Transitioning from the safety of the womb to the outside world for neonates with life-threatening cardiovascular conditions: The IMmediate Postpartum Access to Cardiac Therapy (IMPACT) Procedure.

The IMmediate Postpartum Access to Cardiac Therapy (IMPACT) procedure is a multidisciplinary, collaborative, highly coordinated clinical service in which a planned delivery and intensive neonatal care are offered for conditions where there is a high likelihood of postnatal instability. This process includes prenatal consultation with the parent(s), involving each service engaged with the delivery, postnatal resuscitation, and procedural care. A Cesarean section delivery is planned in an operating room with immediate access to a multifunctional procedural suite where the neonate can undergo rapid cardiac evaluation and initiation of interventional treatments which can have a positive, life-saving impact.

Cord blood for autologous transfusion in infants with congenital anomalies: Volumes, sterility, and stability during storage.

Background: Neonates with congenital anomalies frequently require perioperative allogeneic red blood cell (RBC) transfusion. Whole cord blood for autologous transfusion to neonates may provide an alternative RBC source, but whether sufficient volumes can be collected after delayed cord clamping to reduce allogeneic RBC requirements is unknown.

Study Design And Methods: Inclusion criteria were mothers delivering a viable infant >34 weeks' gestation.

In utero progression of cephaloceles: prenatal to postnatal analysis.

Objective: The natural history of cephaloceles is not well understood. The goal of this study was to better understand the natural history of fetal cephaloceles from prenatal diagnosis to the postnatal period.

Methods: Between January 2013 and April 2023, all patients evaluated with a cephalocele at the Center for Fetal Diagnosis and Treatment were identified.

Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.

We report a 28-year-old G2P0 at 24 weeks 5 days who presented for evaluation secondary to suspected skeletal dysplasia in her fetus. Fetal ultrasound imaging demonstrated foreshortened long bones by 9-10 weeks, multiple bowing deformities and fractures, 11 foreshortened paired ribs with fractures, decreased skull mineralization, frontal bossing, enlarged cavum septum pellucidi, and severe fetal growth restriction (< 2%). Findings were concerning for life limiting condition with thoracic circumference < 2.

Detailed analysis of cystic lesions in patients after open fetal repair and postnatal myelomeningocele closure.

Purpose: We sought to evaluate the incidence, natural history, and management of cystic spinal lesions following myelomeningocele/myeloschisis closure.

Methods: We performed a single-center retrospective review of all patients who underwent myelomeningocele/myeloschisis closure from 2013 to 2018 with follow-up to 5 years old.

Results: We analyzed 100 fetal repairs and 81 postnatal closures from 305 total surgeries.

Whole Exome Sequencing in a Population of Fetuses With Structural Anomalies.

Objective: To investigate the exome sequencing (ES) detection rate among fetuses with congenital anomalies and describe the rates in the setting of multiple versus isolated anomalies, perinatal autopsy, and family history of a previously affected child.

Methods: A single-center retrospective chart review was conducted on 397 anomalous fetuses that underwent ES from May 2012 through December 2023. Medical record review included demographics, imaging, and genetic testing.

Selective termination: a life-saving procedure for complicated monochorionic gestations.

Monochorionic twin pregnancies are a subset of twin pregnancies that face potential complications related to a shared circulation between the fetuses. These complications are related to anastomotic placental vessels connecting the cardiovascular systems of the two fetuses, which can result in significant sequela if one twin experiences intrauterine death. The sudden cardiovascular collapse in this scenario leads to a massive blood shift away from the healthy co-twin, significantly jeopardizing its life and long-term neurodevelopmental outcome.

The clinical significance of lack of hindbrain herniation in fetal myelomeningocele/myeloschisis patients.

Objective: Hindbrain herniation (HH) is a clinical prerequisite for prenatal repair of myelomeningocele/myeloschisis; however, a subset of patients lack HH on initial fetal imaging and may ultimately progress to exhibit herniation on subsequent prenatal or postnatal imaging. The authors sought to explore the cohort of patients without HH at the time of initial fetal consultation for myelomeningocele/myeloschisis repair to define their clinical characteristics and outcome.

Methods: From July 2016 to July 2022, patients evaluated at the Children's Hospital of Philadelphia Center for Fetal Diagnosis and Treatment for myelomeningocele/myeloschisis were classified into two cohorts: those with and those without HH.

Delivery Room Management of Infants with Surgical Conditions.

Delivery room resuscitation of infants with surgical conditions can be complex and depends on an experienced and cohesive multidisciplinary team whose performance is more important than that of any individual team member. Existing resuscitation algorithms were not developed for infants with congenital anomalies, and delivery room resuscitation is largely dictated by expert opinion extrapolating physiologic expectations from infants without anomalies. As prenatal diagnosis rates improve, there is an increased ability to plan for the unique delivery room needs of infants with surgical conditions.

