Expanding Access to Fetal Telecardiology During the COVID-19 Pandemic.

Background: This study aims to describe one center's experience in expanding a fetal telecardiology program through collaborative work with maternal fetal medicine (MFM) clinics with the goal of safely reaching mothers during the COVID-19 pandemic. We sought to define the extent of fetal telehealth conversion at a large fetal cardiac care center and evaluate the diagnostic accuracy for studies performed. Methods: At our center, fetal telemedicine expanded from one MFM site before the pandemic to four additional sites by May 2020. A retrospective review of fetal telecardiology visits between March 15 and July 15, 2020, was performed. The chart was reviewed for confirmation of diagnosis postnatally. Results: With pandemic onset, there was a large increase in the number of telemedicine visits with a total of 122 mothers seen between five MFM clinics. Fourteen mothers (11.5%) had abnormal fetal echocardiograms requiring additional follow-up, and seven mothers (5.8%) had a fetal echocardiogram suspicious for a critical congenital heart disease (CCHD). All the fetal echocardiograms suspicious for CCHD were confirmed on postnatal echocardiogram. To our knowledge, none of the normal fetal echocardiograms were found to have congenital heart disease postnatally. Conclusions: In response to the COVID-19 pandemic, we rapidly transitioned to fetal telecardiology using a variety of formats. This has reduced potential infectious exposure for pregnant mothers and minimized contact between physicians without compromising diagnostic accuracy. In our experience, the expansion of a telemedicine program requires strong initial infrastructure, prior relationships with MFM providers, and appropriate training among obstetric sonographers.

Identical Twins Discordant for Metopic Craniosynostosis: Evidence of Epigenetic Influences.

Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. The genetic causes and molecular basis of these disorders have greatly expanded over the last 2 decades, with numerous causative and contributory mutations having been identified. The role of fibroblast growth factor receptor (FGFR) mutations in the etiology of certain eponymous forms of craniosynostosis is now well elucidated; the most common syndromes associated with craniosynostosis are Pfeifer (FGFR1, FGFR2), Apert (FGFR2), Crouzon (FGFR2), Saethre-Chotzen (TWIST1), Jackson-Weiss (FGFR2), Greig (GL13), and Muenke (FGFR3) syndromes. Although pathological expression of these mutations often results in bilateral coronal craniosynostosis, single suture fusions (typically unilateral coronal synostosis) or multiple suture craniosynostosis are possible.The majority of patients diagnosed with craniosynostosis lack an identifiable syndrome or genetic mutation. The etiopathogenesis of these "nonsyndromic" forms of craniosynostosis is believed to involve a complex interplay of genetics, epigenetics, and environmental factors. Evaluation of genes implicated in nonsyndromic craniosynostosis has been conflicting; some evidence demonstrates an interplay between genetic and epigenetic influences while others do not. Certain environmental factors such as teratogenic levels of retinoic acid, maternal metabolic and hematologic disorders, and head growth constraint in utero may increase the likelihood of developing craniosynostosis, but these associations are again tenuous.The authors present 1 of 2 genetically confirmed identical twins discordant for metopic craniosynostosis. The implications of this case are clear: epigenetic influences, environmental influences, or both played a role in the development of this premature suture fusion.

Metastatic unknown primary tumor presenting in pregnancy as multiple cerebral infarcts.

BACKGROUND: Cancer presenting during pregnancy is a rare event. There are no reports of an unknown primary tumor presenting during pregnancy. CASE: A 35-year-old primigravida presented at 16 weeks' gestation with multiple cerebral infarcts. After a negative workup she was discharged on anticoagulation therapy, only to return at 29 weeks with diffuse, metastatic cancer of unknown primary origin. After an elective 32-week delivery she received aggressive chemotherapy but ultimately died 5 months later. CONCLUSION: Malignancy should be included in the differential diagnosis of unusual, unexplained cases of thromboembolism in pregnancy.

Prenatal prediction of lethal pulmonary hypoplasia: the hyperoxygenation test for pulmonary artery reactivity.

OBJECTIVE: The purpose of this study was to determine the predictive accuracy of a test for neonatal death from pulmonary hypoplasia by measuring changes in fetal pulmonary artery blood flow on room air and during maternal hyperoxygenation. STUDY DESIGN: Women who were carrying fetuses with congenital anomalies that may cause pulmonary hypoplasia were offered participation in the study as part of a comprehensive fetal echocardiogram. Each fetus at > or =30 weeks of gestation underwent Doppler measurement of the blood flow pattern in the first branch of either the right or the left pulmonary artery before and again during exposure to maternal breathing of 60% oxygen by mask. An increase in the fetal pulmonary blood flow with oxygen (a decrease of > or =20% of the pulsatility index) was considered a reactive test. A change of <20% in the flow pattern during maternal hyperoxygenation was a nonreactive test and suggested pulmonary hypoplasia. The primary outcome for this study was neonatal death from pulmonary hypoplasia. RESULTS: Twenty-nine pregnancies met the criteria for inclusion in our study. Of the 14 fetuses who had a nonreactive hyperoxygenation test, 11 fetuses (79%) died of pulmonary hypoplasia. Of the 15 fetuses who had a reactive hyperoxygenation test, only one fetus (7%) died in the neonatal period. Sensitivity, specificity, and positive and negative predictive values were 92%, 82%, 79%, and 93%, respectively, with an odds ratio of 51 (95% CI, 4.6-560). CONCLUSION: Testing fetal pulmonary vascular reactivity with maternal hyperoxygenation is highly predictive of pulmonary hypoplasia. A reactive test predicted 92% of surviving infants; a nonreactive test predicted 79% of fetal deaths from pulmonary hypoplasia.