Assisted reproductive technology (ART) has been widely used among women with infertility. However, the association of ART with birth defects and stillbirth remains controversial and has rarely been reported in China. A retrospective cohort study of 112,043 pregnant women and 114,522 newborns from 2006 to 2016 was performed. Compared to spontaneously conceived infants, ART-conceived infants had a higher likelihood of any birth defect, with an adjusted odds ratio (OR) of 2.10 (95% confidence interval, 1.63–2.69). ART-conceived infants also had a significantly increased risk for subcategories of cardiovascular, musculoskeletal, urogenital, gastrointestinal, and respiratory defects. Most (62.25%) of the effect of ART on birth defects was a direct effect, whereas 37.75% of the effect of ART on birth defects was due to multiple pregnancies (i.e., an indirect effect). Compared with naturally conceived singletons, the combined effect of ART and twins on the risk of birth defects was lower than that of the sum of the individual effects of ART and twins on the risk of birth defects, with an adjusted OR of 0.54 (0.32–0.92). These findings clearly show that ART is associated with an increased risk of birth defects in China and may provide guidance to couples and obstetricians in selecting numbers of pregnancies and in identifying organs at a high risk of birth defects.

Background The prevalence of preterm birth has been rising, and there is a paucity of nationwide data on the perinatal characteristics and neonatal outcomes of twin deliveries of very preterm infants (VPIs) in China. This study compared the perinatal characteristics and outcomes of singletons and twins admitted to neonatal intensive care units (NICUs) in China. Methods The study population comprised all infants born before 32 weeks in the Chinese Neonatal Network (CHNN) between January 2019 and December 2019. Three-level and population-average generalized estimating equation (GEE)/alternating logistic regression (ALR) models were used to determine the association of twins with neonatal morbidities and the use of NICU resources. Results During the study period, there were 6634 (71.2%) singletons and 2680 (28.8%) twins, with mean birth weights of 1333.70 g and 1294.63 g, respectively. Twins were significantly more likely to be delivered by caesarean section (p < 0.01), have antenatal steroid usage (p = 0.048), have been conceived by assisted reproductive technology (ART) (p < 0.01), have a higher prevalence of maternal diabetes (p < 0.01) and be inborn (p < 0.01) than singletons. In addition, twins had a lower prevalence of small for gestational age, maternal hypertension, and primigravida mothers than singletons (all p < 0.01). After adjusting for potential confounders, twins had higher mortality rates (adjusted odds ratio [AOR] 1.28, 95% confidence interval [CI] 1.10–1.49), higher incidences of short-term composite outcomes (AOR 1.28, 95% CI 1.09–1.50), respiratory distress syndrome (RDS) (AOR 1.30, 95% CI 1.12–1.50), and bronchopulmonary dysplasia (BPD) (AOR 1.10, 95% CI 1.01–1.21), more surfactant usage (AOR 1.22, 95% CI 1.05–1.41) and prolonged hospital stays (adjusted mean ratio 1.03, 95% CI 1.00–1.06), compared to singletons. Conclusion Our work suggests that twins have a greater risk of mortality, a higher incidence of RDS and BPD, more surfactant usage, and longer NICU stays than singletons among VPIs in China.

BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder. AS patients concomitant with sSMC are rather rare events. It will provide more useful and proper information for genetic counseling to identify the sSMC origin.Case presentationA 27-year-old woman was referred for genetic counseling and prenatal diagnosis at 26 weeks of gestation due to her elder daughter, diagnosed as Angelman syndrome (AS) with an interstitial deletion in one of the chromosomes 15, carrying a small supernumerary marker chromosome (sSMC). The G-banding results of the woman and her current fetus both were 47,XX,+mar. In this paper, fluorescence in situ hybridization (FISH) results showed that there was no deletion of chromosome 15 in the woman and fetus. We demonstrated that the proband’s sSMC was maternally inherited and was an inv dup(22)(q11.1) , and that the deletion in 15q11.2-q13.1 was de novo.ConclusionsTaking into account above results and normal phenotypes of the proband’s mother, in this case we suggest that the sSMC don’t increase the recurrence risk of AS. After prenatal diagnosis, the woman chose to continue the pregnancy, and finally gave birth to a normal female infant.

Background: The prevalence of preterm birth has been raising, and there is a paucity of nationwide data on the perinatal characteristics and neonatal outcomes of twin deliveries of very preterm infants (VPIs) in China. This study compared the perinatal characteristics and outcomes of singletons and twins admitted to neonatal intensive care units (NICUs) in China. Methods: The study population comprised all infants born before 32 weeks in Chinese Neonatal Network (CHNN) between January 2019 and December 2019. Results: During the study period, there were 6634 (71.2%) singletons and 2680 (28.8%) twins, with mean birth weight of 1333.70g and 1294.63g, respectively. Twins were significantly more likely to be delivered by cesarean section (p<0.01), to have antenatal steroid usage (p=0.048), to have received assisted reproductive technology (ART) (p<0.01), and have higher prevalence of maternal diabetes (p<0.01) and more were inborn (p<0.01) compared with singletons. In addition, twins had a lower prevalence of small for gestational age, maternal hypertension, primigravida compared to singletons (all p<0.01). After adjusting for the potential confounders, twins had higher mortality (adjusted odds ratio [AOR] 1.28, 95% confidence interval [CI] 1.10-1.49), short term composite outcome (AOR 1.28, 95% CI 1.09-1.50), respiratory distress syndrome (RDS) (AOR 1.30, 95% CI 1.12-1.50), bronchopulmonary dysplasia (BPD) (AOR 1.10, 95% CI 1.01-1.21), surfactant usage (AOR 1.22, 95% CI 1.05-1.41) and prolonged hospital stay (adjusted mean ratio 1.03, 95% CI 1.00-1.06), compared to the singletons. Conclusion: Our work suggest that twins have a greater risk of mortality, higher incidence of RDS and BPD, more surfactant usage, and longer NICU stay compared with singletons among VPIs in China.