ABSTRACT Background Single neural tube defects (NTDs) are among the most serious and common birth defects of the nervous system with a prevalence of ~5 per 10,000 births in countries with dietary folic acid fortification. The occurrence in the same individual of multiple NTDs—two or more such anomalies in the cerebrospinal axis separated by segments of normally closed neural tube—occurs much less frequently. Methods We studied phenotypic and epidemiological characteristics in 21 MNTD cases from three centers, and in 128 similar cases from the literature. Results MNTDs differ from single NTDs in many respects. Anencephaly, open meningomyeloceles and large encephaloceles are rarer, while small cephaloceles and various forms of spinal dysraphism (e.g., split cord malformations, lipomas) are often seen. Common patterns are a cranial defect with a spinal anomaly and pairs of spinal defects. While some cases were identified during pregnancy or in the neonatal period, many others only came to attention a week or more after birth. There were fewer associated anomalies and surviving children tended to have less motor and cognitive dysfunction. Conclusions Although defects of primary neurulation can be seen in MTNDs, failures in pre‐neurulation and post‐neurulation processes are frequent contributors to the specific locations and types of multisite neural tube defects observed. Abnormal secondary neurulation appears rare. To date, there are few clues as to what genetic and/or environmental risk factors might lead to these unusual patterns of neural tube dysmorphogenesis.
ABSTRACT Background To evaluate pregnancy outcomes following maternal pramipexole exposure using data from the Izmir Kâtip Celebi University Teratology Information, Training and Research Center (TERAFAR). Methods Pregnant women exposed to pramipexole and referred to the TERAFAR between 2011 and 2025 were evaluated. Maternal demographic data, medical history, and exposure details were recorded at the initial visit; pregnancy outcomes and neonatal data were collected through postpartum telephone interviews. The primary outcome was the rate of major congenital malformations, while secondary outcomes included miscarriage, stillbirth, preterm birth, and low birth weight. Results A total of 11 pregnancies were evaluated. Median maternal age was 36 years, and restless legs syndrome was the primary indication in 10 of the 11 pregnancies. The median daily dose was 0.25 mg. Of the 11 pregnancies, 10 resulted in live births and one ended in miscarriage. No major congenital malformations were observed. A minor congenital anomaly (infantile hemangioma) was detected in only one premature infant. Conclusions In this case series, maternal exposure to pramipexole was not associated with a consistent pattern of congenital anomalies suggestive of a teratogenic signal. Given the clinical context, the minor anomaly observed (infantile hemangioma) is more likely attributable to prematurity and maternal factors than to pramipexole exposure. Given the small sample size, findings should be interpreted with caution but may inform individualized counseling of pregnant women with inadvertent pramipexole exposure. Further studies are warranted.
ABSTRACT Background Congenital underdevelopment of one or both ears (microtia/anotia) is the most common component of craniofacial microsomia (CFM). Although the right side is more commonly affected, social determinants of laterality remain understudied. Methods Using a multicenter North American case–control study of CFM (1996–2002), we evaluated associations between maternal periconceptional cigarette smoking, pregnancy intention, timing of pregnancy recognition, education, and prepregnancy body mass index with microtia/anotia, overall and by laterality. Cases were 137 children < 36 months with microtia/anotia identified at craniofacial centers; up to 4 controls per case ( n = 678) were matched on residence, age at ascertainment, and calendar time. Exposures were ascertained from maternal interviews. We performed conditional logistic regression adjusted for maternal age and education to estimate odds ratios (ORs) and 95% CIs. Results Among 137 cases, 51 (37%) were left‐sided, 61 (45%) right‐sided, 11 (8%) bilateral, and 14 (10%) unknown. Point estimates for smoking, later pregnancy recognition, lower education, and obesity were elevated overall, though confidence intervals were wide. Left‐sided ORs were smoking 2.16 (95% CI: 0.88–5.30); unplanned pregnancy 1.36 (95% CI: 0.67–2.78); pregnancy recognition > 9 weeks after last menstrual period (vs. < 5 weeks) 3.64 (95% CI: 0.95–14.03); < 12 years of education (vs. ≥ 16 years) 5.24 (95% CI: 1.47–18.68); and obesity (vs. normal weight) 1.65 (95% CI: 0.58–4.63). Corresponding right‐sided ORs were 1.28, 1.00, 1.63, 2.11, and 1.24. Conclusions Several maternal factors were modestly associated with microtia/anotia, with consistently larger estimates for left‐ than right‐sided anomalies. These findings provide limited evidence that the etiology of microtia/anotia may differ by laterality and warrant confirmation in larger studies.
