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Objectives: (a) To determine the false-positive rate among newborns with prenatally suspected coarctation of the aorta (CoA) within the UCLA Health system, (b) to compare patient and maternal interventions and outcomes between false-positive cases and normal controls, and (c) to determine the timing of clinical presentation of CoA., Methods: We performed a single-center, retrospective case control study of all fetuses with suspected isolated CoA who underwent both fetal echocardiographic evaluation and subsequent delivery at UCLA between January 1, 2011, and December 31, 2018. Maternal and neonatal medical records were reviewed for demographic and clinical data, for cases of suspected CoA and for controls. A separate review of our institution's surgical database was performed to identify characteristics of all patients (neonatal and pediatric) with isolated CoA who underwent surgical repair during the same time period., Results: Among the 50 fetal cases of isolated suspected CoA who delivered at our institution, 47 patients (94%) were found to be normal (false positives). Compared with normal controls, patients with suspected CoA were more likely to have delayed maternal bonding, delayed feeding, admission to the intensive care unit, performance of neonatal echocardiograms, initiation of intravenous fluids and initiation of prostaglandin E1, and a longer length of hospital stay. Among the 38 patients undergoing CoA repair at our institution during the study period, four patients were prenatally diagnosed and no patient presented clinically with symptoms before 48 hours after delivery., Conclusion: Compared with normal controls, patients with prenatally suspected coarctation are more likely to have delayed maternal bonding, delayed feeding, more frequent neonatal echocardiograms, and longer length of hospital stay. Further refinement of neonatal management may improve postnatal care., (© 2020 John Wiley & Sons, Ltd.)

Objective: To evaluate fetal cardiac ventricular disproportion as a marker of cardiac anomalies., Methods: A retrospective case series included data from all patients who had a fetus diagnosed subjectively with ventricular disproportion by routine obstetric ultrasonography between January 1, 2007 and December 31, 2013 at a single tertiary center in the USA. Fetal and neonatal echocardiography, and neonatal outcome data were retrieved. Outcomes were described for all fetuses with subjective ventricular disproportion. Then, the objective right-to-left ventricular ratio (RLVR) was calculated as a continuous (after transformation to gestational age specific z-scores) or categorical value (>2SD for gestational week), based on previously published reference values. Subsequently, correlations between the objective RLVR and neonatal outcomes were evaluated., Results: Records from 60 fetuses diagnosed with ventricular disproportion at 16-38 weeks of gestation were included. These pregnancies resulted in 54 live deliveries; postnatally, 20 (37%) of these neonates were diagnosed with aortic coarctation and 39 (72%) were diagnosed with other cardiac anomalies, with or without aortic coarctation. No significant differences in objective prenatal diagnostic findings (RLVR) were demonstrated between neonates who were diagnosed postnatally with aortic coarctation or any cardiac anomaly and those not., Conclusion: Subjective ventricular disproportion, regardless of objective diagnosis, was associated with cardiac defects. The use of fetal and neonatal echocardiography following diagnosis of fetal ventricular disproportion appears justified., (Copyright © 2016 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.)

PHACE (posterior fossa, hemangioma, arterial lesions, cardiac, and eye) syndrome consists of infantile hemangiomas of the head and neck along with a spectrum of noncutaneous anomalies. Neurodevelopmental abnormalities have also been noted. Here we describe the association between PHACE syndrome and abnormalities in oropharyngeal development and coordination manifesting as dysphagia or speech and language delay. A retrospective chart review was conducted of 34 patients with PHACE syndrome. Data were collected from prior clinical notes and radiographic studies and the results of a comprehensive questionnaire that those who attended the July 2012 PHACE Syndrome Family Conference completed. Seventeen of 34 patients with PHACE syndrome and signs or symptoms of dysphagia or speech or language problems were included for analysis. Nine had dysphagia, seven had a history of cardiac surgery, four had a posterior fossa malformation, and seven had lip or oropharynx hemangiomas. Speech or language delay was noted in 16; posterior fossa abnormalities and lip or oropharynx hemangiomas were the most commonly seen associated finding in this group. There was considerable overlap between subset populations with dysphagia, speech delay, and language delay. A subset of individuals with PHACE syndrome experience dysphagia, speech delay, or language delay. This risk seems to be greater in certain subsets of patients, including those with posterior fossa malformations or lip or oropharynx hemangiomas and those with a history of cardiac surgery. Although this descriptive study was not comprehensive enough to examine prevalence, the high incidence of dysphagia and speech and language delay seen in our cohort warrants future prospective studies to further investigate the association., (© 2014 Wiley Periodicals, Inc.)

