Naslov
Autosomal trisomies - a very important cause of early spontaneous abortions

Autori
Tonković Đurišević, Ivana ; Crkvenac Gornik, Kristina ; Mužinić, Dubravka ; Letica, Ljiljana ; Lasan, Ružica ; Begović, Davor

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Mjesto i datum
,

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
autosomal trisomies; spontaneous abortions; cytogenetics

Sažetak
Spontaneous abortion is defined as the termination of pregnancy before 20th weeks of gestation or below a fetal weight of 500 grams. A total of 321 cases of first trimester spontaneous abortions between 4 and 13 weeks of gestation were analyzed cytogenetically by the direct - preparation method using chorionic villi. A total of 172 (54%) of the specimens were chromosomal abnormal, and 91% were numerical chromosomal abnormalities. The most common abnormalities are trisomies, arising de novo as a result of meiotic non-disjunction during gametogenesis in parents with a normal karyotype. Gonadal mosaicism for trisomies can contribute to recurrent trisomy. Autosomal trisomies comprise 34% of karyotyped spontaneous abortions, and the vast majorities were single trisomies. Trisomies for all chromosomes, with the exception of chromosomes 1, 5, 11, 17 and 19 were observed. Double trisomies [48, XX, +2, +16 ; 48, XX, +16, +18 ; 48, XX, +21, +22] and mosaic trisomy [46, XY/47, XY, +7 ; 46, XX/48, XX, +7, +16 ; 47, XX, +20/48, XX, +7, +20 ; 47, XY, +14/48, XXY, +14] were rare. The most frequent was trisomy 16 (34%), followed by trisomy 22 (11%) and 21 (9%). When abortions were stratified by maternal age, 23% of cases were trisomic in women younger than 35 years of age, and 57% were trisomic in women 35 years or older. This study confirms that the incidence of trisomy increases with maternal age. The mean gestational age was 8-9 weeks. A trisomyc karyotype in chorionic villi from a spontaneous abortion explains the reason for the loss and does not place the couple at higher risk for repeated chromosomal trisomy and pregnancy loss.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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