Three Generations of FLNA-Associated Periventricular Nodular Heterotopia

We present a family with 3 generations of FLNA gene-associated periventricular nodular heterotopia (PVNH), with a unique presentation in a fetus with multiple neurologic malformations. Neurologic abnormalities were noted on routine fetal imaging for a 33-year-old G1P0 woman; absence of the corpus callosum and PVNH was confirmed on follow-up MRI. This prompted genetic evaluation, revealing a nonsense mutation in the FLNA gene. Familial genetic analysis and neuroimaging revealed the same variant and MRI evidence of PVNH in the fetus’s asymptomatic mother, and maternal grandmother, who had a long history of seizure disorder. Such phenotypic variability within a single family demonstrates the spectrum of PVNH and the importance of genetic counseling for patients with PVNH. This case also adds to existing literature on the rare but not unique presentation of FLNA-associated fetal malformations.

Neurological and clinical outcomes in infants and children with a fetal diagnosis of asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum

OBJECTIVE Advances in prenatal imaging have facilitated improvements in the fetal diagnosis of congenital anomalies. Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) is a constellation of congenital anomalies reported in fetal imaging. However, few data are available regarding postnatal outcomes of infants and children with a fetal diagnosis of AVID. The authors sought to report the neurodevelopmental outcomes of patients diagnosed with AVID before birth at a single institution. METHODS An institutional fetal imaging database was queried to identify cases with ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum over a 10-year study period from 2000 to 2019. Overall, 41 maternal-infant dyads who met imaging criteria for AVID were identified; medical records were reviewed for prenatal variables including gestational age at birth, perinatal complications including fetal demise, and postnatal variables including demographics, mortality, hydrocephalus diagnosis and management, epilepsy, and neurodevelopmental outcomes at 2 years or the last follow-up. RESULTS Among 41 patients, 25 (61%) were male. A slight majority of patients (55%) were born before 36 weeks of gestational age, and 27 patients (68%) were delivered via cesarean section because their head size precluded vaginal delivery. There were 8 incidences of fetal demise, 1 pregnancy was terminated, and 32 patients were born alive. Neonatal or early infant death occurred in 5 patients. Two children died during follow-up after the neonatal period (ages 7 months and 7 years). Twenty-six children survived to at least the 2-year follow-up, all of whom required treatment for hydrocephalus. Of those 26 children, 12 (46%) had a diagnosis of epilepsy, 14 (54%) could sit independently, 4 (16%) were in mainstream school, 16 (62%) had expressive language, and 7 (28%) had near-normal development without seizures. CONCLUSIONS Among 41 maternal-fetal dyads with AVID, a majority of children survived to the 2-year follow-up, although all developed hydrocephalus. Many continued to have seizures, but expressive language use, attendance at mainstream school, and near-normal development without seizures were not infrequent. These data are critical for prenatal counseling and to establish the natural history of a diagnosis with limited outcome data.

A case of prenatally diagnosed prune belly syndrome variant and congenital pouch colon in the United States: A case report

Background: Prune belly syndrome (PBS) and congenital pouch colon (CPC) are rare congenital syndromes with a low incidence in the United States (U.S.) with most CPC cases being from India. In this case report, we describe, to the best of our knowledge, the first PBS variant and CPC patient in the U.S. Case Presentation: A 30-year-old G2P0010 woman was referred to a tertiary center after an 18-week ultrasound showed a fetal abdominal mass. A prenatal MRI showed a dilated loop of bowel containing a mixture of urine and meconium, oligohydramnios, and a protuberant abdominal wall. Born at 37 weeks, the child’s physical exam was notable for a distended abdomen with thin abdominal musculature, non-palpable bilateral testes, no anal opening, and flat buttocks. Intra-operatively, a dilated cecum/ascending colon was noted with an abrupt change in caliber at the transverse colon, bilateral enlarged ureters, a left testis at the internal ring and no visualized right testis. A colostomy and mucous fistula were created 5 cm from the sigmoid pouch. Conclusion: While most reported cases of CPC undergo single stage repair (one operation) at 1 day of life, our patient underwent the first procedure of a staged repair at 16 hours of life given his clinical instability at the time as well as his unknown urological anatomy in the setting of urinary obstruction. This case demonstrates the importance of fetal imaging, multidisciplinary approach at a tertiary care center, and reinforces a staged repair when necessary.

