Concurrent Bronchopulmonary Sequestration in Congenital Diaphragmatic Hernia: Is Frequency Increasing or Are We Better at Diagnosis?

Objective: To assess the incidence and clinical outcomes of neonates with congenital diaphragmatic hernia with patients with concurrent bronchopulmonary sequestration (CDH + BPS).

Study Design: In this retrospective cohort study, we compared BPS diagnoses in patients with CDH across 4 epochs (2002-2008, 2009-2015, 2016-2019, 2020-2023) to assess incidence and outcomes of neonates with CDH + BPS. Because of marked epoch differences in key outcomes, we only compared extracorporeal membrane oxygenation use and survival for CDH + BPS and CDH alone across the final 2 epochs using multinominal regression analysis.

Applying citizen science to engage families affected by ovarian cancer in developing genetic service outreach strategies.

Citizen science (CS) approaches involving non-professional researchers (citizens) as research collaborators has been used infrequently in health promotion generally and specifically, in cancer prevention. Standardized CS approaches may be especially useful for developing communication interventions to encourage families to consider cancer genetic services. We engaged survivors of ovarian cancer and their close relatives as CS collaborators to collect and help interpret data to inform content for a website, printed invitation materials, and short-message reminders.

Barriers to Sonographer Screening for Fetal Heart Defects: A U.S. National Survey.

Objective: We surveyed obstetric sonographers, who are at the forefront of the screening process to determine how barriers to prenatal cardiac screening impacted screening abilities.

Methods: We performed a cross-sectional national survey of obstetric sonographers in the United States using a sampling frame from American Registry of Diagnostic Medical Sonography mailing lists. The web survey measured the ability to obtain and interpret fetal heart images.

Consensus-based care recommendations for adults with myotonic dystrophy type 1.

Purpose Of Review: Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit.

Recent Findings: The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations.

Etiology and clinical presentation of birth defects: population based study.

 To assess causation and clinical presentation of major birth defects. Population based case cohort. Cases of birth defects in children born 2005-09 to resident women, ascertained through Utah's population based surveillance system.

Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997-2011.

Typically gastroschisis is considered an isolated birth defect; however, other major malformations are reported to occur in 5-35% of cases depending on inclusion criteria. This study evaluated the associated malformations, small for gestational age, and survival among a clinically well-characterized population-based gastroschisis cohort, delivered from 1997-2011. We used data from Utah's statewide population-based surveillance system, which monitors major structural birth defects among all pregnancy outcomes (i.

Risk factors for Dandy-Walker malformation: a population-based assessment.

Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, but its causes are largely unknown. An increasing number of genes associated with congenital cerebellar malformations have been identified; however, few studies have examined the potential role of non-genetic, potentially modifiable risk factors. From the National Birth Defects Prevention Study, we examined maternal, paternal, and infant characteristics and maternal conditions and periconceptional exposures (from 1 month before to 3 months after conception) among infants with DWM (n = 160) and unaffected controls (n = 10,200), delivered between 1997 and 2009.

Admission to a dedicated cardiac intensive care unit is associated with decreased resource use for infants with prenatally diagnosed congenital heart disease.

Many factors in the delivery and perinatal care of infants with a prenatal diagnosis of congenital heart disease (CHD) have an impact on outcome and costs. This study sought to determine the modifiable factors in perinatal management that have an impact on postnatal resource use for infants with CHD. The medical records of infants with prenatally diagnosed CHD (August 2006-December 2011) who underwent cardiac surgery before discharge were reviewed.

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized by growth retardation, cognitive impairment, external and internal structural malformations, and characteristic facial features. Currently, there are no definitive prenatal screening measures that lead to the diagnosis of CdLS. In this study, documented prenatal findings in CdLS syndrome were analyzed towards the development of a prenatal profile predictive of CdLS.

Analysis of skeletal dysplasias in the Utah population.

The Utah Birth Defect Network (UBDN) collects population-based data for Utah on births from all resident women. The prevalence of skeletal dysplasias and epidemiologic characteristics/outcomes were evaluated. Cases categorized as a skeletal dysplasia from all live births, stillbirths, and pregnancy terminations (TAB) between 1999 and 2008 were reviewed by three clinical geneticists.

