Title:The Relationship between Prenatal Diagnosis Indications and Abnormal Chromosomal Karyotypes: A Retrospective Cohort of 4646 Cases in Beijing from 2012-2019
Volume: 21
Issue: 14
Author(s): Xiaoting Liu, Wenling Zhang, Liwen Zhang, Ying Ma, Zhiying Gao, Yanqin You*Chengbin Wang*
Affiliation:
- Department of Obstetrics and Gynecology, First Medical Center of Chinese PLA General Hospital, Beijing,China
- Clinical Laboratory, First Medical Center of Chinese PLA General Hospital, Beijing,China
Keywords:
Karyotype analysis, Prenatal diagnosis, Amniotic fluid, Advanced maternal age, Maternal serum screening, NIPT.
Abstract:
Background and Objective: Chromosomal abnormalities are one of the genetic disorders
caused by abnormal chromosome number or structure and can endanger multiple organs, morphology
and function of the systems in the human body. This study aims to investigate the relationship
between prenatal diagnosis indications and abnormal karyotypes to improve prenatal screening.
Methods: The karyotype analyses were carried out on 4646 pregnant women with prenatal diagnosis
indications referred to the first medical center of Chinese PLA General Hospital from 2012 to
2019. The incidence, distribution, and statistical features of chromosomal abnormality of different
prenatal diagnosis indications were analyzed, and the relationships with the prenatal diagnosis indications
were assessed.
Results: A total of 351 fetal chromosomal abnormalities were detected in 4646 karyotypes, with an
incidence of 7.6%. The chromosomal abnormality incidence in the single indication group, two indications
group, and three indications group was 5.8%, 16.1%, and 70.0%, respectively, indicating
a statistically significant difference (p < 0.05). Advanced maternal age (AMA), high-risk maternal
serum screening (MSS), and non-invasive prenatal DNA testing (NIPT) were the important indications
for predicting abnormal karyotype. The number of prenatal diagnosis indications was highly
correlated with fetal chromosomal abnormalities. The overall incidence of chromosomal abnormalities
showed a tendency to increase with age. The incidence of Trisomy 21 was 3.2%, accounting
for 42.5% of all chromosomal abnormalities, and the incidence tended to increase with maternal
age.
Conclusion: Prenatal karyotype analysis of pregnant women with prenatal diagnosis indications
can effectively prevent the birth of defective children. AMA, MSS and NIPT were the important indications
for predicting abnormal karyotype. In addition, the number of prenatal diagnosis indications
is highly correlated with chromosomal abnormalities.
