Pregnancy management of IVF-ET pregnancies in a patient with classical 21-hydroxylase deficiency: A case report and review of the literature.

OBJECTIVE: To report a rare case of a woman with classical 21-hydroxylase deficiency who twice had singleton pregnancies with live births after in vitro fertilization and embryo transfer (IVF-ET). DESIGN: Case report and literature review. PATIENT: A 35-year-old woman with classical 21-hydroxylase deficiency underwent external genital plastic surgery during adolescence and achieved second pregnancy after IVF-ET with long-term glucocorticoid replacement therapy. METHODS: During regular antenatal testing, we focus on monitoring patients' weight gain, blood pressure, increasing trend of uterine height and abdominal circumference, and fetal growth trend. Individualized glucocorticoid therapy during pregnancy, glucocorticoid stress dose at delivery, management of systemic metabolism to prevent maternal and infant complications, and newborn screening are realized. RESULT: In the second pregnancy, the glucocorticoid dosage was not increased. 17-hydroxyprogesterone and testosterone tended to increase in late pregnancy, but they were lower than in the first pregnancy. Blood pressure and blood glucose were normal, but lipids were abnormally elevated, D-dimer also showed a sharp rise under labor stress. A mature male infant was delivered by cesarean at 33+4 weeks of gestation due to placental abruption. CONCLUSION: Repeated pregnancies in patients with classical 21-hydroxylase deficiency are rare, especially with Assisted Reproductive Technology. We present a case including a comparison of her two pregnancy monitoring indicators, glucocorticoid medication and delivery to achieve a successful delivery. We review the available literature to analyze pregnancies with classical 21-hydroxylase deficiency.

Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory.

BACKGROUND: A growing number of cytogenetic techniques have been used for prenatal diagnosis. This study aimed to demonstrate the usefulness of karyotyping, BACs-on-Beads (BoBs) assay and single nucleotide polymorphism (SNP) array in prenatal diagnosis during the second trimester based on our laboratory experience. METHODS: A total of 10,580 pregnant women with a variety of indications for amniocentesis were enrolled in this retrospective study between January 2015 and December 2020, of whom amniotic fluid samples were analysed in 10,320 women. The main technical indicators of participants in the three different technologies were summarized, and cases of chromosome abnormalities were further evaluated. RESULTS: The overall abnormality detection rate of karyotyping among all the amniotic fluid samples was 15.4%, and trisomy 21 was the most common abnormality (20.9%). The total abnormality detection rate of the BoBs assay was 5.6%, and the diagnosis rate of microdeletion/microduplication syndromes that were not identified by karyotyping was 0.2%. The detection results of the BoBs assay were 100.0% concordant with karyotyping analysis in common aneuploidies. Seventy (87.5%) cases of structural abnormalities were missed by BoBs assay. The total abnormality detection rate of the SNP array was 21.6%. The detection results of common aneuploidies were exactly the same between SNP array and karyotyping. Overall, 60.1% of structural abnormalities were missed by SNP array. The further detection rate of pathogenic significant copy number variations (CNVs) by SNP was 1.4%. CONCLUSIONS: Karyotyping analysis combined with BoBs assay or SNP array for prenatal diagnosis could provide quick and accurate results. Combined use of the technologies, especially with SNP array, improved the diagnostic yield and interpretation of the results, which contributes to genetic counselling. BoBs assay or SNP array could be a useful supplement to karyotyping.

Ovarian growing teratoma syndrome with multiple metastases in the abdominal cavity and liver: A case report.

BACKGROUND: Growing teratoma syndrome (GTS) is an unusual presentation of an amazing transformation of teratoma from malignant to benign on pathology during or after systemic or intraperitoneal chemotherapy. The definitive pathogenesis is still not fully understood due to the lack of large-sample studies. CASE SUMMARY: A 53-year-old woman underwent radical surgery and postoperative intraperitoneal chemotherapy due to immature teratoma of the right ovary at the age of 28. She remained well during a 25-year follow-up period after surgery. Multiple asymptomatic solid masses were found in the liver on ultrasonography a month ago. Enhanced computed tomography (CT) of the abdomen revealed multiple masses in the abdominal cavity. The largest one was located in the posterior peritoneum next to the sixth segment of the right liver, about 7.9 cm × 7.5 cm in size. Three masses were present inside the liver, and one mass was in the right pelvic floor. Multiple lumps in the abdominal cavity were completely removed by surgery. During the operation, multiple space-occupying lesions were seen, ranging in size from 0.5 to 3 cm, and grayish white in color and hard in texture. Ovarian GTS was finally diagnosed based on postoperative pathology. After surgery, she recovered uneventfully. During a 3-year follow-up, the patient remained free of the disease without any recurrence on CT scan. CONCLUSION: GTS is a rare phenomenon characterized by conversion of immature teratoma to mature one during or after chemotherapy and presents as growing and metastasizing masses. The pathogenesis of GTS is unclear, and the prognosis is good after surgical resection.

DNA methylation and expression profiles of placenta and umbilical cord blood reveal the characteristics of gestational diabetes mellitus patients and offspring.

BACKGROUND: Gestational diabetes mellitus (GDM) is a common pregnancy-specific disease and is growing at an alarming rate worldwide, which can negatively affect the health of pregnant women and fetuses. However, most studies are limited to one tissue, placenta or umbilical cord blood, usually with one omics assay. It is thus difficult to systematically reveal the molecular mechanism of GDM and the key influencing factors on pregnant women and offspring. RESULTS: We recruited a group of 21 pregnant women with GDM and 20 controls without GDM. For each pregnant woman, reduced representation bisulfite sequencing and RNA-seq were performed using the placenta and paired neonatal umbilical cord blood specimens. Differentially methylated regions (DMRs) and differentially expressed genes (DEGs) were identified with body mass index as a covariate. Through the comparison of GDM and control samples, 2779 and 141 DMRs, 1442 and 488 DEGs were identified from placenta and umbilical cord blood, respectively. Functional enrichment analysis showed that the placenta methylation and expression profiles of GDM women mirrored the molecular characteristics of "type II diabetes" and "insulin resistance." Methylation-altered genes in umbilical cord blood were associated with pathways "type II diabetes" and "cholesterol metabolism." Remarkably, both DMRs and DEGs illustrated significant overlaps among placenta and umbilical cord blood samples. The overlapping DMRs were associated with "cholesterol metabolism." The top-ranking pathways enriched in the shared DEGs include "growth hormone synthesis, secretion and action" and "type II diabetes mellitus." CONCLUSIONS: Our research demonstrated the epigenetic and transcriptomic alternations of GDM women and offspring. Our findings emphasized the importance of epigenetic modifications in the communication between pregnant women with GDM and offspring, and provided a reference for the prevention, control, treatment, and intervention of perinatal deleterious events of GDM and neonatal complications.