Maintaining access to maternal fetal medicine care by telemedicine during a global pandemic.

Objective: This study aims to compare a conventional medical treatment model with a telehealth platform for Maternal Fetal Medicine (MFM) outpatient care during the global novel coronavirus pandemic.

Methods: In this study, we described the process of converting our MFM clinic from a conventional medical treatment model to a telemedicine platform. We compared clinical productivity between the two models.

Healthcare recommendations for Joubert syndrome.

Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.

Beyond the Brochure: Innovations in Clinical Counseling Practices for Prenatal Genetic Testing Options.

Remarkable advancements related to preconception and prenatal genetic screening have emerged in recent years. While technology and testing options are more numerous and complex; fundamental genetic counseling issues remain the same. It is essential that with any prenatal genetic testing, women have an opportunity to make informed and autonomous decisions that are consistent with their personal needs and values.

Chorionic Villus Sampling, Early Amniocentesis, and Termination of Pregnancy Without Diagnostic Testing: Comparison of Fetal Risk Following Positive Non-invasive Prenatal Testing.

Background: With the increased accuracy of non-invasive prenatal testing (NIPT) based on cell-free DNA (cfDNA) techniques, the likelihood of false-positive screening results has been reduced for high-risk populations. Following a positive screening test, a diagnostic procedure to confirm the result is strongly recommended, although some patients have terminated pregnancies because of a positive NIPT alone. Chorionic villus sampling (CVS), the diagnostic procedure of choice in the first trimester, is not available in all locations.

Noninvasive prenatal testing: limitations and unanswered questions.

The clinical use of noninvasive prenatal testing to screen high-risk patients for fetal aneuploidy is becoming increasingly common. Initial studies have demonstrated high sensitivity and specificity, and there is hope that these tests will result in a reduction of invasive diagnostic procedures as well as their associated risks. Guidelines on the use of this testing in clinical practice have been published; however, data on actual test performance in a clinical setting are lacking, and there are no guidelines on quality control and assurance.

Questioning the costs and benefits of non-invasive prenatal testing.

Prenatal testing for Down syndrome through the use of non-invasive prenatal testing (NIPT) has been increasingly implemented in clinical practice and a recent cost analysis suggests that NIPT is cost effective when compared to other screening modalities in high risk populations. However, this anaylsis makes many assumptions regarding uptake of testing and pregnancy termination, which cannot be applied to all populations in the United States. Additionally, this cost analysis, which hinges on fewer Down syndrome births, does not align with the goals of prenatal testing to support autonomous and value consistent decisions.

Improving knowledge about prenatal screening options: can group education make a difference?

Objective: To determine if the addition of group education regarding maternal serum screening and diagnostic testing for aneuploidy and neural tube defects improves patient knowledge and affects the uptake of testing compared to individual education alone.

Method: We conducted a prospective study of 443 obstetric patients to assess knowledge of prenatal testing options based on individual provider counseling (n = 331) or provider counseling with supplemental group education (n = 112). We used a chi-square test to compare the number of correct survey answers between the two groups.

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with recurrent episodes of focal neuropathy primarily affecting the brachial plexus. Point mutations in the SEPT9 gene have been previously identified as the molecular basis of HNA in some pedigrees. However in many families, including those from North America demonstrating a genetic founder haplotype, no sequence mutations have been detected.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. Variable features include retinal dystrophy, cystic kidney disease, and liver fibrosis. JSRD are included in the rapidly expanding group of disorders called ciliopathies, because all six gene products implicated in JSRD (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67, and ARL13B) function in the primary cilium/basal body organelle.