Template:BGDA Practical 12 - Neonatal Interactive: Difference between revisions

+   ductus venosus closure

|| the ductus venosus connects portal and umbilical blood to the inferior vena cava. Functional closure occurs postnatally within hours. Structural closure commences days after birth and completes by 18 to 20 days. The adult anatomical remnant of the ductus venosus is the ligamentum venosum (a dorsal fissure on the liver).

{Which of the following conditions can be identified by the neonatal Guthrie or bloodspot test:

+   phenylketonuria

|| {{phenylketonuria}} (PKU) - 1 in 10,000 live births (about 10 babies per year). PKU causes high blood levels of phenylalanine and severe intellectual disability. A diet low in phenylalanine, started in the first two to three weeks results in normal development.

Primary congenital hypothyroidism - 1 in 3,500 live births (about 26 babies per year). It is caused by the absence or abnormal formation or function of the thyroid gland. This causes growth and intellectual disability if not treated. Medication with thyroid hormone started early, results in normal growth and development.

+   cystic fibrosis

|| cystic fibrosis (CF) - 1 in 2,500 live births (about 34 babies per year). Without treatment babies develop chest infections and often have very serious failure to thrive. Early institution of treatment greatly improves the health of babies with CF. Newborn bloodspot screening detects about 95% of babies with CF but also detects a few babies who may only be healthy carriers. For these babies a sweat test at about six weeks of age determines whether the baby has CF or is a healthy carrier.

|| galactosaemia - 1 in 40,000 births (about 1-3 cases per year). Babies cannot process galactose, a component of lactose. Life-threatening liver failure and infections can occur. A galactose-free diet instituted in the first week is life saving.

Rarer metabolic disorders - Some fatty acid, organic acid and other amino acid defects can now be detected using Tandem Mass Spectrometry. These much rarer metabolic disorders affect about 15 – 18 babies per year. Early detection is important as diet and medications can treat most of these disorders. Without appropriate management they can cause severe disability or death.

+   spinal muscular atrophy

|| spinal muscular atrophy - (SMA) added to newborn heel prick (Guthrie test) in 'profound' change in medical screening "In an Australian first, newborn babies are now being routinely screened for the genetic condition SMA, or spinal muscular atrophy". SMA leads to a loss of motor neurons and progressive muscle wasting and has several different forms: Type 1, Type 2, and Type 3a SMA. {{#pmid:30107765}}

This page was last modified on 26 May 2019, at 16:29.

Template:BGDA Practical 12 - Neonatal Interactive: Difference between revisions

Revision as of 16:29, 26 May 2019

Neonatal Interactive Component

@@ Line 31: / Line 31: @@
 + &nbsp; ductus venosus closure
 || the ductus venosus connects portal and umbilical blood to the inferior vena cava. Functional closure occurs postnatally within hours. Structural closure commences days after birth and completes by 18 to 20 days. The adult anatomical remnant of the ductus venosus is the ligamentum venosum (a dorsal fissure on the liver).
+{Which of the following conditions can be identified by the neonatal Guthrie or bloodspot test:
+|type="[]"}
++ &nbsp; phenylketonuria
+|| {{phenylketonuria}} (PKU) - 1 in 10,000 live births (about 10 babies per year). PKU causes high blood levels of phenylalanine and severe intellectual disability. A diet low in phenylalanine, started in the first two to three weeks results in normal development.
+Primary congenital hypothyroidism - 1 in 3,500 live births (about 26 babies per year). It is caused by the absence or abnormal formation or function of the thyroid gland. This causes growth and intellectual disability if not treated. Medication with thyroid hormone started early, results in normal growth and development.
++ &nbsp; cystic fibrosis
+|| cystic fibrosis (CF) - 1 in 2,500 live births (about 34 babies per year). Without treatment babies develop chest infections and often have very serious failure to thrive. Early institution of treatment greatly improves the health of babies with CF. Newborn bloodspot screening detects about 95% of babies with CF but also detects a few babies who may only be healthy carriers. For these babies a sweat test at about six weeks of age determines whether the baby has CF or is a healthy carrier.
++ &nbsp; galactosaemia
+|| galactosaemia - 1 in 40,000 births (about 1-3 cases per year). Babies cannot process galactose, a component of lactose. Life-threatening liver failure and infections can occur. A galactose-free diet instituted in the first week is life saving.
+Rarer metabolic disorders - Some fatty acid, organic acid and other amino acid defects can now be detected using Tandem Mass Spectrometry. These much rarer metabolic disorders affect about 15 – 18 babies per year. Early detection is important as diet and medications can treat most of these disorders. Without appropriate management they can cause severe disability or death.
++ &nbsp; spinal muscular atrophy
+|| spinal muscular atrophy - (SMA) added to newborn heel prick (Guthrie test) in 'profound' change in medical screening "In an Australian first, newborn babies are now being routinely screened for the genetic condition SMA, or spinal muscular atrophy". SMA leads to a loss of motor neurons and progressive muscle wasting and has several different forms: Type 1, Type 2, and Type 3a SMA. {{#pmid:30107765}}
 </quiz>
+t
 <br>
 {{BGDALab12}}