Revisiting MOMS criteria for prenatal repair of spina bifida: upper gestational-age limit should be raised and assessment of prenatal motor function rather than anatomical level improves prediction of postnatal function.

OBJECTIVES: To determine if the lower-extremity neurological motor function level in fetuses with open spina bifida deteriorates within the 4-week interval between a first prenatal motor assessment at around 22 weeks of gestation and a second evaluation, prior to 'late' prenatal surgery, defined as surgery at 26-28 weeks and, in certain situations, up to 30 weeks, and to assess the association between prenatal presurgical motor-function level, anatomical level of the lesion and postnatal motor-function level. METHODS: This was a two-center cohort study of 94 singleton fetuses with open spina bifida which underwent percutaneous repair using the skin-over-biocellulose for antenatal fetoscopic repair (SAFER) technique between December 2016 and January 2022. All women underwent two prenatal systematic ultrasound evaluations, approximately 4 weeks apart, with the second one being performed less than 1 week before surgery, and one postnatal evaluation via physical examination within 2 months of birth. Motor-function classification was from spinal level T12 to S1, according to key muscle function. Each leg was analyzed separately; in case of discrepancy between the two legs, the worst motor-function level was considered for analysis. Motor-function-level evaluations were compared with each other and with the anatomical level as observed on ultrasound. Independent predictors of a postnatal reduction in motor-function level were assessed using a logistic regression model. RESULTS: Prenatal motor-function level was assessed at a median gestational age of 22.5 (interquartile range (IQR), 20.7-24.3) and 26.7 (IQR, 25.4-27.3) weeks, with a median interval of 4.0 (IQR, 2.4-6.0) weeks. The median gestational age at surgery was 27.0 (IQR, 25.9-27.6) weeks and the postnatal examination was at median age of 0.8 (IQR, 0.3-5.4) months. There was no significant difference in motor-function level between the two prenatal evaluations (P = 0.861). We therefore decided to use the second prenatal evaluation for comparison with postnatal motor function and anatomical level. Overall, prenatal and postnatal motor function evaluations were significantly different from the anatomical level (preoperative assessment, P = 0.0015; postnatal assessment, P = 0.0333). Comparing prenatal with postnatal motor-function level, we found that 87.2% of babies had similar or improved motor function compared with that prior to prenatal surgery. On logistic regression analysis, lower anatomical level of defect and greater difference between anatomical level and prenatal motor-function level were identified as independent predictors of postnatal motor function (odds ratio, 0.237 (95% CI, 0.095-0.588) (P = 0.002) and 3.44 (95% CI, 1.738-6.813) (P < 0.001), respectively). CONCLUSIONS: During a 4-week interval between first ultrasound evaluation and late fetal surgical repair of open spina bifida, motor function does not change significantly, suggesting that late repair, ≥ 26 weeks, does not impact negatively on motor-function outcome. Compared with the anatomical level of the lesion, preoperative neurological motor-function assessment via ultrasound is more predictive of postnatal motor function, and should be included in preoperative counseling. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Biocellulose patch technique for fetoscopic repair of open spina bifida in twin pregnancy.

OBJECTIVES: Twin pregnancy is currently an exclusion criterion for prenatal repair of open spina bifida (OSB). The main objective of this study was to report on our experience of treating twin pregnancies with OSB using the skin-over-biocellulose for antenatal fetoscopic repair (SAFER) technique. We also discuss reconsideration of the current exclusion criteria for fetal OSB repair. METHODS: Eight fetuses with OSB from seven twin pregnancies underwent successful prenatal repair. Six pregnancies were dichorionic diamniotic with only one twin affected, and one was monochorionic diamniotic with both twins affected. Percutaneous fetoscopy was performed under CO2 insufflation of the sac of the affected twin. Neurosurgical repair was performed using a biocellulose patch to protect the placode, with the skin sutured to hold the patch in place, with or without a myofascial flap. Neurodevelopment was assessed using the pediatric evaluation of disability inventory scale in babies older than 6 months of adjusted age, whereas the Alberta scale was used for babies younger than 6 months of adjusted age. RESULTS: All 14 fetuses were liveborn and none required additional repair. Gestational age at surgery ranged from 27.3 to 31.1 weeks, and gestational age at birth ranged from 31.6 to 36.0 weeks. Four out of eight affected twins developed sepsis, but had a good recovery. No sequela of prematurity was found in any of the unaffected twins. Short-term neurodevelopment was normal in all evaluated unaffected twins (5/5) and in all but one affected twins (7/8). In the affected group, only one baby required ventriculoperitoneal shunt placement. CONCLUSIONS: Prematurity is frequent after fetal surgery, and the risk is increased in twin pregnancy. Nevertheless, prenatal surgery using the SAFER technique is feasible, with low risk to both twins and their mother when performed by a highly experienced team. Long-term cognitive assessment of the unaffected twin is needed. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Rare manifestations of alobar holoprosencephaly and the potential causes: a report of two cases.

