RESUMO
Cri-du-chat syndrome (CdCS) is a rare genetic disorder in which the short arm of chromosome 5 is deleted. This report aims to highlight a rare association with the syndrome. We present a preterm male delivered at 35 weeks gestation with an antenatal diagnosis of meningomyelocele. The patient's clinical examination revealed ruptured lumbosacral meningomyelocele, lower limb hypotonia, and hyporeflexia. The patient also displayed dysmorphic features, including microcephaly, a rounded face, low-set ears, and club feet. In addition, he is noted to have a high-pitched cry. Diagnosis of Chiari tonsil hernia type II was made by magnetic resonance imaging, and whole exome sequencing has confirmed CdCS. The spina bifida was surgically corrected, and the patient has since been cared for by a multidisciplinary team. The patient's short-term follow-up revealed a significant developmental delay. Few cases of CdCS associated with meningomyelocele have been reported. More evidence is needed to support a relevant association between CdCS and meningomyelocele.
RESUMO
BACKGROUND: Childbirth is a normal life event that is considered to have the most severe pain faced by women in their lifetime. However, this pain can be managed in many ways such as using epidural analgesia (EDA). Objective: This study focuses on assessing the awareness, perceptions, and desirability of EDA among pregnant women at King Fahad University Hospital (KFUH), Al Khobar. METHODS: A cross-sectional study was conducted at KFUH in Al Khobar, Eastern Province of Saudi Arabia. The study took place from November to December 2020 by using a pre-designed questionnaire developed by the researchers based on a thorough literature review of prior studies. A total of 209 pregnant females participated in the study. The study included all pregnant women attending antenatal clinics and the emergency room at KFUH and we excluded postpartum women from the study. RESULTS: A total of 209 pregnant women participated in this two-month study and completed the questionnaire. The majority of women were between the age of 30-35 years old (33%), while a few (16%) were less than 24 years. The patient's perception was found to be significantly influenced by age and household income. On the other hand, awareness of EDA complications and desirability was seen to be associated with income. CONCLUSION: Study results demonstrate that the majority of pregnant women were aware, as well as had a positive perception and desirability toward using EDA for labor pain. On the other hand, pregnant women who had a lack of awareness and perception toward EDA may suffer more from labor pain, which will negatively affect their birth experience and may make it less enjoyable. Therefore, education about different types of analgesia, especially EDA, should be included in an antenatal care program.
