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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. Introduction Central nervous system (CNS) anomalies are the most common congenital anomalies.

Their prevalence is 0.14–0.16% in live births, although this can be as high as 3–6% in stillbirths []. Although the etiology of CNS anomalies is highly heterogeneous and multifactorial, genetic disorders are of great significance to the etiology []. There has been a significant drop in neural tube defect cases due to the more widespread use of folic acid in recent years. However, when considering that CNS anomalies develop due to the mutagenic effects of environmental factors, genetic etiology would emerge to be more important [].

Optitex cad softwae free download crake. The association of certain CNS anomalies with Trisomy 13 and Trisomy 18 has been proven in various studies []. Download naruto shippuden the movie 4 subtitle indonesia. Determining the genetic etiology of such anomalies is important for both counseling about existing pregnancy and recurrence risk in subsequent pregnancies. Nowadays, the submicroscopic evaluation of chromosomes has gained attention in perinatal medicine. Despite the effectiveness of conventional G-band karyotyping in finding aneuploidies that are major numeric chromosomal disorders and chromosomal deletions larger than 5 Mb (mega-base), this is not efficient for diagnosing minor deletions []. Nevertheless, this is still the first choice for genetic testing when an anomaly is detected by ultrasound.