Incidence of occult cleft palate on prenatal magnetic resonance images obtained for non-cleft indications.

Prenatal diagnosis of craniofacial anomalies has improved family education and preparedness. Isolated cleft palate, however, remains difficult to identify sonographically. The aim of this study was to investigate the rate of incidental cleft palate identified on fetal magnetic resonance imaging (MRI) following the ultrasound detection of non-cleft abnormalities. This was a retrospective study of pregnant women who had fetal MRI performed between 2003 and 2017. To be included, the woman had to have been referred for fetal imaging for a non-cleft indication, with subsequent identification of an isolated cleft palate on MRI. Fetuses with a postnatal diagnosis of Robin sequence were excluded. The study sample included 30 women. Mean gestational age at MRI was 24 weeks 4 days± 38 days. Most referrals (76.7%) were for non-cleft craniofacial anomalies, of which micrognathia was the most common (63.3%). The annual incidence of occult cleft palate diagnosis was 0.4%, and a genetic syndrome was suspected based on imaging findings in 76.7%. Although rare, isolated cleft palate found incidentally on fetal imaging led to concern for a genetic syndrome in a high percentage of cases. This suggests that early referral for fetal MRI may provide critical information when sonographic fetal anomalies have been identified.

Callosal dysgenesis in fetuses with ventriculomegaly: levels of agreement between imaging modalities and postnatal outcome.

OBJECTIVE: To assess neurodevelopmental outcome of fetuses diagnosed with callosal abnormalities after referral for ventriculomegaly. METHODS: This sub-analysis of a prospective study of 430 fetuses, which were referred for ventriculomegaly and underwent sonography and magnetic resonance imaging (MRI), included those fetuses with a diagnosis of corpus callosal abnormalities after recruitment into the main study. Between three and six radiologists independently reviewed ultrasound and MR images and recorded central nervous system (CNS) abnormalities, with final diagnoses being decided by consensus. Postnatal outcomes of fetuses with callosal abnormalities were compared between those with and those without other abnormalities. RESULTS: Callosal abnormalities were detected in 13% (58/430) of the fetuses referred with ventriculomegaly. Callosal dysgenesis was isolated in 24% (14/58) of these cases, with the remainder complicated by CNS, karyotypic or other major abnormalities. Five fetuses diagnosed prenatally as having isolated callosal abnormalities had additional CNS findings on postnatal assessment. Preconference kappa for callosal abnormalities was 0.76 for ultrasound and 0.78 for MRI, indicating that these investigations had a similar level of operator dependence. Neurodevelopmental outcome was normal or showed only mild delay that resolved in 67% (8/12) children with isolated callosal abnormalities compared to 7% (2/27) in those with non-isolated callosal abnormalities (P = 0.003). CONCLUSION: Callosal abnormalities are present in a significant proportion of fetuses with a diagnosis of ventriculomegaly. Isolated callosal abnormalities are associated with normal neurodevelopmental outcome in approximately two-thirds of fetuses.

Frequency and cause of disagreements in imaging diagnosis in children with ventriculomegaly diagnosed prenatally.

OBJECTIVES: To assess the frequency and cause of variability in diagnosis on cranial sonography and magnetic resonance imaging (MRI) in children referred following prenatal diagnosis of ventriculomegaly. METHODS: Between 19 September 2003 and 16 March 2007, 119 infants with ultrasound and/or MRI studies performed within 13 months (median, 6 days) after birth, following prenatal referral for ventriculomegaly, were studied prospectively. There were 97 infants with ultrasound results and 53 with MRI, including 31 with both. Three sonologists and three pediatric neuroradiologists interpreted the postnatal ultrasound and MRI findings, blinded to prenatal diagnosis, and a final consensus diagnosis or group of diagnoses was obtained. Ventricular sizes as well as types of and reasons for any disagreement in diagnosis were recorded. Disagreements on a per patient basis were categorized as being major when they crossed diagnostic categories and had the potential to change patient counseling. Postnatal and prenatal diagnoses were compared. RESULTS: There was prospective agreement on 42/97 (43%) ultrasound and on 9/53 (17%) MRI readings. Prospective consensus was more likely when the number of central nervous system (CNS) anomalies was lower (P < 0.001 and P = 0.002 for ultrasound and MRI, respectively). In 24/55 (44%) ultrasound and 11/44 (25%) MRI examinations with disagreement in diagnosis, there was disagreement concerning the presence of ventriculomegaly. In 22/97 (23%) ultrasound studies and 22/53 (42%) MRI studies the disagreements were potentially important. Reasons for discrepancies in the reporting of major findings included errors of observation as well as modality differences in depiction of abnormalities. In comparing prenatal with postnatal diagnoses, there were 11/97 (11%) ultrasound and 27/53 (51%) MRI examinations with newly detected major findings, the most common being migrational abnormalities, callosal dysgenesis/destruction and interval development of hemorrhage. CONCLUSION: Variability in postnatal CNS diagnosis is common after a prenatal diagnosis of ventriculomegaly. This is due in part to a lack of standardization in the definition of postnatal ventriculomegaly.

