Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings. One case presented with non-immune hydrops fetalis and a horseshoe kidney and was found to have a de novo heterozygous variant in ACTB (c.158A>G). The second case presented with gastroschisis, bilateral cleft lip and palate, and oligohydramnios, and was found to harbor a different de novo variant in ACTB (c.826G>A). Limited reports exist describing prenatally identified anomalies that include fetal growth restriction, increased nuchal fold, bilateral hydronephrosis, rocker bottom foot, talipes, cystic hygroma, omphalocele, and hydrops fetalis. In addition, only three of these cases have included detailed prenatal imaging findings. The two prenatal cases presented here demonstrate an expansion of the prenatal phenotype of BWCFF to include gastroschisis, lymphatic involvement, and oligohydramnios, which should each warrant consideration of this diagnosis in the setting of additional anomalies.

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Oculocerebrorenal syndrome (Lowe syndrome) is a rare X-linked disorder affecting 1/500,000 males that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi-type renal dysfunction. Lowe Syndrome is caused by hemizygous loss of function variants in the OCRL gene. While individuals may live into the third and fourth decade of life, some will die in the first few years of either renal failure or infection. While early diagnosis is important, few cases have documented the prenatal phenotype of this condition, which has included bilateral cataracts and variable neurological abnormalities. We report a case of a family with an extensive history of congenital cataracts, immune compromise, and neonatal death in male members. The fetus was found to have a unilateral cataract, mild ventriculomegaly, vertebral anomalies, and an underlying diagnosis of Lowe Syndrome with a mutation in OCRL at c.2582-1G>C (IVS23-1G>C).

Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome.

BACKGROUND: Enlarged cavum septum pellucidum (CSP) and hypoplastic thymus are proposed extra-cardiac fetal markers for 22q11.2 deletion syndrome. We sought to determine if they were part of the fetal phenotype of our cohort of fetuses with 22q11.2 deletion syndrome. METHODS: Case-control study of fetuses evaluated from 2016 to 2022. The study group included fetuses with laboratory confirmation of 22q11.2 deletion syndrome. The control group included pregnancies with conotruncal cardiac anomalies with normal microarray as well as structurally normal fetuses with normal microarray. The CSP and thymus were routinely measured during anatomical ultrasound in all patients at their initial visit at 27.1 ± 4.7 weeks. The CSP and thymus measurements were classified as abnormal if they were >95% or <5% for gestational age, respectively. The groups were compared using analysis of variance or Kruskal-Wallis for continuous variables and Fisher's exact test for categorical variables. Logistic regression was performed, and a Receiver Operating Characteristic (ROC) curve was constructed. RESULTS: We identified 47 fetuses with 22q11.2 deletion syndrome and compared them to 47 fetuses with conotruncal anomalies and normal microarray and 47 structurally normal fetuses with normal microarray. 51% (24/47) of fetuses with 22q11.2 deletion syndrome had an enlarged CSP compared to 6% (3/47) of fetuses with a conotruncal anomaly and normal microarray and none of the structurally normal fetuses (p < 0.001). Of the fetuses with 22q11.2 deletion syndrome, 83% (39/47) had a hypoplastic or absent thymus compared to 9% (4/47) of the fetuses with a conotruncal anomaly and normal microarray and none of the structurally normal fetuses (p < 0.001). 87% (41/47) of the fetuses with 22q11.2 deletion syndrome had conotruncal cardiac anomalies. Logistic regression revealed that both enlarged CSP and hypoplastic/absent thymus were associated with 22q11.2 deletion syndrome. The area under the ROC curve for the two markers was 0.94. CONCLUSION: An enlarged CSP and hypoplastic/absent thymus appear to be part of the fetal phenotype of 22q11.2 deletion syndrome. These markers are associated with conotruncal anomalies in the setting of 22q11.2 deletion syndrome but not in normal controls or fetuses with conotruncal defects and normal microarrays.

Immediate postdelivery airway management of neonates with prenatally diagnosed micrognathia: A retrospective observational study.

