Down Syndrome Awareness Month

Down syndrome is the most common chromosomal condition in the United States. According to the Centers for Disease Control and Prevention (CDC), approximately one in every 700 babies in the United States is born with Down syndrome.  It is most likely to occur in children whose mothers became pregnant with them at 35 years of age or older.

Typically, at the time of conception, a fetus receives genetic information from both parents in the form of 46 chromosomes.  Down syndrome develops as a result of the fetus receiving an extra copy of chromosome 21.  This extra chromosome affects the baby’s physical and mental development.   Some of the physical features and developmental problems associated with Down syndrome include:

  • Flattened face, particularly in the bridge of the nose
  • Almond-shaped eyes that slant up
  • A short neck
  • Small ears
  • A tongue that tends to stick out of the mouth
  • Tiny white spots on the iris (colored part) of the eye
  • Small hands and feet
  • A single line across the palm of the hand (palmar crease)
  • Small pinky fingers that sometimes curve toward the thumb
  • Poor muscle tone or loose joints
  • Shorter in height as children and adults

There are three main types of Down syndrome. Approximately 95% of people with this condition have Trisomy 21, in which each cell of their body has three copies of chromosome 21 instead of the typical two. About 3% of people with Down syndrome have translocation Down syndrome, in which an extra part or whole chromosome 21 is present, but attached to a different chromosome. The rarest form of Down syndrome is mosaic Down syndrome, in which only some cells have an extra copy of chromosome 21.

People with Down syndrome are at greater risk for certain medical problems. Some of these include hearing loss, obstructive sleep apnea, ear infections, eye diseases, and heart defects. Many people who live with Down syndrome are regularly monitored by a doctor to identify these conditions.

While Down syndrome is a lifelong condition, treatments such as speech, occupational, and physical therapy, when initiated at an early stage in life, can help individuals living with it develop to their full physical and intellectual potential. It is essential to work with your doctor during pregnancy to identify whether your child may have Down syndrome, as this will help with getting them the care they need as early as possible.

To speak with a doctor at Flushing Hospital Medical Center about screening or diagnostic testing for Down syndrome during pregnancy, please call (718) 670-5486.

All content of this newsletter is intended for general information purposes only and is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. Please consult a medical professional before adopting any of the suggestions on this page. You must never disregard professional medical advice or delay seeking medical treatment based upon any content of this newsletter. PROMPTLY CONSULT YOUR PHYSICIAN OR CALL 911 IF YOU BELIEVE YOU HAVE A MEDICAL EMERGENCY.

National Birth Defects Prevention Month

January is National Birth Defects Prevention Month.  It is a time for raising awareness of how frequently birth defects can occur and what can be done to help prevent them.

Birth defects are defined as conditions that are present when a baby is born and can affect nearly every part of the body.  Conditions such as cleft lip can be easily diagnosed.  Other conditions such as deafness or heart defects may only be discovered after diagnostic testing.

The largest number of birth defects occurs during the first three months of gestation. In the U.S. approximately 120,000 babies are born with birth defects each year.

The 10 most common birth defects in the US, according to the Centers for Disease Control and Prevention (CDC) are:

  • Down syndrome
  • Cleft lip (with or without cleft palate)
  • Atrioventricular septal defect (hole in the heart)
  • Absence of malformation of the rectum and/or large intestine
  • Gastroschisis (hole in the abdominal wall)
  • Tetralogy of Fallot (a combination of heart defects)
  • Spina bifida without anencephaly
  • Reduction deformity, upper limbs
  • Reversal of the heart’s two main arteries

Although birth defects can’t always be prevented, there are plenty of steps pregnant women can take to help reduce the risk.

The womenshealth.gov website offers these suggestions:

  • Make regular visits to your doctor throughout pregnancy
  • Get 400mcg of folic acid each day through diet or supplements
  • Don’t smoke, use illegal drugs or drink alcohol while you are pregnant
  • Always check with your doctor before taking any medication
  • Get all vaccinations recommended by your doctor
  • If you have diabetes, keep it under control
  • Stick to a healthy weight

You may also request a pre-pregnancy or early pregnancy screening test in order to spot potential or real birth defects.  The types of tests include a carrier test to see if you or your partner carries potentially harmful genes, as well as screening and diagnostic tests that can determine risks for and detect genetic disorders.

If you are pregnant, or planning to be, and want to discuss your options with one of our doctors, the Women’s Health Center at Flushing Hospital Medical Center is centrally located and has convenient hours; to make an appointment call 718-670-8992.

 

All content of this newsletter is intended for general information purposes only and is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. Please consult a medical professional before adopting any of the suggestions on this page. You must never disregard professional medical advice or delay seeking medical treatment based upon any content of this newsletter. PROMPTLY CONSULT YOUR PHYSICIAN OR CALL 911 IF YOU BELIEVE YOU HAVE A MEDICAL EMERGENCY.