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| Analysis of the birth defect trend and the prenatal diagnosis results under new screening mode |
| International Peace Maternal and Child Health Hospital of Medical College, Shanghai Jiaotong University, Shanghai Key Laboratory of Embryo Original Diseases, Shanghai，200030 |
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Abstract To analyze the incidence of birth defects trend under new screening mode. Methods：3471 birth defect diagnosed from January 1, 2009 to December 31, 2018 were analyzed retrospectively. Results：The incidence of birth defects in international peace maternal and child health hospital had showed an upward trend from 2009 to 2018, among which, the incidence of congenital heart disease of the newborns always ranked first. Under the new screening mode, the proportions of simple chromosome abnormality and urological malformation of the newborns had increased. The abnormal rate of prenatal diagnosis， such as congenital heart disease, congenital diaphragmatic hernia, limb shortening, limb skeletal dysplasia, and cleft lip of the newborns had increased significantly, which had reached 52.7% in 2018. The prenatal diagnosis rates of complex congenital heart disease of the newborns from 2015 to now were 100%. Small malformations, such as cleft palate, rectoanal atresia or stenosis, and multiple fingers of the newborns were difficult to diagnose prenatally. Conclusion：With the development of non-invasive prenatal testing (NIPT), interventional prenatal diagnostic techniques, fetal cardiac ultrasound, and fetal magnetic resonance imaging (MRI), the incidences of fetal chromosome abnormality and urinary malformation by prenatal diagnosis have increased. The prenatal diagnosis rates of congenital heart disease, congenital diaphragmic hernia, cleft lip, and other malformations of the newborns increase, but small malformations, such as cleft palate, rectoanal atresia or stenosis, and multiple fingers of the newborns by prenatal diagnosis are still difficult.
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