Holoprosencephaly is a rare and possibly fatal neural tube defect represented by complete or partial forebrain noncleavage. It can be classified into four types: alobar, semilobar, lobar, and middle interhemispheric fusion variant. It is usually diagnosed through prenatal ultrasound or after birth by visually observing the morphological abnormalities and/or through neurological screening. Potential causes include maternal diabetes, alcoholism, infections during pregnancy, drugs, and genetic causes. Case presentation: Herein, we report two cases of holoprosencephaly's rarest manifestations, albeit cebocephaly in the first case, and cyclopia with a probocis in the second. Cebocephaly, (hypotelorism with a single nostril and a blind-ended nose) was present in the first case; a Syrian newborn girl for a 41-year-old mother who works in collecting Capparis spinosa, and cyclopia with skull vault absence and posterior encephalocele in the second case; a Syrian newborn girl for a 26-year-old mother, the parents here where second-degree relatives. Conclusions: Early diagnosis through ultrasound is preferred in such cases and management options should be assessed and discussed with the parents due to poor prognosis. Adherence to pregnancy follow-up programs is essential to detect malformations and disorders as early as possible, especially when risk factors exist. Also, this paper may suggest a potential correlation between C. spinosa and holoprosencephaly. Therefore, we suggest that more research should be done.

Teaching and training the total percutaneous fetoscopic myelomeningocele repair.

Skin-over-biocellulose for Antenatal Fetoscopic Repair (SAFER) is a recently developed technique for fully percutaneous fetoscopic repair of myelomeningocele. The formation of a neo-dura mater triggered by the use of a biocellulose patch over the placode obviates the need of primary repair of fetal dura mater, and seems to further improve neurodevelopmental outcome. Insufflation of humidified carbon dioxide into the amniotic cavity requires proper training and a different equipment set from those used in the classic "under-water" fetoscopy. To shorten the learning curve of novice teams, we have developed a structured training course encompassing three critical steps: (1) visiting the proctor center, (2) selection of the first case, and (3) on-site training of the surgical team. Upon the site arrival, there will be: (1) theoretical lecture for all specialists involved in the fetal care, (2) simulation training, and (3) surgical proctoring. Proctor team can take over the surgery if the local team cannot complete. This training course has been successfully used in five different countries: Israel, Chile, Italy, USA and England and all local teams are already performing surgeries solo without any failures or maternal morbidity. Teaching new procedures in fetal medicine is challenging, because of the small number of candidate cases, and the direct relation of good outcomes and the number of cases operated. This proposed training modules may be adopted by other teams that want to embark on this type of novel minimally invasive treatment.

Multi-level sagittally cleft vertebrae: a case report and review of the literature.

The term "sagittal cleft vertebra" (SCV) denotes a rare embryologically derived longitudinal defect within the vertebral body, which is clinically and radiologically challenging to diagnose in isolation. This defect results in two hemivertebrae, which ossify discordantly, ultimately leading to a sagittal cleft through the vertebral body. Often presenting with low back pain or concomitant with an associated syndromic illness, SCV is often found incidentally and can mimic vertebral compression fractures radiographically. Treatment of SCV has largely been conservative and symptomatic. With only 109 reported cases in the current literature, we present a unique case of multiple SCV throughout the thoracolumbar region in an adolescent patient. We performed a review of the literature to identify published cases of SCV to date. We searched PUBMED using the terms "sagittal cleft vertebrae", "butterfly vertebrae", and "anterior rachischisis". Abstracts were screened for reports specifically involving original cases of SCV. Given the well-established association with syndromic illnesses, finding an SCV warrants further investigation for other abnormalities of the musculoskeletal, cardiac, and genitourinary systems. Complex management strategies are rare unless the SCV is associated with an aberrant syndrome, disc herniation or severe musculoskeletal abnormality, or symptomatic disc herniation requiring surgical management. Further studies should focus on uncovering the genetic markers leading to the cleft vertebral bodies, with a focus on early screening and monitoring of patients who could be predisposed to the condition.

