Risk Assessment for Birth Defects in Offspring of Chinese Pregnant Women

Abstract

Objective: This study aimed to develop a nomogram for the risk assessment of any type of birth defect in offspring using a large birth-defect database in Northwest China. Methods: This study was based on a birth-defect survey, which included 29,204 eligible women who were pregnant between 2010 and 2013 in the Shaanxi province of Northwest China. The participants from central Shaanxi province were assigned to the training group, while the subjects from the south and north of Shaanxi province were assigned to the external validation group. The primary outcome was the occurrence of any type of birth defect in the offspring. A multivariate logistic regression model was used to establish a prediction nomogram, while the discrimination and calibration were evaluated by external validation. Results: The multivariate analyses revealed that household registration, history of miscarriages, family history of birth defects, infection, taking medicine, pesticide exposure, folic acid supplementation, and single/twin pregnancy were significant factors in the occurrence of birth defects. The area under the receiver operating characteristic curve (AUC) in the prediction model was 0.682 (95% CI 0.653 to 0.710) in the training set. The validation set showed moderate discrimination, with an AUC of 0.651 (95% CI 0.614 to 0.689). Additionally, the prediction model had a good calibration (HL χ2 = 8.106, p= 0.323). Conclusions: We developed a nomogram risk model for any type of birth defect in a Chinese population based on important modifying factors in pregnant women. This risk-prediction model could be a tool for clinicians to assess the risk of birth defects and promote health education.

Epidemiology of birth defects based on a birth defects surveillance system in southwestern China and the associated risk factors

“…These factors might play a key role in the increased risk of having a fetus with BDs (38). It has been evident that BDs might be influenced by maternal age (34) and education level (39), illness during early pregnancy (40), and family history of the disorder (12). Maternal age should be taken into account when analyzing the potential risk factors of BDs.…”

“…It is widely known that fetal death is one of the adverse consequences of BDs (16). A family history of fetal birth in pregnant women is generally identified as a risk factor for BDs, which will greatly increase the probability of PIs with BDs (OR = 3.84, 95% CI: 1.64-8.96) (12,49). Especially, having three or more PIs with BDs is a stronger risk factor of a family history of BDs (49).…”

“…It is well known that approximately 65.00%-70.00% of BDs are ascribed to complex genetics with unknown factors (2). Several researchers have also shown that the potential associated risk factors of BDs included maternal age, gravidity, parity, monthly income of the family, education level of pregnant women (11), household registration, history of miscarriages, family history of BDs, infection, taking medicine, pesticide exposure, and single/twin pregnancy (12). Therefore, how to effectively prevent BDs has become very urgent and important.…”

Assessment of Diagnostic Value of 4D Ultrasound in Evaluation of Congenital Fetal Abdominal and Genitourinary Anomalies

“…This was consistent with Mekonnen et al, [27].who found that only 10 cases (7.4%) out of 160 cases reported a family history of anomalies. On the other hand, Qu et al, [28] stated that a family history of birth defects has been associated with an increased recurrence risk of congenital anomalies.…”