The Reliability of Ultrasound Markers in Identifying Fetuses With a Life-Limiting Skeletal Dysplasia.

Objective: To determine the diagnostic performance of ultrasound markers associated with life-limiting fetal skeletal dysplasia in a fortified cohort.

Methods: Retrospective review from 2013 to 2023 of pregnancies with suspected fetal skeletal dysplasia. Ultrasound evaluation included measurements predictive of a life-limiting dysplasia: thoracic circumference/abdominal circumference (TC/AC) < 0.

Progesterone for Neurodevelopment in Fetuses With Congenital Heart Defects: A Randomized Clinical Trial.

Importance: Neurodevelopmental outcomes for children with congenital heart defects (CHD) have improved minimally over the past 20 years.

Objectives: To assess the feasibility and tolerability of maternal progesterone therapy as well as the magnitude of the effect on neurodevelopment for fetuses with CHD.

Design, Setting, And Participants: This double-blinded individually randomized parallel-group clinical trial of vaginal natural progesterone therapy vs placebo in participants carrying fetuses with CHD was conducted between July 2014 and November 2021 at a quaternary care children's hospital.

Is there an increased risk of genetic abnormalities in fetuses with congenital heart disease in the setting of growth restriction?

Objective: To determine if the presence of fetal growth restriction (FGR) is associated with an increased risk of genetic abnormalities in the setting of congenital heart disease (CHD).

Methods: This was a retrospective cohort study involving pregnancies that met the following criteria: (i) prenatal diagnosis of CHD, (ii) singleton live-birth, and (iii) genetic testing was performed either pre- or postnatally. Genetic results were reviewed by a clinical geneticist for updated variant classification.

Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings.

Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.

Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies.

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

Oculocerebrorenal syndrome (Lowe syndrome) is a rare X-linked disorder affecting 1/500,000 males that most frequently affects the eyes, central nervous system, and kidneys. Phenotypic presentation includes congenital cataracts, developmental delay, intellectual disability, and Fanconi-type renal dysfunction. Lowe Syndrome is caused by hemizygous loss of function variants in the OCRL gene.

Fetus with multiple congenital anomaly syndrome caused by novel variant in ATP1A2.

We report a 32-year-old G3P1 at 35 weeks 3 days with a dichorionic, diamniotic twin gestation who presented for evaluation secondary to ventriculomegaly (VM) in one twin. Fetal ultrasound and MRI demonstrated microcephaly, severe VM, compression of the corpus callosum, scalp and nuchal thickening, elongated ears, bilateral talipes, right-sided congenital diaphragmatic hernia (CDH), and loss of normal cerebral architecture, indicative of a prior insult in the affected twin. The co-twin was grossly normal.

Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome.

Background: Enlarged cavum septum pellucidum (CSP) and hypoplastic thymus are proposed extra-cardiac fetal markers for 22q11.2 deletion syndrome. We sought to determine if they were part of the fetal phenotype of our cohort of fetuses with 22q11.

Predictors of Poor Outcomes in Monochorionic Diamniotic Twin Pregnancies Complicated by Selective Fetal Growth Restriction.

Introduction: The aim of the study was to identify predictors of poor outcomes in monochorionic diamniotic twin (MCDA) pregnancies with selective fetal growth restriction (sFGR), irrespective of the umbilical artery (UA) Doppler abnormalities.

Methods: Single-center retrospective analysis of MCDA twins diagnosed with sFGR that opted for expectant management between 2010 and 2021. The presence of any of the following variables in the growth-restricted fetus: low amniotic fluid volume (DVP ≤2 cm), lack of a cycling bladder, absent or reversed flow in the ductus venosus (DV) with atrial contraction, and elevated middle cerebral artery peak systolic velocity (MCA-PSV) defined as ≥1.

The Delivery Room Resuscitation of Infants with Congenital Diaphragmatic Hernia Treated with Fetoscopic Endoluminal Tracheal Occlusion: Beyond the Balloon.

Introduction: Randomized controlled trials found that fetoscopic endoluminal tracheal occlusion (FETO) resulted in increased fetal lung volume and improved survival for infants with isolated, severe left-sided congenital diaphragmatic hernia (CDH). The delivery room resuscitation of these infants is particularly unique, and the specific delivery room events are largely unknown. The objective of this study was to compare the delivery room resuscitation of infants treated with FETO to standard of care (SOC) and describe lessons learned.

Neonatal Survival After Serial Amnioinfusions for Bilateral Renal Agenesis: The Renal Anhydramnios Fetal Therapy Trial.

Importance: Early anhydramnios during pregnancy, resulting from fetal bilateral renal agenesis, causes lethal pulmonary hypoplasia in neonates. Restoring amniotic fluid via serial amnioinfusions may promote lung development, enabling survival.

Objective: To assess neonatal outcomes of serial amnioinfusions initiated before 26 weeks' gestation to mitigate lethal pulmonary hypoplasia.