INTRODUCTION: Micrognathic neonates are at risk for upper airway obstruction, and many require intubation in the delivery room. Ex-utero intrapartum treatment is one technique for managing airway obstruction but poses substantial maternal risks. Procedure requiring a second team in the operating room is an alternative approach to secure the obstructed airway while minimizing maternal risk. The aim of this study was to describe the patient characteristics, airway management, and outcomes for micrognathic neonates and their mothers undergoing a procedure requiring a second team in the operating room at a single quaternary care children's hospital. METHODS: This was a retrospective descriptive study. Subjects had prenatally diagnosed micrognathia and underwent procedure requiring a second team in the operating room between 2009 and 2021. Collected data included infant characteristics, delivery room airway management, critical events, and medications. Follow-up data included genetic testing and subsequent procedures within 90 days. Maternal data included type of anesthetic, blood loss, and incidence of transfusion. RESULTS: Fourteen deliveries were performed via procedure requiring a second team in the operating room during the study period. 85.7% were male, and 50% had a genetic syndrome. Spontaneous respiratory efforts were observed in 93%. Twelve patients (85.7%) required an endotracheal tube or tracheostomy. Management approaches varied. Medications were primarily a combination of atropine, ketamine, and dexmedetomidine. Oxygen desaturation was common, and three patients experienced bradycardia. There were no periprocedural deaths. Follow-up at 90 days revealed that 78% of patients underwent at least one additional procedure, and one patient died due to an unrelated cause. All mothers underwent cesarean deliveries under neuraxial anesthesia. Median blood loss was 700 mL [IQR 700 mL, 800 mL]. Only one mother required a blood transfusion for pre-procedural placental abruption. DISCUSSION: Procedure requiring a second team in the operating room is a safe and effective approach to manage airway obstruction in micrognathic neonates while minimizing maternal morbidity. CONCLUSIONS: Though shown to be safe and effective, more data are needed to support the use of procedure requiring a second team in the operating room as an alternative to ex-utero intrapartum treatment for micrognathia outside of highly specialized maternal-fetal centers.

Predictors of Poor Outcomes in Monochorionic Diamniotic Twin Pregnancies Complicated by Selective Fetal Growth Restriction.

INTRODUCTION: The aim of the study was to identify predictors of poor outcomes in monochorionic diamniotic twin (MCDA) pregnancies with selective fetal growth restriction (sFGR), irrespective of the umbilical artery (UA) Doppler abnormalities. METHODS: Single-center retrospective analysis of MCDA twins diagnosed with sFGR that opted for expectant management between 2010 and 2021. The presence of any of the following variables in the growth-restricted fetus: low amniotic fluid volume (DVP ≤2 cm), lack of a cycling bladder, absent or reversed flow in the ductus venosus (DV) with atrial contraction, and elevated middle cerebral artery peak systolic velocity (MCA-PSV) defined as ≥1.50 multiples of the median was categorized as complicated. sFGR cases were classified as simple in the absence of the above-mentioned variables. RESULTS: Overall, 63.3% of cases qualified as simple, and 36.7% were complicated. Intertwin EFW discordance was higher in the complicated category (26 vs. 33%, p = 0.0002). The median gestational age at delivery was earlier (33 weeks vs. 30.5 weeks, p = 0.002), and the likelihood of survival was lower in the complicated category (p < 0.0001). The likelihood of two survivors to discharge was lower in type I complicated cases (70% in complicated type I vs. 97.1% in simple type I, p = 0.0003). On logistic regression analysis, an increase in the "complicated" score negatively correlated with two survivors to discharge (p < 0.0001). An ROC curve was created, and the AUC was 0.79. Increasing intertwin EFW discordance also decreased the probability of two survivors to discharge. CONCLUSION: The presence of oligohydramnios, lack of a cycling bladder, abnormal DV Doppler, and elevated MCA-PSV in the growth restricted fetus is associated with poor perinatal outcomes and a lower likelihood of having two survivors to discharge. The addition of intertwin EFW discordance to these variables helped improve the survival predictability.

A clinical outcomes data archive for a comprehensive fetal diagnosis and treatment center.

