AJP Reports最新文献

Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2, has led to a global health crisis. The virus can cause varying severity of liver injury, but the mechanism has not yet been elucidated, especially in pregnancy. We present a morbidly obese 30-year-old woman with COVID-19 at 28 weeks' gestation complicated by significant transaminitis with peak liver enzymes levels of 501/1,313 (aspartate aminotransferase/alanine aminotransferase). Liver biopsy showed reactive changes consistent with medication effect and mild steatosis. Significant transaminitis has been found in both pregnant and nonpregnant patients with COVID-19. Our case demonstrates the multifactorial nature of liver injury in COVID-19 patients including mild underlying liver steatosis combined with possible viral potentiation of medication effect.

Early diabetes screening is recommended for high-risk pregnant women risk via a 1-hour glucose challenge test (1-hour GCT). Hemoglobin A1c (HbA1c) can be obtained with initial obstetric laboratories. We sought to examine the relationship between HbA1c and 1-hour GCT for early diabetes screening in pregnancy. This is a retrospective cohort study of 204 high-risk pregnant women who underwent early HbA1c and 1-hour GCT. Simple logistic regression analysis was performed to predict abnormal 1-hour GCT and diagnosis of diabetes using HbA1c. A total of 158 (77.5%), 44 (21.5%), and 2 (1%) women had HbA1c of less than 5.7, 5.7 to 6.4, and 6.5% or higher, respectively. Seven of 158 (4.4%) women with HbA1c less than 5.7% and 8 of 44 (18.2%) with HbA1c of 5.7 to 6.4% had a diagnosis of diabetes. A positive correlation between early HbA1c and 1-hour GCT was detected. Logistic regression showed HbA1c significantly predicted the risk of diabetes but was not a good predictor of abnormal 1-hour GCT. HbA1c of 5.5% or less had a 97% or higher negative predictive value for early diabetes in pregnancy. There is a positive correlation between HbA1c and 1-hour GCT for the early screening of diabetes in pregnancy. Women with early HbA1c ≤ 5.5% could forego further testing in early pregnancy.

Down syndrome (DS, trisomy 21) with an extra copy of chromosome 21 is one of the most common aneuploidies in humans. Jacobs syndrome or XYY syndrome (trisomy XYY) with an extra copy of sex chromosome Y is a rare sex chromosome trisomy in males. Double aneuploidy (DA) with an extra copy of chromosome 21 and sex chromosome Y is an extremely rare occurrence. Most trisomy 21 results from nondisjunction during maternal oocyte meiosis-I, whereas trisomy XYY is results from nondisjunction during paternal spermatocyte meiosis-I. We present a case of natural conception premature newborn of 30.4 weeks gestational age who had a DS facial phenotype with extensive syndactyly on both hands and feet. Other multisystem congenital anomalies were discovered, including mal-aligned perimembranous ventricular septal defect, bicuspid aortic valve, Dandy-Walker malformation's tetra-ventriculomegaly, and a rare complete tracheal rings deformity (CTRD) with trachea stenosis. Prenatal amniocentesis and postnatal chromosomal karyotyping analysis detected 48, XYY, + 21 nontranslocation trisomy 21, and free-lying Y chromosome without translocation. The existence of DA is rarely reported in literature reviews. In this review, we will discuss the characteristics of DS and Jacobs syndrome as well as the associated multiorgan malformation including the rare lethal CTRD.

Congenital sodium diarrhea (CSD) is a rare, life-threatening condition characterized by intractable diarrhea, hyponatremia, and metabolic acidosis. It presents similarly to other congenital disorders and, therefore, is often misdiagnosed and mistreated. We present a case of CSD that presented with dilated loops of bowel and polyhydramnios at 18 weeks and was thought to be a congenital bowel obstruction. The patient was therefore managed surgically after birth with a diverting ileostomy, however was later found to have elevated stool sodium levels and metabolic derangements consistent with CSD. Our case demonstrates the need for high index of suspicion for congenital diarrheal disorders to prevent unnecessary surgery and a delay in appropriate medical management of this rare condition.

