Objective: This study aims to determine the impact of maternal gestational diabetes mellitus (GDM) on peripubertal growth of offspring. Design: Population-based prospective cohort study. Setting: University Hospital. Population: 478 mother-offspring pairs from cohort Taiwan Birth Panel Study II (TBPS II). Methods: Maternal GDM status was tested at gestational weeks 24-28 using two-step or one-step oral glucose tolerance test. Offspring received follow-up questionnaire, physical examination, and bone age study at the age of 6 to 8. Associations between maternal GDM and offspring outcomes were analyzed using multiple linear or logistic regression models to adjust for maternal pre-gravid BMI, household income, maternal age at delivery, and maternal menarche age. Main Outcome Measures: Offspring bone age, serum sex hormone levels, Tanner stage for breast and testes, and penile length. Results: There were 43 (9.0%) children born from mothers with GDM, and 435 (91.0%) in the control group. In girls, there was a more advanced bone age in the GDM group (n=19) than the control group (n=203) after adjusting for potential confounding factors (0.48-year, 95% CI=0.002-0.97-year). For boys, the GDM group (n=24) showed no advancement in the bone age compared with the control group (n=232) (-0.13-year, 95% CI= -0.66-0.40). The serum sex hormone levels and secondary sexual characteristics of children in the GDM group were comparable to those in the control group. Conclusions: Girls born from GDM mothers had more advanced bone age at peripubertal stage than the control group. This phenomenon was not observed in boys, nor were other secondary sexual characteristics and serum sex hormone levels.

Objective: The prenatal genetic counseling of fetus diagnosed with the 15q11.2 copy number variant (CNV) involving the BP1-BP2 region has been difficult due to limited information and controversial opinion on prognosis. Design: Case series. Setting: This study uses data from National Taiwan University Hospital. Sample: Data of 36 pregnant women who underwent prenatal microarray analysis from 2012 to 2017 and were assessed at National Taiwan University Hospital. Methods: Data were collected by reviewing patients’ medical record. Comparison of patient characteristics, prenatal ultrasound findings and postnatal outcomes between different cases involving the 15q11.2 BP1-BP2 region were presented. Main outcome measured: Postnatal prognosis. Results: Out of the 36 patients diagnosed with CNVs involving the BP1-BP2 region, 5 were diagnosed with microduplication and 31 with microdeletion. Abnormal ultrasound findings were recorded in 12 cases prenatally. De novo microduplications were observed in 25% of the cases and microdeletions were found in 14%. Amongst the cases, 10 pregnant women received termination of pregnancy and 26 gave birth to healthy individuals (27 babies in total). Conclusion: The prognoses of 15q11.2 CNVs were controversial and recent studies have revealed its connection with developmental delay and autism. In our study, no obvious developmental delay or neurological disorders were detected postnatally in the 1 case of 15q11.2 microduplication and 25 cases of microdeletion.