Prenatal diagnosis of genetic etiology in fetal structural malformations / 中华围产医学杂志

ABSTRACT

Genetic variation is an important cause of fetal structural abnormalities, which account for more than half of birth defects in China. Prenatal ultrasound examination is the main method to detect/diagnose fetal structural malformations, and accurate genetic diagnosis provides the basis for prenatal counseling and subsequent management for fetuses with ultrasound abnormalities. At present, ultrasound morphological diagnosis combined with genetic analysis is the main prenatal diagnostic strategy. Practitioners should strengthen the theoretical knowledge and accurately grasp the technical standards for fetal ultrasound screening and genetic diagnosis, which are critical to improve the efficiency of prenatal diagnosis in clinical practice.