Trisomy 18, also known as Edwards syndrome (Trisomy E), is a
chromosomal anomaly seen in 6000 live births. Normally, all cells of a human
have two pairs of each chromosome, while this anomaly contains three pairs of
18th chromosome. The scientist who first described this syndrome in 1960 was
John H. Edwards. This is the autosomal trisomy, which is the second most common
after Down syndrome (trisomy 21). About 80% of babies with this syndrome are
girls. As maternal age increases, the frequency of trisomy 18 increases.
Approximately 90% of pregnancies with trisomy 18 chromosomal
structure are lost in the embryonic period or fetal period in the womb. 90% of
those born alive die before their age. About half of babies born with Edwards
syndrome die in the first week.
Anomalies
seen in trisomy 18:
- Intellectual retardation
- Heart abnormalities are most common (VSD, ASD)
- Kidney anomalies (horseshoe kidney)
- omphalocele, gastroschisis
- Developmental retardation in the womb
- Growth failure
- Polyhydramnios
- Hand and foot anomalies observed in trisomy 18 are typical
(clenched hand, bump foot or rocker-bottom feet, radius aplasia)
- Eating and breathing difficulties after birth
- Cleft palate, cleft lip
Typical
image of children with Edwards syndrome: The head is small, the eyes are
located down, the small chin, the ears are located down ...
Diagnosis:
Dual test, triple test, quad test or ultrasonography
examinations performed during pregnancy can provide information about the
presence of trisomy 18, but the exact diagnosis cannot be made with these
methods. For definitive diagnosis, chromosomal examination should be done with
CVS or amniocentesis. In cases that are not diagnosed before delivery, the
diagnosis is made by chromosomal examination after delivery. The chromosome
examination reveals that the 18th chromosome has three pairs.
-FETAL SURGERY
-GASTROCHISIS - OMPHALOCELE
-HYDROCELE
-HYPERECOGENIC INTESTINE
-HEART ANOMALIES