Butterfly Vertebrae: A Systematic Review of the Literature and Analysis.

STUDY DESIGN: Systematic review (Level 4). OBJECTIVE: To summarize the demographics, clinical presentations, and conditions associated with butterfly vertebrae. METHODS: A systematic search was performed of multiple databases. A total of 279 articles were identified for screening. Case series or case reports of butterfly vertebrae with adequate clinical detail were complied. RESULTS: Eighty-two total articles (109 patients) were selected for final inclusion. Sixty-one percent of patients presented with a single butterfly vertebra, while 39% were multiple. The most common location for butterfly vertebrae was T1. Fifty-six percent of cases were associated with a syndrome, the most common being spondylocostal dysostosis. The presence of multiple butterfly vertebra was strongly associated with a syndrome or additional anomalies (P < .001). Overall, the most common presenting complaint was low back pain. Seventy percent of patients had associated spinal disease. Other organ systems affected included musculoskeletal (43%), craniofacial (30%), neurologic (27%), cardiovascular (24%), genitourinary (23%), gastrointestinal (22%), laboratory abnormality (16%), and endocrine (9%). CONCLUSIONS: This study is the largest collection of butterfly vertebrae cases to date. Butterfly vertebrae are associated with spinal deformity and multiple butterfly vertebrae may indicate a syndromic illness. Low back pain or disc herniation may occur with lumbar butterfly vertebrae however the etiology of this phenomena has not been rigorously explained. Many diseases and syndromes are associated with butterfly vertebrae.

Endoscopic fetal surgery for neural tube defects.

Prenatal repair of open spina bifida reduces shunt rates and may improve postnatal motor and neurodevelopmental outcomes. The hysterotomy required for the open fetal surgery leaves subsequent pregnancies at risk of uterine rupture. Hysterotomy site rupture confers significant morbidity and mortality risks for both mother and fetus. Fetoscopic repair is feasible and seems to achieve at least the same, postnatal neurological outcomes as those of the open repair. Fetoscopy can be accomplished by a laparotomy-based approach, or it can be entirely percutaneous. Thus far, the laparotomy-based approach leads to less PPROM and higher gestational age of delivery than the percutaneous-based one. However, the percutaneous approach is being modified, and outcomes are continuing improving, now delivery reached 35 weeks. Surgical techniques for the repair of the defect are not yet standardized, and the type of defect repair may affect long-term outcomes, especially regarding neurogenic bladder and cord tethering. The role of open fetal surgery in the management of spina bifida may be restricted to selected cases in the near future.

Rare association of cyclopia with craniospinal rachischisis.

Cyclopia is a severe form of holoprosencephaly which results in children being born with just one eye, absence of nose and presence of a proboscis above the median eye. Incidence of cyclopia is around 1.05 in 1, 00,000 births, including stillbirths. The association of anencephaly with spinal rachichisis varies from 17-50%. However, the existence of cyclopia with anencephaly and spinal rachischisis has been reported only in 9 cases till date. We report one more case of cyclopia with anencephaly and spinal rachischisis. Awareness of this spectrum of association with cyclopia, albeit rare, will help in early antenatal diagnosis by fetal ultrasonography. Public education and strict adherence to folic acid supplementation can prevent this unfortunate anomaly.

Sacral butterfly vertebrae in the setting of a sacral fracture and unstable pelvic ring injury: A case report and review of the literature.

Butterfly vertebrae are rare developmental anomalies representing failure of formation of the vertebral body. There have only been 8 previous reports of a butterfly vertebra occurring at S1. This is the first described case of a butterfly vertebra presenting with a sacral fracture and pelvic ring injury.

