Faculty Bibliography

OBJECTIVE:Recent guidelines suggest that non-invasive prenatal screening (NIPS) should be offered to all patients with singleton and twin pregnancies. Accurate determination of fetal fraction in cell-free DNA (cfDNA) is vital for reliable NIPS outcomes. We propose a methylation-based approach using droplet digital PCR (ddPCR) and methylation-sensitive restriction enzyme (MSRE) digestion for fetal fraction quantification as an affordable and fast solution. METHOD/METHODS:Following biomarker discovery using early pregnancy placental genomic DNA (gDNA) and cfDNA from non-pregnant female individuals, we designed assays targeting MSRE-compatible regions based on contrasting methylation patterns between maternal and fetal cfDNA. We established a proof-of-concept ddPCR workflow on the Bio-Rad Droplet Digital PCR QX600 instrument. RESULTS:Testing the fetal fraction assay multiplex on 137 prospective clinical samples demonstrated high concordance with NGS results for both female and male pregnancies as well as with chromosome Y-based calculations for samples with a male fetus. Reproducibility analysis indicated lower variability compared to previously reported NGS performance. CONCLUSION/CONCLUSIONS:This study showcases the potential of this novel, 6-color, high-multiplex methylation ddPCR panel for accurate measurement of fetal fraction in cfDNA samples. It presents opportunities to integrate such methodology as a standalone measurement to assess the quality of samples undergoing NIPS.

This comprehensive review examines the effects of various infections on pregnancy, focusing on maternal symptoms, fetal outcomes, diagnostic methods, and placental pathology. The paper covers bacterial, viral, and parasitic infections, their mechanisms of transmission, clinical presentations, and histopathologic findings in the placenta. It emphasizes the importance of early detection and intervention, highlighting the challenges in diagnosis due to often asymptomatic presentations. The review also discusses the placenta's role as a protective barrier and its immune defense mechanisms against pathogens. Overall, this paper serves as a comprehensive resource for understanding the complex interplay between maternal infections, placental pathology, and fetal outcomes.

OBJECTIVE: This study aimed to investigate if retroverted (RV) uterus noted on nuchal translucency (NT) ultrasound is associated with second-trimester pregnancy loss and other adverse pregnancy outcomes. STUDY DESIGN/METHODS:-value <0.05 denoting significance. Multivariable logistic regression was used to adjust for possible confounding variables. RESULTS: = 0.0056). No other differences in adverse outcomes were observed. CONCLUSION/CONCLUSIONS: Persistent RV uterus in the first trimester is associated with increased risk of first-trimester vaginal bleeding. However, rates of pregnancy loss were similar between groups, providing valuable information for patient counseling. Significantly more RV subjects conceived by IVF, highlighting the need for further study in this population. KEY POINTS/CONCLUSIONS:· Pregnancy outcomes of patients with retroverted uterus have not been widely studied.. · Significantly more patients with a retroverted uterus conceived by in vitro fertilization.. · Patients with retroverted uterus were four times more likely to have first-trimester bleeding.. · Despite increased rates of vaginal bleeding, there was no increased rate of pregnancy loss..

BACKGROUND:'Incarcerated gravid uterus' is a morbid complication that occurs in 1 in 3000 pregnancies. It is characterized by failure of a retropositioned uterus to become an abdominal organ between 12 to 14 weeks of gestation. If maternal symptoms develop or gestational age surpasses 14 to 16 weeks, replacement of a retropositioned uterus is recommended to reduce adverse outcomes. Previously described techniques for management include passive reduction, digital replacement, or more invasive methods such as laparoscopy, laparotomy, or sigmoidoscopy. These methods are either minimally effective, painful, or risky. OBJECTIVE:The objective of this report is to describe our clinical experience with a new minimally invasive technique that uses the transvaginal ultrasound probe for uterine replacement in cases of incarceration, to conduct a narrative literature review on 'incarcerated gravid uterus,' and to propose an algorithm for management of this condition. STUDY DESIGN/METHODS:This is a case series of 8 patients with an incarcerated gravid uterus who were managed with the transvaginal ultrasound probe technique at one academic medical institution between March 2020 and July 2023, as well as a narrative review of the literature on 'incarcerated gravid uterus.' PubMed, Google Scholar, and Ovid MEDLINE databases were searched for the terms "incarcerated gravid uterus," "uterine incarceration," "uterine sacculation," and "retroverted uterus" up to April 2024. RESULTS:The transvaginal ultrasound probe technique resulted in successful uterine replacement, with resolution of symptoms, in all 8 patients. All pregnancies resulted in live births with good neonatal outcomes-7 out of 8 patients delivered at term, and 1 delivered in the late preterm period. CONCLUSION/CONCLUSIONS:Our proposed technique for treatment of an incarcerated gravid uterus with the transvaginal ultrasound probe is simple, minimally invasive and effective. Based on our experience and the narrative literature review, an algorithm for the management of an incarcerated gravid uterus is proposed.