Briefly describe how ultrasound procedure can contribute to the diagnosis of genetic conditions?

Answer 1

Ultrasound is a noninvasive procedure which uses sound waves to produce a reflected image of the fetus upon a screen. It is used to determine the age and position of the fetus, and the location of the placenta. Ultra-sound is also useful in detecting visible birth defects such as spina bifida (a defect in the development of the vertebrae of the spinal column and/or the spinal cord). It is also useful for detecting heart defects, and malformations of the head, face, body, and limbs. This procedure, however, cannot detect biochemical or chromosomal alterations in the fetus.


Many pregnant women want to know whether their baby will be normal; some do not. They may not want to know because they are afraid of undergoing a diagnostic procedure such as an ultrasound. . They may not want to know because it doesn't matter anyway, they wouldn't terminate a pregnancy if the baby was abnormal so why know and just worry about it? Physicians like to know in case there is something wrong that might be made worse with a vaginal delivery such as a neural tube defect, hydrocephalalus or brittle bones in the baby's head called ostogenesis imperfecta. For certain conditions, physicians would like to have specialists on hand right at the time of delivery if the baby had a diaphragmatic hernia (bowels up in the chest cavity) or gastroschisis (bowels outside abdominal cavity on skin) or even certain heart defects