Ultrafast Fetal Magnetic Resonance Imaging Research Articles

Defining “liver-up”: does the volume of liver herniation predict outcome for fetuses with isolated left-sided congenital diaphragmatic hernia?

PurposeThe aim of the study was to evaluate the relationship between the degree of liver herniation and mortality or need for extracorporeal membrane oxygenation (ECMO) in isolated left-sided congenital diaphragmatic hernia (CDH). MethodsThis is a retrospective review of all fetuses with isolated left-sided Bochdalek-type CDH evaluated at our center with ultrafast fetal magnetic resonance imaging between January 2004 and December 2010. Percentage of liver herniation was defined as the ratio of herniated liver volume to total fetal liver volume. The liver/thoracic volume ratio was defined as the ratio of herniated liver volume to total thoracic volume. Data were analyzed using receiver operating characteristic curves and Fisher's Exact and Mann-Whitney U tests. ResultsFifty-three fetuses with isolated left-sided CDH were evaluated. Fetuses with “liver-up” (n = 32) and “liver-down” (n = 21) anatomy had similar rates of mortality (25% vs 14%, P = .49) and ECMO use (41% vs 29%, P = .40). The accuracy of liver-up (a dichotomous variable) to predict mortality or need for ECMO was 49% and 53%, respectively. Percentage of liver herniation greater than 21% was associated with mortality (P < .001) or need of ECMO (P < .001), with an accuracy of 87% and 79%, respectively. Liver/thoracic volume ratio of greater than 14% was also associated with mortality or ECMO use (P < .001 and P = .01, respectively), with an accuracy of 85% and 72%, respectively. ConclusionIncreased amounts of liver herniation in fetuses with isolated left-sided CDH are associated with higher rates of mortality or the need for ECMO support. Quantification of liver herniation (a continuous variable) is superior to overall liver herniation as a dichotomous variable (liver-up vs liver-down) in the prediction of perinatal morbidity and mortality.

Ultrafast MRI of the fetus: an increasingly important tool in prenatal diagnosis of congenital anomalies

Objective To demonstrate the additional utility of ultrafast magnetic resonance imaging (MRI) of the fetus in the evaluation of sonographically detected or equivocal fetal congenital anomalies. Material and Methods Twenty five pregnant women with ultrasound detected fetal congenital anomalies underwent ultrafast fetal MRI. Results MRI findings altered the diagnosis of two cases of giant arachnoid cyst and sizable interhemispheric cyst associated with agenesis of the corpus callosum. MRI added additional findings of occult spinal diastematomyelia in two out of four cases of Chiari/meningocele malformation. MRI revealed impaired sulcation and unilateral cleft palate in suspected case of Walker-Warburg syndrome. In the remaining 18 cases MRI confirmed the diagnosis of Meckel–Gruber syndrome in three cases, hydronephrosis in six cases, cerebral ventriculomegaly in five cases, isolated omphalocele in three cases and findings suggestive of aneuploidy in the last case. Conclusion Ultrasound is the screening method of choice for evaluation of the fetus. Ultrafast MRI is a complementary adjunctive modality with excellent tissue contrast that can image the fetus in multiple planes and add information in sonographically detected or equivocal congenital anomalies that may be significant to establish definitive accurate diagnosis and hence adequate management and counseling.

Prenatal Diagnosis of Monosomy 17p (17p 13.3 → pter) Associated With Polyhydramnios, Intrauterine Growth Restriction, Ventriculomegaly, and Miller-Dieker Lissencephaly Syndrome in a Fetus

To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus. A 30-year-old, primigravid woman was referred to the hospital at 31 weeks' gestation because of intrauterine growth restriction (IUGR) and polyhydramnios detected by ultrasound. The pregnancy was uneventful until 31 weeks of gestation when IUGR and polyhydramnios were first noted. Level II ultrasound at 31 weeks' gestation showed fetal biometry equivalent to 27 weeks' gestation, an amniotic fluid index of 33.4 cm, ventriculomegaly, and abnormal sulcal development with absence of gyri and sulci, and a shallow Sylvian fissure. Other organs were unremarkable. Subsequent amniocentesis revealed a 46,XY,del(17)(p13.3) karyotype. Ultrafast fetal MRI performed at 34 weeks of gestation revealed agyria/pachygyria, a figure-eight appearance of the brain, a wide and shallow Sylvian fissure, enlarged subarachnoid space, ventriculomegaly, and polyhydramnios. At 35 weeks' gestation, a 1,346-g male baby was delivered with facial dysmorphism, characteristic of MDLS. Postnatal MRI confirmed the prenatal diagnosis. Polyhydramnios, IUGR and ventriculomegaly are important prenatal ultrasound markers of MDLS. Prenatal diagnosis of these markers should include a detailed investigation of cerebral sulci and fissures, and genetic analysis for MDLS. Fetal MRI is helpful for the diagnosis of lissencephaly.

