Mexico is recognized as a country with a high prevalence of gastroschisis, although the cause of this remains unclear. We define the prevalence and potential risk factors for gastroschisis in a public hospital from west México. A case-control study was conducted among 270 newborns, including 90 patients with nonsyndromic gastroschisis (cases) and 180 infants without birth defects (controls), born all during the period 2009 to 2013 at the Hospital Civil de Guadalajara “Dr. Juan I. Menchaca” (Guadalajara, Mexico), from a total of 51 145 live births. Potential maternal risk factors for gastroschisis were compared using multivariate logistic regression analysis to evaluate the deviance explained by different variables of interest. The overall prevalence of gastroschisis in live births was 17.6 per 10 000 births (95% confidence interval [CI] 14.0–21.2), whereas in offspring of women ≤19 years old was 29.9 per 10 000 births (95% CI 21.9–38.0). Mothers ≤19 years (adjusted odds ratio [aOR] 2.8: 95% CI 1.5–5.1), anemia during pregnancy (aOR 10.7; 95% CI 2.0–56.9), first-trimester exposure to hormonal contraceptives (aOR 3.7; 95% CI 1.0–13.0), and first-trimester alcohol consumption (aOR 3.4; 95% CI 1.6–7.3), were associated with gastroschisis. Contrarily, adjusted OR for pre-pregnancy body mass index ≥25 kg/m2 has protective odds (aOR 0.2; 95% CI 0.1–0.5). Our results suggest an increased risk for gastroschisis among mothers under the age of 20, with anemia during pregnancy, and those who used hormonal contraceptives or consumed alcohol during early pregnancy, whereas, pre-pregnancy overweight has a protective OR, and they are discussed as clues in its pathogenesis.
Abstract Observed/expected lung area to head circumference ratio (o/e LHR) and lung to thorax transverse area ratio (LTR) are the sonographic indicators of postnatal outcome in fetuses with congenital diaphragmatic hernia (CDH), and they are not influenced by gestational age. We aimed to evaluate the relationship between these two parameters in the same subjects with fetal left-sided CDH. Fetuses with left-sided CDH managed between 2005 and 2012 were included. Data of LTR and o/e LHR values measured on the same day prior to 33 weeks' gestation in target fetuses were retrospectively collected. The correlation between the two parameters was estimated using the Spearman's rank-correlation coefficient, and linear regression analysis was used to assess the relationship between them. Data on 61 measurements from 36 CDH fetuses were analyzed to obtain a Spearman's rank-correlation coefficient of 0.74 with the following linear equation: LTR = 0.002 × (o/e LHR) + 0.005. The determination coefficient of this linear equation was sufficiently high at 0.712, and the prediction accuracy obtained with this regression formula was considered satisfactory. A good linear correlation between the LTR and the o/e LHR was obtained, suggesting that we can translate the predictive parameters for each other. This information is expected to be useful to improve our understanding of different investigations focusing on LTR or o/e LHR as a predictor of postnatal outcome in CDH.
Abstract Maternal age effect is well-known in the origin of numerical chromosomal aberrations and some isolated congenital abnormalities (CAs). The sex ratio (SR), i.e. number of males divided by the number of males and females together, of most CAs deviates from the SR of newborn population (0.51). The objective of this analysis was to evaluate the possible association of maternal age with the SR of isolated CAs in a population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980–1996. First, SR of 24 CA entities/groups was estimated in 21 494 patients with isolated CA. In the next step SR of different maternal age groups was compared to the mean SR of the given CA-groups. The SR of four CA-groups showed some deviation in certain maternal age groups. Cases with anencephaly had female excess in young mothers (<25 years). Cases with skull's CAs particularly craniosynostosis had a male excess in cases born to women over 30 years. Two other CA groups (cleft lip ± palate and valvar pulmonic stenosis within the group of right-sided obstructive defect of heart) had significant deviation in SR of certain maternal age groups from the mean SR, but these deviations were not harmonized with joining age groups and thus were considered as a chance effect due to multiple testing. In conclusion, our study did not suggest that in general SR of isolated CAs might be modified by certain maternal age groups with some exception such as anencephaly and craniosynostosis.
