Acute pulmonary edema in an obstetric intensive care unit: A case series study.

Acute pulmonary edema (PE) affects 0.08% to 1.5% of women during pregnancy and in the postpartum. At the Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), acute PE accounts for 1.5% of admissions to the obstetric intensive care unit (ICU) and occurs in 9.3% of the patients admitted with near miss criteria. This study was conducted to describe the clinical/epidemiological profile of patients with acute PE in IMIP's obstetric ICU.A case series of 50 patients with acute PE in an obstetric ICU in northeastern Brazil between August 2012 and March 2015. Frequency distribution and measures of central tendency/dispersion were calculated using Epi Info, version 7.1.5.The mean age of the women was 27.2 years; 60% were from Recife; 50% had 8 to 11 years of schooling; 54.0% were primigravidas. Acute PE occurred antepartum (58%), postpartum (38%), or intrapartum (4.0%). Overall, 8% had had previous episodes; 6% relapsed during hospitalization; 4% died. Caesarean sections were common (78.0%), with 73.3% delivering at <37 weeks and 39.0% at <34 weeks. Etiologies were hypertensive (62%), cardiogenic (16.0%), both hypertensive and cardiogenic (20.0%) or due to fluid overload (2.0%). Irrespective of etiology, in the 24 hours preceding acute PE, fluid overload was present in 34.0%. Median time from diagnosis until resuscitation maneuvers was 5 minutes (within 30 minutes of diagnosis in 75.0% of patients). Mean ICU time was 5 days and mean hospitalization time 11 days.Acute PE is a severe disease resulting in high maternal/perinatal morbidity/mortality rates. Most commonly, it occurred antepartum and associated with hypertension. Fluid overload appears to constitute an important trigger.

Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.

Conventional karyotyping detects anomalies in 3-15% of patients with multiple congenital anomalies and mental retardation (MCA/MR). Whole-genome array screening (WGAS) has been consistently suggested as the first choice diagnostic test for this group of patients, but it is very costly for large-scale use in developing countries. We evaluated the use of a combination of Multiplex Ligation-dependent Probe Amplification (MLPA) kits to increase the detection rate of chromosomal abnormalities in MCA/MR patients. We screened 261 MCA/MR patients with two subtelomeric and one microdeletion kits. This would theoretically detect up to 70% of all submicroscopic abnormalities. Additionally we scored the de Vries score for 209 patients in an effort to find a suitable cut-off for MLPA screening. Our results reveal that chromosomal abnormalities were present in 87 (33.3%) patients, but only 57 (21.8%) were considered causative. Karyotyping detected 15 abnormalities (6.9%), while MLPA identified 54 (20.7%). Our combined MLPA screening raised the total detection number of pathogenic imbalances more than three times when compared to conventional karyotyping. We also show that using the de Vries score as a cut-off for this screening would only be suitable under financial restrictions. A decision analytic model was constructed with three possible strategies: karyotype, karyotype + MLPA and karyotype + WGAS. Karyotype + MLPA strategy detected anomalies in 19.8% of cases which account for 76.45% of the expected yield for karyotype + WGAS. Incremental Cost Effectiveness Ratio (ICER) of MLPA is three times lower than that of WGAS, which means that, for the same costs, we have three additional diagnoses with MLPA but only one with WGAS. We list all causative alterations found, including rare findings, such as reciprocal duplications of regions deleted in Sotos and Williams-Beuren syndromes. We also describe imbalances that were considered polymorphisms or rare variants, such as the new SNP that confounded the analysis of the 22q13.3 deletion syndrome.