title: Prenatal diagnosis of an atrioventricular canal in a foetus with deletion of chromosome 8 (pter-->p21).
abstract: 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.
authors.affiliation: Katedra Perinatologii Klinika Połoznictwa AM w Gdańsku. stefa@microsun.com.pl
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Ciach
authors.forename: Wojciech
authors.initials: W
authors.lastname: Grzybowski
authors.forename: Dariusz
authors.initials: D
authors.lastname: Wydra
authors.forename: Mariola
authors.initials: M
authors.lastname: Iliszko
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Preis
mesh_terms: 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