Chromosomal abnormality: Prevalence, prenatal diagnosis and associated anomalies based on a provincial‐wide birth defects monitoring system

Abstract

Aim To investigate the epidemiology of chromosomal abnormalities (CA) in fetuses of all pregnancies based on a provincial‐wide birth defects‐monitoring system, which could provide scientific basis for making relatively policy and research. Methods Chromosomal abnormalities cases were collected from all hospitals in Hunan Province, China, between 2016 and 2019. The prevalence of CAs was calculated to examine associations among infant sex, maternal age and region. The rates of prenatal diagnosis and termination of pregnancy (TOP) involving CA or associated anomalies were calculated as rates or proportions. Results From 2016 to 2019, a total of 2 883 890 perinatal infants (28 weeks of gestation to postpartum 7 days) underwent prenatal screening and diagnostic tests, and 3181 fetuses were diagnosed as CA, with the prevalence of 11.03/10 000. The average prevalence of CAs was higher for male than female fetuses (11.33/10 000 vs 10.06/10 000) (OR = 1.13, 95% CI: 1.05–1.21), which was higher in urban areas than rural areas (23.03/10 000 vs 7.13/10 000) (OR = 3.23, 95% CI: 3.02–3.47), and the prevalence increased linearly with maternal age (Xtrend2 = 1821.844, P = 0.000). Among the fetuses with CAs, 3097 (97.36%) were diagnosed prenatally, and 3046 (98.35%) underwent TOP. The majority of CA were numerical abnormalities (90.18%). The main types of numerical autosomal abnormalities were trisomy 21 (6.69/10 000, 59.57%), trisomy 18 (1.13/10 000, 10.04%) and trisomy 13 (0.21/10 000, 1.88%). The main types of numerical gonosomal abnormalities were Klinefelter syndrome (0.68/10 000, 6.02%), Turner syndrome (0.49/10 000, 4.39%), Triple X syndrome (0.26/10 000, 2.29%) and 47,XYY syndrome (0.21/10 000, 1.91%). The three associated anomalies with the highest proportions were congenital heart defects (CHD) (41.06%), cleft palate or/and cleft lip (10.89%) and congenital talipes equinovarus (8.94%). Conclusion The prevalence of CA was lower than that reported. Chromosome detection should be further promoted including test contest and coverage, especially for urban areas, older mothers and fetuses with CHD, cleft palate or/and cleft lip or congenital talipes equinovarus.

Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patients

“…[11][12][13] Many studies in the literature have revealed the incidence of prenatal chromosomal anomalies. [14][15][16][17][18][19] However, few studies have focused on postnatal chromosomal abnormalities. 20,21 In this study to fill this gap in the literature, we aimed to reveal the postnatal chromosomal anomaly rate in our cohort.…”

“…Patients with chromosomal abnormalities that cause symptoms such as amenorrhea, recurrent pregnancy loss, and infertility can be diagnosed in the pubertal and post‐pubertal period, which is usually the period when their complaints occur 11–13 . Many studies in the literature have revealed the incidence of prenatal chromosomal anomalies 14–19 …”

A retrospective single-center analysis of prenatal diagnosis and follow-up of 626 chinese patients with positive non-invasive prenatal screening results

“…Approximately 80% of congenital disability cases have unknown causes; however, strong evidence suggests that genetic conditions contribute to their etiologies ( Feldkamp et al, 2017 ; Sun et al, 2018 ). Chromosomal abnormalities such as trisomies 21 (T21), 18 (T18), and 13 (T13) and sex chromosome aneuploidies (SCAs) are the main causes of congenital disabilities ( Xie et al, 2021 ). In addition, multiple lines of evidence indicate that copy number variants (CNVs) in submicroscopic chromosomal structures can also play an important role in the etiology of some congenital disability cases ( Lupo et al, 2019 ) ( Hobbs et al, 2014 ).…”

Comparison of fetal and maternal tissue elasticity between euploid and aneuploid pregnancies by shear wave elastography

“…Chromosomal abnormalities are seen in 11-55 of 10 000 births and adversely affect fetal and postnatal life, causing mortality or severe morbidities. 1,2 The most common chromosomal abnormalities are Trisomy 21, Trisomy 18, and Trisomy 13, seen in 1/700, 1/2500, and 1/5000 births, respectively. [3][4][5] Prenatal screening is established for these major abnormalities using serum markers, fetal DNA in maternal blood, and ultrasound findings.…”

“…Chromosomal abnormalities are seen in 11–55 of 10 000 births and adversely affect fetal and postnatal life, causing mortality or severe morbidities 1,2 . The most common chromosomal abnormalities are Trisomy 21, Trisomy 18, and Trisomy 13, seen in 1/700, 1/2500, and 1/5000 births, respectively 3–5 .…”