Congenital Anomalies最新文献

This pharmacovigilance study investigated the relationship between antiepileptic drugs and congenital strabismus, utilizing the FDA Adverse Event Report System database between 2014 and 2023. Out of 28 347 889 reports of adverse events in 10 937 764 cases, we identified 1104 reports of strabismus and 67 of congenital strabismus. Valproic acid was the most frequently implicated primary suspect drug (95 and 14 cases, respectively). Ninety-five reports involved transplacental valproic acid exposure, yielding an information component (IC) of 7.06 (IC-2 × standard deviation: 5.50). A multivariate analysis showed that transplacental exposure to valproic acid correlated with strabismus (adjusted odds ratio: 8.47, 95% CI: 6.74–10.65). We revealed a robust safety signal linking valproic acid to congenital strabismus.

Given the paucity of safety data on fluoroquinolone antibiotics in pregnancy, a prospective observational cohort study was conducted in pregnant women who sought help and advice on drug use at two teratology information institutes in Japan. The primary endpoint of the study was the incidence of major congenital anomalies. The study population included pregnant women exposed to (i) fluoroquinolones (fluoroquinolone group), (ii) β-lactams (infectious control group), or (iii) other agents considered to be nonteratogenic in humans (nonteratogenic control group) during the first trimester. The frequency of major congenital anomalies was compared across groups using a logistic regression model that adjusted for maternal age, smoking status, drinking status, facility consulted, and time of consultation. The fluoroquinolone group consisted of 411 women who had 383 children born alive. The infectious control and nonteratogenic control groups consisted of 1416 and 1482 women who had 1322 and 1401 children born alive, respectively. The incidence of major congenital anomalies was 1.5%, 2.0%, and 1.6% in the fluoroquinolone group, infectious control, and nonteratogenic control groups, respectively. Logistic regression showed that fluoroquinolone exposure is not a significant risk factor for major congenital anomalies. In conclusion, first-trimester exposure to fluoroquinolone antibiotics was not associated with increased maternal or fetal risks.

There is an increase in the worldwide prevalence of congenital abdominal wall defects (CAWD), with gastroschisis (GS) and omphalocele (OC) being the most common. It is widely accepted that folic acid supplementation (FAS) in the maternal diet decreases the incidence of anomalies such as neural tube defects, but there is controversy regarding the possible beneficial role for other congenital malformations. Several epidemiological studies raise controversy regarding a possible relationship between vitamin supplementation with the occurrence of abdominal wall malformations. The aim of the present study is to obtain an updated review of the global frequency of CAWD in neonates and the relationship with FAS in the mothers. For this we have carried out a systematic search of epidemiological studies in different article databases between 2011 and 2022. The analysis of 25 studies conducted in different countries where cases of OC and/or GS are registered directly or together with other congenital defects shows that 60% inquire into the relationship of FAS with the incidence of CAWD. Half of them proposes a beneficial effect of FAS and the other half find no association, concluding that there is no unanimous evidence that FAS in the maternal diet decreases the incidence of CAWD. However, it seems that an influential factor to take into account is the nutritional habits of the mothers.

Teramoto M, Katsube M, Utsunomiya N, et al. An easy-to-use semi-automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft. Congenit Anom. 2023;63(6):182-189. doi:10.1111/cga.12534

In Table 1 and Figure 2, the citations of “Zygomaticofacial foramen” were incorrect.¹ These should be corrected as “Infraorbital foramen.”

In addition, the email address of corresponding author “[email protected]” was incorrect. This should be corrected as “[email protected].”

We appreciate giving us the opportunity to correct these errors.

We experienced an atypical case of radial longitudinal deficiency that did not fit into any classifications, including Blauth. The patient had a bilateral hypoplastic thumb, in which the index and middle fingers were missing in the right hand. We performed surgeries in four stages: centralization of the right hand, opponensplasty of the right thumb, opponensplasty of the left thumb, and distraction lengthening of the right ulnar. Twenty-five years after the initial treatment, the patient was satisfied with the treatment and had no significant difficulty with activities of daily living.

A 27-year-old multiparous woman conceived her fetus naturally. Early second-trimester ultrasound showed short extremities with systemic subcutaneous edema. The pregnancy was artificially terminated at 19 weeks of gestation because of the abnormalities based on the parents' wishes. The parents desired whole-exome sequencing to detect a causative gene using the umbilical cord and the parents' saliva. Compound heterozygous variants (NC_000003.11(NM_052989.3):c.230 T > G/NC_000003.11(NM_052985.4):c.1178A > T) were identified. We described a fetus with a novel compound heterozygous variant in IFT122. The phenotype of this case was severer than of other types of cranioectodermal dysplasia.

This pictorial essay focuses on ultrasound (US) and magnetic resonance imaging (MRI) features of fetal urogenital anomalies. Fetal urogenital malformations account for 30%–50% of all anomalies discovered during pregnancy or at birth. They are usually detected by fetal ultrasound exams. However, when ultrasound data on their characteristics is insufficient, MRI is the best option for detecting other associated anomalies. The prognosis highly depends on their type and whether they are associated with other fetal abnormalities.