Background Chromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. The severely malformed phenotype is known to be associated with the deletion of a critical region in 13q32. However, esophageal atresia is a rare symptom and the relevant region is unknown. Thus, determining the association between accurate breakpoints and new clinical features is essential. Case presentation A 28-year-old Japanese primigravid woman was referred for fetal growth restriction, absence of a gastric bubble, cerebellar hypoplasia, overlapping fingers, and polyhydramnios at 31 weeks gestation. At 38 + 0 weeks, she delivered a 1774 g female infant. The infant presented with isolated esophageal atresia (Gross type A), Dandy–Walker malformation, right microphthalmia, left coloboma, overlapping fingers, pleurocentrum in the thoracic vertebrae, reduced anogenital distance, and hearing loss. Her karyotype was diagnosed as 46,XX,del(13)(q32.1–qter) by amniocentesis, but array comparative genomic hybridization after birth revealed the deletion of 13q31.3–qter. At 48 days after birth, the infant underwent surgery for esophageal atresia and was later discharged from the hospital at 7 months of age. Conclusion This case report and the literature reviews supports the previous findings on the pathological roles of haploinsufficiency of the ZIC2/ZIC5 in Dandy–Walker malformation and the EFBN2 haploinsufficiency in eye malformation and hearing loss. Furthermore, the possible involvement of IRS2, COLA1, and COLA2 in eye malformation were identified. This is the first case of 13q deletion syndrome with esophageal atresia (Gross A), but it may be a symptom of VATER/VACTER association (vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects), as in the previous cases. These symptoms might also be associated with EFBN2 haploinsufficiency, although further research is required.
Objective: This study aimed to evaluate the differences in maternal renal function between singleton and twin pregnancies in the second half of pregnancy. Design: Retrospective study Setting: Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital from January 2019 to June 2021. Population: This study included 1711 pregnant women with 1547 singleton pregnancies and 164 twin pregnancies. Methods: Patients underwent renal function tests (serum blood urea nitrogen, creatinine, and estimated glomerular filtration rate [eGFR]) at least one month prior to delivery. Main Outcome Measure: Maternal renal dysfunction, defined as serum creatinine of above 0.8 mg/dL. Results: Serum creatinine level was significantly higher and eGFR was significantly lower in twin pregnancies than that in singleton pregnancies (p < 0.001). In addition, the rate of renal dysfunction was significantly higher in twin than that in singleton pregnancies (7.9% vs. 2.6%; p < 0.001). Multivariate analysis revealed that twin pregnancy (odds ratio [OR] 3.38), nulliparity (OR 2.31), and preeclampsia (OR 3.64) were significant risk factors for maternal renal dysfunction. Maternal renal dysfunction was observed in 13 twin pregnancies, all of which recovered to within normal limits during the postpartum period. Conclusions: Twin pregnancy is a significant risk factor for maternal renal dysfunction. Careful attention should be paid to maternal renal dysfunction in the management of twin pregnancies. Funding: Japanese Red Cross, Nagoya Daiichi Hospital Research Grant (grant number NFRCH22-0011). Keywords: chorionicity, renal function, serum creatinine concentration, singleton pregnancy, twin pregnancy
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