Amaç
This study performed to present and discuss the results and indications of amniocentesis performed and analyzed in Zekai Tahir Burak Women's Hospital.
Yöntem
This retrospective study covers 863 genetic amniocentesis performed cases between 1998-2001 in our hospital. These cases had firstly referred from Antenatal outpatient clinics to High Risk Pregnancy Outpatient clinic. After obstetric evaluation, all cases had referred to the Genetics outpatient clinic for genetic counseling. Amniocentesis had been performed in High Risk Pregnancy Department and amniotic fluids had been evaluated in Genetics Laboratory.
Bulgular
863-amniotic fluid materials had been analyzed. indications of these cases were listed in Table 1. 798 of them presented normal fetal karyotype (373 cases were 46,XX and 439 cases were 46,XY) while 46 of presented abnormal karyotype (%5,3) (Table 2). 21 Down syndrome cases, 5 trisomy 18, 4 trisomy 13, 6 translocations, 2 pericentric inversions, 1 triploidy, 3 sex chromosome anoploidy, 1 deletion,1 duplication, 1 Angleman syndrome and 1 46,X,+21/47,X,+21,+mar (Y chromosome) were detected. 19 cases could not reported at the first time and reamniocentesis was performed 14 of them and reported at the second study. 6 out of 19 cases were presented slow culture and 13 cases were contaminated.
Sonuç
The greatest group of indication was maternal age (35 and up) and there were 396 cases in this group while 20 had chromosomal abnormalities (% 5.05). Abnormal karyotypes were detected nearly in all groups but the most effective indications were ultrasound abnormalities, parental translocations and poor obstetric history. There are so few cases in the group of elevated AFP that, the detection rate of this group is worthless.
Anahtar Kelimeler
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Dosya / Açıklama |
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Tablo 1 Distribution and detection rate of indications |
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Tablo 2 Distribution of abnormal karyotypes |