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Autoimmune Congenital Complete Heart Block: How Late Can It Occur?
Conclusion Later-onset autoimmune CHB in offspring of SSA/SSB-positive mothers does occur. Our analysis suggests that prenatal surveillance should continue beyond 24 weeks of GA but is limited by inconsistent published surveillance data. [...] Thieme Medical Publishers, Inc. 333 Seventh Avenue, 18th Floor, New York, NY 10001, USAArticle in Thieme eJournals: Table of contents  |  Abstract  |  open access Full text (Source: American Journal of Perinatology Reports)
Source: American Journal of Perinatology Reports - May 8, 2023 Category: Perinatology & Neonatology Authors: Makadia, Luv Izmirly, Peter Buyon, Jill P. Phoon, Colin K. L. Tags: Review Article Source Type: research

A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites
We report a case of a patient with severe fetal hydrops and refractory ascites, diagnosed as mucopolysaccharidosis type VII (MPS VII) by whole-exome sequencing, and discharged at 5 months of age after long-term ventilatory management. A male neonate was born by emergency cesarean section due to fetal distress at 301/7 weeks' gestation. Physical examination and X-rays revealed pleural effusion, ascites, and generalized edema, indicating severe fetal hydrops. He underwent tracheal intubation because of respiratory distress that was attributed to massive ascites, pulmonary hypoplasia, and pulmonary hypertension. He received m...
Source: American Journal of Perinatology Reports - March 16, 2023 Category: Perinatology & Neonatology Authors: Fukui, Kana Amari, Shoichiro Yotani, Nobuyuki Kosaki, Rika Hata, Kenichiro Kosuga, Motomichi Sago, Haruhiko Isayama, Tetsuya Ito, Yushi Tags: Case Report Source Type: research

Complete Resolution of Nonimmune Hydrops Fetalis Secondary to Maternal Syphilis Infection
AJP Rep 2023; 13: e21-e24 DOI: 10.1055/a-2028-7727Maternal syphilis infection is a common infectious cause of nonimmune hydrops fetalis. Generally, hydrops fetalis is equated with poor prognoses in affected pregnancies. A 38-year-old G5P2114 presented at 285/7 weeks' gestation with newly diagnosed primary syphilis infection, sonographic findings of hydrops fetalis, and elevated middle cerebral artery Dopplers concerning for fetal anemia. Following treatment with intramuscular penicillin, the symptoms of hydrops fetalis were resolved and our patient delivered a healthy male neonate with no signs of congenital syphilis at th...
Source: American Journal of Perinatology Reports - March 16, 2023 Category: Perinatology & Neonatology Authors: Dinicu, Andreea Penalosa, Patrick Crosland, Brian A. Steller, Jonathan Tags: Case Report Source Type: research

Therapeutic Hypothermia Treatment for an Infant with Hypoxic-Ischemic Encephalopathy and Gastroschisis: A Case Report
We present the case of a female infant with a prenatal diagnosis of gastroschisis who required a prolonged and complex resuscitation after delivery. In addition to her gastroschisis, she presented with a history and physical examination consistent with severe hypoxic-ischemic encephalopathy and was treated with therapeutic hypothermia (TH) without further compromise to her bowel. In addition, careful consideration of neuroprotection, fluid status, bowel viability, and hemodynamics were undertaken in her care. She was discharged home on full enteral feeds, with only mild language and gross motor delays at 6 months of age. T...
Source: American Journal of Perinatology Reports - March 15, 2023 Category: Perinatology & Neonatology Authors: Flores-Fenlon, Nicole Shafer, Grant Awan, Saeed Ahmad, Irfan Tags: Case Report Source Type: research

Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error
AJP Rep 2023; 13: e11-e16 DOI: 10.1055/a-2032-9737Total parental nutrition (TPN) is a critical component of neonatal intensive care. Supply shortages leading to deficiencies in TPN constituents can have devastating consequences for critically ill patients in the neonatal intensive care unit (NICU), who may be initially misdiagnosed as potential inborn errors of metabolism. Here, we present three cases of patients with prolonged TPN dependence due to intra-abdominal pathology who presented with signs and symptoms concerning for metabolic disorders and who were ultimately determined to be a result of vitamin deficiencies in ...
Source: American Journal of Perinatology Reports - March 13, 2023 Category: Perinatology & Neonatology Authors: Shafer, Grant J. Abdenur, Jose E. Dhar, Vijay Mikhael, Michel Tags: Case Report Source Type: research

