What is Trisomy 18?

Trisomy 18, also known as Edwards’ syndrome, is caused by an extra chromosome 18 in the genome and has an incidence of approximately 1 in 6000 live births, with a male to female ratio of 1:3. The pathogenesis is due to chromosome non-segregation during meiosis of germ cells or during early oogenesis of congeners. The main characteristic manifestations include short sternum, pincer hands and excessive arching of the fingers. 18-trisomy is usually delivered late, with low fetal movement, excessive amniotic fluid, small placenta and single umbilical artery; low birth weight and increased muscle tone; developmental delay and severe mental retardation. Oculofacial malformations with a small jaw are common and can be as high as 70%. Cleft lip and palate can be seen in trisomy 18, but are far less common than trisomy 13. Others include small head with occipital prominence; orbital ridge hypoplasia, short eye fissures, inner canthus, small eyes, cloudy cornea; narrow and long nasal bridge, narrow palate, small jaw, small mouth, low ear position, flattened auricle, pointed upper end, shaped like animal ears; short neck; loose skin, many fine hairs on forehead and back, marble-like skin. The prognosis is poor and most children die soon after birth, with an average life expectancy of 70 days. Those who are lucky enough to live into childhood are often accompanied by severe mental retardation and physical deformities. Prevention: 1. Before conception, avoid ionizing radiation, overdose and exposure to chemical substances and viral infections; pay attention to personal hygiene, maintain good living habits, pay attention to moderate physical exercise to enhance the body’s resistance. 2. Ultrasound examination during pregnancy combined with maternal serum biochemical index screening can screen out most of the cases. 3. Termination of pregnancy is recommended for karyotype abnormalities. 4.People with a history of trisomy 18 or other trisomy pregnancies have an increased risk of trisomy 18 and other trisomy reoccurrence. 5, Those with a history of trisomy 18 childbirth must undergo prenatal diagnosis when they become pregnant again.