Lissencephaly: A Case Study

Christine Le, an accountant living in Flushing, New York, gave birth to a healthy baby “Nathan” on January 29th, 2010. She found out that she was pregnant with her first child when her period was late. She had the routine prenatal care starting at 12 weeks and delivered at 40 weeks in a hospital with the present of her husband, Robert, and the in-laws. To insure her baby was healthy, Christine underwent several prenatal diagnostic methods like amniocentesis to examine for genetic defects. Another method was ultrasound; its purpose is to assess fetal age, multiple pregnancies, size and shape of the fetus. Christine underwent numerous lab tests to ensure that there are no complications (Berk, pg.43). Lab tests like a complete blood count that screens

It is possible to detect any structural abnormality or low birth weight with the help of ultrasound scans and you can discuss with your doctor about them. Unfortunately there are no tests available for detecting brain function and development. You need to tell the pediatrician about cocaine use during pregnancy, so they can be in a better position to look after the

Turner Syndrome during pregnancy can be confirmed by prenatal testing by sampling, or getting cells from the baby for a chromosome analysis. If the diagnosis is confirmed prenatally, also the baby may be under the care of a specialist pediatrician, also the baby may be under the care of a specialist immediately after birth.

Between day twenty-five and twenty-seven of pregnancy, normally before a woman even knows she is pregnant, the neural tube that ultimately becomes the brain and spinal cord begins to develop and eventually close. When the neural tube fails to close, the outcome is a neural tube defect called anencephaly.

On today’s evaluation, she is 19 weeks and the fetal measurements overall are concordant. The long bone measurements are within one week of her dates. The amniotic fluid volume is normal, and the cervix is long and closed. A complete fetal anatomical survey was performed and a significant amount of ventriculomegaly/hydrocephalous was identified but no other major malformations were noted at this time, though due to the

The Arnold-Chiari malformation refers to the second type of malformations associated with the Chiari group, where the irregular formation of the brainstem and cerebellum sees them

Birth defects can have life threatening consequences for the fetus. Many birth defects can be detected during pregnancy by an ultrasound. Some of these abnormalities include abdominal wall defect, orofacial cleft, anencephaly, and down syndrome. Although at this time ultrasound is the safest way to observe a fetus, risks are still associated with it.

Microcephaly is a medical condition in which your child’s head is much smaller than normal. Head size (circumference) is measured as part of children's routine checkups. A child’s head grows while in the womb and during the first few years of life. Your child may be born with microcephaly, or the condition may be diagnosed in the months after birth. It is usually diagnosed by age 2.

The severity of symptoms can vary, and can include physical symptoms with normal intelligence, to impaired physical and cognitive development, with the potential for seizures, delayed motor and speech functions, and many other physical and neurological problems. In most cases, the problems are chronic and a lifelong issue. At times, they can be life-threatening (CDC). There is no treatment to fix the physical abnormalities found in microcephaly.

Usually, microcephaly can range from mild to severe. Babies with this condition have many health problems

Ultrasounds are performed when medically necessary. According to the article, Prenatal Diagnosis of Microcephaly, ultrasound during pregnancy, “has not been associated with adverse maternal, fetal, or neonatal outcomes”. It continues to say that, “ultrasound is safe for the fetus when used appropriately”. This is a safe tool that gives the doctors a better idea of what is wrong with a patient without performing unnecessary surgery. Ultrasounds have been a key instrument in aiding the diagnosis of medical conditions for many years and continues to become more efficient and accurate in time. Although ultrasounds can be used for many reasons all throughout the body, the main

After birth, a physical examination is conducted on the infant and with the help of a stethoscope, cardiac murmurs (i.e. extra or unusual sounds) can be heard, which indicate an underlying pathology. In order to determine the nature of the pathology, imaging studies such as a chest X-ray, cardiac MRI and echocardiograms may be done. Electrocardiograms are also of diagnostic value.

Treatment plan for hydrocephalus involves surgery to remove the obstruction or creating a new pathway to divert excess CSF. This procedure can be done by placing a catheter or shunt in the ventricle which will pass the CSF to the peritoneal cavity, right atrium, or the pleural spaces of the lungs (London et al., 2014). The nursing management for these patients are centered around the surgical procedure. Three top nursing diagnosis for the child with hydrocephalus include: (a) impaired physical mobility, (b) risk for infection, and (c) risk for injury. First, in the pre-operative setting the interventions include: (a) small frequent feedings until placed on NPO status, (b) monitor head circumference and signs of ICP, (c) assess respiratory

This disease has been traced to a loss of cells in the basal ganglia and cortex”.

Currently, there are four prenatal diagnosis techniques used. The first, and safest method, is an ultrasound. It is noninvasive and can assess and evaluate gestational age, fetal position, growth, development, and any structural birth defects. When performed by highly skilled operators, abnormalities can be detected with as high as 90% accuracy (IOM 1994).