Disseminated Juvenile Xanthogranuloma with a Novel MYH9-FLT3 Fusion Presenting as a Blueberry Muffin Rash in a Neonate
We describe a rare case of an infant born with disseminated JXG who presented with a blueberry muffin rash at birth. A term infant was noted to have multiple petechiae, purple nodules, and macules (1 mm–2 cm in diameter) and hepatosplenomegaly, at the time of birth. Further investigations revealed thrombocytopenia and direct hyperbilirubinemia and a magnetic resonance imaging showed scattered tiny foci of restricted diffusion in multiple areas of the brain. Patient received multiple platelet transfusions in the first few weeks with gradual improvement in thrombocytopenia. Ultimately, a biopsy of one of the lesions re...
Source: American Journal of Perinatology Reports - February 17, 2023 Category: Perinatology & Neonatology Authors: Clark, Emily E. Walton, Mollie Chow, Lionel M.L. Boyd, J Todd Yohannan, M David Arya, Shreyas Tags: Case Report Source Type: research

Pregnancy in a Patient with Idiopathic Pulmonary Fibrosis: A Case Report
We present the case of a 35-year-old woman, gravida 1 para 0 with familial IPF with no oxygen requirement prior to pregnancy. The patient demonstrated significant deterioration in her lung function beginning at 22 weeks' gestation and underwent hospitalization at 272/7 weeks gestation due to acute on chronic hypoxic respiratory failure, ultimately requiring delivery at 28 weeks' gestation. The patient has not regained her baseline pulmonary function and remains oxygen dependent at 5 months postpartum. Based on limited available data, significant maternal morbidity and mortality is reported for women with IPF who become pre...
Source: American Journal of Perinatology Reports - January 23, 2023 Category: Perinatology & Neonatology Authors: Horgan, Rebecca Kassem, Zeinab Too, Gloria Abuhamad, Alfred Warsof, Steven Tags: Case Report Source Type: research

Paradoxical Continuous Left-to-Right Ductal Shunt during Circulatory Collapse due to Ductal Closure in an Infant with Duct-Dependent Systemic Circulation
We report a continuous left-to-right ductal shunt throughout the cardiac cycle during the initial recovery phase from circulatory collapse and right ventricular (RV) dysfunction due to ductal closure in an infant with hypoplastic left heart and severe aortic coarctation. Further recovery improved his RV function and changed the ductal flow from continuous left-to-right to bidirectional, which is usually seen in duct-dependent systemic circulation. Marked RV dysfunction may contribute to the continuous left-to-right ductal shunt. A continuous left-to-right ductal shunt should not be used to rule out duct-dependent systemic ...
Source: American Journal of Perinatology Reports - December 27, 2022 Category: Perinatology & Neonatology Authors: Miyahara, Naoyuki Hussein, Mohamed Hamed Nishiguchi, Ryou Kanai, Masayo Ishiguro, Akio Toda, Koichi Kojima, Takuro Yoshiba, Shigeki Sumitomo, Naokata Masutani, Satoshi Tags: Case Report Source Type: research

Osteogenesis Imperfecta: Multidisciplinary and Goal-Centered Care
We describe a case of osteogenesis imperfecta (OI) in a late preterm female of 35-week gestation. The mother did have a history of substance abuse, poor prenatal care, and hypertension. On the day of delivery, an ultrasound revealed skeletal dysplasia and breech with nonreassuring fetal tracing, leading to an emergency cesarean. The clinical exam was concerning for OI, and postnatal care was focused on optimizing respiratory status and minimizing pain and discomfort during routine care. Genetics, endocrine, orthopaedics, and palliative care were all involved to diagnose and educate the family. Support and education were ne...
Source: American Journal of Perinatology Reports - September 30, 2022 Category: Perinatology & Neonatology Authors: Chang, Bryston Keating, Sarah Mikhael, Michel Lim, Jina Tags: Case Report Source Type: research

Osteogenesis Imperfecta: Multidisciplinary and Goal-Centered Care
We describe a case of osteogenesis imperfecta (OI) in a late preterm female of 35-week gestation. The mother did have a history of substance abuse, poor prenatal care, and hypertension. On the day of delivery, an ultrasound revealed skeletal dysplasia and breech with nonreassuring fetal tracing, leading to an emergency cesarean. The clinical exam was concerning for OI, and postnatal care was focused on optimizing respiratory status and minimizing pain and discomfort during routine care. Genetics, endocrine, orthopaedics, and palliative care were all involved to diagnose and educate the family. Support and education were ne...
Source: American Journal of Perinatology Reports - September 29, 2022 Category: Perinatology & Neonatology Authors: Chang, Bryston Keating, Sarah Mikhael, Michel Lim, Jina Tags: Case Report Source Type: research

