Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

Abstract

Background In the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal abnormalities increased exponentially with the maternal age. These risks in the advanced maternal age (AMA) group are uncertain. This study aimed to determine the incidence of ARSA in Chinese AMA and non-AMA women and the frequency of aneuploidy among AMA and non-AMA women with ARSA. Methods This retrospective study included 13,690 singleton pregnancies, were divided into AMA and non-AMA groups. Integrated obstetric ultrasonic screening, biochemical screening, noninvasive prenatal screening, and fetal karyotype analysis were analyzed. Results The overall incidence of ARSA was 0.69%, with no difference between age groups. The incidence of chromosomal abnormalities in the AMA group (37 / 2860) was much higher than that of the non-AMA group. The risk of chromosomal abnormalities significantly increased with both ARSA detected and additional ultrasound findings. With combined ARSA and AMA, the likelihood of the incidence of chromosomal abnormalities increased. Chimerism (45X / 46XX) was found with isolated ARSA in AMA pregnancies. Conclusion There is a high prevalence of chromosomal abnormalities in fetuses of AMA women. ARSA increases the risk of chromosomal abnormalities in both age groups, especially combined with ARSA. When ARSA occurs in AMA women, it confers a high likelihood of chromosomal abnormalities.

Prenatal genetic analysis of fetal aberrant right subclavian artery with or without additional ultrasound anomalies in a third level referral center

“…In our data set, the incidence of abnormal karyotypes and clinically significant microarray results in the AMA group was 15.1% (8/53) and 24.5% (13/53), respectively, and in the YMA group, the incidence was 3.5% (10/287) and 8.4% (24/287), respectively. There is significant difference in the incidence rate of abnormal karyotypes and clinically significant microarray results between the two groups ( p < 0.05), our data also confirm the point 46 .…”

“…An AMA was significantly associated with the incidence of chromosomal abnormality, particularly autosomal trisomies 45 . In addition, Chen LP, et al 46 showed that with combined ARSA and AMA, the likelihood of the incidence of abnormal karyotype increased, and the frequency of abnormal karyotype was much higher in the AMA group than that in the YMA Group.…”

Aberrant right subclavian artery: embryology, prenatal diagnosis and clinical significance

“…Two were associated with other sonographic abnormalities (hypoplastic left heart and Dandy-Walker malformation). A Chinese study from 2021 17 specifically looked at the incidence of ARSA and the predictive value of ARSA for fetal chromosomal abnormalities in women of advanced maternal age (AMA). They retrospectively collected data from 13,690 singleton pregnancies, from 2015 to 2018.…”