ABSTRACT Background Dimenhydrinate (DH) is the first generation medicine used as antiemetic. It is neurotoxic in rat and chick embryos. Both green cabbage (GCbg) and red cabbage (RCbg) have many health benefits and red cabbage is also full of anthocyanins and may minimize oxidative stress in chick embryo. Material and Method The study was designed to check the teratogenic impacts of dimenhydrinate and curative abilities of green and red cabbage extracts against dimenhydrinate in chick embryo through morphometry, histopathology and micrometry. Fertilized eggs were divided into six groups ( n = 50): (1) control (Cnt), injected with 0.02 mL distilled water (2) GCbg, injected with 0.02 mL green cabbage extract (3) RCbg, injected with 0.02 mL red cabbage extract (4) DH, injected with 0.02 mL dimenhydrinate (5) DH + GCbg, injected with 0.01 mL dimenhydrinate and 0.01 mL green cabbage extract (6) DH + RCbg, injected with 0.01 mL dimenhydrinate and 0.01 mL red cabbage extract. All groups were administered on the zero day of incubation, and recovery was made on the 14th day. Results The embryos of DH exposed group indicated significant decrease in embryonic body weight (7.71 ± 2.82 g) and liver weight (0.03 ± 0.02 g) as compared to control group (15.58 ± 0.75 g; 0.35 ± 0.01 g). The prominent morphometric malformations were amelia, phocomelia, microcephaly and microtia. The hepato‐histopathologic signs include decreased hepatocytes, irregular hepatocyte cords and sinusoidal space and de‐shaping central veins. Concusion This study indicated that dimenhydrinate is teratogenic in chick embryo and both cabbages have ability to decrease birth defects and red cabbage indicated more positive potential compared to green cabbage.
Background Neural tube defects (NTDs) remain clinically important congenital conditions, but contemporary Puerto Rico-specific epidemiological data in the current folic acid fortification era are limited.Objectives To describe the epidemiology of NTDs in Puerto Rico from 2015 through 2024, characterize pregnancy outcomes and lesion patterns, evaluate temporal trends, and compare contemporary metrics with prior Puerto Rico reports using directly comparable denominators.Methods Retrospective population-based cross-sectional surveillance study of NTD-affected pregnancies in Puerto Rico, 2015-2024. Case data were obtained from the Puerto Rico NTD surveillance dataset; annual live-birth denominators were obtained from the Puerto Rico Department of Health. Surveillance-based rates per 10,000 live births were calculated with exact Poisson 95% confidence intervals. Temporal trends were evaluated with negative binomial regression. The study was conducted under local institutional and public health data policies as a secondary analysis of de-identified data; institutional review board review was not required.Results Among 194 NTD-affected pregnancies and 220,138 live births, the overall surveillance-based rate was 8.8 per 10,000 live births (95% CI 7.6, 10.1). No significant temporal trend was identified (rate ratio 1.01, 95% CI 0.81, 1.26). The live-born NTD rate was 3.7 per 10,000 live births (95% CI 3.0, 4.6). Spina bifida (88; 45.4%) and anencephaly (79; 40.7%) predominated. Termination occurred in 54 of 79 (68.4%) anencephaly pregnancies compared with 23 of 88 (26.1%) spina bifida pregnancies. Lumbosacral lesions were the most common spina bifida level (39; 44.3%).Conclusions The contemporary live-born NTD rate in Puerto Rico is lower than the pre-fortification era estimate, reflecting the influence of prenatal diagnosis and termination. The overall surveillance-based rate remains similar to the earlier post-fortification estimate, with no significant recent decline, supporting the need for strengthened territory-specific surveillance and earlier, coordinated folate-centred prevention strategies.
