How to Diagnose Spina Bifida in Newborns

Feb 06, 2022 Source: Cainiu Health
Dr. Ma Yan
Introduction
Common associated anomalies in spina bifida include hydrocephalus, clubfoot, cranium bifidum, meningocele, cleft lip, and congenital heart disease. In most cases, spina bifida in newborns can be diagnosed by visual inspection of the skin appearance over the infant’s back.

Spina bifida in newborns is a condition in which part of the vertebral canal fails to close completely, representing a common congenital neural tube defect. In overt (or “open”) spina bifida, diagnosis is relatively straightforward: at birth, a soft, fluctuant, cystic mass can be observed over the lumbosacral or sacrococcygeal region; the overlying skin typically appears normal in color. However, some infants may exhibit neurological deficits, such as lower-limb motor impairment or urinary and fecal incontinence.

How to Diagnose Spina Bifida in Newborns

Spina bifida is frequently associated with other congenital anomalies, including hydrocephalus, clubfoot, cranial meningocele, cleft lip, and congenital heart disease.

In most cases, neonatal spina bifida can be identified through visual inspection of the infant’s back skin. Overt spina bifida usually presents clinically—for example, a midline cystic mass on the back that enlarges progressively with age. In contrast, occult (or “hidden”) spina bifida cannot be reliably detected by physical examination alone and requires imaging studies—such as magnetic resonance imaging (MRI). MRI typically reveals caudal displacement of the conus medullaris and thickening of the filum terminale, with a transverse diameter generally exceeding 2 mm. However, it should be noted that occult spina bifida often remains asymptomatic and undetected.

Prevention begins with understanding its underlying causes, followed by targeted interventions. Maternal folate deficiency during pregnancy is a well-established risk factor; adequate folic acid supplementation significantly reduces the incidence of spina bifida. Viral infections during pregnancy must also be avoided. If a pregnant woman becomes ill, she should consult her healthcare provider before taking any medication to minimize infection-related risks. Additionally, exposure to ionizing radiation should be minimized throughout pregnancy; pregnant women are advised to limit prolonged contact with electronic devices such as computers and mobile phones.

We hope this information is helpful. Wishing you a happy and healthy life!

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