Percutaneous fetoscopic closure of large open spina bifida using a bilaminar skin substitute.

OBJECTIVE: We have described previously our percutaneous fetoscopic technique for the treatment of open spina bifida (OSB). However, approximately 20-30% of OSB defects are too large to allow primary skin closure. Here we describe a modification of our standard technique using a bilaminar skin substitute to allow closure of large spinal defects. The aim of this study was to report our clinical experience with the use of a bilaminar skin substitute and a percutaneous fetoscopic technique for the prenatal closure of large OSB defects. METHODS: Surgery was performed between 24.0 and 28.9 gestational weeks with the woman under general anesthesia, using an entirely percutaneous fetoscopic approach with partial carbon dioxide insufflation of the uterine cavity, as described previously. If there was enough skin to be sutured in the midline, only a biocellulose patch was placed over the placode (single-patch group). In cases in which skin approximation was not possible, a bilaminar skin substitute (two layers: one silicone and one dermal matrix) was placed over the biocellulose patch and sutured to the skin edges (two-patch group). The surgical site was assessed at birth, and long-term follow-up was carried out. RESULTS: Percutaneous fetoscopic OSB repair was attempted in 47 consecutive fetuses, but surgery could not be completed in two. Preterm prelabor rupture of membranes (PPROM) occurred in 36 of the 45 (80%) cases which formed the study group, and the mean gestational age at delivery was 32.8 ± 2.5 weeks. A bilaminar skin substitute was required in 13/45 (29%) cases; in the remaining 32 cases, direct skin-to-skin suture was feasible. There were 12 cases of myeloschisis, of which 10 were in the two-patch group. In all cases, the skin substitute was located at the surgical site at birth. In five of the 13 (38.5%) cases in the two-patch group, additional postnatal repair was needed. In the remaining cases, the silicone layer detached spontaneously from the dermal matrix (on average, 25 days after birth), and the lesion healed by secondary intention. The mean operating time was 193 (range, 83-450) min; it was significantly longer in cases requiring the bilaminar skin substitute (additional 42 min on average), although the two-patch group had similar PPROM rate and gestational age at delivery compared with the single-patch group. Complete reversal of hindbrain herniation occurred in 68% of the 28 single-patch cases and 33% of the 12 two-patch cases with this information available (P < 0.05). In four cases there was no reversal; half of these occurred in myeloschisis cases. CONCLUSIONS: Large OSB defects may be treated successfully in utero using a bilaminar skin substitute over a biocellulose patch through an entirely percutaneous approach. Although the operating time is longer, surgical outcome is similar to that in cases closed primarily. Cases with myeloschisis seem to have a worse prognosis than do those with myelomeningocele. PPROM and preterm birth continue to be a challenge. Further experience is needed to assess the risks and benefits of this technique for the management of large OSB defects. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Rare Case of "Diprosopus Bicephalous Triophthalmus" and Review of Literature.

Diprosopus is a rare congenital anomaly, characterized by partial or complete duplication of the craniofacial structure. It constitutes 0.4% of all congenital anomalies. Complete duplications are invariably associated with systemic anomalies. Here, we present such a case of diprosopus with complete duplication of face in a 24-week-old male fetus, associated with anencephaly and spinal rachischisis. Proposed theory of embryogenesis and associated anomalies are also discussed.

Two Cases of Craniospinal Rachischisis Totalis: Role of Magnetic Resonance Imaging in Diagnosis and Review of Neural Tube Defects in the Indian Context with Implications for Folate Fortification.

Craniospinal rachischisis is a rare and severe form of neural tube defects (NTDs), which is always fatal. It is characterized by anencephaly accompanied by a bony defect of the spine and exposure of neural tissue. We describe the two patients with ultrasonographic and magnetic resonance imaging appearance of craniospinal rachischisis totalis, detected antenatally at 22 and 25 weeks of gestation, and confirmed after termination of pregnancy. The multifactorial etiology of NTDs, with specific reference to folate deficiency, is discussed with possible role of folate fortification in the Indian context.

An increase in spina bifida cases in Tunisia, 2008-2011.

