syndrome is a variable combination of congenital malformations caused by trisomy 21. It is the most commonly recognized genetic cause of mental retardation Because of the morbidity associated with Down syndrome, screening and diagnostic testing for this condition are offered as optional components of prenatal care. Prenatal diagnosis of trisomy 21 allows parents the choice of continuing or terminating an affected pregnancy.
Down syndrome is usually identified soon after birth by a characteristic pattern of dysmorphic features The diagnosis is confirmed by karyotype analysis. Trisomy 21 is present in 95 percent of persons with Down syndrome. Mosaicism, a mixture of normal diploid and trisomy 21 cells, occurs in 2 percent. The remaining 3 percent have a Robertsonian translocation in which all or part of an extra chromosome 21 is fused with another chromosome. Most chromosome-21 translocations are sporadic. AGE RELATED RISK A 20 year-old woman has a 1 in 1,500 risk of having a baby with Down's syndrome. A 30 year-old woman has a 1 in 800 risk. A 35 year-old woman has a 1 in 270 risk. A 40 year-old woman has a 1 in 100 risk. A 45 year-old woman has a 1 in 50 risk or greater.
Ultrasound
Ultrasound imaging can be used to screen for Down syndrome. Increased fetal nuchal translucency (NT) is an indicator of increased risk of Down syndrome. A 2003 systematic review of 30 studies of NT in Down syndrome found an average sensitivity of 75-80% with a false positive rate of 5.8-6% (95% confidence intervals).Therefore, while the false positive rate is too high for NT to be used alone as a screening test, it is useful as part of a combined test. Ultrasound measurement of NT is usually performed between 11 and 14 weeks gestation.
Screen
Description
1013.5
85%
5%
Quad screen
1520
81%
5%
This test measures the maternal serum alphafetoprotein, unconjugated estriol, beta-hCG, andAlpha (INHA).
Integrated test
15-20
95
5%
The integrated test uses measurements from both the 1st trimester combined test and the 2nd trimester quad test to yield a more accurate screening result. Because all of these tests are dependent on accurate calculation of the gestational age of the fetus, the real-world false-positive rate is >5% and may be closer to 7.5%.
Congenital heart defects (atrioventricular canal defect, ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot) Hearing loss (related to otitis media with effusion or sensorineural) Ophthalmic disorders (congenital cataracts, glaucoma, strabismus) reased nuchal fold thickness Cystic hygromas Echogenic intracardiac foci Congenital heart defects Increased intestinal echogenicity
40 to 75
60
both parents. If both parents have normal karyotypes, the recurrence risk is 2 to 3 percent. If one parent carries a balanced translocation, the recurrence risk depends on the sex of the carrier parent and the specific chromosomes that are fused.
Recommended additional monitoring of children with Down syndrome by DSMIG and CGAAP.
Test
Age
Hearing test
T4 and TSH
Ophthalmic evaluation
Dental examination
Baseline polysommography