American Journal of Perinatology Reports

Congenital maxillomandibular synechia is a rare malformation that is characterized by a fusion of the maxilla and mandible. The fusion is fibrous or bony and prevents mouth opening, which causes difficulties in feeding and occasionally in breathing. Although extremely rare, neonatologists must understand the disease because it can be fatal and require emergency treatment after birth. We report the case of a very-low-birth-weight (VLBW) infant with congenital maxillomandibular synechia and other malformations, including cleft palate, syndactyly, and cryptorchidism...

Objective  Maternal anti-Ro (SSA) and/or anti-La (SSB) antibodies are a risk factor for congenital complete heart block (CHB). Because detailed analysis of the incidence of CHB after 24 weeks of gestational age (GA) is lacking, we aimed to ascertain the risk of "later-onset" CHB among offspring of SSA/SSB-positive mothers in the published literature. Study Design  Using search terms "neonatal lupus heart block" and "autoimmune congenital heart block" on PubMed and Ovid, we gathered prospective studies of SSA/SSB-positive mothers with fetal echo surveillance starting from before CHB diagnosis and retrospective cases of fetal CHB diagnosis after 24 weeks of GA (if there was prior normal heart rate) or after birth...

Maternal 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 28 5/7 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 the time of delivery...

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 30 1/7 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...

Gastroschisis is a congenital, typically isolated, full-thickness abdominal wall defect in which the abdominal contents, usually only the small intestine, remain outside the abdominal cavity. It is commonly detected on fetal ultrasonography, and has generally excellent survival and outcomes, though these can be decreased in cases of complicated gastroschisis. 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...

Total 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 the TPN after unnecessary testing and interventions had occurred...

Juvenile xanthogranuloma (JXG) is a benign proliferative histiocytic disorder of the dendritic cell phenotype. It mostly presents in the pediatric age group as a solitary skin lesion. 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...

Idiopathic pulmonary fibrosis (IPF) is a progressive restrictive lung disease. Data on the impact of pregnancy on IPF and maternal outcome is extremely limited. 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 27 2/7 weeks gestation due to acute on chronic hypoxic respiratory failure, ultimately requiring delivery at 28 weeks' gestation...

Duct-dependent systemic circulation is accompanied by a right-to-left ductal shunt, at least during systole. Although observations of paradoxical continuous left-to-right shunts in duct-dependent systemic circulation have been reported, the mechanism remains unclear. 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...

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...

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...

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...

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)...

Arhinia is a rare congenital anomaly that is not typically associated with known genetic mutations and is usually discovered after an affected infant is born. Prenatal diagnosis is important because neonates with arhinia often require specialized respiratory support with creation of an artificial airway. 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...

Early-onset neonatal sepsis contributes substantially to neonatal morbidity and mortality. Presenting signs and symptoms vary, and most causes are due to a limited number of common microbes. However, providers must be cognizant of unusual pathogens when treating early-onset sepsis (EOS). 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 ...

Streptococcus gallolyticus is an uncommon cause of neonatal infections. 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...

A 41-year-old gravida 4 para 3 (G4P3) and 38 5/7 weeks pregnant woman presented to labor and delivery with dizziness, headache, and decreased fetal movement after 12 hours of exposure to carbon monoxide (CO) from a grill that was used inside for heat. The mother was hemodynamically stable, and her neurologic examination was intact. Her carboxyhemoglobin level, which was obtained 12 hours after removal from the CO exposure, was 7.4%. The fetus's heart rate was 173 beats per minute with moderate variability and one late appearing deceleration, not associated with contractions...

The limb-body wall complex (LBWC) aka body stalk syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks' gestation...

Objective  The objective of the study was to review the obstetric outcomes of complete hydatidiform molar pregnancies with a coexisting fetus (CHMCF), a rare clinical entity that is not well described. Materials and Methods  We performed a retrospective case series with pathology-confirmed HMCF. The cases were collected via solicitation through a private maternal-fetal medicine physician group on social media. Each contributing institution from across the United States ( n  = 9) obtained written informed consent from the patients directly, obtained institutional data transfer agreements as required, and transmitted the data using a Health Insurance Portability and Accountability Act of 1996 (HIPAA) compliant modality...

Today, more infants weighing less than or equal to 300 g are born, and they survive because of the improvements in neonatal care and treatment. However, their detailed clinical course and neonatal intensive care unit management remain unknown due to their low survival rate and dearth of reports. A male infant was born at 24 weeks and 5 days of gestation and weighed 258 g. The infant received 72 days of invasive and 92 days of noninvasive respiratory support, including high-frequency oscillatory ventilation with volume guarantee and noninvasive neurally adjusted ventilatory assist...