Fetal imaging of a rare case of dural sinus malformation: a case report

Background Dural sinus malformations (DSM) are rare congenital anomalies, accounting for less than 2% of all intracranial vascular malformations. Fetal MRI plays an important role in the confirmation of the diagnosis, prognostication, and planning of treatment strategies. Here, we present a rare case of dural sinus malformation without thrombosis, diagnosed by prenatal ultrasound and fetal MRI. In addition to this, fetal intracranial 3D gradient recalled echo Dixon-based MRA was done which, to the best of our knowledge, is a first. Case presentation A 24-year-old multigravida with no known comorbidities underwent a routine second trimester anomaly scan in which an unusual posterior interhemispheric cyst was diagnosed. Further evaluation with fetal MRI revealed dilated posterior sinuses and torcula, normal internal jugular vein, and maintained flow voids with no mass effect. Fetal Dixon-based MRA and correlated Doppler revealed supply to the lesion by bilateral occipital arteries and posterior cerebral arteries. With these imaging features, a midline dural sinus malformation was diagnosed. Conclusion Dural sinus malformations should be considered in the differential diagnosis of unusual posterior fossa cystic lesions detected on antenatal ultrasound coupled with a colour Doppler examination. Prompt fetal MRI is essential to establish the diagnosis, identify intracranial complications and decide the postnatal treatment strategy, thereby possibly improving the postnatal outcome.

Personal prenatal ultrasound use by women’s health professionals: An ethical analysis

Prenatal ultrasound use is skyrocketing despite limited evidence of improved outcomes. One factor driving this trend is the widely recognized psychological appeal of real-time fetal imaging. Meanwhile, considering imperfect safety evidence, U.S. professional guidelines dictate that prenatal ultrasound—a screening test—should be governed by expected clinical benefits—an opportunity for intervention. However, when women’s healthcare professionals themselves are pregnant, their access to ultrasound technology permits informal, personal use that may deviate from standard-of-care, e.g., for reassurance. Highlighting a poignant case wherein a pregnant obstetrician’s personal ultrasound use had unforeseen negative consequences, we explore this issue within context of professional ethics and informal medical care. We discuss how women’s health professionals’ self-care may influence and inform prenatal care at large. We advocate curtailing informal prenatal ultrasound use, but also potentially broadening accepted indications for or relaxing proscriptions against ultrasounds for patients. Further research and updated, evidence-based, ethically-sound guidelines are needed.

Fetal magnetic resonance imaging in the evaluation of congenital diaphragmatic anomalies

Background Congenital abnormalities of the diaphragm cause impairment of lung development and are an important cause of post-natal morbidity and mortality. Congenital diaphragmatic eventration (CDE), a less sinister diaphragmatic anomaly compared to the more common congenital diaphragmatic hernia (CDH), often tends to mimic CDH on prenatal imaging. This study evaluates the role of fetal magnetic resonance imaging (MRI) in differentiating these two entities. Results This was a retrospective study which included fetal MRI studies done in patients with ultrasound diagnosis of fetal diaphragmatic anomaly. MRI exam was performed with a 1.5 T superconducting system with eight-element torso array coil. The images were studied by two radiologists experienced in fetal imaging in consensus. Diagnosis of CDE was made if the dome of the diaphragm was visualized as a thin hypointense line separating the lung from abdominal structures on coronal and sagittal MRI sequences. If this thin hypointense line was not visualized, a diagnosis of CDH was made. The findings were then correlated with autopsy/intra-operative findings/post-natal imaging follow-up. A total of 12 patients were included in the study. In these 12 patients, 13 diaphragmatic abnormalities were diagnosed on MRI (1 fetus had bilateral diaphragmatic anomaly). Of the 13 diaphragmatic anomalies detected, 7 (54%) were CDH and 6 (46%) were CDE. The type of diaphragmatic anomaly was correctly identified on MRI in all except one fetus in which CDE was misdiagnosed as CDH. The Fisher exact test statistic value was 0.0047. The result was significant at p < 0.01. Conclusion Fetal MRI is a useful tool for assessing congenital diaphragmatic anomalies. Visualization of the diaphragm on coronal and sagittal images helps in diagnosis of complete CDE and differentiating it from the more sinister CDH.