Neurodevelopmental outcome of fetuses referred for ventriculomegaly.

OBJECTIVE: To characterize the delivery and postnatal neurodevelopmental outcomes of fetuses referred for ventriculomegaly (VM). METHODS: Under an internal review board-approved protocol, pregnant women were referred for magnetic resonance imaging (MRI) after sonographic diagnosis of VM and classified into one of four diagnostic groups: Group 1, normal central nervous system (CNS); Group 2, isolated mild VM (10-12 mm); Group 3, isolated VM > 12 mm; and Group 4, other CNS findings. Pregnancy outcome was obtained. Follow-up visits were offered with assessment of neurodevelopmental, adaptive and neurological functioning at 6 months and 1 year and/or 2 years of age. Atrial diameter and VM group differences in developmental outcomes were evaluated using repeated measures logistic regression and Fishers exact test, respectively. RESULTS: Of 314 fetuses, 253 (81%) were liveborn and survived the neonatal period. Fetuses in Groups 4 and 3 were less likely to progress to live delivery and to survive the neonatal period (60% and 84%, respectively) than were those in Groups 2 or 1 (93% and 100%, respectively, P < 0.001). Of the 143 fetuses followed postnatally, between 41% and 61% had a Bayley Scales of Infant Development (BSID-II) psychomotor developmental index score in the delayed range (< 85) at the follow-up visits, whereas the BSID-II mental developmental index and Vineland Adaptive Behavior composite scores were generally in line with normative expectations. Among those that were liveborn, neither VM group nor prenatal atrial diameter was related to postnatal developmental outcome. CONCLUSIONS: Diagnostic category and degree of fetal VM based on ultrasound and MRI measurements are associated with the incidence of live births and thus abnormal outcome. Among those undergoing formal postnatal testing, VM grade is not associated with postnatal developmental outcome, but motor functioning is more delayed than is cognitive or adaptive functioning.

Association of Isolated Congenital Heart Disease with Fetal Brain Maturation.

BACKGROUND AND PURPOSE: Brain MRI of newborns with congenital heart disease show signs of immaturity relative to healthy controls. Our aim was to determine whether the semiquantitative fetal total maturation score can detect abnormalities in brain maturation in fetuses with congenital heart disease in the second and third trimesters. MATERIALS AND METHODS: We analyzed data from a prospective study of fetuses with and without congenital heart disease who underwent fetal MR imaging at 25-35 weeks' gestation. Two independent neuroradiologists blinded to the clinical data reviewed and scored all images using the fetal total maturation score. Interrater reliability was evaluated by the intraclass correlation coefficient using the individual reader scores, which were also used to calculate an average score for each subject. Comparisons of the average and individual reader scores between affected and control fetuses and relationships with clinical variables were evaluated using multivariable linear regression. RESULTS: Data from 69 subjects (48 cardiac, 21 controls) were included. High concordance was observed between readers with an intraclass correlation coefficient of 0.98 (95% CI, 0.97-0.99). The affected group had significantly lower fetal total maturation scores than the control group (ß-estimate, -0.9 [95% CI, -1.5 to -0.4], P = .002), adjusting for gestational age and sex. Averaged fetal total maturation, germinal matrix, myelination, and superior temporal sulcus scores were significantly delayed in fetuses with congenital heart disease versus controls (P < .05 for each). The fetal total maturation score was not significantly associated with any cardiac, anatomic, or physiologic variables. CONCLUSIONS: The fetal total maturation score is sensitive to differences in brain maturation between fetuses with isolated congenital heart disease and healthy controls.