179: Ultrafast fetal magnetic resonance imaging (UF-MRI) as an adjunctive tool following prenatal ultrasound findings of top normal or mild ventriculomegaly (VM)

This study was designed to report our experience with UF-MRI following abnormal findings of top normal or mild VM by prenatal ultrasonography . Prenatal ultrasound remains the gold standard for fetal imaging and is readily available in routine obstetric care. However, MRI techniques have become more amenable to fetal imaging. UF-MRI may be considered even in the evaluation of borderline abnormal obstetric ultrasound findings.

Prenatal 3-Dimensional Sonographic Diagnosis of a Massive Fetal Epignathus Occluding the Oral Orifice and Both Nostrils at 35 Weeks' Gestation

Received July 13, 2006, from the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, State University of New York, Downstate Medical Center, Brooklyn, New York USA. Revision requested July 18, 2006. Revised manuscript accepted for publication July 19, 2006. Address correspondence to David M. Sherer, MD, Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, State University of New York, Downstate Medical Center, 445 Lenox Rd, Box 24, Brooklyn, NY 11203-2098 USA. E-mail: dmsherer@aol.com Abbreviations EXIT, ex utero intrapartum treatment; 3D, 3-dimensional n 18-year-old nulliparous patient was seen for a second opinion at the State University of New York Downstate Medical Center after the diagnosis of a fetal “neck tumor” at 35 weeks’ gestation. Real-time 2-dimensional sonography and 3-dimensional (3D) sonography (Philips Medical Systems, Bothell, WA; iU22 sonography machine with a 2to 6-MHz 3D broadband curved array transducer) depicted an appropriatefor-gestational-age singleton fetus with an 11 × 10 × 9-cm (calculated volume, 900 mL) multilobulated, semisolid, semicystic mass protruding from the oral orifice (Figures 1–3). Smaller tumors of similar consistency protruded from and completely obstructed both nostrils (Figure 3). The fetal stomach was visualized, yet polyhydramnios was suggestive of impaired (obstructed) swallowing. The fetal neck and other anatomic structures appeared normal. An epignathus (congenital teratoma) involving the oropharynx and nasopharynx was diagnosed.1 Because of the anticipated neonatal upper airway obstruction at delivery, the patient was transferred to a fetal surgery center. Ultrafast fetal magnetic resonance imaging confirmed the presence of a large, multilobulated mass in the nasopharynx, oropharynx, oral cavity, and nasal cavities projecting outside the fetus. At 36 weeks’ gestation after spontaneous rupture of membranes, a female fetus weighing 2348 g was born by cesarean delivery and a successful ex utero intrapartum treatment (EXIT) procedure (tracheotomy).2 In the early neonatal period, the tumor emanating from the oral orifice (the hard palate) was partially resected. Histopathologic examination showed a teratoma. Later, the smaller nasopharyngeal and residual oropharynx tumors were resected. The infant subsequently had swallowing and feeding difficulties and severe gastroesophageal reflux. Accordingly, gastric fundoplication and gastrostomy were planned.

The natural history of prenatally diagnosed conjoined twins

Background/Purpose: Accurate prenatal diagnosis of complex anatomic connections and associated anomalies has only been possible recently with the use of ultrasonography, echocardiography, and fetal magnetic resonance imaging (MRI). To assess the impact of improved antenatal diagnosis in the management and outcome of conjoined twins, the authors reviewed their experience with 14 cases. Methods: A retrospective review of prenatally diagnosed conjoined twins referred to our institution from 1996 to present was conducted. Results: In 14 sets of conjoined twins, there were 10 thoracoomphalopagus, 2 dicephalus tribrachius dipus, 1 ischiopagus, and 1 ischioomphalopagus. The earliest age at diagnosis was 9 weeks' gestation (range, 9 to 29; mean, 20). Prenatal imaging with ultrasonography, echocardiography, and ultrafast fetal MRI accurately defined the shared anatomy in all cases. Associated anomalies included cardiac malformations (11 of 14), congenital diaphragmatic hernia (4 of 14), abdominal wall defects (2 of 14), and imperforate anus (2 of 14). Three sets of twins underwent therapeutic abortion, 1 set of twins died in utero, and 10 were delivered via cesarean section at a mean gestational age of 34 weeks. There were 5 individual survivors in the series after separation (18%). In one case, in which a twin with a normal heart perfused the cotwin with a rudimentary heart, the ex utero intrapartum treatment procedure (EXIT) was utilized because of concern that the normal twin would suffer immediate cardiac decompensation at birth. This EXIT-to-separation strategy allowed prompt control of the airway and circulation before clamping the umbilical cord and optimized control over a potentially emergent situation, leading to survival of the normal cotwin. In 2 sets of twins in which each twin had a normal heart, tissue expanders were inserted before separation. Conclusions: Advances in prenatal diagnosis allow detailed, accurate evaluations of conjoined twins. Careful prenatal studies may uncover cases in which emergent separation at birth is lifesaving.

