Neonatal Diagnosis

Diagnosis are aspects of prenatal care that focus of detecting anatomic and physiologic problems with zygote, embryo or fetus as early as possible, either before gestation even starts (as in preimplantation genetic diagnosis) or as early in gestation as applicable. They use medical tests to detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as thalassemia, spina bifida, Tay–Sachs disease, cleft palate, sickle cell anemia,  cystic fibrosis, muscular dystrophy, and fragile X syndrome

Screening can also be used for prenatal sex insight. Common testing procedures include amniocentesis, ultrasonography including nuchal translucency ultrasound, serum biomarker testing, or genetic screening. In some cases, the tests are execute to determine if the fetus will be aborted, though physicians and patients also find it useful to diagnose high-risk pregnancies early so that delivery can be scheduled in a tertiary care hospital where the baby can receive applicable care

  • Prenatal Diagnosis
  • Screened Disorders
  • Tandem Mass Spectrometry
  • Nuclear Medicine Renal Scan
  • Congenital Hypothyroidism
  • Hearing/Neural/Gene Tests
  • Neonatal Stroke
  • Neonatal Jaundice
  • Neonatal Sepsis

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