Midtrimester Amniocentesis for Prenatal Diagnosis.
- Author:
Sook Ryung KIM
1
;
Eun Jung CHOI
;
Tae Yoon KIM
;
Kyoung Hun KWON
;
Nam Hee SONG
;
Sun Kyung OH
;
Hee Jun CHI
Author Information
1. Mizmedi Hospital Infertility Research Center, Korea. ivf129@mizmedi.net
- Publication Type:Original Article
- Keywords:
Amniocentesis;
Chromosomal abnormality
- MeSH:
Amniocentesis;
Biomarkers;
Chromosome Aberrations;
Cytogenetics;
Down Syndrome;
Female;
Humans;
Karyotype;
Maternal Age;
Mosaicism;
Pregnancy;
Pregnancy Trimester, Second;
Prenatal Diagnosis;
Trisomy
- From:Journal of Genetic Medicine
2008;5(2):125-130
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PROPOSE: To analyze the indications and cytogenetic results of midtrimester amniocentesis. MATERIAL AND METHODS: This study reviewed 2,523 cases of midtrimester prenatal genetic amniocentesis performed at MizMedi Hospital between January 2000 and December 2007. RESULTS: The most frequent indication for midtrimester amniocentesis was advanced maternal age (45.9%), followed by positive serum markers (29.9%). Chromosomal aberrations were diagnosed in 110 cases (4.4%), for which numerical aberration accounted for 38 cases (34.5%), structural aberration accounted for 65 cases (59.1%), and mosaicism accounted for 7 cases (6.4%). Among the autosomal aberrations, there were 20 cases of trisomy 21 and 8 cases of trisomy 18. With respect to structural aberrations, there were 14 cases of reciprocal translocation and 8 cases of robertsonian translocation. The frequencies of chromosomal aberrations according to the indication were highest in individuals with a family history of chromosome abnormality 14.0% (8/57) followed by previous congenital anomaly 5.9% (2/34). CONCLUSION: Midtrimester amniocentesis is an effective tool for prenatal diagnosis. Indications such as advanced maternal age, maternal serum markers, and ultrasound are important for predicting abnormal fetal karyotypes.
