Investigation of the Frequencies of Prenatally Diagnosed Fetal Chromosomal Abnormalities at a Single Institution

Abstract

The objective of this study was to investigate, retrospectively, the frequencies of fetal chromosomal abnormalities identified in 4176 prenatal cytogenetic examinations at the Xiamen Maternity and Child Health Care Hospital over the 5-year period from October 2005 to September 2010. The frequency of abnormal fetal karyotypes was 4.6%. Numerical chromosome abnormalities were identified in 150 cases. The frequency of trisomy 21 was by far the highest, followed by trisomy 18. Structural aberrations of chromosomes were identified in 43 cases, including 21 cases with balanced and 22 cases with unbalanced chromosomal aberrations. In addition, 16 cases of apparently de novo chromosomal aberrations and 27 cases of familial inheritances were observed. Increased awareness of the frequencies of fetal chromosome abnormalities is important for the improvement of prenatal care and providing the options of termination or continuation of the pregnancy. Data obtained in this study provide the basis of a database for genetic counseling.

Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling

“…Sheth et al (2015) detected abnormal karyotypes in 125/1728 cases (7.2%), with structural abnormalities such as reciprocal and Robertsonian translocation detected in 20 cases (1.2%). Wu et al (2013) reported an abnormal fetal karyotype frequency of 4.6%. Structural aberrations of chromosomes were identified in 43 cases, including 21 cases (0.5%) of balanced reciprocal translocation.…”