Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.

Background: In pregnant women at risk of autosomal recessive (AR) disorders, prenatal diagnosis of AR disorders primarily involves invasive procedures, such as chorionic villus sampling and amniocentesis. Methods: We collected blood samples from four pregnant women in their first trimester who presented a risk of having a child with an AR disorder. Cell-free DNA (cfDNA) was extracted, amplified, and double-purified to reduce maternal DNA interference. Additionally, whole-genome amplification was performed for traces of residual purified cfDNA for utilization in subsequent applications. Results: Based on our findings, we detected the fetal status with the family corresponding different genes, i.e., LZTR1, DVL2, HBB, RNASEH2B, and MYO7A, as homozygous affected, wild-type, and heterozygous carriers, respectively. Results were subsequently confirmed by prenatal amniocentesis. The results of AmpFLSTR™ Identifiler™ presented a distinct profile from the corresponding mother profile, thereby corroborating the result reflecting the genetic material of the fetus. Conclusion: Herein, we detected AR disease mutations in the first trimester of pregnancy while surmounting limitations associated with maternal genetic material interference. Importantly, such detection strategies would allow the screening of pregnant women for common AR diseases, especially in highly consanguineous marriage populations. This technique would open avenues for the early detection and prevention of recessive diseases among the population.

Framework for obstetrics and gynecology department change management in response to COVID-19 pandemic: A tertiary center experience.

Coronavirus (cov) disease 2019 pandemic caused by severe acute respiratory syndrome cov 2 has imposed significant demands on healthcare systems across the world. These demands were more significant on obstetrics and gynecology (obgyn) patients, who required services that had to continue despite the closure of other services. This paper describes the change management of an obgyn department at a tertiary health-care center. That experience resulted in a complete management shift in the institution and the formation of an infectious disease epidemic plan for respiratory infections. Description of the change management performed, difficulties encountered, and achievements obtained can assist other departments change management when they face similar situations.