Association of Fetal and Parental Chromosomal Abnormalities with Congenital Anomalies

Background & Aims: Chromosome abnormalities are a major cause of miscarriage and neonatal mortality. The present study aimed to determine the association of fetal and parents chromosomal abnormalities with congenital anomalies. Methods: A cross-sectional study was performed in a tertiary referral center (Afzalipour Hospital) over 16 months period (2011-2012). The study groups consisted of 77 fetuses over 14 weeks and their parents. Fetuses had apparent anomaly after abortion or birth, or showed a defect organs in targeted sonographic examination. DNA extractions were from fetus tissues for investigation of chromosome abnormalities using (multiplex ligation-dependent probe amplification) MLPA. Cytogenetic analysis for parents was performed with G-banding technique. Eventually data were analyzed by statistical software SPSS using t-test, chisquare and logistic regression. Results: Karyotyping of fetus was 46xx in 27 (35.9%) and 46xy in 25 (32.1%) cases. Twenty-five fetuses had chromosomal abnormalities. The common chromosomal abnormalities were multiple deletion and duplication on different chromosomes in 4 (6.5%) and Down syndrome in 3 (3.9%) of them. This study showed a statistically significant association between the extremity anomalies (P=0.0070), oligohydroamnious (P=0.0050), ascitis (P=0.0001), increased nuchal translucency (P=0.0001), esophageal atresia (P=0.0070), duodenal atresia (P=0.0001), polycystic kidney (P=0.0070), echogenic bowel (P=0.0001), plural effusion (P=0.0001) and cardiomegaly (P=0.0010). There were no statistically significant association between the chromosomal abnormalities in fetus and parents (P=0.5700). Conclusion: In our study, there was no association between the chromosomal abnormalities in fetus and parents. It can be concluded that many chromosomal defects occur during the formation of sperm or ovum. Detection of major congenital malformations should draw attention to the possibility of a chromosomal disorder in fetus. Therefore, MLPA is a low cost method for detecting a wide range of the most common chromosomal disorders in a short time.