BACKGROUND: The term spina bifida refers to a group of neural tube defects that result in malformations of the spinal cord and the surrounding vertebrae. Though the etiologies of spina bifida remain largely unknown, several risk factors have been identified, including feto-maternal characteristics. AIM OF THE STUDY: To discover possible underlying reasons for the increase of spina bifida and identify intervention targets, an investigation was undertaken comparing spina bifida-affected pregnancy notifications in 2008-2011 with notifications in the period 1991-1994. METHODS: Characteristics and outcomes of births with spina bifida and pregnancy characteristics of mothers were recorded in the medical chart. Comparisons of pregnancies affected by a spina bifida in 2008-2011 were made with pregnancies affected by a spina bifida in the period 1991-1994. Statistical analysis was undertaken using Poisson regression and Chi-squared tests. RESULTS: From 1991 through 1994, the prevalence of identified spina bifida cases was equal to 0.3/10,000 births compared to 1.6/10,000 births in 2008-2011. This increase was statistically significant (P<0.001). The prevalence of females was equal to 0.45 per 10,000 births over the period 1991-1994 compared to 1.88 per 10,000 births during the period 2008-2011. As for males, the prevalence was equal to 0.16 per 10,000 births in 1991-1994 compared to 1.88 in 2008-2011. The difference was statistically significant (P<0.001) between both genders. A mother's age of over 30 years had significant impact on the emergence of spina bifida (P=0.02, OR=3.93, CI=1.23-12.47). As well as, maternal blood type was a significant risk factor for the appearance of spina bifida (P=0.008). Results also had shown that fetal weight and term, gestity and parity were significant risk factors for the occurrence of spina bifida (P<0.05).In this study, results have been interpreted with caution due to analyses not being adjusted. CONCLUSION: This analysis highlighted areas where prevention efforts should be strengthened and surveillance data improved.

Rachischisis totalis without acrania in a newborn male.

BACKGROUND: Rachischisis totalis is a rare open neural tube defect often associated with lethal acrania. When acrania is not present, mortality remains high and morbidity for survivors is extreme. PATIENT: We describe is a term newborn with in-utero diagnosed rachischisis totalis without acrania and Chiari II malformation with subsequent hydrocephalus. RESULTS: At birth, clinical examination revealed rachischisis totalis without acrania. The spinal defect extended from the mid-cervical to the lower sacral vertebrae. Serial cranial ultrasonography and brain MRI revealed Chiari II malformation with severe hydrocephalus. The spinal defect was closed and a ventriculoperitoneal shunt placed to relieve the hydrocephalus. The clinical course was complicated by significant central apnea, often necessitating aggressive resuscitation and chest compressions. The infant has survived with expected severe developmental delay but has graduated from hospice care. CONCLUSION: This report demonstrates that survival with variable function and quality of life is possible with severe open neural tube defects. A multidisciplinary team approach including family-centered care must be used early to overcome the many ethical challenges that such patients present.

Back to the debate: sternalis muscle / Volver al debate: músculo esternal

The sternalis muscle (SM) is an anatomical variant found in the anterior thoracic wall. While the attachment sites of SM are generally agreed upon, the innervation and function of this muscle are not well established. Cadaveric and surgical explorations to date report that SM is innervated by either the pectoral nerves or the anterior branches of the intercostal nerves, or a combination of both. Knowledge of SM is relevant to health care providers specialising in imaging and/or surgery of the anterior thoracic wall. This paper aims to raise awareness in the medical community of the clinical relevance of SM through two case reports and a brief literature review.

El músculo esternal (ME) es una variante anatómica en la pared torácica anterior. Mientras que los sitios de fijación del ME estan acordados, la inervación y la función de este músculo no están bien establecida. Exploraciones cadavéricas y quirúrgicas han informado que el ME está inervado por los nervios pectorales o ramos anteriores de los nervios intercostales, o una combinación de ambos. El conocimiento del SE es relevante para los proveedores de atención de salud especializada de imágenes y/o cirugía de la pared torácica anterior. Este documento tiene como objetivo crear conciencia en la comunidad médica de la relevancia clínica de ME a través de dos reportes de caso y una breve revisión bibliográfica.