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Adherence to antiretroviral therapy is essential during pregnancy to avoid vertical HIV transmission. However, pregnancy and postpartum could influence perceptions of quality of life among women living with HIV/AIDS, modifying their adherence to therapy. Here, we estimate the association of quality of life with sociodemographic, clinical and related sexuality variables of HIV-infected women on antiretroviral treatment during postpartum. A cross-sectional study was conducted in a tertiary care institution in Mexico City from April 2020 to September 2022, to evaluate the quality of life of 75 HIV-infected women who received antiretroviral therapy during postpartum with the WHOQOL-VIH-BREF instrument. Sociodemographic, clinical, and sexual variables were obtained from their clinical records. The total quality of life score was intermediate (15). The physical health and independence domains received the highest scores (16). The domains of psychological health, environment and personal beliefs obtained the lowest scores (14). There was a significant correlation between four out of six domains with the CD4+ account. Other variables also obtained a significant correlation with at least one of the domain scores. Despite poverty, stigma, and discrimination, this group of HIV-infected women obtained an intermediate total quality of life. An acceptable CD4+ count is associated with a good quality of life and could be a relevant marker for antiretroviral adherence. [ABSTRACT FROM AUTHOR]

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Unlabelled: Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. OBJECTIVE. To present a family with two half siblings with a severe phenotype of Adams Oliver syndrome in which the mother was healthy., Case Report: A 27 year-old woman was referred to the Genetics Department. Her previous girl presented acrania, constriction rings and terminal transverse limb defects. The present girl had occipital encephalocele, large scalp defects, aplasia cutis congenita, terminal transverse limb defects and bilateral cleft lip and palate. Autosomal dominant inheritance with reduced penetrance or gonadal mosaicism has to be considered in Adams Oliver syndrome with severe intracranial anomalies.

Background: Invasive prenatal diagnosis (IPD) allows identification of fetal diseases, mainly aneuploidy. With the addition of first-trimester prenatal screening and structural ultrasound, IPD indications have changed., Objective: To describe the current indications for IPD in pregnant patients at INPer., Methods: Descriptive and retrospective study. We reviewed medical records of patients in which IPD was performed during a period of 2.5 years., Results: A total of 339 studies were performed: 81% by amniocentesis (AC), 13% by chorionic villus sampling (CVS) and 6% by cordocentesis or somatocentesis. The most common indications for AC were: advanced maternal age (AMA) (43%), fetuses with multiple defects by ultrasonido (23%) and presence of soft markers for aneuploidies (9%). For CVS were: cystic hygroma (24%). Increased nuchal translucency (NT) (24%), and AMA (18%). When the indication was only AMA, 1.5% of fetus presented aneuploidy. In women under 38 years and normal ultrasoud, chromosomal abnormalities were not detected. The increased NT in women <35 years had a 21% detection and in patients > 35 years it increased to 33%., Conclusions: We observed that the group who had normal translucencia nucal and AMA presented a low risk of chromosomal abnormalities. In the presence of an increased NT, 33% of fetuses were affected, so that measuring TN is considered the best non invasive PD tool. The average age with cytogenetic abnormalities was above 38 years, so we suggest to offer IPD in women above 38 years-old.