MEDRADSC 3Y03 Lecture Notes - Lecture 6: Multiple Birth, Umbilical Cord, Prenatal Care

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Week 6a fetal diagnosis and ethical challenges. Desire to terminate if an abnormality is found. Desire to have as much information for preparation. What is a birth defect? illness and long-term disability. First done in 1877 (for polyhydramnios-excessive amniotic fluid) First done for chromosomal studies on fetus 1966. What screening tests are available? present: ultrasound. Serum analytes: papp-a, free -hcg evaluation of soft markers i. e. nuchal translucency, small nasal. Serum analytes: afp, ue3, hcg, inhibin a. 50% of t21 fetuses have a normal us! Chromosomal abnormality (aneuploidy), gene change (sickle cell) Amniocentesis: > 15 weeks, remove 15-20 ml of amniotic fluid, amniocytes cultured, advantages, disadvantages. Cvs, us or the results of these tests were inconclusive. Markers of aneuploidy & congenital heart disease: 2nd trimester ultrasound. Survival, morbidity, quality of life: show empathy & compassion at all times, allow the couple time to process the information, provide them with additional resources.

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