INTRODUCTION: Data on near and long-term outcomes are critical for the care of all maternal-fetal patients presenting to a fetal center. This is important since physiologic and neurodevelopmental attributes do not manifest until childhood when multi-level factors influence health outcomes. Electronic health records (EHR) documentation structures are not designed for acquisition of key attributes, and changes over time and between-clinician differences can affect resultant output. Therefore, EHR derived datasets have limited ability to accurately characterize the clinical presentation and care trajectory of patients with congenital anomalies. Moreover, the fetus lacks a digital identity and requires relinking attributes documented in the maternal chart to those in the pediatric EHR. This conundrum amplifies in the setting of multiple gestation, returning maternal patients, and pregnancies with fetal demise. Current data systems result in incomplete abstraction of variables that may confound, mediate, or moderate critical associations. Our objective was to develop and implement a prospective data capture platform to transform EHR data into an analytic-grade database for multi-purpose use. METHODS: A unified platform for longitudinal follow-up of maternal-child dyads named the Clinical Outcomes Data Archive (CODA) was constructed. CODA was designed using a data dictionary based on multidisciplinary input, a relational identity for each patient, fetus, and pregnancy, and a process by which EHR-sourced and chart-abstracted data are validated. Descriptive analyses were performed for data acquired between July 2022 - July 2023, and a comparison of studies before and after implementation of CODA is presented. CONCLUSION: 5,394,106 data points were validated for 7,662 patients across 12 conditions. 2% of data points were found to be unreliable or undocumented. 91% of data points were sourced from the EHR. 85% of condition-specific variables required manual chart abstraction. The study conducted with CODA contributed to 18 studies. CODA successfully merges EHR-sourced and manually abstracted documentation for longitudinal study of the maternal-child dyad.

Neonatal Outcomes of Multiple Congenital Thoracic Lesions.

INTRODUCTION: Congenital pulmonary airway malformations (CPAM), intra- and extralobar bronchopulmonary sequestrations (iBPS/eBPS), CPAM-BPS hybrid lesions (HL), congenital lobar emphysema (CLE), bronchial atresia (BA), and foregut duplication cysts (FDC), collectively referred to as congenital thoracic lesions (CTL), are mostly solitary. Patients with multiple CTL are rare, and reports on such cases are scarce. To address this dearth, we analyzed a large multifocal CTL patient cohort. METHODS: Retrospective chart review of patients born between September 1, 2013, and March 31, 2023, who underwent surgery for a CTL at our tertiary center. Patients with radiological and surgical diagnosis of multifocal CTL, defined as ≥2 CTL present in more than one lobe were included to record pre-, peri-, and postnatal patient characteristics. RESULTS: Among 701 CTL patients, 74 (10.5%) had multiple CTL. CTL multifocality was prenatally recognized correctly in 8 (12.9%) patients. Most multiple CTL were right-sided, unilateral multilobar lesions (n = 33, 44%). Bilateral CTL were found in 9 (12.1%) patients. CPAM-CPAM lesions were the most prevalent CTL types (n = 36, 49%). Genetic syndromes were confirmed in 3 (4%) and additional congenital anomalies in 9 (12.9%) patients, 5 of those had multiple congenital anomalies. Of 49 (65%) patients with multilobar CTL, 25 (51%) underwent bilobectomy and 24 (49%) lung-sparing surgery. Length of stay was similar. Mortality was 5.4%. CONCLUSION: We report on the largest patient cohort with multiple CTL to date. Multiple CTL occurred in 1/10 patients with CTL, and only 12.9% were recognized prenatally. Lung-sparing surgery can be considered. Multiple additional congenital anomalies and genetic syndromes may be more common and genetic testing should be considered. Overall, outcomes in this patient population are favorable.

Update on Management and Outcomes of Congenital Diaphragmatic Hernia.

Infants with congenital diaphragmatic hernia (CDH) benefit from comprehensive multidisciplinary teams that have experience in caring for the unique and complex issues associated with CDH. Despite prenatal referral to specialized high-volume centers, advanced ventilation strategies and pulmonary hypertension management, and extracorporeal membrane oxygenation, mortality and morbidity remain high. These infants have unique and complex issues that begin in fetal and infant life, but persist through adulthood. Here we will review the literature and share our clinical care pathway for neonatal care and follow up. While many advances have occurred in the past few decades, our work is just beginning to continue to improve the mortality, but also importantly the morbidity of CDH.

