Prenatal Diagnosis of Sharp‐Angled Lumbosacral Kyphosis With Myelomeningocele and Spina Bifida in a Fetus

Cho, Fu-Nan; Kan, Yuen-Yee; Yang, Tsung‐Lung; Huang, Hsiu-Ping; Hsu, Pei-Hua; Tai, Ming-Hong

doi:10.7863/jum.2004.23.8.1115

Cited by 7 publications

(4 citation statements)

References 12 publications

(12 reference statements)

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“…The sharp-angled form of kyphosis develops in the MMC fetus as a result of abnormal positioning of the paraspinal muscles. The mechanism of abnormal positioning of the paraspinal muscles as a cause of sharp-angled kyphosis was noted by Cho et al [41] as a result of a case they reported. Pathological examination of the abortus showed no evidence of abnormal formation of the vertebral bodies or abnormal segmentation.…”

Section: Intrinsic Spinal Abnormalities Associated With Spinal Dysrapmentioning

confidence: 95%

The Diagnostic Features of Spina Bifida: The Role of Ultrasound

Coleman

Langer

Horii³

2014

Fetal Diagn Ther

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Myelomeningocele (MMC) is one of the most devastating, nonlethal congenital anomalies worldwide. The live birth prevalence of MMC changed dramatically in the 1980s with the introduction of maternal serum screening and the widespread use of prenatal ultrasound imaging. The high-resolution ultrasound affordable today with state-of-the-art equipment allows us to make a very accurate diagnosis of MMC, including details related to the entire fetal central nervous system. Ultrasound can accurately localize the site of the osseous and soft tissue defects. Congenital spinal defects can be characterized definitively as open or closed, which are treated very differently with in utero repair, which is done in some cases, compared to only conservative follow-up with postnatal therapy for occult defects. Additional findings of kyphosis, scoliosis and anomalous vertebrate and associated conditions such as cervical syrinx can be identified. The state of the intracranial structures, including the presence or absence of ventriculomegaly and hindbrain herniation, as well as unexpected complications such as intracranial hemorrhage can be diagnosed. The severity of neurological compromise in some fetuses can be estimated by detailed examination of the lower extremities. As well as searching for talipes, we also now routinely characterize flexion and extension motions at the hip, knee and ankle joints. The information provided by ultrasound plays a crucial role, now more than ever, in patient counseling and pregnancy management. This article emphasizes how we utilize ultrasound in the evaluation of patients with suspected MMC at the Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia.

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Section: Intrinsic Spinal Abnormalities Associated With Spinal Dysrapmentioning

confidence: 95%

The Diagnostic Features of Spina Bifida: The Role of Ultrasound

Coleman

Langer

Horii³

2014

Fetal Diagn Ther

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“…frequently associated with open dysraphisms. 43,65 It refers to the abnormal angulation of the spine in the sagittal plane (Figure 7). Severity assessment of the kyphosis is an important point to select candidates for fetal surgery since kyphosis ≥30°was considered an exclusion criterion for the MOMS trial in most centers.…”

Section: Kyphosis Is Another Abnormality Of the Spinal Column Anomalymentioning

confidence: 99%

Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN

Guilbaud,

Carreras,

Garel

et al. 2024

Prenatal Diagnosis

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Open dysraphisms, that is, myelomeningocele and myeloschisis, are rare diseases associated with a risk of severe disability, including lower limb motor and sensory deficiency, sphincter deficiency, and potential intellectual deficiency. Open dysraphism is diagnosed in Europe in 93.5% of cases. In case of suspicion of fetal open dysraphism, a detailed fetal morphologic assessment is required to confirm the diagnosis and exclude associated structural anomalies, as well as genetic assessment. In case of isolated fetal open dysraphism, assessment of prognosis is based on fetal imaging including the level of the lesion, the presence or not of a sac, the presence and nature of intra cranial anomalies, and the anatomical and functional evaluation of the lower extremities. Based on these biomarkers, a personalized prognosis as well as comprehensive information about prenatal management alternatives will allow parents to decide on further management options. Standardization of prenatal assessment is essential to compare outcomes with benchmark data and make assessment of surgical innovation possible. Herein, we propose a protocol for the standardized ultrasound assessment of fetuses with isolated open dysraphism.

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“…In the case of spinal curvature, care should be taken to quantify the degree of curvature for counseling and prenatal repair candidacy purposes. 79,101 Although complete spine evaluation can be performed efficiently with ultrasonography alone, 79,102 MRI may aid in confirming ultrasonographic findings 103 and may be particularly helpful to further delineate fetal anatomy, particularly in complicated cases in which sacral agenesis or other associated anorectal malformation is suspected. 79 Formal fetal lower-extremity motor function assessment, or rather determination of functional neuromotor level in addition to anatomic level of the lesion, is an important aspect of the ultrasonographic evaluation for a fetus with open spina bifida.…”

Section: Prenatal Screening and Diagnosismentioning

confidence: 99%

Section: Prenatal Screening and Diagnosismentioning

confidence: 99%

Advances in Fetal Surgical Repair of Open Spina Bifida

Chmait

Monson

Chon

2023

Obstetrics &Amp; Gynecology

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Spina bifida remains a common congenital anomaly of the central nervous system despite national fortification of foods with folic acid, with a prevalence of 2-4 per 10,000 live births. Prenatal screening for the early detection of this condition provides patients with the opportunity to consider various management options during pregnancy. Prenatal repair of open spina bifida, traditionally performed by the open maternal-fetal surgical approach through hysterotomy, has been shown to improve outcomes for the child, including decreased need for cerebrospinal fluid diversion surgery and improved lower neuromotor function. However, the open maternal-fetal surgical approach is associated with relatively increased risk for the patient and the overall pregnancy, as well as future pregnancies. Recent advances in minimally invasive prenatal repair of open spina bifida through fetoscopy have shown similar benefits for the child but relatively improved outcomes for the pregnant patient and future childbearing.

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Prenatal Diagnosis of Sharp‐Angled Lumbosacral Kyphosis With Myelomeningocele and Spina Bifida in a Fetus

Cited by 7 publications

References 12 publications

The Diagnostic Features of Spina Bifida: The Role of Ultrasound

The Diagnostic Features of Spina Bifida: The Role of Ultrasound

Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN

Advances in Fetal Surgical Repair of Open Spina Bifida

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