Abstract
Central nervous system (CNS) abnormalities are often isolated but can accompany various genetic syndromes. In this study, we evaluated conventional karyotype results and associated findings of fetuses that were diagnosed with CNS abnormalities. Cases included in the study were diagnosed with fetal CNS anomalies and underwent conventional karyotyping. Conventional karyotype results of subjects were compared with karyotype results of fetal karyotyped patients as a result of maternal anxiety in a two-year period. In this period, 69 patients were diagnosed with fetal CNS anomalies and 64 of them underwent invasive fetal karyotyping. Of these, 32 patients had isolated CNS anomalies, while 32 were associated with other anomalies. There was no significant difference between karyotype results when compared with the control group (p = 0.76). Apart from some specific anomalies, the aneuploidy rate does not significantly differ between fetuses with CNS anomalies and the control group. Advanced genetic evaluation may provide additional diagnostic benefits, especially for this group.
Highlights
Central nervous system (CNS) anomalies are the most common congenital anomalies.Their prevalence is 0.14–0.16% in live births, this can be as high as 3–6% in stillbirths [1]. the etiology of CNS anomalies is highly heterogeneous and multifactorial, genetic disorders are of great significance to the etiology [2]
We evaluated conventional G-band karyotype results of fetuses with CNS anomalies that were diagnosed in a two-year period in our center as well as other system anomalies associated with these karyotypes
Our objective was to estimate the prevalence of abnormal karyotypes with conventional G-band karyotyping in fetuses with CNS anomalies and compare the results with the control group
Summary
Central nervous system (CNS) anomalies are the most common congenital anomalies.Their prevalence is 0.14–0.16% in live births, this can be as high as 3–6% in stillbirths [1]. the etiology of CNS anomalies is highly heterogeneous and multifactorial, genetic disorders are of great significance to the etiology [2]. Central nervous system (CNS) anomalies are the most common congenital anomalies. Their prevalence is 0.14–0.16% in live births, this can be as high as 3–6% in stillbirths [1]. The etiology of CNS anomalies is highly heterogeneous and multifactorial, genetic disorders are of great significance to the etiology [2]. CNS anomalies develop due to the mutagenic effects of environmental factors, genetic etiology would emerge to be more important [3]. The association of certain CNS anomalies with Trisomy 13 and Trisomy 18 has been proven in various studies [4]. Determining the genetic etiology of such anomalies is important for both counseling about existing pregnancy and recurrence risk in subsequent pregnancies
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