Tethered cord release in patients after open fetal myelomeningocele closure: intraoperative neuromonitoring data and patient outcomes.

PURPOSE: The purpose of the study was to better understand the clinical course and impact of tethered cord release surgery on patients who have previously undergone open spinal dysraphism closure in utero. METHODS: This is a single-center retrospective observational study on patients undergoing tethered cord release after having previously had open fetal myelomeningocele (MMC) closure. All patients underwent tethered cord release surgery with a single neurosurgeon. A detailed analysis of the patients' preoperative presentation, intraoperative neuromonitoring (IONM) data, and postoperative course was performed. RESULTS: From 2009 to 2021, 51 patients who had previously undergone fetal MMC closure had tethered cord release surgery performed. On both preoperative and postoperative manual motor testing, patients were found to have on average 2 levels better than would be expected from the determined anatomic level from fetal imaging. The electrophysiologic functional level was found on average to be 2.5 levels better than the anatomical fetal level. Postoperative motor levels when tested on average at 4 months were largely unchanged when compared to preoperative levels. Unlike the motor signals, 46 (90%) of patients had unreliable or undetectable lower extremity somatosensory evoked potentials (SSEPs) prior to the tethered cord release. CONCLUSION: Tethered cord surgery can be safely performed in patients after open fetal MMC closure without clinical decline in manual motor testing. Patients often have functional nerve roots below the anatomic level. Sensory function appears to be more severely affected in patients leading to a consistent motor-sensory imbalance.

Fetal thoracic teratomas: mediastinal or pericardial?

BACKGROUND: Mediastinal and pericardial teratomas have overlapping imaging features that may make accurate prenatal diagnosis challenging. OBJECTIVE: To identify prenatal imaging features that may aid in distinguishing between mediastinal and pericardial teratomas. MATERIALS AND METHODS: Prenatally diagnosed pericardial and mediastinal teratomas evaluated at our fetal center from 1995 to 2020 were included in this Institutional Review Board-approved study. Lesion volume was calculated using prospectively reported ultrasound (US) measurements and the formula of a prolate ellipsoid, which was then normalized to head circumference. Prenatal US and magnetic resonance imaging (MRI) studies were anonymized with two fetal imagers reviewing the US studies and two different fetal imagers reviewing the MRI studies. These experienced reviewers scored location of the mass in the craniocaudal axis and in the transverse axis. MRI reviewers also scored the presence of inferior cardiac compression by the lesion and whether there was identifiable thymic tissue. Reviewer disagreements were resolved by consensus review. RESULTS: Eleven pericardial teratomas and 10 mediastinal teratomas were identified. All cases underwent detailed fetal anatomic US and fetal echocardiogram and 10/11 (91%) pericardial teratomas and 8/10 (80%) mediastinal teratomas underwent fetal MRI. Median volume was higher for mediastinal teratomas compared to pericardial teratomas (42.5 mL [interquartile range (IQR) 15.9 - 67.2 mL] vs. 8.1 mL [IQR 7.7 - 27.7 mL], P=0.01) and median volume/head circumference was also statistically higher in mediastinal teratomas (1.33 [IQR 0.78 - 2.61] vs. 0.43 [IQR 0.38 - 1.10], P=0.01). Logistic regression analysis demonstrated a statistical difference between teratoma types with respect to location in the craniocaudal axis by both modalities with mediastinal teratomas more commonly located in the upper and upper-middle thorax compared to pericardial teratomas, which were more commonly found in the middle thorax (US, P=0.03; MRI, P=0.04). Logistic regression analysis also demonstrated a statistical difference between teratoma types with respect to position along the transverse axis by both modalities with mediastinal teratomas more commonly located midline or left paramedian and pericardial teratomas more often right paramedian in location (US, P<0.01; MRI, P=0.02). Inferior cardiac compression observed by MRI was associated more commonly with mediastinal teratomas compared to pericardial teratomas (87.5% [7/8] vs. 10% [1/10], P<0.01). Identifiable thymus by MRI was more commonly observed in cases of pericardial teratomas, however, this difference was not statistically significant (P=0.32). CONCLUSION: Mediastinal teratomas are associated with larger lesion size and inferior cardiac compression when compared to pericardial teratomas. These features combined with lesion location in the craniocaudal and transverse axes may allow for more accurate prenatal diagnosis and optimal perinatal and surgical management.