Abstract Subfertility and infertility are two major reproductive health problems in human and domestic animals. The contribution of the genotype to these conditions is poorly understood. To examine the genetic basis of male subfertility, we analyzed its relationship to sperm morphology in B10.MOL-TEN1 mice, which shows high-frequencies (about 50%) of morphologically abnormal sperm. Drastic histological changes were also found in the testis of the B10.MOL-TEN1. Segregation analysis showed that the abnormal sperm phenotype in B10.MOL-TEN1 was inherited and was predictably controlled by at least three loci. We also found that male fertility of this strain was normal. These findings indicate a complicated relationship between sperm morphology and male subfertility.
Abstract Normal growth of the lateral ventricles (LVs) was characterized three-dimensionally using magnetic resonance imaging (MRI) data from 16 human fetuses at 16–25 weeks of gestation. The LV was differentiated into four primary regions, the anterior horn, central parts, posterior horn, and inferior horn, at 16 weeks of gestation. The LV changed shape mainly by elongation and narrowing, which corresponded to the external and internal growth of the surrounding cerebrum. Six length parameters measured in the LV correlated with biparietal diameter by simple regression analysis (R2 range, 0.56–0.93), which may be valuable for establishing a standardized prenatal protocol to assess fetal well-being and development across intrauterine periods. No correlation was found between biparietal diameter and LV volume (R2 = 0.13).
Abstract The present study aimed to quantitatively characterize changes in the whole brain and arterial morphology in response to prenatal ionizing irradiation. Magnetic resonance imaging (MRI) and angiography (MRA) were used to evaluate brain and arterial abnormalities in 8-week-old male mice prenatally exposed to X-ray radiation at a dose of 0.5 or 1.0 Gy on embryonic day (E) 13. Irradiated mice demonstrated decreased brain volume, increased ventricular volume, and arterial malformation. Additionally, MRA signal intensity and arterial thickness in the anterior cerebral artery, middle cerebral artery, and basilar artery were lower in radiation-exposed mice than in control mice. MRI and MRA are useful tools for assessing brain and arterial abnormalities after prenatal exposure to radiation.
Abstract We report a case of a 13-year-old girl with a 5.4Mb de novo deletion, encompassing bands 2q23.3q24.1, identified by array-comparative genomic hybridization. She presented with minor facial and digital anomalies, mild developmental delay during infancy, and behavioral disorders. Few of the reported cases overlap this deletion and all only partially. We tried to compare the clinical features of the patient with the other cases, even though not all of them were molecularly characterized in detail. Considering the neuropsychiatric involvement of the proband and the clinical descriptions of other similar cases, we attempted to identify the genes more probably involved in neurological development and function in the deleted region, particularly GALNT13, KCNJ3 and NR4A2, which are expressed in neuronal cells.
Abstract Numerous malformations can affect the anterior part of the neck presenting at birth as a real diagnostic challenge for the pediatrician or the primary care physician who initially evaluate the baby. Congenital midline cervical cleft represents a rare defect of the midline neck, which is sometimes wrongly diagnosed as a thyroglossal duct anomaly, dermoid cyst, branchial cleft anomaly or “birthmark”. A prompt clinical diagnosis and surgical treatment during early infancy are essential to ensure both functional and aesthetic outcome. We report a case of a female neonate with a midline cervical cleft diagnosed immediately after birth. The main features of other congenital anomalies of the anterior neck are also discussed referring to their embryologic origin.
Abstract Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dimensional (3-D) helical computed tomography (CT). Prenatal sonographic findings seen in persons with Down syndrome, such as a thickened nuchal fold, cardiac defects, and echogenic bowel were not found in the patient. A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia. In a case with combination of achondroplasia and Down syndrome, it may be difficult to diagnose the co-occurrence prenatally without typical markers of Down syndrome.
Abstract Pentalogy of Cantrell (PoC) is a rare congenital midline defect. We present a case and its treatment of PoC with complete ectopia cordis and congenital heart disease. Postnatally the congenital heart defect was surgically corrected and the ectopic heart was covered by musculous mobilized flap. Due to cephalic orientation of the heart and limited intrathoracic space, replacement of the heart into the thoracic cavity was initially not performed. After 11 years of follow up our patient now is without relevant limitations solely wearing a thoracic shelter. This case elucidates the complexity of further management. The potential risk of disastrous hemodynamic compromise by intrathoracic shift is to compare with the limited safety of the ectopic heart.