Group A streptococcal puerperal sepsis: initial characterization of virulence factors in association with clinical parameters.

Group A beta-hemolytic streptococcus (GAS) is an uncommon but potentially fatal source of postpartum infection. Pathogenesis in invasive GAS infections has been linked to bacterial virulence factors. In this study, we sought to provide an initial description of potential virulence factors in association with puerperal morbidity by virtue of specific M-protein type antigens.

Reliability of fetal middle cerebral artery velocity measurements: a randomized controlled trial of sonographer training.

Objective: The purpose of this study was to determine the reliability of fetal middle cerebral artery (MCA) peak systolic velocity (PSV) measurements at a tertiary care center and to evaluate the effect of targeted training for sonographers.

Methods: Six sonographers were randomized to training modules for fetal MCA PSV or amniotic fluid volume (AFV) measurements. Six fetuses of uncomplicated pregnancies were selected for participation.

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

Context: Hypophosphatasia (HPP) is a heritable metabolic disorder of the skeleton that includes variable expressivity conditioned by gene dosage effect and the variety of mutations in the tissue nonspecific alkaline phosphatase (TNSALP) gene. Patient age when skeletal problems first manifest generally predicts the clinical course, with perinatal HPP causing bone disease in utero with postnatal lethality.

Objective: Our objective was to identify TNSALP mutations and characterize the inheritance pattern of a family with clinically variable HPP with one child manifesting in utero with long bone deformity but showing spontaneous prenatal and postnatal improvement.

Unilateral short femur--what does this mean? Report of 3 cases.

Objectives: This study aims to: (1) characterize the prenatal diagnosis of short femur; (2) describe typical findings of proximal focal femoral deficiency; and (3) review the most common differential diagnoses for short femur(s).

Methods: We present 3 examples of prenatally diagnosed proximal focal femoral deficiency and briefly reviewed the differential diagnosis of short femur(s) in utero and associations such as ethnic variation, trisomy 21, and diabetic embryopathy.

Results: Multiple cases are presented in which a short femur (unilateral or bilateral) is the dominant finding on prenatal ultrasound.

Seven-week embryo with gastroschisis, multiple anomalies, and physiologic hernia suggests early onset of gastroschisis.

Gastroschisis is an increasingly common birth defect involving the development of the ventral body wall. Extrusion of the bowel is usually paraumbilical, usually right sided, and associated anomalies are less common than in omphalocele. Recently, hypotheses regarding the timing of the typical gastroschisis defect have come into question.

Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes.

We report on a mother and son affected with an unusual skeletal dysplasia and anterior segment eye abnormalities. Their skeletal phenotype overlaps with the SHOX-related skeletal dysplasias and is intermediate between Leri-Weill dyschondrosteosis (LWD) and Langer Mesomelic dysplasia (LMD). The mother has bilateral Peters anomaly of the eye and was reported as having a new syndrome; the son had severe bilateral sclerocornea.

Mortality and pathological findings in C (Opitz trigonocephaly) syndrome.

Even as a rare multiple congenital anomalies/mental retardation syndrome, the C-syndrome (CS, or Opitz C-trigonoecephaly syndrome) is, at long last, beginning to attract attention because of its developmental and causal complexity. Also, the possibility that the apparently balanced translocation recently described in an affected Japanese boy may soon provide a molecular/causal insight into this disorder. The manifestations recorded in the previously published patients, those autopsied within recent years, and the unpublished instances in our files suggest that the CS is a heterogeneous genetic disorder, predominantly sporadic but with sufficient familial cases (at times with consanguinity) to allow postulation of an entity due to autosomal dominant mutations with a high rate of germinal mosaicism, or due to both autosomal dominant mutations and an autosomal recessive genocopy.

Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations.

Schizencephaly is a rare malformation of the central nervous system. Prenatal ultrasound (US) allows diagnosis of schizencephaly, although prenatal magnetic resonance (MR) imaging is even more specific in detection of gray matter lining the defect, communication with the ventricle, and other associated structural abnormalities. Six cases of schizencephaly were evaluated at one institution; prenatal US was performed in all cases, and fetal MR imaging was performed in three cases.