Other findings may not be apparent until postnatal life:
Dysmorphic features: epicanthal folds, single palmar crease, low set ears
Decreased muscle tone
Intellectual disability: usually in the mild (IQ ~70) to moderate range (IQ ~50)
Most individuals with Down syndrome can participate in numerous group and individuals activities, but may need some level of supervision throughout their lives
Individualized education programs can help children with Down syndrome reach their potential
Special education services at school can range from inclusion in the typical classroom with extra help to small group instruction
Hearing loss (up to 75%)
Sleep apnea (50-75%)
Eye disease, such as cataracts (50-70%)
Endocrine disease: thyroid, diabetes
Leukemia is slightly increased in this population, typically requiring lower doses of chemotherapy treatments
Plaques are frequently seen in older adults with Down syndrome (50+ years) but their presence does not mean that Alzheimer’s disease will necessarily develop – other treatable causes of decline are investigated first
Down syndrome (DS) is a condition caused by the presence of an extra chromosome (#21) at the time of conception. In 90% of cases, it is the result of nondisjunction during meiosis (Trisomy 21), which is usually a sporadic occurrence. In 4-5% of DS affected individuals a chromosomal imbalance is the cause, inherited from a parent who has a balanced karyotype (i.e. Robertsonian translocation). A small proportion of affected individuals, < 1%, are diagnosed with mosaic DS.
ACOG requires all women be offered prenatal screening (biochemical/cfDNA) or invasive testing (amniocentesis;CVS) to detect an increased risk for DS, or to diagnosis it, respectively
Children with Down syndrome are more similar to other children than they are different
Overall, this condition is present in approximately 1 in 800 live births. Risk increases with maternal age
At maternal age 25, the risk is 1/1250
At maternal age 35, the risk is 1/365
At maternal age 40, the risk is 1/110
At maternal age 45, the risk is 1/32
If there is a family history or previous DS pregnancy, refer for genetic counseling
Data is limited on obstetrical management of an ongoing pregnancy with trisomy 21
Increased risk of fetal loss (5.9%), growth restriction (17.5%) and anomalies (75.0%)
Non-reassuring fetal surveillance (35.9%) appears to be associated with placental insufficiency and not necessarily related to structural anomalies
Data suggests a role for antepartum surveillance
Note: ACMG provides healthcare professionals with open access ‘ACT Sheets’ to guide next steps following a positive NIPS report for trisomy 21 (see ‘Learn More – Primary Sources’ below)
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