Fetal and Pediatric Pathology最新文献

Background: Accurate identification of fetal growth restriction in fetal autopsy is critical for assessing causes of death. We examined the impact of using a chart derived from ultrasound measurements of healthy fetuses (World Health Organization fetal growth chart) versus a chart commonly used by pathologists (Archie et al.) derived from fetal autopsy-based populations in diagnosing small-for-gestational-age (SGA) birth in perinatal deaths. Study Design: We examined perinatal deaths that underwent autopsy at BC Women's Hospital, 2015-2021. Weight centiles were assigned using the ultrasound-based fetal growth chart for birthweight and autopsy-based growth chart for autopsy weight. Results: Among 352 fetuses, 30% were SGA based on the ultrasound-based fetal growth chart versus 17% using the autopsy-based growth chart (p < 0.001). Weight centiles were lower when using the ultrasound-based versus autopsy-based growth chart (median difference of 9 centiles [IQR 2, 20]). Conclusions: Autopsy-based growth charts may under-classify SGA status compared to ultrasound-based fetal growth charts.

Background/objective: Neonatal skin conditions are typically diagnosed through noninvasive methods. Few studies describe the spectrum of biopsy- evaluated neonatal skin lesions. We present our institutional experience with the conditions leading to skin biopsies in neonates. The objective is to describe the conditions for which skin biopsies are performed in neonatal patients.

Methods: There were 20 neonatal skin biopsies over a 10-year period from the hospital's delivery unit, NICU, and pediatric hospital. Biopsies were categorized as inflammatory (not caused by an infectious agent), congenital, neoplastic, infectious, and vascular conditions.

Results: The patients' ages ranged from 1 day to 4 weeks, with a male predominance. There were 6 inflammatory, 7 congenital, 5 neoplastic, 1 infectious, and 1 vascular lesions.

Conclusions: The most frequent neonatal skin biopsy lesions were inflammatory or congenital lesions. This review described the types of neonatal dermatopathology specimens that we encountered in practice.

Introduction: 46,XX testicular disorder of sexual development (DSD) may present prenatally as a mismatch between phenotype and karyotype. Enlarged nuchal translucency is an abnormal sign of many disorders. We present a first trimester fetus with increased nuchal translucency that was later determined to be a 46,XX testicular DSD.

Case presentation: A first-trimester pregnancy ultrasound revealed enlarged nuchal translucency. Chorionic villous sampling documented a 46,XX karyotype. Subsequent ultrasounds identified male external genitalia. FISH analysis documented a SRY gene translocation. At birth, the infant had normal male internal and external genitalia.

Conclusions: 46,XX testicular DSD may present in the first trimester with an enlarged nuchal translucency.

Introduction: Trisomy 4p is a lethal chromosomal disorder, resulting from segmental or full trisomy of the short arm of chromosome 4. Prenatal diagnosis may allow decisions on whether to continue or terminate the pregnancy. Case report: We diagnosed a fetus with partial trisomy 4p after first-trimester ultrasound detection of increased nuchal translucency, allowing the parents the opportunity to terminate the pregnancy. The partial trisomy 4p was inherited from a balanced translocation carried by the father. Discussion/Conclusion: For this family, the risk of unbalanced chromosomal alterations in subsequent pregnancies is increased due to the father's translocation. Appropriate genetic counseling with future prenatal diagnosis through amniocentesis can be offered to the couple. Trisomy 4p can be associated with increased nuchal thickness in the first trimester.

Background: Testicular mixed germ cell tumor is common in the post-pubertal age, less so in prepuberty. There are only 3 reports of prepubertal mixed teratoma and yolk sac tumor. Two of these cases had immature teratoma component and were in the neonatal age group. The third case in a toddler had a mature teratoma component.

Case report: An 18-month-old boy presented with a testicular mass. Serum AFP was elevated (2200 ng/ml). The orchidectomy specimen contained a yolk-sac tumor and a small epidermoid cyst, indicating a mature teratomatous component.

Conclusion: We report a testicular mixed teratoma and yolk sac tumor, prepubertal type along with summary of prior published cases. There is only one report describing this combination of mature teratoma with yolk sac tumor in the prepubertal testis.

Objective: Afamin is a protein that increases in gestational diabetes but its concentration in neonates hasn't been investigated. Our objective is to compare cord blood afamin levels in neonates born to mothers with and without diabetes, and to explore its relationship with maternal and neonatal variables.

Methods: In this case control study, umbilical cord blood was collected for afamin measurement in pregestational/gestational diabetic pregnancies (n = 40) and healthy pregnancies (n = 45) after delivery. Correlation analysis was conducted to examine the relationship between afamin levels and maternal BMI, age, HbA1c, fasting and postprandial blood glucose, gestational age, birth weight.

Results: The diabetic group had a higher median afamin level (p < 0.001). Afamin concentrations did not differ significantly between diabetic subgroups. The concentration of afamin in cord blood was independent of maternal BMI, age, HbA1c, blood glucose, gestational age, birth weight.

Conclusion: The concentration of afamin in cord blood of diabetic pregnancies is significantly higher, irrespective of other clinical factors.