Background: Few epidemiologic studies have investigated the use of venlafaxine (Effexor XR capsules, Product Monograph, Wyeth, Montreal, Canada), an antidepressant used to treat major depression and anxiety disorders in adults, during pregnancy. Our objective was to determine whether use of venlafaxine during pregnancy is associated with specific birth defects., Methods: We used data from the National Birth Defects Prevention Study (NBDPS), a population-based, case-control study in the United States. Our analysis included mothers with pregnancies affected by one of 30 selected birth defects (cases) and babies without birth defects (controls) with estimated dates of delivery between 1997 and 2007. Exposure was any reported use of venlafaxine from 1 month preconception through the third month of pregnancy. We calculated adjusted odds ratios (aORs) and 95% Fisher Exact confidence intervals (CIs) for 24 birth defect groups for which at least 400 case mothers were interviewed. Our adjusted analyses controlled for maternal age and race/ethnicity., Results: Among the 27,045 NBDPS participants who met inclusion criteria, 0.17% (14/8002) of control mothers and 0.40% (77/19,043) of case mothers reported any use of venlafaxine from 1 month preconception through the third month of pregnancy. Statistically significant associations were found for anencephaly, atrial septal defect (ASD) secundum, or ASD not otherwise specified, coarctation of the aorta, cleft palate, and gastroschisis., Conclusions: Our data suggest associations between periconceptional use of venlafaxine and some birth defects. However, sample sizes were small, CIs were wide, and additional studies are needed to confirm these results., (Copyright © 2012 Wiley Periodicals, Inc.)

Objective: The purpose of this research was (1) to validate that ventricular septal defect (VSD), tetralogy of Fallot (TOF), and coarctation of the aorta (COA) can be studied in the UK General practice research database (GPRD) and (2) to understand which of the available GPRD components (computerized medical records, questionnaires, and maternal/infant free text) provide maximal information about these heart defects., Methods: Using a practitioner questionnaire, the positive predictive value (PPV) of the computerized medical record for VSD, TOF, and COA were determined. Both infant and maternal free text was examined. Concordance between the infant free text information and questionnaires was calculated. The proportion of infant information captured in the maternal free text was determined., Results: A 93% response rate was achieved. Based on questionnaire responses, an overall PPV of 93.5% was achieved (VSD = 95%, TOF = 90%, COA = 100%). Approximately half of the records contained infant free text information including information on the type and size of VSD, echocardiogram findings, and surgery. Concordance between the infant's free text and questionnaire information occurred in most of the cases (92-100%). The proportion of infant information in the maternal free text was low (4-19%)., Conclusion: The GPRD computerized medical records are sufficient to assess VSD, TOF, and COA. This study confirms that maternal free text provides a low yield of limited information pertaining to the infants' defect, while the infant free text may provide an additional information usually obtainable from practitioner questionnaires. The information provided by an infant free text may limit the need for practitioner questionnaire validation.

Objective: To evaluate the clinical implication of isolated right dominant heart (RDH) in fetal echocardiography., Study Design: We reviewed the medical records of pregnant women diagnosed with fetal RDH at Asan Medical Center from December 1999 to December 2005. The criteria of RDH were the ratio of right-to-left atrial and ventricular width and the ratio of the diameter of pulmonary artery-to-aorta were greater than 1.5. Fetuses with congenital heart disease, including coarctation of the aorta (CoA), noncardiac anomalies or chromosomal abnormalities were excluded., Results: RDH was identified in 44 fetuses. Twenty-nine (66%) were confirmed to have normal heart and 15 (34%) had cardiac anomalies by postnatal echocardiogrphy; 11 CoA, 1 interruption of aortic arch, 1 patent ductus arteriosus, and 2 ventricular septal defect. Mean gestational age at presentation with RDH was later in normal fetuses as compared to fetuses with CoA (p < 0.005). Only 26% (4/15) of fetuses presenting with RDH during the second-trimester were found to have normal heart postnatally, compared with 86% (25/29) of those diagnosed in the third-trimester., Conclusion: RDH in the fetus is a risk factor for postnatal CoA particularly when diagnosed in the second-trimester, and should be an indication for neonatal echocardiography., (Copyright (c) 2007 John Wiley & Sons, Ltd.)

Background: The left ventricular outflow tract (LVOT) malformations aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS) contribute significantly to infant mortality due to birth defects. Previous epidemiology data showed rate differences between male and female and white and black ethnic groups. The Texas Birth Defects Registry, an active surveillance program, enables study in a large, diverse population including Hispanics., Methods: Records of children up to 1 year old with AVS, CoA, and HLHS born in Texas from 1999 to 2001, were collected from the registry. Those including additional heart defects or a chromosomal anomaly were excluded. Multivariate analysis included: infant sex; United States-Mexico border county residence; and maternal age, race/ethnicity, birthplace, and education., Results: There were 910 cases among 1.08 million live births, of which 499 met inclusion criteria. Multivariate modeling of all LVOT malformations combined demonstrated lower prevalence rate ratios (PRRs) for black males (0.26) and Hispanic males (0.70). Similar results were found for CoA but not AVS or HLHS. Higher PRRs were noted for increased maternal age for LVOT (1.3 for 24-34 years; 1.7 for >34 years), AVS, and HLHS, but not CoA, and higher PRRs across all diagnoses for males (LVOT PRR, 2.4) were noted. CoA PRRs were higher in border county vs. non-border county residents (PRR, 2.1). Maternal education and birthplace were not significant factors., Conclusions: There are rate differences for males among all 3 ethnic groups. Sex and ethnic differences suggest genetic etiologies, where the ethnic differences could be used to find susceptibility loci with mapping by admixture linkage disequilibrium. Increased CoA rates along the U.S.-Mexico border suggest environmental causes that will require further monitoring., (Copyright 2005 Wiley-Liss, Inc.)