Risks of Single Fetal Demise after Laser for Twin-Twin Transfusion Syndrome.

INTRODUCTION: The aim of the study was to determine if markers of donor placental insufficiency and recipient cardiac dysfunction increase the risk for single fetal demise (SFD) after laser for twin-twin transfusion syndrome (TTTS). METHODS: Single-center retrospective review of patients who had laser for TTTS. Risk factors for donor and recipient demise within 1 week were compared in pregnancies with SFD and pregnancies with dual survival using χ2 or Fisher's exact test. Multivariate logistic regression was then performed. RESULTS: Of 398 procedures, 305 (76.6%) had dual survival, 36 (9.0%) had donor demise, 28 (7.0%) had recipient demise, and 9 (2.3%) had dual demise. The remaining 20 (5.0%) patients had complicated courses with pregnancy loss or further intervention. In the 64 pregnancies with SFD, 29 (81%) in the donor group and 20 (71%) in the recipient group occurred in the first postoperative week. For the donor demise group, estimated fetal weight (EFW) <10%, EFW <3%, EFW <1%, EFW discordance >25%, and EFW discordance >30% did not increase the risk for donor demise except in cases that also had umbilical artery absent or reversed end diastolic flow (AREDF). Donor AREDF was the only independent risk factor for early donor demise. For the recipient demise group, recipient abnormal venous Dopplers were associated with increased risk while EFW discordance >25% was associated with decreased risk of recipient loss. DISCUSSION/CONCLUSION: In our cohort, donor growth restriction did not increase the risk of early donor demise after laser unless there was also donor AREDF. Donor AREDF was an independent risk factor for donor demise likely due to the severity of placental insufficiency. Abnormal recipient venous Doppler indices increased the risk of early recipient loss while a large intertwin discordance decreased the risk. This may be explained by profound overload in cases with recipient abnormal venous Doppler velocimetry and a lower risk of substantial fluid shifts from a relatively smaller donor territory when there is a large discordance.

Predicting neonatal outcomes in infants with giant omphalocele using prenatal magnetic resonance imaging calculated observed-to-expected fetal lung volumes.

OBJECTIVE: To examine the association between prenatal magnetic resonance imaging (MRI) based observed/expected total lung volume (O/E TLV) and outcome in neonates with giant omphalocele (GO). METHODS: Between 06/2004 and 12/2019, 67 cases with isolated GO underwent prenatal and postnatal care at our institution. MRI-based O/E TLVs were calculated based on normative data from Meyers and from Rypens and correlated with postnatal survival and morbidities. O/E TLV scores were grouped based on severity into <25% (severe), between 25% and 50% (moderate), and >50% (mild) for risk stratification. RESULTS: O/E TLV was calculated for all patients according to Meyers nomograms and for 49 patients according to Rypens nomograms. Survival for GO neonates with severe, moderate, and mild pulmonary hypoplasia based on Meyers O/E TLV categories was 60%, 92%, and 96%, respectively (p = 0.04). There was a significant inverse association between Meyers O/E TLV and risk of neonatal morbidities (p < 0.05). A similar trend was observed with Rypens O/E TLV, but associations were less often significant likely related to the smaller sample size. CONCLUSION: Neonatal outcomes are related to fetal lung size in isolated GO. Assessment of Meyers O/E TLV allows identification of GO fetuses at greatest risk for complications secondary to pulmonary hypoplasia.

Fetal ultrasound and magnetic resonance imaging: a primer on how to interpret prenatal lung lesions.

