Diagnosis of TNDM and PNDM The diagnostic evaluations are based upon current literature and research available on NDM. The following evaluation factors are: patients with TNDM are more likely to have intrauterine growth retardation and less likely to develop ketoacidosis than patients with PNDM. TNDM patients are younger at the age of diagnosis of diabetes and have lower insulin requirements, an overlap occurs between the two groups, therefore TNDM cannot be distinguished from PNDM based clinical feature. An early onset of diabetes mellitus is unrelated to autoimmunity in most cases, relapse of diabetes is common with TNDM, and extensive follow ups are important. In addition, molecular analysis of chromosomes 6 defects, KCNJ11 and ABCC8 genes (encoding Kir6.2 and SUR1) provide a way to identify PNDM in the infant stages. Approximately 50% of PNDM are associated with the potassium channel defects which are essential consequences when changing patients from insulin therapy to sulfonylureas. TNDM Diagnosis associated with Chromosome 6q24 Mutations The uniparental disomy of the chromosome can be used as diagnostic method provide proof by the analysis of polymorphic markers is present on Chromosome 6. Meiotic segregation of the chromosome can be distinguished by comparing allele profiles of polymorphic makers in the child to the child's parents' genome. Normally, a total uniparental disomy of the chromosome 6 is evidenced, but partial one can be identified. Therefore, genetic markers that are close to the region of interest in chromosome 6q24 can be selected. Chromosome duplication can found by that technique also. Medical Professionals of NDM * Physician * Endocrinologist * Geneticist Counselor Diagnostic Test of NDM * Fasting plasma glucose test: measures a diabetic's blood glucose after he or she has gone 8 hours without eat. This test is used to detect diabetes or pre-diabetes * Oral glucose tolerance test- measures an individual's blood glucose after he or she have gone at least 8 hours without eating and two hours after the diabetic individual have drunk a glucose-containing beverage. This test can be used to diagnose diabetes or pre-diabetes * Random plasma glucose test-the doctor checks one's blood glucose without regard to when an individual may have eaten his or her last meal. This test, along with an evaluation of symptoms, are used to diagnose diabetes but not pre-diabetes. Genetic Testing of NDM * Uniparental Disomy Test: Samples from fetus or child and both parents are needed for analysis. Chromosome of interest must be specified on request form. For prenatal samples (only): if the amniotic fluid (non-confluent culture cells) are provided. Amniotic fluid is added and charged separately. Also, if chorionic villus sample is provided, a genetic test will be added and charged separately. Microsatellites markers and polymerase chain reaction are used on the chromosomes of interest to test the DNA of the parent and child to identify the presence of uniparental disomy. * Intrauterine Growth Restriction Apgar score is a test given after birth to test the baby's physical condition and evaluate if special medical care is needed.
Neonatal diabetes
Transient neonatal diabetes
Neonatal hypoglycemia
Permanent neonatal diabetes
Transient hyperammonemia of the newborn
Shaken baby syndrome
Hemolytic disease of the newborn
Hemolytic disease of the newborn 