October is also Down Syndrome Awareness Month

What is Down Syndrome?
Down syndrome is the most common genetic condition affecting 1 in every 691 babies born in the United States. Roughly 6,000 babies are born each year with Down syndrome and that number is expected to rise given that women are starting their families later in life. Approximately 400,000 Americans currently have Down Syndrome.

down-syndrome-pgd-pgs-orange-county-nihgov photoEach human cell has 46 chromosomes with 23 inherited by the mother and 23 inherited by the father. Down syndrome, also known as Trisomy 21, occurs when 3 chromosomes occur at the 21 position instead of the normal 2 chromosomes. In other words, in chromosome 21, there is an extra copy giving rise to 47 chromosomes instead of the normal 46. This extra chromosome alters the development stage and causes characteristics of Down syndrome which are small stature, low muscle tone, flattened facial profile, upward slant to the eyes, and a deep crease across the center of the palm.

Maternal Age and Down Syndrome
– A 28 year old woman has about a 1 in 1,000 chance of conceiving a baby with Down syndrome.

– A 32 year old woman has about a 1 in 720 chance of conceiving a baby with Down syndrome.

– A 36 year old woman has about a 1 in 300 chance of conceiving a baby with Down syndrome.
– A 40 year old woman has about a 1 in 100 chance of conceiving a baby with Down syndrome.

There are screening and diagnostic tests that can be performed before the baby is born to determine his or her chances of having Down syndrome.

Preimplantation Genetic Diagnosis and Down Syndrome
west-coast-fertility-center-down-syndrome-trisomy21-pgd photoPreimplantation Genetic Diagnosis (PGD) allows for the selection of the best quality embryos before IVF, thus reducing the incidence of a chromosomally abnormal offspring. After fertilization of the egg and sperm in the laboratory, one cell is removed from each embryo during its third day of development. PGD with use of a special fluorescent microscope can detect any extra chromosomes or any missing chromosomes that are related with birth defects.


If you have a family history of genetic chromosomal disorders, recurrent miscarriages, or unexplained infertility issues, please schedule a private consultation with Dr. David Diaz, a fertility expert in Orange County, California with 25 years’ experience diagnosing and treating infertility. 714-513-1399

Do you know the facts about Down syndrome?

Prenatal Screenings for Down Syndrome

Resources: http://www.ndss.org/ and http://ivfbaby.com/pgd.php

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