The role of fetal surgery in life threatening anomalies.

The development and evolution of fetal surgery and the recognition of the fetus as a patient came from two sources. First, were those obstetricians and perinatologists who detected life threatening anomalies before birth, and re-described a hidden mortality arising from death in utero. Ultrasonography, color Doppler ultrasound and ultrafast fetal magnetic resonance imaging have since enhanced the accuracy of prenatal evaluation. Second, were those pediatricians responsible for treating newborn infants with extremely serious problems, and that appeared untreatable, although, it was believed that they could have been treated at an earlier stage of development. After the natural history of several correctable lesions had been determined and the selection criteria for intervention developed, fetal surgery emerged as a means of improving the overall morbidity and mortality rates.

Prenatal diagnosis and management of congenital lobar emphysema

Background: Congenital lobar emphysema (CLE) is a rare anomaly of lung development that usually presents in the neonatal period with respiratory distress and pulmonary lobar hyperinflation. The routine use of prenatal ultrasonography has resulted in the early identification and serial evaluation of congenital lung lesions. CLE can be distinguished from other congenital lung lesions on ultrasonography by the differences in echogenicity and reflectivity. Methods: Two cases of CLE diagnosed at midgestation by ultrasonography and ultrafast fetal magnetic resonance imaging (MRI), along with serial sonographic documentation of their prenatal course were reviewed. Results: The CLE lesions decreased in size over the course of the pregnancy, similar to that seen with other congenital lung lesions such as cystic adenomatoid malformation and bronchopulmonary sequestration. However, these neonates with CLE showed marked air-trapping and respiratory distress requiring lobectomy in the early neonatal period. Conclusions: These cases provide insight into the prenatal course of CLE and underscore the need for continued postnatal evaluation of fetuses even those in whom the lesions appear to have resolved in utero. These patients should have ready access to postnatal surgical intervention. J Pediatr Surg 35:792-795. Copyright © 2000 by W.B. Saunders Company.

Open fetal surgery for life-threatening fetal malformations

After more than two decades of experimental and clinical work, fetal surgery has become an accepted treatment modality for selected fetuses with life-threatening anomalies. Color Doppler ultrasound and ultrafast fetal magnetic resonance imaging have enhanced the accuracy of prenatal evaluation traditionally made by ultrasound alone. Fetal lung masses associated with hydrops are nearly 100% fatal. These lesions can be resected in utero if they are predominantly solid or multicystic. Thoracoamniotic shunting may be effective in the setting of a single large predominant cyst. Fetuses diagnosed with left congenital diaphragmatic hernia before 26 weeks' gestation with liver herniation and a sonographic right lung to head circumference ratio (LHR) of less than one may benefit from fetal tracheal occlusion. Fetal sacrococcygeal teratoma complicated with placentomegaly, hydrops, or progressive high output heart failure may benefit from in utero resection of the tumor. Although preterm labor still remains the Achilles heel of open fetal surgery, effective tocolysis may, in the future, expand the scope of fetal surgery.

New developments in fetal lung surgery

After more than two decades of experimental and clinical work, fetal surgery has become a reasonable treatment modality for selected fetuses with life-threatening anomalies. We review the literature on anatomic anomalies of the fetal lung that are amenable to fetal surgical therapy. Ultrafast fetal magnetic resonance imaging has enhanced the accuracy of prenatal evaluation. Fetal lung masses associated with hydrops are nearly 100% fatal. These lesions can be resected in utero if they are predominantly solid or multicystic. Thoracoamniotic shunting may be effective in the setting of a single large predominant cyst. Fetuses diagnosed with left congenital diaphragmatic hernia before 26 weeks' gestation, who have liver herniation and a sonographic right lung-to-head circumference ratio of less than 1.0, may benefit from temporary fetal tracheal occlusion to enhance lung growth before birth.

New developments in fetal lung surgery.

After more than two decades of experimental and clinical work, fetal surgery has become a reasonable treatment modality for selected fetuses with life-threatening anomalies. We review the literature on anatomic anomalies of the fetal lung that are amenable to fetal surgical therapy. Ultrafast fetal magnetic resonance imaging has enhanced the accuracy of prenatal evaluation. Fetal lung masses associated with hydrops are nearly 100% fatal. These lesions can be resected in utero if they are predominantly solid or multicystic. Thoracoamniotic shunting may be effective in the setting of a single large predominant cyst. Fetuses diagnosed with left congenital diaphragmatic hernia before 26 weeks' gestation, who have liver herniation and a sonographic right lung-to-head circumference ratio of less than 1.0, may benefit from temporary fetal tracheal occlusion to enhance lung growth before birth.

