Prenatal diagnosis of an atrioventricular canal in a foetus with deletion of chromosome 8 (pter-->p21).
Congenital heart malformations, detected during a pregnancy, are associated in 20-48% of cases with a chromosomal aberration. In the following study we have reported the deletion of chromosome 8 (pter-->p21), diagnosed prenatally at 22 weeks of gestation, because of a visible defect in the upper part of the interventricular septum and a partial defect of the atrial septum. The atria and the ventricles were joined with a common central valve. The cordocentesis was performed and karyotype: 46, XX ish del(8)(wcp8x2) was detected. Because of the persistent bradycardia of the foetus, indicating a danger of intrauterine asphyxia of the foetus, as well as features of premature placental detachment, the caesarean section was performed at 27 weeks of gestation. The patient gave birth to a daughter weighing 960 g. The child died in the 4th hour of her life. On the basis of the present observation it is safe to say that when an AV-canal defect is diagnosed prenatally, special attention must be paid to the detection of chromosomal abnormalities and amniocentesis or cordocentesis should be performed to assess the state of affairs.
Ciach
Katarzyna
K
Katedra Perinatologii Klinika Połoznictwa AM w Gdańsku. stefa@microsun.com.pl
Grzybowski
Wojciech
W
Wydra
Dariusz
D
Iliszko
Mariola
M
Preis
Krzysztof
K
D000328:Adult; D000649:Amniocentesis; D002898:Chromosomes, Human, Pair 8; D054089:Endocardial Cushions / Q000196:embryology*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D017353:Gene Deletion; D006344:Heart Septal Defects, Atrial / Q000235:genetics* / Q000601:surgery; D006345:Heart Septal Defects, Ventricular / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis