Chromosomal Conditions

The common trisomies

Down syndrome (trisomy 21) is a genetic condition that occurs when an extra chromosome (chromosome 21) originates in the development of either the sperm or the egg. When the egg and the sperm unite to form the fertilized egg, three (rather than two) chromosomes 21 are present. As the cells divide, the extra chromosome is repeated in every cell. This is why it’s referred to as “trisomy 21”. Down syndrome is the most frequently occurring chromosomal condition, occurring in about 1 in 700 births. Down syndrome can affect physical and intellectual development and may shorten lifespan.

Edwards syndrome (trisomy 18) is due to an extra copy of chromosome 18. Trisomy 18 causes Edwards syndrome and is associated with a high rate of miscarriage. Infants born with Edwards syndrome may have various medical conditions and a shortened lifespan. It is estimated that Edwards syndrome is present in approximately one out of every 5,000 newborns.

Patau syndrome (trisomy 13) is due to an extra chromosome 13. Trisomy 13, also called Patau syndrome, is associated with a high rate of miscarriage. Infants born with trisomy 13 usually have severe congenital heart defects and other medical conditions. Survival beyond the first year is rare. It is estimated that trisomy 13 is present in approximately 1 out of every 16,000 newborns.

Sex Chromosome Aneuploidies

Turner syndrome (XO), in which only one single intact X chromosome is present, affects 1 in 2,000 girls and causes short stature. Girls and women with Turner syndrome are treated with growth hormone from the age of 3-4 and later with the female sex hormone estrogen in order to undergo normal puberty development. In this way, the affected can live a completely normal life.

Klinefelter syndrome (XXY), in which an extra X chromosome is present, affects male fetuses. The syndrome occurs in 1 in 500–1000 boys, making it one of the most common sex chromosome variations. Many people with Klinefelter’s syndrome live without symptoms, while others suffer from a variety of functional impairments such as infertility, reduced sex drive and osteoporosis. Read more about what it’s like to live with Klinefelter syndrome.

Other X and Y chromosome-related conditions affect as many as 1 in 650 newborns.

*Analysis of sex chromosome abnormalities is not possible in twin pregnancies 

Microdeletions

22q11.2 deletion syndrome has very large variability, even between people in a family having the same deletion. Many different organs may be affected. The most commonly occurring is heart malformation, cleft palate and underdevelopment of the thymus and thyroid glands. Common symptoms include feeding difficulties, speech and language disorders, infection susceptibility due to immune deficiency, learning difficulties and neuropsychiatric problems. Teeth, hearing, vision and growth can be also be affected. Underdevelopment of the thyroid glands may cause calcium deficiency which may cause seizures. The severity of the various symptoms can vary from very mild to severe.

Early diagnosis allows several of the problems to be treated at birth and in the newborn period, thus giving milder symptoms.

Older names: DiGeorge syndrome, CATCH 22, Velocardiofacial syndrome VCFS.

Genetics of 22q11.2 deletion syndrome

22q11.2 deletion syndrome is estimated to occur in approximately 1 in 4,000 born children. In about 90% of cases, there is a new chromosome change that is not found in any parent. In about 10% of cases, the syndrome is dominantly herited from one of the parents. The likelihood of giving birth to a child with 22q11.2 is independent of the mother’s age.

85% of cases have 3 megabases of DNA lacking (deletion) on the long arm of chromosome 22, others have lost a smaller part in the same area.

Harmony NIPT is designed to detect both the larger and the smaller deletions, unlike many other NIPT technologies that only detect the largest deletions.

*Analysis of microdeletion 22q11.2 is not possible in twin pregnancy

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