A Newborn Infant with Congenital Central Hypoventilation Syndrome and Pupillary Abnormalities: A Literature Review
We present a neonate with early onset apnea and bradycardia in the absence of primary cardiorespiratory and central nervous system disorders that eventually required chronic ventilator support starting at 6 hours of life. Molecular testing of paired-like homeobox 2b (PHOX2B) gene mutation confirmed the diagnosis of congenital central hypoventilation syndrome (CCHS). CCHS is a rare genetic disorder characterized by impaired central respiratory control with or without broad spectrum of autonomic nervous system (ANS) dysregulations. Ocular ANS dysregulation is a rare finding in CCHS individuals, and it is usually discovered...
Source: American Journal of Perinatology Reports - September 29, 2022 Category: Perinatology & Neonatology Authors: Harsono, Mimily Chilakala, Sandeep Bohn, Shiva Pivnick, Eniko K. Pourcyrous, Massroor Tags: Case Report Source Type: research

The Relationship between Food Security and Gestational Diabetes among Pregnant Women
The objective were to: (1) evaluate associations between food security and women diagnosed with gestational diabetes mellitus (GDM) and (2) evaluate if women in food insecure (FI) households had adverse maternal and neonatal outcomes. This was an observational study from October 2018 until September 2019. Postpartum resident clinic patients who delivered term, singleton infant at 37 weeks' or longer gestation were screened. Participants completed a survey using the U.S. Household Food Security Survey Module (US HFSSM). Survey responses were classified as: food secure (FS) and FI (marginal, low, very low FS). The primary ou...
Source: American Journal of Perinatology Reports - August 25, 2022 Category: Perinatology & Neonatology Authors: Cooper, Shontreal Graham, Maura Kuo, Chia-Ling Khangura, Raminder Schmidt, Adrienne Bakaysa, Stephanie Tags: Case Report Source Type: research

Prenatal Diagnosis of Arhinia
We present a case of isolated arhinia diagnosed on second-trimester ultrasound. A patient presented for routine ultrasound at 18 weeks gestation, and nasal tissues were absent in an otherwise morphologically normal appearing fetus. Cell free fetal DNA was unremarkable. The patient elected to undergo termination of pregnancy by dilation and evacuation. Subsequent genetic analysis confirmed a normal fetal karyotype and microarray, and no examination of fetal structural anatomy was possible. Antenatal diagnosis of arhinia is important to guide maternal–fetal care decisions and requires methodical sonographic evaluation to i...
Source: American Journal of Perinatology Reports - August 6, 2022 Category: Perinatology & Neonatology Authors: Zemtsov, Gregory E. Swartz, Anthony E. Kuller, Jeffrey A. Tags: Case Report Source Type: research

Early-Onset Neonatal Sepsis Caused by Vertical Transmission of Pasteurella multocida
We report a case of a term neonate who presented with respiratory distress, lethargy, and hypoglycemia 5 hours after birth. He was treated for presumed EOS with blood culture, revealing an unusual pathogen, Pasteurella multocida. Sepsis from this pathogen is a rarely reported cause of early onset neonatal sepsis. Our report is one of few that implicate vertical transmission with molecular diagnostic confirmation of P. multocida, subspecies septica. The neonate was treated with antibiotics and supportive care and recovered without ongoing complications. Providers should maintain an index of suspicion for rare causes of ne...
Source: American Journal of Perinatology Reports - August 6, 2022 Category: Perinatology & Neonatology Authors: Scheurer, Johannah M. Fanta, Meghan L. Colbenson, Gretchen A. Arbefeville, Sophie Ferrieri, Patricia Tags: Case Report Source Type: research

Early-Onset Fulminant Sepsis in a Preterm Neonate due to Streptococcus gallolyticus: A Case Report and Literature Review
We describe the first case of fulminant lethal neonatal sepsis due to S. gallolyticus reported in literature. Our patient was an extremely low birth weight premature infant born to a mother with prolonged rupture of amniotic membranes and chorioamnionitis. We also review the cases of neonatal S. gallolyticus infections reported in literature. Fifty-eight percent neonatal S. gallolyticus infections presented in the first week of life. Importantly, S. gallolyticus meningitis is more commonly reported with early-onset infections compared with group B streptococcal meningitis, which is more common with late-onset infections. S...
Source: American Journal of Perinatology Reports - March 14, 2022 Category: Perinatology & Neonatology Authors: Williams, Chandler Sakaria, Rishika P. Pourcyrous, Massroor Tags: Case Report Source Type: research