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Background Congenital heart defects (CHDs) are the most common birth defect around the world. Maternal prepregnancy obesity has been proposed as a risk factor of CHDs, but the relationship of CHD risk with over- and underweight is controversial, especially because body mass index (BMI) distribution differs between Asia and the West. The study aimed to examine the potential associations of maternal over- and underweight on risk of offspring CHDs. Methods An ambispective observational study involving 1206 fetuses with CHDs and 1112 fetuses without defects at seven hospitals in China was conducted. Standardized questionnaires were used to collect information on maternal prepregnancy weight and height, social demographic characteristics, living and occupational environments, and lifestyle behaviors. Univariate, multivariate and multilevel logistic regression as well as unrestricted cubic spline analysis were used to examine potential associations of prepregnancy BMI and offspring CHDs. Results Prepregnancy maternal underweight (BMI Conclusions Our findings suggest that underweight or low average BMI may be associated with higher risk of CHDs in offspring. Health professionals may wish to advise women planning to be pregnant to maintain or even gain weight to ensure adequate, balanced nutrition and thereby reduce the risk of CHDs in their offspring.

Objective To examine whether maternal hair or cord blood selenium levels are associated with infant congenital heart defects (CHDs). Method A hospital-based case-control study was performed with samples collected from 2010 to 2014. Selenium levels in maternal hair and fetal cord serum were measured using Inductively Coupled Plasma-Mass Spectrometry (ICP-MS). Data from medical records of infants with CHDs were collected. Logistic regression analysis was employed to examine the independent association between maternal selenium exposure and fetal CHD. Results In total, 888 pregnant women were included in this study. Median (interquartile range) selenium levels in of maternal hair was similar in the control and CHD group. A significant association was detected between increased maternal hair selenium concentration and CHDs in offspring (adjusted odds ratio [aOR] 3.57, 95 %CI, 1.90-6.70). The association was present in all CHD groups, including septal defects, conotruncal defects, left ventricular outflow tract obstruction, right ventricular outflow tract obstruction, and anomalous pulmonary venous return. Conclusion High maternal selenium level is significantly associated with the occurrence of fetal CHD.

To describe the prenatal ultrasonographic characteristics and perinatal outcomes of congenital cataract. We analyzed congenital cataract diagnosed prenatally at four referral centers between August 2004 and February 2019. The diagnosis was confirmed by postnatal ophthalmologic evaluation of liveborn infants or autopsy for terminated cases. Maternal demographics, genetic testing results, prenatal ultrasound images, and perinatal outcomes were abstracted. Total of 41 cases of congenital cataract diagnosed prenatally among 788 751 women undergoing anatomic survey. Based on the sonographic characteristics, 16/41 (39.0 %) had a dense echogenic structure, 15/41 (36.6 %) had a hyperechogenic spot and 10/41 (24.4 %) had the "double ring" sign. 17/41 (41.5 %) were isolated, and 24/41 (58.5 %) had associated intraocular and extraocular findings. Microphthalmia, cardiac abnormalities, and central nervous system abnormalities were the most common associated abnormalities. Regarding potential etiology, 6 cases had a known family history of congenital cataract, 4 cases had confirmed congenital rubella infection, and 2 cases had aneuploidy. 31/41 (75.6 %) elected termination and 10/41 (24.4 %) elected to continue their pregnancy. Among the 10 cases, one case died, one case was lost to follow-up, and the remaining 8 cases were referred for ophthalmologist follow-up and postnatal surgery. Once fetal cataracts are detected, a detailed fetal anatomy survey to rule out associated abnormalities and a workup to identify the potential etiology are recommended. Prenatal diagnosis of congenital cataracts provides vital information for counseling and subsequent management.ZIEL: Beschreibung der Merkmale im pränatalen Ultraschall und des perinatalen Outcomes bei angeborenem Katarakt. Wir analysierten Fälle mit angeborenem Katarakt, die zwischen August 2004 und Februar 2019 an 4 Zentren überwiesen und pränatal diagnostiziert wurden. Die Diagnose wurde postnatal durch eine augenärztliche Untersuchung des Lebendgeborenen oder im Falle einer Interruptio durch Autopsie bestätigt. Die demografischen Daten der Mutter, genetische Untersuchungsergebnisse, pränatale Ultraschallbilder und das perinatale Outcome wurden analysiert. Insgesamt 41 Fälle von angeborenem Katarakt, die bei 788 751 Frauen im Rahmen einer anatomischen Untersuchung des Fötus diagnostiziert wurden. Basierend auf den sonografischen Merkmalen zeigten 16/41 (39,0 %) eine dichte echogene Struktur, 15/41 (36,6 %) einen hyperechogenen Fleck und 10/41 (24,4 %) das „Doppelring“ -Zeichen. Isolierte Merkmale fanden sich bei 17/41 (41,5 %) und assoziierte intraokulare und extraokulare Befunde bei 24/41 (58,5 %). Mikrophthalmie, Anomalien des Herzens und des Zentralnervensystems waren die häufigsten assoziierten Befunde. In Bezug auf eine mögliche Ätiologie lag in 6 Fällen bereits ein familiärer angeborener Katarakt vor, in 4 Fällen wurde eine kongenitale Rötelninfektion bestätigt und 2 Fälle hatten Aneuploidie. Für einen Schwangerschaftsabbruch entschieden sich 31/41 (75,6 %) und für eine Fortsetzung der Schwangerschaft 10/41 (24,4 %). Von diesen 10 Fällen verstarb ein Kind, ein Fall ging für die Nachsorge verloren und bei den übrigen 8 Kindern wurde die augenärztliche Nachsorge und eine postnatale Operation eingeleitet. Bei Feststellung eines fetalen Katarakts wird empfohlen, die fetale Anatomie detailliert zu untersuchen, um assoziierte Anomalien auszuschließen, sowie die mögliche Ätiologie abzuklären. Die pränatale Diagnose des angeborenen Katarakts liefert wichtige Informationen für die Beratung und das weitere Management.

