Down syndrome is a condition caused by an inclusion in the genome of an extra copy of the 21st chromosome. Otherwise known as trisomy 21, this disorder is relatively common among all human populations.
The causes for trisomy 21 are varied. There are certain risk factors which increase the incidence of Down Syndrome including advanced maternal age and familial history.
Babies born with this birth defect often require extra medical care and often find themselves at higher risk for developing diseases and other medical complications. Down syndrome babies may suffer from cognitive impairment, genetic defects of the heart, hypotonia of key muscle groups and a distinct appearance characterized by deformities including epicanthic folds on the eyes and a round or oval-like face.
Mothers who give birth for the first time after the age of 35 are at a higher risk of having a baby with Down Syndrome. Indeed, according to a CDC study conducted in 2006, a 45 year old first time mom has a nearly 4% chance of giving birth to a Down Syndrome child; whereas a 30 year old first time mom has 0.2% chance of having a baby with this defect.
Prenatal testing can help obstetricians and parents determine whether an embryo might be at risk for Down Syndrome. Tests include screens of maternal liver proteins, maternal hormone levels and pregnancy hormones in the placenta. The fetus can also be examined via ultrasound to determine if there are any deformities or markers developmentally which would be indicative of Down Syndrome.
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