Sonographic, cytogenetic and DNA analysis in four 69,XXX fetuses diagnosed in the second trimester.
OBJECTIVE
To describe the ultrasound findings and its relationship with the cytogenetic study and the origin of the extra haploid chromosome set in four 69,XXX cases.


METHODS
Four pregnant women were referred because of abnormal 2nd trimester ultrasound. Karytoypes, FISH and DNA analysis were performed.


RESULTS
All cases presented asymmetrical intrauterine growth retardation, marked oligohydramnios and placental alterations and showed a 69,XXX karyotype. In three cases, DNA analysis allowed to establish the origin of the extra haploid chromosome set.


CONCLUSIONS
At least three fetuses had a maternal extra haploid chromosome set. Thus, it has been possible to establish the main ultrasonographic markers and to observe the survival of the fetus until the second trimester when they have a maternal origin.
Fernández-Moya
J M
JM
Department of Obstetrics and Gynecology, Fundación Jiménez Díaz, Universidad Complutense, Madrid, Spain.
Sanz
R
R
Rodríguez De Alba
M
M
Ibañez
M A
MA
Ayuso
C
C
Díaz-Recasens
J
J
Robledo
M
M
Ramos
C
C
D000328:Adult; D000653:Amniotic Fluid / Q000737:chemistry; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000032:analysis / Q000097:blood; D015193:Chorionic Villi Sampling; D002887:Chromosomes, Human, Pair 18; D020732:Cytogenetic Analysis; D004247:DNA / Q000032:analysis*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D016104:Oligohydramnios; D011123:Polyploidy; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D014960:X Chromosome; D000509:alpha-Fetoproteins / Q000032:analysis
D018997:Chorionic Gonadotropin, beta Subunit, Human; D000509:alpha-Fetoproteins; D004247:DNA