Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in an extra partial or full chromosome 21. This extra genetic material is responsible for the characteristic features and developmental problems of Down syndrome.

John Langdon Haydon Down (18 November 1828 – 7 October 1896) was a British physician best known for his description of the genetic condition now known as Down syndrome, which he originally classified in 1862….

Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives.

Conclusion. Ultrasound scans aren’t a full-proof way of testing for Down syndrome in babies. They can detect some indications of potential markers that are commonly seen in Down Syndrome babies but can’t give a definitive answer. A Detailed Anomaly Scan done at 20 weeks can only detect 50% of Down Syndrome cases.

Literature Review and suggested protocol for managing ultrasound soft markers for Down syndrome: Thickened nuchal fold, echogenic bowel, shortened femur, shortened humerus, pyelectasis and absent or hypoplastic nasal bone.

They usually are not permanent (the feature will usually disappear later in pregnancy). Most babies with a soft marker are healthy but depending on which soft marker is seen, the chance of Down syndrome or Trisomy 18 is slightly increased.

The most commonly studied soft markers of aneuploidy include a thickened nuchal fold, limb shortening, mild fetal pyelectasis, echogenic bowel, echogenic intracardiac focus (EIF), choroid plexus cyst (CPC) and single umbilical artery.

Pyelectasis is considered an ultrasound “marker,” which increases the chance that the baby may have Down syndrome. Although Down syndrome can occur in any pregnancy, the chance for Down syndrome increases with the mother’s age.

In most cases pyelectasis resolves normally, having no ill effects on the baby. The significance of pyelectasis in fetuses is not clear. It was thought to be a marker for obstruction, but in most cases it resolves spontaneously.

Approximately 1 in every 40 pregnancies have pyelectasis, and this can be seen in one or both of the kidneys. Pyelectasis can be seen in any pregnancy, but is more common in boys.

Less often, a dilated renal pelvis is an early sign of a more serious problem with the bladder, kidney, or ureter. Down syndrome: Some studies raised concerns about a small risk for Down syndrome with this ultrasound finding.

Although surgery is sometimes needed, hydronephrosis often resolves on its own. Mild to moderate hydronephrosis. Your doctor may opt for a wait-and-see approach to see if you get better on your own. Even so, your doctor may recommend preventive antibiotic therapy to lower the risk of urinary tract infections.

The test will be able to tell you with more than 99 percent accuracy whether your child has Down syndrome or another chromosomal abnormality.

First trimester screening results are given as positive or negative and also as a probability, such as a 1 in 250 risk of carrying a baby with Down syndrome. First trimester screening correctly identifies about 85 percent of women who are carrying a baby with Down syndrome.

By 12 weeks, the baby’s neural tube should have closed so you don’t need to take folic acid. But it isn’t harmful to take it all the way through your pregnancy. So, you can carry on if you are taking pregnancy multivitamin tablets that contain it.

The best way to protect your baby is to start taking folic acid at least 3 months before you get pregnant. This will decrease the chance of your baby developing spina bifida by about 50%. If you wait until you get pregnant or miss your period to start folic acid supplements, you are too late.

Neither bed rest in hospital nor bed rest at home showed a significant difference in the prevention of miscarriage. There was a higher risk of miscarriage in those women in the bed rest group than in those in the human chorionic gonadotrophin therapy group with no bed rest (RR 2.50, 95% CI 1.22 to 5.11).

If you do not get enough folic acid before and during pregnancy, your baby is at higher risk for neural tube defects. Neural tube defects are serious birth defects that affect the spine, spinal cord, or brain and may cause death. These include: Spina bifida.