Prenatal cytogenetic diagnosis in Taiwan: a nationwide population-based study.
OBJECTIVE
The goal of this study was to gain a better understanding of the status of advanced maternal age among criteria for provision of amniocentesis in pregnant women in Taiwan.


METHODS
Data of 315 670 second-trimester amniocenteses from 28 national certified cytogenetics laboratories were retrospectively analyzed from the Prenatal Genetic Diagnosis Declaring and Database System of the Health Promotion Administration, Ministry of Health and Welfare in Taiwan between 2006 and 2013.


RESULTS
The number of pregnant women undergoing amniocentesis in Taiwan between 2006 and 2013 increased, and the most common three indications for amniocentesis were advance maternal age (75.11%), abnormal second trimester maternal serum screening (13.22%) and abnormal sonographic finding (8.00%). Down syndrome was the most common autosomal abnormality identified (25.74%); Turner syndrome was the most common sex chromosome abnormality (7.04%). Of structural rearrangements, 26.93% were balanced translocations and 17.10% were unbalanced translocations. The greatest proportion of fetal chromosomal abnormalities was found in cases where parents were also affected (38.02%).


CONCLUSIONS
Clinical workers should provide detailed genetic diagnostic information to pregnant women, especially those with the common amniocentesis indications, which will enable them to determine a birth plan.
a Institute of Medicine, Chung Shan Medical University , Taichung , Taiwan.|b Department of Critical Care Medicine , Chung Shan Medical University Hospital , Taichung , Taiwan.|c Department of Nursing , Chung Shan Medical University Hospital , Taichung , Taiwan.
Hua-Pin
HP
Chang
d School of Health Policy and Management, Chung Shan Medical University , Taichung , Taiwan.
Jeng-Yuan
JY
Chiou
a Institute of Medicine, Chung Shan Medical University , Taichung , Taiwan.|e School of Medicine, Chung Shan Medical University , Taichung , Taiwan , and.|f Department of Pediatrics , Chung Shan Medical University Hospital , Taichung , Taiwan.
Jia-Yuh
JY
Chen
b Department of Critical Care Medicine , Chung Shan Medical University Hospital , Taichung , Taiwan.|e School of Medicine, Chung Shan Medical University , Taichung , Taiwan , and.|f Department of Pediatrics , Chung Shan Medical University Hospital , Taichung , Taiwan.
Pen-Hua
PH
Su
D000328:Adult; D000649:Amniocentesis / Q000706:statistics & numerical data*; D002869:Chromosome Aberrations / Q000706:statistics & numerical data*; D005260:Female; D006801:Humans; D008423:Maternal Age; D011247:Pregnancy; D013624:Taiwan
Amniocentesis; chromosomal abnormality; maternal age; nuchal translucency; pregnancy; prenatal examination