Fetal lung lesions include common lesions such as congenital pulmonary airway malformation (CPAM), bronchopulmonary sequestration (BPS) and combined CPAM-BPS hybrid lesions, as well as less common entities including congenital lobar emphysema/obstruction, bronchial atresia, bronchogenic cysts and rare malignant pulmonary lesions such as pleuropulmonary blastoma. Fetal lung lesions occur in approximately 1 in 15,000 live births and are thought to arise from a spectrum of abnormalities related to airway obstruction and malformation, with the lesion type depending on the timing of insult, level of bronchial tree involvement, and severity of obstruction. Lesions vary from small and asymptomatic to large and symptomatic with significant mass effect on surrounding structures. Accurate diagnosis and characterization of these anomalies is crucial for guiding patient counseling as well as perinatal and postnatal management. The goal of this review is to provide an overview of normal fetal lung appearance and imaging features of common and uncommon lesions on both ultrasound and MR imaging, and to discuss key aspects in reporting and evaluating the severity of these lesions.

Two's Company: Multiple Thoracic Lesions on Prenatal US and MRI.

BACKGROUND: Congenital pulmonary airway malformations (CPAM), bronchopulmonary sequestrations (BPS), and CPAM-BPS hybrid lesions are most commonly solitary; however, >1 lung congenital lung lesion may occur. OBJECTIVES: To assess the frequency of multiple congenital thoracic anomalies at a high-volume referral center; determine prenatal ultrasound (US) and magnetic resonance imaging (MRI) features of these multifocal congenital lung lesions that may allow prenatal detection; and determine the most common distribution or site of origin. METHODS: Database searches were performed from August 2008 to May 2019 for prenatally evaluated cases that had a final postnatal surgical diagnosis of >1 congenital lung lesion or a lung lesion associated with foregut duplication cyst (FDC). Lesion location, size, echotexture, and signal characteristics were assessed on prenatal imaging and correlated with postnatal computed tomographic angiography and surgical pathology. -Results: Of 539 neonates that underwent surgery for a thoracic lesion, 35 (6.5%) had >1 thoracic abnormality. Multiple discrete lung lesions were present in 19 cases, and a lung lesion associated with an FDC was present in 16. Multifocal lung lesions were bilateral in 3 cases; unilateral, multilobar in 12; and, unilobar multisegmental in 4. Median total CPAM volume/head circumference ratio for multifocal lung lesions on US was 0.66 (range, 0.16-1.80). Prenatal recognition of multifocal lung lesions occurred in 7/19 cases (36.8%). Lesion combinations were CPAM-CPAM in 10 cases, CPAM-BPS in 5, CPAM-hybrid in 2, hybrid-hybrid in 1, and hybrid-BPS in 1. Of 5 unilateral, multifocal lung lesions, multifocality was prenatally established through identification of a band of normal intervening lung or intrinsic differences in lesion imaging features. CONCLUSIONS: Although less common, multiple thoracic abnormalities can be detected prenatally. Of multifocal lung lesions, the most common combination was CPAM-CPAM, with a unilateral, multilobar distribution. Prenatal recognition is important for pregnancy counseling and postnatal surgical management.

Novel Computerized Analytic Technique for Quantification of Amniotic Fluid Volume in Fetal MRI.

OBJECTIVE. Fetal MRI is increasingly used in the evaluation of suspected congenital anomalies. Assessment of amniotic fluid volume (AFV) is crucial, but no automated quantitative technique is currently available for MRI. The purpose of this study was to develop and evaluate an analytic technique for quantifying AFV in fetal MRI. MATERIALS AND METHODS. Two MRI phantoms containing known quantities of synthetic amniotic fluid were created. A 3D steady-state free precession sequence was used for 1.5-T MRI of the phantoms and as part of a standard clinical fetal MRI protocol. Software was developed and used to retrospectively calculate AFV for the phantom and 20 clinical MRI examinations. Times to completion were recorded. AFV was also calculated by a manual hand-tracing method. To evaluate performance, paired t tests were used to compare computer-generated measurements with known phantom volumes. Intraclass correlation coefficients were calculated to assess agreement between computer-generated and manual measurements. RESULTS. There was no significant difference between computer-generated measurements of known AFV in the MRI phantoms (p > 0.11). When the software program was applied to the clinical MRI examinations, the mean time to complete AFV measurement was 110 seconds. There was excellent reliability between total AFV calculated by the two software users and by means of manual measurements (intraclass correlation coefficient, 0.995; p < 0.01). CONCLUSION. The computerized analysis evaluated in this study rapidly and accurately quantifies AFV in fetal MRI. The results are concordant with known phantom volumes and manual measurements. The technique is promising for objective MRI evaluation of AFV and has the potential to improve prenatal diagnosis and management.

