Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy.

Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy.

First trimester ultrasound prediction of velamentous cord insertions: a prospective study.

Introduction: The marginal and velamentous cord insertions complicate around 8% of pregnancies and are at higher risk of adverse perinatal outcomes. Their visualisation seems to decrease with advancing gestational age. Our aim was to analyse whether an umbilical cord insertion in the lower third of the uterus during the first trimester could predict abnormal cord insertions later in pregnancy.

Unusual association of brain hemorrhage and digestive tract occlusion: about two prenatal cases.

We report two prenatal cases of an exceptional association of digestive tract atresia or perforation with brain hemorrhage. This combination worsens the prognosis leading to termination of pregnancy in one case. We outline the importance of a careful fetal brain examination on imaging in cases of prenatal "acute" abdominal insults.

Functional Exhaustion Limits CD4+ and CD8+ T-Cell Responses to Congenital Cytomegalovirus Infection.

Background: Cytomegalovirus (CMV) infection during fetal life causes severe symptoms and is associated with prolonged viral excretion. Previous studies reported low CD4(+) T-cell responses to CMV infection in early life, contrasting with large responses of effector CD8(+) T cells. The mechanisms underlying the defective CD4(+) T-cell responses and the possible dissociation with CD8(+) T-cell responses have not been clarified.

Evidence of human papillomavirus in the placenta.

Human papillomavirus (HPV) is an epitheliotropic virus typically infecting keratinocytes but also possibly epithelial trophoblastic placental cells. In the present study, we set out to investigate whether HPV can be recovered from transabdominally obtained placental cells to avoid any confounding contamination by HPV-infected cervical cells. Thirty-five placental samples from women undergoing transabdominal chorionic villous sampling were analyzed, and we detected HPV-16 and HPV-62 in 2 placentas.

Human cytomegalovirus elicits fetal gammadelta T cell responses in utero.

The fetus and infant are highly susceptible to viral infections. Several viruses, including human cytomegalovirus (CMV), cause more severe disease in early life compared with later life. It is generally accepted that this is a result of the immaturity of the immune system.