed a retrospective cohort study of pregnant women who underwent aneuploidy screening in the first and/or second trimesters of pregnancy and received positive results. The characteristics of and outcomes for women with Medicaid were compared with those of women with private insurance in both univariable and multivariable analyses. RESULTS: In this study, 75 women with Medicaid and 75 with private insurance were analyzed. Those with Medicaid were younger (33.8 vs. 36.9 years, p < 0.01), and more likely to be of non-white race/ethnicity (88 vs. 27%, p < 0.01), unmarried (65 vs. 19%, p < 0.01), non-English speaking (12 vs. 0%, p < 0.01), and multiparous (76 vs. 59%, p = 0.02). They also were less likely to undergo diagnostic testing after a positive aneuploidy screen (35 vs. 57%, p < 0.01). In multivariable analysis, those with Medicaid remained significantly less likely to undergo diagnostic testing (odds ratio, 0.26; 95% confidence interval, 0.09-0.80). CONCLUSION: Women with Medicaid are less likely than women with private insurance to undergo diagnostic testing after positive screening for aneuploidy. These results emphasize the potential importance of improved counseling for low-income women.

Biparietal diameter-to-crown-rump length disproportion in first-trimester fetuses with holoprosencephaly.

OBJECTIVES: To determine whether the biparietal diameter measurement is altered in first-trimester fetuses with holoprosencephaly. METHODS: Cases of holoprosencephaly were collected retrospectively from 4 fetal medicine centers, and first-trimester biparietal diameter measurements were reviewed. The diagnosis of holoprosencephaly was established sonographically by the detection of abnormal choroid plexus morphologic characteristics (absent "butterfly" sign) and the identification of a monoventricular cerebral cavity on axial views of the fetal brain. The proportion of fetuses with biparietal diameter measurements below the 5th percentile for crown-rump length was determined. RESULTS: Among 45 cases of holoprosencephaly reviewed, 43 had information on both biparietal diameter and crown-rump length measurements. The biparietal diameter was below the 5th percentile for crown-rump length in 14 (32.6%) fetuses. Chromosomal analysis was available in 41; no statistically significant difference in biparietal diameter measurement between those with associated chromosomal anomalies and those without anomalies was noted. A supplementary analysis using head circumference measurement showed an even greater proportion of fetuses with holoprosencephaly with measurements below the 5th percentile for crown-rump length (18 of 42 [42.9%]). CONCLUSIONS: One-third of first-trimester fetuses with a sonographic diagnosis of holoprosencephaly had a biparietal diameter that was smaller than expected for crown-rump length. In this subset of fetuses, the evaluation of intracranial anatomy for signs of holoprosencephaly may be more difficult to perform due to the smaller size of the brain. Therefore, the detection of a biparietal diameter below the 5th percentile as expected from crown-rump length on the first-trimester scan may be a warning sign of holoprosencephaly and should prompt a detailed examination of the intracranial anatomy.

First trimester screening for holoprosencephaly with choroid plexus morphology ('butterfly' sign) and biparietal diameter.

OBJECTIVE: The aim of this study was to determine whether choroid plexus morphology ('butterfly' sign) and biparietal diameter (BPD) are effective sonographic screening tools for holoprosencephaly (HPE) in the first trimester. METHODS: An axial view of the fetal head was obtained routinely to determine the presence of the 'butterfly' sign in pregnancies presenting for sonographic screening at 11-13 weeks of gestation. The same view was also used to obtain BPD measurements. The definitive diagnosis of HPE was established by the sonographic demonstration of an anterior cerebral monoventricular cavity and thalamic fusion. RESULTS: During a 9-year study period, 11 068 live fetuses were screened. There were 11 cases of HPE (prevalence 1/1006); all of them were detected by demonstration of an absent 'butterfly' sign with no false-positive cases. The BPD was less than the 5th percentile in 40% of the cases. CONCLUSIONS: The 'butterfly' sign appears to be a highly sensitive marker for HPE in the first trimester. On the other hand, BPD measurements had a lower sensitivity, implying that microcephaly is not a prominent first-trimester feature in these cases. Incorporation of the 'butterfly' sign into the first trimester anatomy scan is simple and can facilitate the identification of the vast majority of fetuses with HPE in the first trimester.

Ectopia cordis in a first-trimester sonographic screening program for aneuploidy.

We review the sonographic features, antenatal course, and perinatal outcomes in 7 cases of ectopia cordis diagnosed in the first trimester. Four cases were associated with a large omphalocele (pentalogy of Cantrell) and 2 with a body stalk anomaly. The remaining fetus had isolated thoracic ectopia cordis. Two pregnancies were terminated; 2 fetuses died in utero; 2 infants died after delivery; and 1 died at 3 months of age. We conclude that the diagnosis of ectopia cordis can easily be established during the first trimester. In agreement with the currently available literature, the prognosis of ectopia cordis in our series was uniformly poor.

Second-trimester placental location and postpartum hemorrhage.