Congenital Lobar Overinflation: A Rare Enigmatic Lung Lesion on Prenatal Ultrasound and Magnetic Resonance Imaging.

OBJECTIVES: To report the ultrasound (US) features in prenatal cases of suspected congenital pulmonary airway malformation or unspecified lung lesions with a final surgical pathologic diagnosis of congenital lobar overinflation (CLO). METHODS: Institutional Review Board-approved radiology and clinical database searches from 2001 to 2017 were performed for prenatally diagnosed lung lesions with a final diagnosis of CLO. All patients had detailed US examinations in addition to magnetic resonance imaging (MRI). Size, echotexture, and vascularity were assessed with US, and the signal and vascularity were assessed with MRI. Follow-up prenatal US scans, postnatal imaging, and postnatal outcomes were reviewed. RESULTS: The study population consisted of 12 patients. The median gestational age was 23.3 weeks. The median congenital pulmonary airway malformation volume-to-head circumference ratio was 0.66. Lesion locations were 6 in the lower lobes (4 right and 2 left), 5 in the upper lobes (3 left and 2 right), and 1 in the right middle lobe. The texture was homogeneously echogenic relative to the normal lung in 100% with no visualized macrocysts. Hypervascularity by color Doppler US was observed in 5 cases (41.7%). A T2 hyperintense lung lesion was identified by MRI in 12 of 12 cases (100%), with elongated vessels identified in 11 of 12 cases (91.7%). All 12 cases had pathologically proven CLO. CONCLUSIONS: Congenital lobar overinflation should be considered in cases of prenatal echogenic lung lesions without macrocysts or classic findings of bronchial atresia. Hypervascularity may be an important imaging feature of a subset of CLO. Most cases become less conspicuous, decrease in size without overt hydrops, and are asymptomatic postnatally.

Secondary Imaging Findings Aid in Prenatal Diagnosis and Characterization of Congenital Diaphragmatic Hernia: Role of an Abnormal Orientation of Vascular Structures and Gallbladder Position.

OBJECTIVES: To determine whether an abnormal orientation of the abdominal or hepatic vasculature and an abnormal gallbladder position on prenatal ultrasound (US) imaging are associated with intrathoracic liver herniation and postnatal outcomes in cases of congenital diaphragmatic hernia (CDH). METHODS: Children who underwent prenatal US examinations and postnatal CDH repair at our institution were eligible. Prenatal US images were reviewed, and the orientation of the superior mesenteric artery (SMA) and hepatic veins as well as gallbladder position were recorded. Findings were correlated with prenatal US measurements (lung-to-head ratio and calculated observed-to-expected lung-to-head ratio) and postnatal outcomes, including intrathoracic liver herniation, an extracorporeal membrane oxygenation (ECMO) requirement, and mortality. RESULTS: A total of 175 patients met inclusion criteria. The SMA was shown in 168 cases and had a cephalad orientation in 95.4% (161 of 168), which was not associated with outcome measures and represented bowel herniation. A cephalad orientation of the hepatic veins was identified in 52.6% (90 of 171) and was associated with intrathoracic liver herniation, an ECMO requirement, and mortality (P < .01). In right-sided CDH, the gallbladder was intrathoracic in 91.3% (21 of 23). In left-sided CDH, an abnormal gallbladder position was seen in 51.3% (76/152) and was associated with intrathoracic liver herniation, an ECMO requirement, mortality, and lower lung-to-head ratio and observed-to-expected lung-to-head ratio values. When combined, abnormal hepatic vein and gallbladder positions showed good sensitivity and specificity in predicting intrathoracic liver herniation (area under the curve, 0.93). CONCLUSIONS: Abnormal SMA, hepatic vein, and gallbladder positions can be used to improve prenatal characterization of CDH. Accurate depiction of these structures on prenatal US images may aid in patient counseling and postnatal management.