Successful fetal surgery for spina bifida

Spina bifida occurs in one of 2000 livebirths and leads to lifelong and devastating physical disabilities including paraplegia, hydrocephalus, incontinence, sexual dysfunction, skeletal deformations, and mental impairment.1Copp AJ Neural tube defects.Trends Neurosci. 1993; 16: 381-383Summary Full Text PDF PubMed Scopus (29) Google Scholar Compelling experimental evidence shows that the neurological deficit associated with open spina bifida is not entirely caused by the primary defect of neurulation, but rather is due to chronic mechanical injury and amniotic fluid-induced chemical trauma that progressively damages the exposed unprotected fetal neural tissue during gestation. Timely in-utero repair of spina bifida in fetal sheep stops the ongoing spinal cord destruction and “rescues” neurological function by the time of birth.2Meuli M Meuli-Simmen C Hutchins GM et al.In utero surgery rescues neurological function at birth in sheep with spina bifida.Nat Med. 1995; 1: 342-347Crossref PubMed Scopus (293) Google Scholar In late-gestation human fetuses and in neonates with spina bifida, the neural tissue elements show severe traumatic and degenerative alterations, or there is almost complete loss of neural tissue.3Meuli M Meuli-Simmen C Hutchins GM Sellar MJ Harrison MR Adzick NS The spinal cord lesion in human fetuses with myelomeningocele: implications for fetal surgery.J Pediatr Surg. 1997; 32: 448-452Summary Full Text PDF PubMed Scopus (167) Google Scholar Sonographic reports of human fetuses with very large spina bifida lesions and normal leg movements early in gestation imply that motor function is present initially and lost only later in gestation.4Korenromp MJ Van Good JD Bruinse HW Kriek R Early fetal leg movements in myelomeningocele.Lancet. 1986; i: 917-918Abstract Scopus (123) Google Scholar We report the first successful in-utero surgical repair of open spina bifida in an early-gestation fetus. A 27-year-old woman was referred for assessment of a 23-week gestation fetus with thoracolumbosacral spina bifida. The lesion was detected on a 20-week ultrasound done because of a raised maternal serum α-fetoprotein. Serial ultrasounds showed good leg movements, and karyotype by amniocentesis was normal. Ultrafast fetal magnetic resonance imaging revealed a spina bifida lesion extending from thoracic level 11 to sacral level 1, Arnold-Chiari type II malformation, and borderline hydrocephalus (the fetal lateral ventricles measured 10 mm). The mother declined pregnancy termination and consented to surgery. Maternal general anaesthesia provided fetal anaesthesia and uterine relaxation for open fetal surgery. A low transverse maternal laparotomy and vertical hysterotomy were performed.5Adzick NS Harrison MR Fetal surgical therapy.Lancet. 1994; 343: 897-902Abstract PubMed Scopus (133) Google Scholar The cystic membrane of the spina bifida lesion was excised, and skin flaps were developed laterally to close the defect and protect the developing spinal cord (figure). Because we were concerned about possible secondary hydrocephalus after the lesion was closed, cerebrospinal fluid shunt tubing was threaded up alongside the proximal spinal cord and the slit-valve end was brought out via a separate skin wound. Amniotic fluid was replaced with warmed lactated Ringer's solution and the uterine and laparotomy wounds were closed. Postoperatively, tocolysis was maintained with magnesium sulphate intravenous infusion and indometacin rectal suppositories, followed by terbutaline given by a subcutaneous pump. The mother was discharged from hospital 5 days postoperatively. At 30 weeks' gestation, preterm labour led to the delivery by caesarean section of a 1·3 kg baby boy who required a short period of ventilatory support. The mother recovered uneventfully. The shunt tubing was removed immediately after birth. The baby showed excellent left leg function except for absent plantar flexion of the foot (L5 level). A right club foot was present, but the baby had right hip and knee flexion and extension (L4 level). Postnatal magnetic resonance imaging confirmed that the repaired spina bifida lesion extended from T11 to S1 and revealed that the Arnold-Chiari type II malformation was no longer present and there was no hydrocephalus. He has met all developmental milestones at age 6 months, but long-term follow-up is needed. Neonates with thoracolumbar spina bifida are almost invariably paraplegic and have associated hydrocephalus that requires a lifelong shunt. This case shows that early gestation fetal surgical repair of severe spina bifida can save neurological function. By arresting the neural destruction, prenatal repair may also allow rearrangements of function due to the plasticity of the developing nervous system. In addition, the resolution of the Arnold-Chiari malformation after in-utero repair suggests that this brain malformation is a secondary consequence of spina bifida. In-utero spina bifida repair may thus obviate the complications of Arnold-Chiari malformation including the need for shunt procedures after birth.