Prenatal detection of neuroblastoma: a ten-year experience from the Dana-Farber Cancer Institute and Children's Hospital.

OBJECTIVES: To assess the relative frequency of, the clinical and pathological correlates in, and the prognosis of the subset of infants with neuroblastoma who were identified initially by prenatal ultrasonography. DESIGN: Retrospective review of all patients with neuroblastoma evaluated between 1982 and 1992. SETTING: Large, urban, tertiary care children's hospital in Boston, Massachusetts. PATIENTS: Eleven infants with neuroblastoma initially detected with prenatal sonograms were identified. RESULTS: Nine patients had adrenal tumors; two had thoracic paraspinal tumors. Typical diagnostic evidence for neuroblastoma including a palpable abdominal mass and elevations in urinary catecholamines were not commonly seen postnatally. These patients had multiple favorable prognostic indicators including low stage of disease (10/11), favorable biological markers including cellular DNA content (5/5) and N-myc oncogene copy number (5/5), and histopathology suggestive for neuroblastoma in situ (7/11). All patients were treated by surgical resection. One patient exhibited progression of disease postoperatively, but demonstrated a complete clinical response to multiagent chemotherapy. Overall survival in our population was excellent with no deaths seen at a mean follow-up of 37 months (range 3 to 120 months). CONCLUSIONS: Patients with neuroblastoma identified by prenatal ultrasonography generally, although not exclusively, follow a clinically favorable course in which surgical resection is curative. Chemotherapy is not indicated unless substantial progression of disease occurs.

Abnormal karyotype of fetuses with omphalocele: prediction based on omphalocele contents.

The majority of fetuses with omphalocele have other congenital abnormalities and, in many cases, an abnormal karyotype. We retrospectively studied 22 consecutive fetuses with sonographically diagnosed omphalocele and available karyotype to determine whether the contents of the omphalocele could predict the karyotype. Of these 22 fetuses, 18 had normal and four had abnormal karyotypes. Sixteen of the karyotypically normal fetuses had liver herniated into the omphalocele and two had only bowel present in the defect. All four of the fetuses with abnormal chromosomes had only bowel in the defect.

Fetal pyelectasis: a possible association with Down syndrome.

Two hundred ten consecutive fetuses were identified as having renal pyelectasis among 7400 patients scanned during 1 year. Seven of these 210 fetuses had Down syndrome. We reviewed images of the kidneys of 44 fetuses with Down syndrome collected over 5 years and found that 25% of these affected fetuses had pyelectasis. The incidence of Down syndrome was 3.3% when fetal pyelectasis was present.

Is fetal hyperechoic bowel on second-trimester sonogram an indication for amniocentesis?

OBJECTIVE: To determine the clinical significance of hyperechoic bowel seen sonographically in second-trimester fetuses. METHODS: Fifty fetuses (0.6%) with echogenic bowel were identified sonographically from a population of 8680 consecutive second-trimester fetuses over 21 months. The fetal bowel was considered hyperechoic if its echogenicity was similar to that of surrounding bone. Follow-up was obtained through medical record review. RESULTS: Twenty-nine of 50 fetuses (58%) were normal; eight (16%) were aneuploid, including six Down syndrome, one trisomy 13, and one Turner syndrome. All eight fetuses with aneuploidy had sonographic anomalies in addition to the echogenic bowel. Eight of 50 fetuses (16%) were growth-retarded, and five others (10%) had normal karyotypes but are still undelivered. Among the eight growth-retarded fetuses, there were five intrauterine or neonatal deaths, one elective abortion, and two survivors. In addition, the six fetuses with Down syndrome and echogenic bowel represented 12.5% of all second-trimester Down syndrome fetuses karyotyped in our laboratory during the study period. Combining results from the present study (six Down syndrome fetuses) with three studies from the literature (21 additional Down syndrome fetuses), a total of 27 fetuses with echogenic bowel and Down syndrome were identified, 11 (40.7%) of whom had no other sonographic findings. We calculate that if 1,000,000 second-trimester fetuses were scanned, 5105 would have hyperechoic bowel as the only finding, of whom 71 would have Down syndrome and 5034 would not. The risk of Down syndrome in fetuses with isolated hyperechoic bowel is, therefore, 71 in 5105 or 1.4%. CONCLUSION: The finding of isolated hyperechoic bowel in the second trimester should prompt genetic counseling and consideration of karyotypic analysis.

