WebDown Syndrome Center 7920 Frost Street, Suite 200, San Diego, CA 92123 858-966-8855 858-966-8512 View All Locations > Our Mission: To improve the quality of life for children with Down syndrome and their families by offering coordinated assessments, connections to resources, education and advocacy. Overview WebMay 27, 2011 · Genetic counselors should balance the negative aspects of Down syndrome, such as birth defects, medical complications, and developmental delay, with positive aspects like available treatments, therapies, and the ability for people with Down syndrome and their families to enjoy a high quality of life (Bryant et al. 2001 ).
Chromosomal Abnormalities: Trisomy 21 (Down Syndrome)
Down’s syndrome (DS), also known as trisomy 21, is the most common congenital chromosomal abnormality, occurring in about 1 in 800 to 1 in 1000 live births.1,2 The presence of additional genetic material from chromosome 21 results in characteristic phenotypic features and increased … See more Trisomy 21 typically occurs via one of the following mechanisms:4,5 1. Meiotic non-disjunction of the maternal chromosome 21 (95%) 2. Robertsonian translocation of unbalanced chromosomal material, usually between … See more Maternal age is the strongest risk factor for Down’s syndrome.23 Table 1. Risk of Down’s syndrome (live births) in relation to maternal age at … See more Differential diagnosis of Down’s syndrome includes, but is not limited to: 5,24 1. Congenital hypothyroidism 2. 49 XXXXY chromosome and high-order X chromosome … See more WebMar 8, 2024 · A genetic counselor can help you understand your chances of having a child with Down syndrome. He or she can also explain the prenatal tests that are available and help explain the pros and cons of … first and last occurrences of x gfg
Counseling parents of infants with Down
WebNov 12, 2024 · Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35-year-old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. At age 45 the incidence becomes … WebCommon medications requiring counselling Expand the boxes below to help gain the knowledge required to help counsel patients about starting medications. Use the information in conjunction with our notes on how to counsel patients. Warfarin Direct oral anticoagulant (DOAC) Levothyroxine Statin Metformin Iron tablets SSRI Methotrexate Lithium WebMar 8, 2024 · Screening for Down syndrome is offered as a routine part of prenatal care. … first and last name start with same letter