Background Many studies have investigated heavy metal exposure could increase the occurrence of congenital heart defects (CHDs). However, there are limited data regarding the relationship between cobalt exposure and CHD occurrence in offspring. The aim of this study was to analyze the association between cobalt exposure in mothers and the risk of CHDs in offspring. Materials and methods In order to explore the association between cobalt exposure and occurrence of congenital heart defect (CHD), a case-control study with 490 controls and 399 cases with CHDs in China were developed. The concentrations of cobalt in hair of pregnant woman and fetal placental tissue were measured and processed by a logistic regression analysis to explore the relationship between cobalt exposure and risk of CHDs. Results The median concentration of hair cobalt in the control and case group was 0.023 ng/mg and 0.033 ng/mg (aOR, 1.837; 95% CI, 1.468–2.299; P < 0.001), respectively. And the median (5–95% range) fetal placental cobalt concentrations were 19.350 ng/g and 42.500 ng/g (aOR, 2.924; 95% CI, 2.211–3.868; P < 0.001) in the control and case groups, respectively. Significant differences in the middle level of cobalt in hair were found in the different CHD subtypes, including septal defects, conotruncal defects, right ventricular outflow tract obstruction, and left ventricular outflow tract obstruction (P < 0.001). Dramatically, different cobalt concentrations in fetal placental tissue were found in all subtypes of cases with CHDs (P < 0.01). Conclusions The finding suggested that the occurrence of CHDs may be associated with cobalt exposure.

Objectives This study aimed to analyze the association between fetal lead or aluminum exposure and congenital heart disease (CHD) occurrence as well as to explore the mechanism of oxidative stress in heart development. Methods Lead and aluminum concentrations were measured by ICP-MS in umbilical serum. The oxidative stress statuses were analyzed by measuring SOD, GPx and MDA with colorimetric assays. Results Higher concentrations of Al were seen in the CHD groups compared to the controls. The risk of CHD occurrence increased markedly in the highly elevated Al group (aOR 2.08, 95%CI 1.11–3.88). With increasing Al and Pb levels, the activity of SOD decreased, and the level of MDA increased. Significantly decreased activity of SOD and GPx were found in the CHD groups (P Conclusion Fetal aluminum exposure may contribute to CHD occurrence. Oxidative stress was related to the concentration of Pb and Al, which may be involved in the occurrence of CHD.