The natural history of pregnancies with prenatal diagnosis of Trisomy 18 or Trisomy 13: Retrospective cases of a 23-year experience in a Brazilian public hospital

This study describes the overall outcome in a country where the therapeutic interruption of pregnancy is not available. The medical records of women with prenatal diagnosis of full trisomy of T13 or T18 between October 1994 and October 2017 were analyzed in order to describe their natural outcomes. Thirteen cases of T13 and 29 cases of T18 were included. The miscarriage rate was 9% for T18 and no cases for T13. Intrauterine fetal death occurred in 46% and 52% of cases for T13 and T18, respectively. The rate of live births for T13 was 54%, and the median survival was one day (95% CI -33.55 - 90.40) and 71% died in the first 24 hours of life. The rate of live births for T18 was 37% and the median survival was two days (95% CI -1.89 - 13.17); 90% of the affected babies died within first week of life. For the affected babies reaching the first year of life and for those who lived longer, multiple invasive and expensive procedures were required, without success in prolonging life beyond 180 days. This large series provides information for professionals and women regarding the natural histories of T13 and T18. Results of this study are consistent with those referenced in the literature, emphasizing the need of structured protocols and guidelines aiming early T13 and T18 diagnosis, prenatal care, gestation/parents follow-up, and counseling processes. For those couples with earlier diagnosis, a better follow-up and counseling during the prenatal care lead to the option for a support ...
Source: Genetics and Molecular Biology - Category: Genetics & Stem Cells Source Type: research

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The reluctance to operate on pregnant women is not new and is based on limited and flawed data.1 We fear that the conclusions advanced in the recent publication by Fong and colleagues2 may serve as unjustified support for such delay in surgery, exposing pregnant women to complications.
Source: Journal of the American College of Surgeons - Category: Surgery Authors: Tags: Letter Source Type: research
We thank Tolcher and colleagues for their interest in our study.1 However, we disagree with their position that cholecyststectomy in the third trimester is safe for both the pregnant woman and the baby. In their review article,2 old, uncontrolled, and underpowered studies are quoted to justify their recommendation to proceed with surgery during pregnancy. These same inadequate studies were used to justify current guidelines.3 In comparison, our analysis of nearly 18,000 pregnant women undergoing cholecystectomy in the third trimester or the 90 days after delivery is properly controlled and powered to draw appropriate conclusions.
Source: Journal of the American College of Surgeons - Category: Surgery Authors: Tags: Letter Source Type: research
Publication date: Available online 16 August 2019Source: Social Science &MedicineAuthor(s): Marian KrawczykAbstractHospitals remain the most common location of death in a significant number of countries, and specialist palliative care is positioned as a crucial resource for improving hospital care for those nearing end of life. Little is known, however, about a substantive aspect of this work: how hospital palliative clinicians anticipate and organize a patient's dying trajectory. In this paper I draw from a larger original ethnographic research study of palliative specialists in two Canadian hospitals. Abductive analy...
Source: Social Science and Medicine - Category: Psychiatry & Psychology Source Type: research
Publication date: Available online 16 August 2019Source: European Journal of Obstetrics &Gynecology and Reproductive BiologyAuthor(s): Andrew Sharp, Richard Jackson, Christine Cornforth, Jane Harrold, Mark A. Turner, Louise Kenny, Philip N. Baker, Edward D. Johnstone, Asma Khalil, Peter von Dadelszen, Aris T. Papageorghiou, Zarko AlfirevicAbstractBackgroundSevere early-onset fetal growth restriction (FGR) predisposes to fetal death, neonatal death, neonatal morbidity and neurodisability. The use of placental biomarkers has been proposed for risk stratification in pre-eclampsia, but they could be equally useful in fetal...
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
We examined several parameters including reproductive performance of dams, physical development, postnatal reflex ontogeny, locomotor behavior, neuromuscular strength, anxiety, anhedonic behavior, cognitive abilities and microglia populations in the F1 progeny. The study showed improved reproductive performance of Spirulina supplemented protein malnourished dams, accelerated acquisition of neurological reflexes, better physical appearance, enhanced neuromuscular strength, improved spatial learning and memory and partly normalized PMN induced hyperactivity, anxiolytic and anhedonic behavior in offspring. These beneficial ef...
Source: Brain, Behavior, and Immunity - Category: Neurology Source Type: research
ConclusionsThis was presumed to be a rare case of twin pregnancy by triploid embryo formation, followed by loss of an allele due to postzygotic diploidization, development of a diploid fetus, and development of another fetus from a separate embryo. Because of the existence of cases such as this one with a diploid fetus, but without a normal pregnancy coexistent with a complete hydatidiform mole, diagnosis by genetic analysis is required for prognosis.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Navigating through the many different pre-natal blood tests can be confusing. Names like Sequential Screening, NIPT, and Carrier Screening meant nothing to me before being pregnant. As my doctor explained the different blood tests, I found myself being even more confused. I just wanted to know which blood test was the best option for my baby and me. As you enter your second trimester and prepare to take multiple blood tests, it’s best to do your research beforehand. This way you’ll know what to expect and won’t be overwhelmed by the different options. Here is a breakdown of the different blood tests: Sequ...
Source: Cord Blood News - Category: Perinatology & Neonatology Authors: Tags: pregnancy Source Type: blogs
This study sought to evaluate the causes of this ultrasound sign in a group of patients from Iasi, Romania. During the decade-long study period, there were 71 certified cases involving increased NT; the patients in these cases underwent diagnostic amniocentesis and karyotyping. In most of the examined cases (55 cases, 78%), there was no aneuploidy. The remaining cases involved trisomy 21 (T21) (18%), trisomy 18 (T18) (2%), or triploidy (2%). In most cases, the indication for amniocentesis was increased NT alone (81%), whereas the remaining cases also involved advanced maternal age (5.5%), abnormal serologic markers (10%)...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
Pregnancies complicated by trisomy 13 (T13) or trisomy 18 (T18) present unique challenges for obstetric management. From the initial diagnosis, the task of counseling these women and families is difficult because fetal and neonatal outcomes vary depending on the phenotype and degree of intervention chosen by the family. A literature review was performed using PubMed to gather information regarding obstetric management and outcomes of pregnancies complicated by T13 and T18. Spontaneous abortion and in uterofetal demise occur at rates well above those seen in chromosomally normal pregnancies. In addition, infants with T13 or...
Source: Obstetrical and Gynecological Survey - Category: OBGYN Tags: CME Articles Source Type: research
Ein Plädoyer für den Ultraschall und für aktuelle Guidelines. Ultraschall Med. 2015 Oct;36(5):424-6 Authors: Tercanli S, Filges I Abstract Without doubt, the importance of ultrasound has increased in many areas in recent years. On the one hand, ultrasound examination as a simple procedure without risk has become an essential part of the clinical routine. Thus, for example, the emergent area of focused ultrasound with a clearly definable target issue is becoming increasingly important for basic diagnosis. On the other hand, highly detailed differential diagnoses can be made in all applic...
Source: Ultraschall in der Medizin - Category: Radiology Authors: Tags: Ultraschall Med Source Type: research
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