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F34Early prenatal diagnosis of chromosomal defects: value of sonographic markers
Author(s) -
Galindo A.,
Puente J. M.,
Gómez M. J.,
Moreno A.,
Fernández J.,
Alvarez C.,
Grañeras A.,
Barreiro E.
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.1469-0705.2000.00015-1-34.x
Subject(s) - medicine , amniocentesis , prenatal diagnosis , gynecology , obstetrics , fetus , pregnancy , genetics , biology
Aim To evaluate the role of early sonographic markers (SM) of chromosomal defects combined with maternal age (MA). Methods Retrospective study of 1470 amniocentesis performed in high‐risk patients mainly because of advanced MA from Jan.97‐Dec.99. SM of chromosomal defects are routinely searched for at first scan at 11–14 weeks. We analyze the association between chromosomal defects and MA regarding the existence of SM. Results Overall chromosomal defects rate was 4.6% (66/1470). SM were detected in 147 cases (10%) and, regardless of MA, a chromosomal defect was diagnosed in 44 of these cases (30%). Of the 1323 cases without SM the rate of chromosomal abnormalities was 1.5% (20 cases) ( P < 0001). When MA was = 35 years, the rate of chromosomal defects in cases with SM was 35.2% (19/54) and in those without SM 1.8% (20/1125) ( P < 0001). No significant differences were found in cases with SM as a function of MA neither in cases without SM. The number and percentage of chromosomal defects according to MA and SM are expressed in the Table .Age < 35 35 36 37 38 39 = 40SM+ 25/91 1/7 2/13 1/5 – 5/6 10/23 27% 14% 15% 20% 83% 43% SM– 2/198 3/102 5/207 1/262 6/204 2/158 3/192 1% 3% 2% 0,4% 3% 1% 2%14 out of the 20 cases of chromosomal defects (70%) diagnosed in fetuses without SM were sexual aneuploidies or structural defects while the remaining 6 were trisomies 21 (30%). By contrast, in cases with SM were mainly trisomies 21, 18, 13 and 45X0. Conclusions SM are best correlated with chromosomal defects than other risk factors (RR = 15). However, when risk factors other than SM are present, fetal karyotype analysis is still also indicated.