Supporting parents who end a pregnancy after a prenatal diagnosis

The UK charity Antenatal Results and Choices supports parents throughout antenatal screening

1169. Revenge of the Syph(ilis): Investigating Congenital Syphilis at a Tertiary Care Center Amidst a Rising Epidemic

Background Congenital syphilis is a chronic infection acquired by the fetus in utero from a mother infected with Treponema palladium. It has a large spectrum of disease manifestations from asymptomatic infection to blindness, abnormal bone and teeth formation, deafness, or even death. Despite antenatal screening and the availability of effective treatment the incidence of congenital syphilis has risen since 2012, with 23.3 cases per 100,000 live births in 2017 according to the Centers for Disease Control. We sought to investigate the epidemiology, clinical manifestations, and treatment outcomes of congenital syphilis. Methods We undertook a retrospective review of individuals born at Texas Children’s Hospital from January 1, 2010 to May 15, 2021 to evaluate compliance with current diagnostic and treatment recommendations. Diagnostic and billing codes for congenital syphilis were used to generate a list of subjects. Patient demographics and clinical details were abstracted from the electronic medical record (EMR). Statistics were performed using Microsoft Excel. Results 107 children (52% male, 48% female) were identified from diagnostic and billing codes in the EMR under the SNOMED-CT diagnosis of “congenital syphilis” and were less than two years of age at the time of diagnosis. All received penicillin within one month of diagnosis. 94 of these had a skeletal x-ray performed, with 11 (12%) having an abnormal skeletal x-ray consistent with congenital syphilis. 88 (82%) had a lumbar puncture done with a quantitative CSF VDRL obtained. 88 received aqueous penicillin G for proven/highly probable or possible syphilis. Four patients were deceased at the time of data inquiry. Of those with abnormal skeletal x-rays, “metaphyseal lucency” was the most common finding. Conclusion Congenital syphilis remains a significant concern in the United States and carries the risk of significant long-term morbidity for infants and children. Antenatal screening with appropriate treatment in pregnancy and adequate follow-up would decrease the need for neonatal evaluation and treatment. Disclosures C. Mary Healy, MD, Dexcom (Shareholder)Intuitive (Shareholder)Quidel Corporation (Shareholder)Up to Date (Other Financial or Material Support, Honorarium)Vapotherm (Shareholder)

Congenital syphilis: Need for intensification of antenatal screening and clinician awareness

Congenital syphilis occurs due to trans-placental transmission of Treponema pallidum or rarely, intrapartum contact with infectious lesions. Even though preventable, congenital syphilis occurs sporadically in India, owing to lack of antenatal screening as well as the lack of awareness among clinicians about the burden of syphilis in the community. Since a significant overlap of clinical manifestations exists with many systemic diseases, awareness among clinicians is crucial for an early diagnosis. Renomegaly, nephrotic syndrome and nephritis can all be the signs of renal involvement in congenital syphilis, which can provide clues of the diagnosis. Direct invasion by spirochetes, hypersensitivity reactions and immune complex deposition in glomeruli contribute to the pathogenesis. We report a case of congenital syphilis characterised by delayed diagnosis with renal as well as cutaneous manifestations from missed maternal syphilis during the antenatal period and owing to the lack of antenatal screening.

The Early Sonographic Prediction of Gestational Diabetes in Women From India

Objective: The purpose of this study was to look for the earliest, cost -effective method that can be added to the routine antenatal screening for identifying patients who might develop gestational diabetes mellitus (GDM) in a proactive manner, as opposed to the current reactive approach of screening and treating GDM, during the second trimester of pregnancy. Materials and Methods: 190 singleton pregnant women in the age group 18-35 years were selected for the study. On these women two step assessment was done. The current project was carried out to utilize sonography as an early, cost-effective method which could be added to routine antenatal screening for identifying patients, at risk for developing GDM. Results: Body mass index was found to have a significant association in those patients with GDM with a P < .001. There was a significant association between subcutaneous adipose tissue (SAT) depth and occurrence of GDM, with a P-value of <.001. Also, in the present study, the occurrence of GDM significantly increased with a rise in visceral adipose tissue (VAT), and there was a significant association between the two, with P < .001. It was noted that there were greater incidences of GDM as VAT depth increased. The existence of GDM greatly increased with a rise in total abdominal tissue (TAT), and there was a significant association between the two, with P < .001 Conclusion: The sonographic measurement of SAT, VAT, and TAT, could be potential marker to identify probable events for the development of GDM, among Asian Indian women who tend to have T2DM, due to differential distribution of fat.

Management of congenital limb deficiency

A broad range of abnormalities can affect the developing human limb. This chapter includes an overview of limb bud development, the mechanisms involved in normal growth, and congenital skeletal deficiencies of the lower limb. The use of ultrasonography in antenatal screening and the clinical and radiological features in childhood are also discussed in addition to management including surgical reconstruction and prosthetic use.

Risk Factors for Hepatitis B Virus Transmission in Oman

Objectives: Hepatitis B virus (HBV) is a major public health problem worldwide. The prevalence of HBV is dependent on the modes of transmission. Chronic hepatitis B (CHB) infection can progress to liver cirrhosis and hepatocellular carcinoma. Oman is regarded as an intermediate endemic region and has had a neonatal vaccine against HBV since 1990. However, little research has been conducted regarding risk factors for HBV transmission. Our study aimed to identify the prevalence of major risk factors for acquiring HBV in Oman. Methods: We conducted a retrospective chart review of all adult Omani patients diagnosed with CHB at two tertiary hospitals in Oman, Sultan Qaboos University Hospital and Armed Forces Hospital, between February 2009 and July 2013. The prevalence of major risk factors was identified by interviewing CHB patients using a standard questionnaire during their follow-up visits to the hepatology clinic at both hospitals. The risk factor frequency was stratified by age, gender, and educational level. Results: A total of 274 patients were interviewed; 52.2% of the participants were males. The median age for men was 35.9 years and 35.1 years for women, with 75.5% aged 20–39 years old. The antenatal screening was the most common means of identifying HBV infection in females, and pre-blood donation screening was the most common in males. Intra-familial contact with HBV infected persons and behavioral risks such as body piercing (females) and barber shaving (males) were more common than nosocomial risk factors. Knowledge about HBV infection was scarce among our participants. More than half of the participants had a positive family history of HBV infection. There was a significant association between HBV infection and age groups, and educational levels (p < 0.050 and p < 0.001, respectively). Among those who were infected due to intrafamilial contact or behavioral risk, there was a significant difference between the two sexes (p < 0.020) and between the three age groups (< 23, 23–28, >28) of HBV positive mothers (33.3%, 14.3%, and 6.6%, respectively; p < 0.050). There was also a statistically significant difference among different educational levels (p < 0.050). Conclusions: Direct contact of infected individuals within a family and exposure to high-risk behaviors such as piercing and barber shaving are the main reported risk factors for HBV infection in Omani patients. Reducing the vertical and horizontal transmission of HBV in Oman could be improved by implementing routine antenatal screening of pregnant women and a greater focus on contact screening, respectively.