Emergency obstetric and gynecologic ultrasound.

In conclusion, sonography plays a central role in imaging the obstetric and gynecologic emergencies of babies, girls, and adolescents. Transabdominal and transvaginal sonography each have their respective and combined strengths, which depend on the age, size, anatomy, and social and clinical situation of the patient to be imaged. With recent advances in sonographic technology, especially in the current use of higher-frequency transducers and the promise of three-dimensional imaging, we are undoubtedly seeing more anatomy and pathology, and seeing it more clearly. In the sexually mature patient, transvaginal sonography provides an exceptional view of the normal uterus and adnexae and the myriad presentations of pelvic pathology. This article has reviewed the sonographic techniques that can be used in imaging the pediatric and adolescent pelvis, and has emphasized some of the many pathologic conditions that can be elucidated by pelvic sonography.

Neurological complications of hemolytic-uremic syndrome.

Of 78 children identified with hemolytic-uremic syndrome at the Children's Hospital, Boston, from 1976 to 1986, 16 patients (20.5%) had neurological manifestations during their hospitalization. The most common manifestations were significant alterations in consciousness (coma, stupor) in 12 patients, and either generalized or partial seizures in ten patients. Others included hemiplegia (4 patients), decerebrate posturing (3), cortical blindness (2), hallucinations (1), and dystonic posturing (1). Cranial computed tomographic scans were abnormal in eight of 11 patients scanned. The abnormalities included diffuse cerebral edema (4 patients), large vessel infarctions (3), diffuse multiple small infarcts (4), and multiple hemorrhages (1). Five patients died as a result of their central nervous system complications, and six had neurological sequelae at discharge. Five patients recovered and at discharge had no evidence of neurological dysfunction.

Prenatal neurosurgical diagnosis and counseling.

Neonatal neurosurgical management occasionally begins with prenatal counseling. New imaging techniques have made the detection and diagnosis of structural anomalies of the fetal central nervous system commonplace. The neurosurgeon can be called on to interpret the meaning of diagnostic studies and must be ready to meet this emerging challenge. The most frequently encountered antenatal diagnoses are reviewed here, with a special emphasis on ultrasound and MR image findings.

Altered fetal cerebral and cerebellar development in twin-twin transfusion syndrome.

BACKGROUND AND PURPOSE: Neurodevelopmental disability is common in twins with TTTS in utero; however, the responsible neuropathology remains uncertain. We proposed to document the frequency of brain abnormalities on clinical fetal MR images and to determine if quantitative fetal brain biometric analysis in twin fetuses with TTTS was different from those in healthy control fetuses. MATERIALS AND METHODS: We reviewed the fetal brain MR images of 33 twin pairs with TTTS clinically evaluated in our institution. Eighteen fetal MR images of "healthy" twins with TTTS were further studied with biometric analysis in comparison with GA-matched singleton fetuses to detect quantitative differences in brain growth and development. RESULTS: A higher incidence of anomalies (11/33, 33.3%) was found than previously reported. The most frequent abnormality was ventriculomegaly (7/11, 63%) in both donor and recipient. In "healthy" twins with TTTS, biometric analysis revealed persistently small measurements (cBTD, CMT, TCD, and VAPD) in the donor cerebrum and cerebellum in comparison with their recipient cotwin and healthy control fetuses. These differences were preserved when normalized by cBTD. CONCLUSIONS: Our findings show that significant brain abnormalities are common in TTTS. In addition, diffuse subtle abnormalities are also present in normal-appearing donor fetal brains that cannot be solely explained by overall growth restriction. Such subtle fetal brain anomalies may explain the high incidence of poor long-term neurodevelopmental outcomes of survivors, and they need to be further investigated with more sophisticated quantitative fetal imaging methodologies.

Fetal MR imaging evidence of prolonged apparent diffusion coefficient decrease in fetal death.

