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P67Analysis of fetal karyotypes after abnormal ultrasound findings
Author(s) -
Auren J.,
Ekholm E.,
Palo P.
Publication year - 2000
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2000.00004-1-67.x
Subject(s) - medicine , fetus , amniocentesis , obstetrics , trisomy , cystic hygroma , gestation , pregnancy , in utero , gynecology , gestational age , abortion , abnormality , prenatal diagnosis , chorionic villus sampling , oligohydramnios , chromosome abnormality , karyotype , chromosome , biology , genetics , psychiatry , biochemistry , gene
Background The aim of this study was to evaluate fetal karyotypes in pregnancies with abnormal ultrasound findings. The cases were obtained from the catchment area of the Turku University central Hospital between March 1993 and September 1999. In 48% of cases maternal age was below 30 years. Methods 287 pregnancies with abnormal ultrasound findings were evaluated. Ultrasound examination was performed on average at 21 weeks of gestation (range 10–40 weeks). In 247 cases fetal structural abnormality was detected. In the remaining 40 cases ultrasound abnormality was fetal intrauterine death, small fetal size, and or oligohydramnion or polyhydramnion and partial hydatiform mola (two cases). Amniocentesis was done in 90% and villus biopsy in 10% of cases. Results Fetal karyotype was found abnormal in 15% of pregnancies. Trisomy 21 was found in 10 cases. Six of these pregnancies were sent for evaluation because of increased nuchal translucency, the remaining because of fetal hydrops, ascites or pleural effusion. Nine fetuses had monosomy XO and ultrasonography revealed a cystic hygroma. Four fetuses with trisomy 18 and four with trisomy 13 were found due to structural abnormalities. Fifty pregnancies were terminated, 19 of these because of fetal chromosomal abnormality. Six pregnancies ended in spontaneus abortion. Three of these carried a chromosomally abnormal fetus. Moreover, eight fetuses died in utero later in pregnancy. Karyotyping was not possible in one case. Conclusion Fetal karyotyping should be done also in young mothers in the first and second trimester when fetal ultrasound examination is abnormal.