OBJECTIVES: The purpose of this study was to assess whether low placentation in the second trimester is an independent risk factor for postpartum hemorrhage. METHODS: A retrospective cohort study of women undergoing transvaginal sonography between 18 weeks' and 23 weeks 6 days' gestation was conducted. Patients were subdivided into three groups: low-lying placenta (0.1-2.5 cm), marginal previa (touching but not overlapping the os), and complete previa (covering the os). Low placentation was used as a descriptive for all cases (low-lying placenta, marginal previa, and complete previa) in this study. A group of randomly identified control patients with normal placentation was selected for comparison. RESULTS: During the period of study, 410 women with low placentation were identified. Compared to controls, patients with second-trimester low placentation had increased rates of postpartum hemorrhage and uterotonic use. These increased risks persisted even among women in whom the low placentation resolved (odds ratio, 2.72; 95% confidence interval, 1.46-5.07; odds ratio, 2.18; 95% confidence interval, 1.24-3.84). CONCLUSIONS: Women with a second-trimester diagnosis of low placentation are at increased risk of postpartum hemorrhage.

Perinatal HIV testing and diagnosis in Illinois after implementation of the Perinatal Rapid Testing Initiative.

OBJECTIVE: The objective of the study was to assess whether implementation of a statewide initiative was associated with changes in perinatal human immunodeficiency virus (HIV) testing practices. STUDY DESIGN: This was an observational cohort study of all 1,141,799 women who delivered in Illinois birthing hospitals over a 7 year period after the introduction of the Perinatal Rapid Testing Implementation in Illinois (PRTII) initiative. Changes in the frequencies of HIV status documentation, rapid test utilization, and newborns discharged with unknown HIV status were assessed. RESULTS: The comparison of annual data from 2005 to 2011 demonstrated a 63% decrease in women with undocumented HIV status (11.7% vs 4.3%, P < .001), a 98% decrease in women with unknown status who did not receive rapid testing (29.6% vs 0.5%, P < .001), and a greater than 99% decrease in newborns with undocumented status at discharge (2.74% vs 0.01%, P < .001). CONCLUSION: This statewide initiative resulted in a significant and sustained increase in the frequency of maternal-baby pairs who were discharged from the hospital with documented HIV status.

First-trimester assessment of the fetal palate: a novel application of the Volume NT algorithm.

We describe a new technique that can facilitate the first-trimester examination of the fetal palate using the Volume NT algorithm (Samsung Medison, Seoul, Korea), a program that automatically detects the exact midsagittal plane of the head and is primarily designed for semiautomatic measurement of the nuchal translucency thickness. Three-dimensional (3D) data sets from the fetal face were captured with Volume NT and subsequently reformatted with the Oblique View software to obtain orthogonal views of the primary and secondary palate in coronal and axial planes, respectively. By testing this method in selected 3D data sets obtained retrospectively (n = 12) and prospectively (n = 28), we were able to extract clinically acceptable views of the fetal palate in all cases. This preliminary report shows that with this new 3D automation development, early evaluation of the fetal palate is feasible and reproducible and could be easily incorporated into the first-trimester sonographic protocol once its ability to detect abnormal cases is demonstrated.

Fetal magnetic resonance imaging and three-dimensional ultrasound in clinical practice: applications in prenatal diagnosis.

Three-dimensional ultrasound and magnetic resonance imaging are powerful imaging techniques that are used increasingly in evaluating fetal anatomy. In this chapter, we review the main applications of these imaging modalities in current practice and present an overview of the malformations that may benefit from assessment with three-dimensional ultrasound and magnetic resonance imaging.

Maternal factors associated with misperceptions of the second-trimester sonogram.

OBJECTIVE: Prior studies have shown that patients have poor understanding of prenatal screening tests. The purpose of this study was to evaluate the frequency with which patients have poor understanding of the sensitivity and safety of the second-trimester fetal sonogram and to identify maternal factors associated with poor understanding. METHOD: One hundred fifty-five women presenting for a routine fetal anatomy scan completed a survey that assessed their understanding of the diagnostic sensitivity and safety of ultrasound, their demographic characteristics, and the sources of information of their knowledge of ultrasound. The frequency of misperception with regard to sonographic sensitivity or safety was determined, and both univariable and multivariable analyses were performed to identify factors associated with misperception. RESULTS: Fifty-one percent of women had a misperception of the sensitivity or safety of a second-trimester sonogram. Although multiple characteristics (age, ethnicity, education, income, source of ultrasound information) were associated with this misperception in univariable analysis, only education and income remained independently associated with misperception in multivariable regression. CONCLUSION: Lower educational attainment and lower income are associated with misperception of the sensitivity and safety of a second-trimester sonogram.

Fetal magnetic resonance imaging and three-dimensional ultrasound in clinical practice: general aspects.

Ultrasonography is used routinely during pregnancy to screen and diagnose fetal anomalies. Two-dimensional ultrasound is usually adequate in women at low risk for malformations. When technical factors limit optimal evaluation or a malformation is suspected, further imaging with three-dimensional ultrasound and magnetic resonance imaging is becoming increasingly common. Three-dimensional ultrasound allows the manipulation of data acquired from two-dimensional ultrasound to recreate an infinite number of views, thereby enhancing the ability to evaluate the fetal anatomy. When three-dimensional ultrasound is either unavailable or inadequate, fetal magnetic resonance imaging permits detailed evaluation of the suspected anomaly and assesses the presence of associated anomalies. In this chapter, we review the techniques, advantages, limitations, and clinical applications of these two fetal imaging modalities.