We report 2 fetal MR imaging cases at 22 wkGA with cerebral bright DWI and low ADC, 8 and 19 days after documented fetal death. These observations illustrate that decreased diffusion can be present weeks after injury onset, and its presence cannot be used to time injury onset within 1 week, which could significantly impact determination of the proximate cause of fetal brain injury in future cases.

Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome.

We present a case of Fryns' syndrome diagnosed prenatally using three-dimensional (3D) ultrasonography and magnetic resonance imaging (MRI). A cleft of the soft palate was diagnosed using 3D thick-slice ultrasonography. Other sonographic findings included a right diaphragmatic hernia, enlarged echogenic kidneys and severe polyhydramnios. The detection of the cleft palate was instrumental in suggesting the diagnosis of Fryns' syndrome in a fetus which also had a diaphragmatic hernia. These findings were also demonstrated with prenatal MRI. The technique of imaging the soft palate en face using a thick-slice technique is presented.

Fetal umbilical vein varix: sonographic appearance and postnatal outcome.

We describe five cases of dilation or varix of the umbilical portion of the left portal vein appearing as a fetal intra-abdominal cyst. Doppler or color flow examination, or both, indicated umbilical venous flow within the cystic area in each case. Only one fetus exhibited transient cardiomegaly, which resolved before birth. This fetus was the only one discovered to have the varix as early as the second trimester. All five infants were delivered at term without sequelae.

Increased renal parenchymal echogenicity in the fetus: importance and clinical outcome.

Pre- and postnatal ultrasound (US) findings and clinical course in 19 fetuses (16-40 menstrual weeks) with hyperechoic kidneys (renal echogenicity greater than that of liver) and no other abnormalities detected with US were evaluated to determine whether increased renal parenchymal echogenicity in the fetus indicates renal disease. Four infants (21%) were healthy at birth and had normal postnatal sonograms. Another 10 infants (53%) survived, but abnormalities were found at neonatal US. Postnatal diagnoses in these 10 neonates included unilateral renal dysplasia (n = 3), unilateral multicystic dysplastic kidney and a contralateral hyperechoic kidney (n = 2), hydronephrosis (n = 2), and renal abnormalities of unknown type (n = 3). Five fetuses with either infantile polycystic kidney disease (n = 4) or bilateral multicystic dysplasia (n = 1) did not survive. Oligohydramnios was predictive of a poor prognosis. Hyperechoic renal parenchyma in the fetus was associated with sonographic or functional abnormalities in 15 of 19 cases (79%) and a 74% survival rate.

Dandy-Walker variant: prenatal sonographic features and clinical outcome.

The Dandy-Walker variant is a less severe posterior fossa anomaly than the classic Dandy-Walker malformation. In 17 consecutive fetuses, the Dandy-Walker variant was diagnosed at sonography, and associated defects, karyotypic anomalies, and outcomes were evaluated. Four of the 17 fetuses (24%) had mild ventriculomegaly. Eight of the 17 (47%) had concurrent non-central nervous system (CNS) anomalies. Five fetuses (29%) had an abnormal karyotype (two with trisomy 18, one each with trisomy 13, 21, and 11q+) and associated sonographic anomalies. Six of the 17 fetuses (35%) died in utero or during the neonatal period, two are severely handicapped, and the other nine are developing normally at ages 4 months to 4 years. Six of the nine normally developing infants (53%) lacked non-CNS sonographic findings. Because the prognosis is uncertain for an infant born with the prenatal diagnosis of Dandy-Walker variant, prenatal recognition of the anomaly allows for the option of fetal karyotyping and for arrangement for postnatal follow-up.

Fetal meconium peritonitis without sequelae.

Meconium peritonitis is a chemical peritonitis usually resulting from antenatal bowel rupture. Prenatal ultrasound findings include ascites, intraabdominal masses, bowel dilatation and the development of intraabdominal calcifications [1-5]. The most common bowel disorders which lead to meconium peritonitis in utero are those resulting in bowel obstruction and perforation, such as small bowel atresias, volvulus and meconium ileus [1-5]. Meconium ileus is associated with cystic fibrosis in most cases, although extraluminal abdominal calcifications are usually scarce in cases of cystic fibrosis [1, 6]. Postnatal outcome for infants with meconium peritonitis depends on the etiology for bowel rupture and underlying disease.