Congenital diaphragmatic hernia sacs: prenatal imaging and associated postnatal outcomes.

BACKGROUND: The presence of a hernia sac in congenital diaphragmatic hernia (CDH) has been reported to be associated with higher lung volumes and better postnatal outcomes. OBJECTIVE: To compare prenatal imaging (ultrasound and MRI) prognostic measurements and postnatal outcomes of CDH with and without hernia sac. MATERIALS AND METHODS: We performed database searches from January 2008 to March 2017 for surgically proven cases of CDH with and without hernia sac. All children had a detailed ultrasound (US) examination and most had an MRI examination. We reviewed the medical records of children enrolled in our Pulmonary Hypoplasia Program. RESULTS: Of 200 cases of unilateral CDH, 46 (23%) had hernia sacs. Cases of CDH with hernia sac had a higher mean lung-to-head ratio (LHR; 1.61 vs. 1.17; P<0.01), a higher mean observed/expected LHR (0.49 vs. 0.37; P<0.01), and on MRI a higher mean observed/expected total lung volume (0.53 vs. 0.41; P<0.01). Based on a smooth interface between lung and herniated contents, hernia sac or eventration was prospectively questioned by US and MRI in 45.7% and 38.6% of cases, respectively. Postnatally, hernia sac is associated with shorter median periods of admission to the neonatal intensive care unit (45.0 days vs. 61.5 days, P=0.03); mechanical ventilation (15.5 days vs. 23.5 days, P=0.04); extracorporeal membrane oxygenation (251 h vs. 434 h, P=0.04); decreased rates of patch repair (39.0% vs. 69.2%, P<0.01); and pulmonary hypertension (56.1% vs. 75.4%, P=0.03). CONCLUSION: Hernia sac is associated with statistically higher prenatal prognostic measurements and improved postnatal outcomes. Recognition of a sharp interface between lung and herniated contents may allow for improved prenatal diagnosis; however, delivery and management should still occur at experienced quaternary neonatal centers.

High Tumor Volume to Fetal Weight Ratio Is Associated with Worse Fetal Outcomes and Increased Maternal Risk in Fetuses with Sacrococcygeal Teratoma.

OBJECTIVE: Tumor volume to fetal weight ratio (TFR) > 0.12 before 24 weeks has been associated with poor outcome in fetuses with sacrococcygeal teratoma (SCT). We evaluated TFR in predicting poor fetal outcome and increased maternal operative risk in our cohort of SCT pregnancies. METHODS: This is a retrospective, single-center review of fetuses seen with SCT from 1997 to 2015. Patients who chose termination of pregnancy (TOP), delivered elsewhere, or had initial evaluation at > 24 weeks were excluded. Receiver operating characteristic (ROC) analysis determined the optimal TFR to predict poor fetal outcome and increased maternal operative risk. Poor fetal outcome included fetal demise, neonatal demise, or fetal deterioration warranting open fetal surgery or delivery < 32 weeks. Increased maternal operative risk included cases necessitating open fetal surgery, classical cesarean delivery, or ex utero intrapartum treatment (EXIT). RESULTS: Of 139 pregnancies with SCT, 27 chose TOP, 14 delivered elsewhere, and 40 had initial evaluation at > 24 weeks. Thus, 58 fetuses were reviewed. ROC analysis revealed that at ≤24 weeks, TFR > 0.095 was predictive of poor fetal outcome and TFR > 0.12 was predictive of increased maternal operative risk. CONCLUSION: This study supports the use of TFR at ≤24 weeks for risk stratification of pregnancies with SCT.

What Is New in Prenatal Skeletal Dysplasias?

OBJECTIVE: The purpose of this article is to discuss advances in imaging and diagnosis of skeletal dysplasias. CONCLUSION: Skeletal dysplasias are a heterogeneous group of disorders affecting bone and cartilage and characterized by abnormal shape, growth, and integrity of the skeleton. These disorders may be inherited in a multitude of genetic patterns-autosomal dominant, autosomal recessive, somatic mosaic, imprinting errors of metabolism, X-linked, and teratogenic exposure. Most are monogenic diseases. The prenatal diagnosis is challenging; the findings are first seen during routine ultrasound.