1.
GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification.
Jezela-Stanek, A, Siejka, A, Kowalska, EM, Hosiawa, V, Krajewska-Walasek, M
Ginekologia polska. 2020;(5):287-293
Abstract
Rare multiple congenital malformations/developmental disorders are challenging in clinical diagnosis. The introduction of next-generation sequencing (NGS) has revolutionized this diagnostic by offering multigene panels or whole-exome sequencing. However, if there is no possibility to perform NGS or if we are facing prenatal ultrasound results, clinical diagnostics is even more difficult. For a selected group of congenital metabolic disorders, resulting from defects in cholesterol biosynthesis (called cholesterolopathies), application of gas chromatography-mass spectrometry (GS-MS) may provide or orientate diagnostics. The most common of these is Smith-Lemli-Opitz syndrome (SLOS), but in this publication, we also want to introduce other cholesterolopathies and draw attention to the possibility of non-invasive prenatal diagnosis of SLOS.
2.
[Pregnancy after Obesity and Metabolic Surgery - Risks and Complications].
Stroh, C, Groten, T, Schleussner, E, Manger, T
Zentralblatt fur Chirurgie. 2018;(4):419-424
Abstract
The increasing prevalence of morbid obesity in Germany is associated with an increasing number of metabolic surgical interventions. Short-term surgical and long-term metabolic complications - such as nutrient deficiencies - are the main risks of metabolic surgery and the resulting malabsorption. Obesity, especially morbid obesity, is associated with a high incidence of female infertility. One important cause of female infertility in obese women is the polycystic ovary syndrome, with 6 - 10%. Metabolic surgery significantly increases the fertility of obese women. The positive effect of obesity surgery on weight loss, remission of comorbidities, psychological outcome and fertility (in comparison with the effect of conservative treatment) has led to an increase in the number of metabolic operations. Nutrient deficiencies after restrictive, combined and malabsorptive procedures must be considered. Prophylaxis of these deficiencies during pregnancy after obesity surgery must be based on intensive interdisciplinary treatment. The aim of this overview is to characterise the metabolic complications and their prophylaxis, which are specific for the various bariatric procedures and which, subsequently, require temporary or permanent surveillance and supplementation.