Prenatal sonography in hydranencephaly: findings during the early stages of disease.

The purpose of this report is to describe the prenatal sonographic findings in fetuses with hydranencephaly diagnosed during the early stages of disease. Four cases with characteristics of hydranencephaly were retrospectively identified from 2 Latin American fetal medicine referral centers. Information on maternal demographics, sonographic findings, antenatal courses, and pregnancy outcomes was retrieved from the ultrasound reports and medical records. Cases were diagnosed between 21 and 23 weeks' gestation. The sonographic findings were similar in all cases and included absent cerebral hemispheres, which were replaced by homogeneous echogenic material filling the supratentorial space, and preservation of the thalami, brain stem, and cerebellum. The head circumference measurement was within the normal range, but the transverse cerebellar diameter was below the fifth percentile in 3 of the 4 cases. A follow-up scan in 1 of these cases demonstrated the classic anechoic fluid-filled appearance of hydranencephaly 2 weeks after diagnosis. Confirmation of the diagnosis was available in 2 cases, by postmortem examination in 1 and by fetal magnetic resonance imaging in the other. No further investigations were performed in the 2 women who opted for termination of pregnancy. In conclusion, during the early stages of disease, hydranencephaly is characterized by the presence of a large intracranial saclike structure containing homogeneous echogenic material, representing blood and necrotic debris secondary to massive liquefaction of the developing cerebral hemispheres.

Intracranial translucency at 11-13 weeks of gestation: prospective evaluation and reproducibility of measurements.

OBJECTIVE: This paper aimed to determine the feasibility of identification and measurement reproducibility of intracranial translucency (IT) in our population. METHODS: This is a prospective study in which five accredited operators attempted to identify and measure the IT during first-trimester sonographic screening for aneuploidy in 990 fetuses. The presence or absence of spina bifida was determined at the time of the second-trimester scan or after birth. Measurement reproducibility was assessed through intraclass correlation coefficient (ICC) on a subgroup of 150 fetuses. RESULTS: Identification and measurement of the IT were possible in 961 (97%) cases. The mean IT anteroposterior diameter was 1.8 mm (SD ± 0.37; range 0.8-3.1), and the size increased linearly with advancing gestation (IT = 0.74 + 0.02 × crown-rump length; r(2) = 0.15, p < 0.0001). The only fetus with spina bifida in this series presented with absent IT. Intra-observer and inter-observer ICCs were 0.79 and 0.75, respectively (95% confidence intervals 0.72-0.84 and 0.67-0.81, respectively; both p < 0.001). CONCLUSIONS: The IT increases linearly with increasing crown-rump length and seems to be of value in the first-trimester detection of spina bifida. It is easy to identify and measure and shows excellent intra-observer and inter-observer reproducibility measurements.

Feasibility of 3-dimensional sonographic examination of the fetal secondary palate during the second-trimester anatomy scan.

OBJECTIVES: To determine the feasibility of obtaining adequate 3-dimensional (3D) data sets to examine the fetal secondary palate during the second-trimester anatomy scan. METHODS: During a 3-month period, 3D data sets of the fetal secondary palate were obtained from consecutive women undergoing routine second-trimester scans. Only structurally normal singleton fetuses with a normal upper lip on 2-dimensional (2D) sonography were included. Three-dimensional data sets were obtained using a mechanical transducer with a 45° sweep and the same settings as for the standard 2D scan, ideally when the fetus was facing the transducer, with mild extension of the head, and the ultrasound beams projecting caudally to cranially to avoid shadowing from the primary palate or mandible. No additional scanning time was allocated for examination of the palate. Acquired 3D data sets were analyzed offline using dedicated software, and the secondary palate was assessed using the "flipped face" technique. RESULTS: Ninety-seven women met entry criteria and underwent second-trimester scans at a median gestational age of 22 completed weeks (range, 18-23 weeks). In 13 (13.4%) cases, it was not possible to obtain a midsagittal view of the face for capturing 3D volume data sets due to fetal position. Additional factors limiting visualization were shadowing from the primary palate in fetuses with flexion of the head in 30 (30.9%) cases, interposition of, or shadowing from, fetal arms or legs in 11 (11.3%), inability to reproduce a true midsagittal plane in 8 (8.2%), and poor image quality in 1 (1%). Therefore, it was only possible to assess the secondary palate in 34 (35.1%) cases. CONCLUSIONS: It is not feasible to obtain adequate 3D data sets for offline analysis of the fetal secondary palate in almost two-thirds of second-trimester fetuses during the routine scan. However, suboptimal visualization is primarily due to factors related to fetal position rather than equipment or image quality. This finding suggests that a dedicated scan, during which adequate time can be devoted to obtaining a satisfactory position in which the fetal face can be evaluated, may be warranted in high-risk cases.