22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed to characterize growth patterns, hypoparathyroidism, and thyroid dysfunction of individuals with 22q11.2DS. Anthropometric and laboratory measurements were obtained from the charts of 48 individuals (males=28, 8.0±6.8 visits/participant) followed at a national 22q11.2DS clinic between 2009 and 2016. Age at diagnosis was 4.3±4.9 years and age at last evaluation 11.2±7.2 years. Median height-SDS was negative at all ages. Height-SDS at last visit was correlated to the midparental height-SDS (r=0.52 P=0.002). Yet, participants did not reach their target height, with a difference of 1.06±1.07 SD (P <0.0001). Height-SDS at last visit of participants with a heart defect was lower compared to participants with a normal heart (-1.5±1.4 vs. -0.6±0.8, P=0.036), with lower height-SDS in the subgroup of participants with severe heart defects (-2.1±1.6, P=0.009). Mean IGF1-SDS was low (-0.99±1.68) but was not correlated with height-SDS. Thirteen patients (27%) had hypoparathyroidism: 10 presented during infancy and 3 during adolescence. Five patients (10.4%, female=4) had thyroid abnormalities. In conclusions, individuals with 22q11.2 DS have a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low-normal range. Hypoparathyroidism is common and may present during the neonatal period as well as later in life. Thyroid abnormalities may present during childhood, adolescence, or adulthood.
Objective: Estimated fetal weight, large for gestational age (eLGA) ([?]90th percentile) may be associated with failed trial of labor after Cesarean (TOLAC), like fetal macrosomia. The aim of this study was to evaluate obstetrical outcome and safety of TOLAC, for women with eLGA. Design: A retrospective cohort study. Setting: a single large tertiary care center. Population or Sample: all women with singleton pregnancy, gestational age [?] 37weeks, admitted for TOLAC between 2012 and 2017. Methods: Women with eLGA were compared to women with EFW < 90th percentile. Main outcome measures: the rate of successful vaginal delivery, adverse obstetrical outcomes. Results: 1949 women met inclusion criteria, including78 (4%) eLGA and 1871 (96%) controls. Study group were older (35 vs. 33 year; p=0.004), with higher Body Mass Index (30.9 vs. 27.5 kg/m2; p=0.001) and higher gravidity (4 vs. 3; p=0.001) compared to the controls. Median fetal weight was [3887g (IQR 3718-4073) vs. 3275g (IQR 2995-3545); p=0.001 in the study vs. controls respectively]. 55 (70.5%) women in the study group had successful vaginal delivery compared to 1506 (80.5%) women in the control (p= 0.03). The rate of obstetrical complications, including: scar dehiscence, uterine rupture, 3rd /4th degree perineal tear or shoulder dystocia were comparable. The rate of post-partum hemorrhage was increased in the study group compared to controls (7.7% vs.1.7%; p=0.001). Conclusion: TOLAC for eLGA fetuses can be considered as safe, however, lower successful VBAC rates and increased PPH rate may be expected.
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