prenatal detection
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Chorioangioma is the most commonly occurring vascular, non-malignant placental tumor in pregnancy, with a reported incidence of 1% in all examined placentas. Nonetheless, real tumor incidence remains unknown because of small specimen sizes, which contributes to a lack of detection throughout the entire gestational period. Prenatal detection and diagnosis may be possible with ultrasound screening; however, most placental chorioangioma diagnoses are postnatal, based upon histopathological studies. This article report the case of postnatal diagnosis and associated complications in a 35-year-old patient with a 6 cm × 4 cm × 4 cm placental chorioangioma.

Objective We reviewed our center's prenatal detection and surgical experience with high-risk, 2-ventricle patients, with complex congenital heart disease that underwent stage-1 hybrid palliation. Methods We retrospectively identified those born between March 2008 and March 2021 with 2-ventricle hearts, complex congenital cardiovascular malformations, and ductal-dependent systemic circulation that underwent stage-1 hybrid palliation consisting of surgical bilateral pulmonary artery banding and interventional catheterization placed ductus arteriosus stents. Results We identified 30 patients. Of the 30, 19 (63%) were male. For the 30, median gestational age was 35 weeks (29-39 weeks), and median birth weight was 2.2 kg (0.6-4.5 kg). Of the 30, 1 was transferred from an adjacent state, and 29 were born in Nevada. Of the 29 born in Nevada, overall statewide prenatal detection was 18 of 29 (62%); however, for 2008 to 2011 the prenatal detection rate was 3 of 10 (30%) and 15 of 19 (79%) for 2012 to 2021, P = .03. For the last 5 years, prenatal detection for Nevada-born patients was 8 of 8 (100%). Two full-term newborns, without a prenatal diagnosis, presented postnatally in extremis. For the 30 patients, there were 0 stage-1 hybrid palliation mortalities, 1 subsequent repair mortality, and 3 late nonsurgical deaths. Conclusions Stage-1 hybrid palliation may result in excellent surgical outcomes for high-risk, 2-ventricle patients. Additionally, high rates of population-wide prenatal detection are possible for high-risk congenital heart disease, allowing prenatal planning and possibly reducing postnatal extremis presentations.

Hypothalamic hamartomas (HH) are rare, basilar developmental lesions with widespread comorbidities often associated with refractory epilepsy and encephalopathy. Imaging advances allow for early, even prenatal, detection. Genetic studies suggest mutations in GLI3 and other patterning genes are involved in HH pathogenesis. About 50-80% of children with HH suffer from severe rage and aggression and a majority of cases exhibit externalizing disorders. Behavioral disruption and intellectual disability may predate epilepsy. Neuropsychological, sleep and endocrine disorders are typical. The purpose of this paper is to provide a summary of the current understanding of HH, and to highlight opportunities for future research.

AbstractBackgroundSickle cell disease (SCD) and beta thalassemia (β-thalassemia) are among the most common and severe genetically inherited disorders in the world. Although the maternal carrier status of these beta hemoglobinopathies is screened as a part of routine prenatal care in the US, the paternal carrier status is usually unavailable. Under this current screening paradigm, identification of the majority of SCD and beta thalassemia cases could therefore be delayed until newborn screening results are available. An effective reflex, non-invasive prenatal test (NIPT) that uses only maternal blood would permit prenatal detection of sickle cell disease and beta thalassemia by screening for these disorders without the need for paternal DNA. This screening would enable patients and healthcare providers to make informed decisions about diagnostic testing, and it could expand gene therapy treatment options by requesting cord blood banking at delivery. We have previously developed a single-gene NIPT platform (UNITY™) for SCD and beta thalassemia with extensive analytic validation and initial clinical validation in our prior studies.ObjectivesThe objective of this study is to further assess the clinical validity of single-gene NIPT for SCD and beta thalassemia in a larger pregnancy population.Study DesignPregnant women who screened positive for at least one allele of a beta hemoglobinopathy were enrolled at two academic medical centers for this retrospective cohort study. Single-gene NIPT for SCD and beta thalassemia was performed in blinded fashion on maternal blood samples to determine the fetal genotype and disease status. Single-gene NIPT findings were compared with either newborn screen results or genotyping of umbilical cord blood.ResultsSingle-gene NIPT detection of fetuses that are affected versus unaffected with SCD and beta thalassemia was 100% concordant with newborn screening follow-up data, even in challenging samples that contained a low fetal fraction (<5%) or at earlier gestational ages. Additionally, we obtained 98.5% concordance with newborn genotypes, including differentiating healthy fetal sickle cell carriers from homozygous healthy fetuses. The sensitivity of detecting fetal carrier status of beta hemoglobinopathies was 100% (90.8% to 100% CI), and the specificity was 96.4% (81.7% to 99.9 % CI).ConclusionsSingle-gene NIPT is a highly accurate screen for prenatal detection of SCD and beta thalassemia. The results further suggest that the maternal carrier screen with reflex single-gene NIPT workflow can significantly improve the detection rates of at-risk pregnancies from <50% to >98%.AJOG at a GlanceA.Why was this study conducted?Effective non-invasive prenatal testing (NIPT) is needed to permit safe in utero diagnosis of sickle cell disease (SCD) and beta thalassemia (β-thalassemia), and permit collection and banking of cord blood for future cell therapy. We have previously developed a single-gene NIPT method for SCD and β-thalassemia, with extensive analytic validation and initial clinical validation in our prior studies.B.What are the key findings?Our single-gene NIPT detection of SCD and β-thalassemia disease was 100% concordant with newborn screening follow-up data in 79 pregnancies at risk for beta hemoglobinopathies. Furthermore, a more stringent requirement, the detection of exact fetal genotype, was concordant in 67 out of 68 (98.5%) of pregnancies.C.What does this study add to what is already known?Our results validated that single-gene NIPT is an accurate and significantly improved screen for prenatal detection of SCD and β-thalassemia compared to current carrier screen workflow.