Clinical pharmacology and pharmacogenomics for implementation of personalized medicine.

With the aim of integrating clinical pharmacology with pharmacogenomics and providing a platform to gather clinicians, academicians, diagnostic laboratory personnel and scientists from related domains, the International Conference on Clinical Pharmacology and Pharmacogenomics 2023 (ICCPP 2023) was jointly organized by the Department of Pharmacology, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, India and the CANSEARCH research platform in Pediatric Oncology and Hematology, University of Geneva, Geneva, Switzerland. The conference was held on 31 August and 1 September 2023, as a continued Indo-Swiss scientific exchange event series. In this report we describe the proceedings of this conference for the benefit of peers who could not attend the conference but are interested in knowing about the scientific program in detail.

Cell-free DNA screening for trisomy 21 in twin pregnancy: a large multicenter cohort study.

Background: Analysis of cell-free DNA from maternal blood provides effective screening for trisomy 21 in singleton pregnancies. Data on cell-free DNA screening in twin gestations are promising although limited. In previous twin studies, cell-free DNA screening was primarily performed in the second trimester and many studies did not report chorionicity.

The spectrum of indomethacin-responsive headaches in children and adolescents.

Background: Headaches with marked, specific response to indomethacin occur in children, but the phenotypic spectrum of this phenomenon has not been well-studied.

Methods: We reviewed pediatric patients with headache showing ≥80% improvement with indomethacin, from seven academic medical centers.

Results: We included 32 pediatric patients (16 females).

Risk Factors for Measles Nonimmunity in Rubella-Immune Pregnant Patients.

Objective: Measles immunity testing, unlike that for rubella, is not currently part of prenatal screening even though immunity to both is conferred by the measles-mumps-rubella (MMR) vaccine. Although endemic transmission of measles was declared eliminated in the United States in 2001, outbreaks have continued to occur. Given the risks associated with measles infection during pregnancy, we sought to identify risk factors for measles nonimmunity (MNI) in rubella-immune (RI) pregnant individuals.

Neutralizing Monoclonal Antibodies for Coronavirus Disease 2019 (COVID-19) in Pregnancy: A Case Series.

Objective: To describe outcomes associated with monoclonal antibody use in pregnant persons with mild-to-moderate coronavirus disease 2019 (COVID-19).

Methods: We present a retrospective case series of pregnant patients who received anti-severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) monoclonal antibody infusions at a single center from April 1, 2021, through October 16, 2021. Pregnant patients who had a positive SARS-CoV-2 polymerase chain reaction (PCR) test result and mild-to-moderate COVID-19 symptoms were eligible for monoclonal antibody infusion.

Predicting Adverse Outcomes in Monochorionic-Diamniotic Twins: The Role of Intertwin Discrepancy in Middle Cerebral Artery Doppler Measurements and the Cerebroplacental Ratio.

Objective: This study was aimed to evaluate the role of intertwin discrepancy in middle cerebral artery peak systolic velocity (MCA-PSV) and cerebroplacental ratio (CPR) for the prediction of adverse outcomes in monochorionic-diamniotic (MCDA) twin pregnancies.

Study Design: A retrospective cohort study of MCDA pregnancies that underwent ultrasound surveillance at a perinatal referral center from 2007 to 2017. Intertwin MCA-PSV discrepancy (MCA-Δ) was defined as the absolute difference of MCA-PSV multiple of the median (MoM) for gestational age between twins.

Vaginal birth after cesarean: Does accuracy of predicted success change from prenatal intake to admission?

Background: There are 2 prediction nomograms for vaginal birth after cesarean delivery. The first is based on variables that are available at the first prenatal visit, and the second includes variables at the time of admission.

Objective: The purpose of this study was to compare the accuracy of prediction scores that are calculated by the intake and admission prediction nomograms in a modern cohort of racially and ethnically diverse women.

Clinical accuracy of abnormal cell-free fetal DNA results for the sex chromosomes.

Objective: To investigate factors associated with abnormal cell-free DNA (cfDNA) results for sex chromosomes (SCs).

Study Design: This is a retrospective cohort study of abnormal cfDNA results for SC at a referral practice from March 2013 to July 2015. Cell-free DNA results were abnormal if they were positive for SC aneuploidy (SCA), inconclusive, or discordant with ultrasound (US) findings.

The value of the first trimester ultrasound in the era of cell free DNA screening.

Objective: To describe the clinically relevant findings detected by the first trimester ultrasound (FTU) and to determine the additional value of the FTU compared to cell free DNA (cfDNA) alone.

Method: Retrospective cohort study of patients undergoing a FTU at a maternal-fetal medicine referral practice. Fetal, gynecologic, and placental findings detected by ultrasound were analyzed with available cfDNA and diagnostic testing results.

Cell-free DNA screening in clinical practice: abnormal autosomal aneuploidy and microdeletion results.

Background: Since its commercial release in 2011 cell-free DNA screening has been rapidly adopted as a routine prenatal genetic test. However, little is known about its performance in actual clinical practice.

Objective: We sought to investigate factors associated with the accuracy of abnormal autosomal cell-free DNA results.