Background  Although the use of neuraxial analgesia has been shown to improve uteroplacental blood flow and maternal and fetal hemodynamics related to labor pain, possibly improving immediate outcomes in term neonates, the association between neuraxial analgesia use and outcomes in preterm neonates remains unclear. Objective  The aim of this article was to evaluate the association between maternal use of neuraxial analgesia and neonatal outcomes in very preterm infants. Methods  This is a retrospective cohort study of women delivering singleton neonates between 23 and 32 weeks' gestation at a large academic center between 2012 and 2016. Outcomes of neonates born to women who used neuraxial analgesia for labor and/or delivery were compared to those whose mothers did not. Multivariable logistic regression was utilized to assess the independent associations of neuraxial analgesia use with neonatal outcomes after controlling for potential confounders, including gestational age, mode of delivery, and existing interventions to improve neonatal outcomes of prematurity. Results  Of 478 eligible women who delivered singleton very preterm neonates in this study period, 352 (73.6%) used neuraxial analgesia. Women who used neuraxial analgesia were more likely to have delivered at a later preterm gestational age, to have a higher birthweight, to have preeclampsia and/or hemolysis, elevated liver enzymes, low platelet count (HELLP), to have undergone labor induction, to have delivered by cesarean delivery, and to have received obstetric interventions such as magnesium prophylaxis for fetal neuroprotection, antenatal corticosteroids for fetal lung maturity, and antibiotics prior to delivery; they were less likely to have been diagnosed with a clinical abruption. Neuraxial analgesia was associated with decreased incidence of cord umbilical artery pH less than 7.0 (24.7 vs. 34.9%, p  = 0.03), as well as decreased incidence of neonatal intensive care unit length of stay over 60 days (35.5 vs. 48.4%, p  = 0.01), although these associations did not persist on multivariable analysis. On multivariable analyses, neuraxial analgesia remained independently associated with decreased odds of necrotizing enterocolitis (adjusted odds ratio [aOR]: 0.28, 95% confidence interval [CI]: 0.12-0.62) and grade III/IV intraventricular hemorrhage (aOR: 0.33, 95% CI: 0.13-0.87). These associations remained significant on sensitivity analyses, which were performed between 10 and 90% of the overall cohort in order to control for outliers, as well as between the subgroup of patients who received obstetric interventions. Conclusions  Maternal neuraxial analgesia use may be associated with lower odds of adverse outcomes in very preterm infants, even after controlling for existing interventions for prematurity. Prior work has suggested such effects may be due to improved neonatal acid-base status from changes in placental perfusion and m

Complete hydatidiform mole with coexisting fetus (CHMCF) is rare, and diagnosis is challenging due to limited data. Here, we present the case of a patient with noninvasive prenatal test (NIPT) resulting in "likely molar pregnancy" in the second trimester. Subsequent ultrasound confirmed a cystic appearing portion of the placenta. At 22 weeks, the patient delivered a demised fetus and two placentas. Pathology was consistent with CHMCF. This case is the first to show primary detection of a CHMCF with single-nucleotide polymorphism (SNP)-based NIPT prior to ultrasound identification. Our case suggests the use of SNP-based NIPT as an alternative noninvasive method to guide shared decision-making and clinical management for patients with this diagnosis.

Unilateral lung agenesis is a rare congenital abnormality that typically presents with respiratory distress after birth. Prognostic factors include the side of the lung affected along with the presence or absence of other congenital abnormalities. Prenatal imaging can make the diagnosis that can assist the healthcare team in preparing to care for the neonate, as well as set expectations for the family. In this case series, we describe three cases of unilateral lung agenesis, two infants with right lung agenesis, and one with the left. We describe their presentation, provide a brief clinical course, and discuss outcomes.

Ductus arteriosus aneurysm (DAA) asymptomatically occurs in newborn infants and resolves spontaneously. High-risk DAA with compression, rupture, and thrombosis requires early surgical intervention. Newborn infants have the highest risk of thrombosis among pediatric patients, but the genetic predisposition is difficult to determine in infancy. We herein report a neonatal case of massive thromboses in DAA and pulmonary artery. Desaturation occurred in an active full-term infant 2 days after birth. Echocardiography and contrast-enhanced computed tomography indicated thrombotic occlusion of the DAA and pulmonary artery thrombus. Urgent thrombectomy and ductus resection were successfully performed. After 6 months of anticoagulant therapy, the dissociated low plasma activity levels of protein S from protein C suggested protein S deficiency. A genetic study of PROS1 identified a heterozygous variant of protein S K196E, a low-risk variant of thrombophilia in Japanese populations. There have been seven reported cases with neonatal-onset symptomatic thromboses of DAA involving the pulmonary artery. All survived without recurrence after surgical intervention in five and anticoagulant therapy alone in two. Two newborns had a heterozygous methylenetetrahydrofolate reductase ( MTHFR ) variant, but information on thrombophilia was not available for any other cases. A genetic predisposition may raise the risk of DAA thrombosis, leading to rapid progression.

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. Results  Ten prospective studies included 1,248 SSA/SSB-positive pregnancies with 24 cases of CHB diagnosed during pregnancy (1.9%). Among these, three (12.5%) were after 24 weeks-at weeks 25, 26, and 28. Our retrospective studies revealed 50 patients with CHB diagnosis in late fetal life and neonatal period and 34 in the nonneonatal childhood period. An additional four cases were diagnosed after age 18 years. 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.