Although it has been known that fetal chromosomal abnormality was frequently accompanied by polymalformation, amniotic fluid disorder and growth retardation, the relationship between these two has not been made clear yet.
CVS or amniocentesis has been increasingly applied to the high-risk pregnant woman in genetic aspects to detect chromosomal abnormality of fetus, but it has been found that infants with congenital anomaly or chromosomal abnormality were often
delivered
by low-risk pregnant woman.
To study the relationship between fetal chromosomal abnormality and abnormal sonographic findings will therefore contribute to not having untreatable neonate delivered and thereby keep the individual and society from the unhappiness.
We report sonographic findings and clinical reports of 31 cases with aneuploidy among 152 cases which prenatal and postnatal chromosomal analysis and genetic counselling were performed after ultrasound diagnosis about abnormal findings between
July
1988
and August 1993. We selected as a control that 60 amniocentesis were processed by the our department for prenatal diagnosis in mother aged 35 and over during the same period.
1. Among 152 cases with abnormal sonographic findings. The frequency of chromosonal abnormality was significantly higher than control group (20.4% in the abnormal group versus 6.7% in the control group. P<0.05).
2. The sonographic findings such as cystic hygroma, IUGR, omphalocele, CHD, in creased space of cisterna magna, small stomach size & hydramnios were regarded as important indication of prenatal chromosomal analysis.
3. 15 cases(48.4%) out of 31 cases with chromosomal abnormality were evaluated as MSAFP. Among them, autosomal trisomy & triploidy were evaluated as having MSAFP less than a 0.5 multiple of median.
Therefore it may be sure that antenatal MSAFP screening program is a very meaningful method for evaluation of congenital malformation and chromosomal aneuploidy in the fetus. And also abnormal ultrasonographic findings especially cystic hygroma,
severe
IUGR and multiple abnormalities were major indications of prenatal chromosomal analysis and genetic counselling.
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