Summary. Edwards syndrome is a hereditary disease characterized by trisomy of the 18th chromosome (trisomy 18). The occurrence of Edwards syndrome is 1 per 6 000 live births, the proportion of girls to boys is 3:1.
In 95 % of all the cases of Edwards syndrome development, an extra copy of the 18th chromosome is present in the cells (complete trisomy), in 2 % the translocation of another chromosome on the 18th one is found; in 3 % of cases “mosaic trisomy” is found when the additional 47th chromosome is found not in all the cells but in a part of them. The most important, but not a single risk factor promoting the development of trisomy 18 is a woman’s age over 40. Prenatal diagnostics of Edwards syndrome includes USD and biochemical screening of a pregnant woman during the 11-13th weeks of gestation studying the levels of β-chorionic human gonadotrophine and plasma protein А, associated with pregnancy, as well as karyotype detection of the fetus in pregnant women from risk groups.
The article presents a clinical case of Edwards syndrome of a newborn girl born from I pregnancy (anemia of pregnancy, early toxicosis, maternal chronic pyelonephritis, parental contact with industrial harmful factors), І physiological labour on the 40-41st week with breech presentation, body weight of 1480 g and body length of 40 cm, and 4/4 Apgar score.
The woman was found to be registered regarding pregnancy since the 15th week of gestation, she positively refused screening examinations. The first USD was performed during the 30th week of gestation. It found complicated congenital developmental defects of the heart and retarded development of the fetus syndrome. The risk of a child’s birth with congenital pathology was considered to be high.
The child’s condition at birth and during the whole period of treatment and care in the neonatal resuscitation unit was assessed as severe with progressive negative dynamics at the expense of deterioration of multiple organ failure signs. Examination of the patients found multiple dysmorphic signs including narrow eyelid openings, low-set ears, microstomy, micrognathia, deformities of the limbs. By means of instrumental methods of examination semilobar shape of the holoprosencephaly (Patau's syndrome), double origin of the major vessels from the right ventricle, defect of the interatrial septum, subaortal defect, right ventricular hypertrophy, defect of the intraventricular septum, the signs of pulmonary hypertension were found; cytogenetic examination detected -47, ХХ, +18, Edwards syndrome.
Considering the severity of multiple developmental defects, in spite of initiated treatment, the girl died at the age of 29 days 3 hours, and 30 minutes. The underlying disease and the cause of death of a term, morphologically immature girl with a low body weight at birth was the chromosome defect – trisomy 18 (Edwards syndrome) complicated by the development of multiple organ failure.
The clinical case presented illustrates an untimely diagnostics of Edwards syndrome (trisomy 18) due to late registration of the pregnant woman, her refuse from screening examinations, including USD, and detection of levels of β-chorionic human gonadotropin and plasma protein A associated with pregnancy. Late prenatal diagnostics of multiple congenital developmental defects of the fetus, lack of prenatal invasive examination with cytogenetic analysis, and diagnostics of chromosome pathology of the child after birth are associated with the solution of ethical issues concerning the choice of “aggressive” therapeutic tactics or giving palliative aid to the child with Edwards syndrome.
EDWARDS SYNDROME LETHAL CASE OF A NEWBORN GIRL
