J Genet Med.  2011 Jun;8(1):44-52. 10.5734/JGM.2011.8.1.44.

Incidence and Spectrum of Chromosomal Abnormalities associated with Spontaneous Abortions in Korea: 470 Products of Conception over a Period of 6 Years (2005-2010)

• Han SH
• An JW
• Yang YH
• Kim YJ
• Cho HI
• Lee KR

• KMID: 1851090
• DOI: http://doi.org/10.5734/JGM.2011.8.1.44

Abstract

PURPOSE
Cytogenetic analysis of spontaneous abortions (SABs) provides valuable information to establish the causes of fetal loss, information that is essential to provide accurate reproductive and genetic counseling couples. Such analysis also provides information on the frequencies and types of chromosomal abnormalities and associated risks of recurrence. However, there have only been a few reports of chromosomal abnormalities in small samples of SABs in the Korean population. Here, we report the incidence and spectrum of chromosomal abnormalities for cases of 470 SAB in Korea.
MATERIALS AND METHODS
Between 2005 and 2010, a total of 470 products of conception (POC) resulting from SABs were submitted to our laboratory for cytogenetic analysis from various medical sites in Korea. The incidences and types of specific chromosomal abnormalities were determined. The abnormalities were distinguished by gestational age at the time of SAB and by maternal age.
RESULTS
The frequency of chromosomal abnormalities in POCs was 54.3% (255/470), including 228 (89.3%) numerical and 27 (10.7%: 3 balanced and 24 unbalanced) structural abnormalities. Among the numerical abnormalities, trisomy was predominant (67.0%), followed by monosomy X (12.5%), polyploidy (8.2%), triple X (0.8%), and autosomal monosomy (0.8%). The overall sex ratio (male: female) among the 470 POCs with normal and abnormal karyotypes were 0.58 and 0.65, respectively. Trisomies were identified for each autosome, with the exceptions of 1, 3, and 19. Among the 171 autosomal trisomies, trisomy 16 was the most common (19.9%), followed by trisomy 22 (13.5%), trisomy 21 (12.3%), trisomy 15 (9.9%), and trisomies 18 and 13 (5.3%). The frequency of chromosomal abnormalities decreased with gestational age and increased with maternal age, but only because of increases in trisomies and complex abnormalities.
CONCLUSIONS
We have presented a large collection of cytogenetic data for SABs collected during the past 6 years and provided a database for prenatal genetic counseling of parents who have experienced SABs in Korea.

Keyword

Spontaneous abortions; Products of conception; Karyotype; Chromosome abnormalities

MeSH Terms

Abnormal Karyotype
Abortion, Spontaneous
Chromosome Aberrations
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 22
Cytogenetic Analysis
Cytogenetics
Down Syndrome
Family Characteristics
Female
Fertilization
Genetic Counseling
Gestational Age
Humans
Incidence
Karyotype
Korea
Maternal Age
Monosomy
Mosaicism
Parents
Polyploidy
Pregnancy
Recurrence
Sex Ratio
Trisomy
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 22
Mosaicism
Trisomy