1 Fertility, Infertility and Perinatology Research Center, Ahvaz Jundishapur University of Medical
Fertility, Infertility and Perinatology Research Center, Ahvaz Jundishapur University of Medical
Purpose: This study aimed to compare CGH array and karyotype for prenatal diagnosis in high-risk individuals in the first trimester screening.
Materials and Methods: The present cross-sectional descriptive prospective study was performed on high-risk mothers screened in the first trimester of pregnancy. Individuals were allocated into two groups under karyotype and CGH array. Because this study is based on genetic testing data, it does not require a follow-up. Information on age, number of pregnancies, history of abortion, history of disease and screening results were collected and analyzed. Data analysis was done using SPSS Version 22 (IBM).
Results: In total 247 cases were analyzed with 128 cases in the karyotype group and 119 cases in the CGH group. 116 samples (90.6%) in the karyotype group and 99 samples (83.2%) in the CGH group showed a normal karyotype. 4.2% (5 samples) and 7.9% (10 samples) of chromosomal abnormalities were trisomy in the CGH group and the karyotype group, respectively. CGH array analysis on chromosomal abnormalities identified copy number variation (CNV) in about 9.2% (11 samples) of cases. In terms of risk factors structural chromosomal, there was a statistically significant relationship in terms of history of disabled children in the family, maternal age, history of anomalies, screening of the first trimester of pregnancy, and increased NT (p<0.05).
Conclusions: High-resolution arrays specifically prevented fetal malformations. Until now, normal prenatal chromosome analysis has been shown a relatively standard method but CGH may be helpful to specialists in diagnosing chromosomal abnormalities, especially in unknown chromosomal abnormalities.
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