The Safety Appliance Act and the FELA: A Plea for Clarification

The aim of this thesis is to analyse and examine the debate on prenatal testing in Western countries, with a special focus on my own country, Sweden. In the near future it might be possible for a pregnant woman to profile the DNA of her foetus with a simple blood test early in pregnancy. This method of prenatal testing – Non Invasive Prenatal Diagnosis (NIPD) – could potentially detect the genetic causes of almost every disease. I will argue that prenatal testing should be offered by society to all pregnant women, not only to those at highest risk of giving birth to children with severe conditions. I will do that from a perspective of reproductive freedom. Furthermore, I will argue that offering prenatal testing for some conditions (such as Downs’s syndrome) and not for others, is conflicting with the autonomous choice of the pregnant woman

Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study

Objective: To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study design: The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the department for prenatal screening and/or during labour between January 1, 2002 and December 31, 2012, was recorded. Screening results were compared with the postnatal outcome and maternal morbidity, and mother-to-child transmission (MTCT) was evaluated. Results: One hundred of 330 women (30.5%) had an early anomaly scan, 252 (74.5%) had a detailed scan at 20–22 weeks, 18 (5.5%) had a detailed scan prior to birth, and three (0.9%) had an amniocentesis. In seven cases (2.12%), a fetal anomaly was detected prenatally and confirmed postnatally, while in eight (2.42%) an anomaly was only detected postnatally, even though a prenatal scan was performed. There were no anomalies in the unscreened group. MTCT occurred in three cases (0.9%) and seven fetal and neonatal deaths (2.1%) were reported. Conclusion: The overall prevalence of prenatal ultrasound screening in our cohort is 74.5%, but often the opportunity for prenatal ultrasonography in the first trimester is missed. In general, the aim should be to offer prenatal ultrasonography in the first trimester in all pregnancies. This allows early reassurance or if fetal disease is suspected, further steps can be taken

Defending biomedical authority and regulating the womb as social space. Prenatal testing in the Polish press

The issue of abortion has been the topic of heated and frequent debate in post-Communist Poland. Parliamentary debate in 1998—9 centred around a legislative attempt to restrict prenatal testing, specifically amniocentesis, in order to further reduce the numbers of abortions carried out, as it was argued to inevitably result in the termination of pregnancy. Medical professionals are rarely visible as subjects of and authorities on the abortion debate in the Polish context. However, in this debate around prenatal testing, the medical community appear as key commentators and meaning-makers. This article asks the following questions: What role do the medical profession and biomedical knowledge play in the debate around prenatal testing, when abortion is highly politicized? Second, what social meanings and consequences are attributed to prenatal testing? How do these construct the relationship between foetus, pregnant woman and doctor, and what agency and 'rights' are attributed to women in the process of prenatal testing

2D:4D Suggests a Role of Prenatal Testosterone in Gender Dysphoria

Gender dysphoria (GD) reflects distress caused by incongruence between one’s experienced gender identity and one’s natal (assigned) gender. Previous studies suggest that high levels of prenatal testosterone (T) in natal females and low levels in natal males might contribute to GD. Here, we investigated if the 2D:4D digit ratio, a biomarker of prenatal T effects, is related to GD. We first report results from a large Iranian sample, comparing 2D:4D in 104 transwomen and 89 transmen against controls of the same natal sex. We found significantly lower (less masculine) 2D:4D in transwomen compared to control men. We then conducted random-effects meta-analyses of relevant studies including our own (k = 6, N = 925 for transwomen and k = 6, N = 757 for transmen). In line with the hypothesized prenatal T effects, transwomen showed significantly feminized 2D:4D (d ≈ 0.24). Conversely, transmen showed masculinized 2D:4D (d ≈ − 0.28); however, large unaccounted heterogeneity across studies emerged, which makes this effect less meaningful. These findings support the idea that high levels of prenatal T in natal females and low levels in natal males play a part in the etiology of GD. As we discuss, this adds to the evidence demonstrating the convergent validity of 2D:4D as a marker of prenatal T effects

Addressing Teen Pregnancy in Rural Settings through Comprehensive Teen-Focused Prenatal Programs

During an internship at Magee-Womens Hospital, I had the opportunity to work with the teen centered prenatal care program. Through my interactions with the teens, I found that it is very beneficial to them to have access to a prenatal care program that is teen-focused. I wondered if access the same type of program would be beneficial to pregnant teens in rural areas.Although rates have declined, teen pregnancy continues to be a health issue with significant social and economic implications. Pregnant teens are a vulnerable population at higher risk for poor prenatal and post-partum outcomes. Pregnant teens have unique circumstances that require a different approach than that provided to pregnant adults. Teen parents lack parenting skills and are at a higher risk for child abuse and neglect. Teen mothers are less likely to finish high school and more likely to have poor long-term outcomes. Teen pregnancy in rural settings is as much of an issue as teen pregnancy in urban settings, however, the availability of teen-focused prenatal services in rural areas are disproportionately low. Pregnant teens in rural areas are limited to seeking care in adult-focused clinics or traveling to neighboring urban counties for teen-focused services. Pregnant teens would benefit from comprehensive teen-focused prenatal care programs. Providing care in a teen-focused setting allows teens to learn needed skills in a supportive atmosphere. A teen-focused program addresses issues such as increasing the use of contraception to prevent subsequent pregnancies; it also provides nutritional counseling, teaches parenting skills, encourages continued education, and identifies available resources. Teen Outreach is an example of a comprehensive teen centered education program located in Washington County, PA. The program provides prenatal, post-partum, and parenting education for pregnant teens in a rural setting. The purpose of this thesis is to address the need for comprehensive teen-focused prenatal programs in rural areas

Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis

Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis. The detection of variants with clinical significance by CMA, when compared to karyotype, can increase up to 10-20% in postnatal diagnosis and up to 5-18% in prenatal diagnosis. Nevertheless CMA also detects incomplete penetrance neuro-Susceptibility Loci Copy Number Variants (SL-CNV), which although having clinical significance have an uncertain prognosis. The aim of this study is to identify from the literature a set of SLCNV, and the corresponding penetrance for each variant, determining their occurrence in our cohort of postnatal samples ran between January 2012 and August 2018 and prenatal samples ran between January 2015 and August 2018. We have established a 21 SL-CNV set, and from a total of 835 postnatal samples and 317 prenatal samples we have identified 36 and 11 cases, respectively, with a variant in one of the 21 established SLCNV. The percentage of cases with a SL-CNV is relatively similar between postnatal samples (4.5%) and prenatal samples (3.5%), although the reason of referral for the two groups is not completely overlapping and also the total number of prenatal samples represents about half of the time span of the postnatal samples, which might have underestimated their occurrence. The estimated penetrance for each of the established SL-CNV present some inter-publication variability, especially concerning samples with different phenotypes. Nevertheless some variants show concordance. Estimating the penetrance for SL-CNV, and their clinical impact for the patient or carriers in the family, is a complex task. Only time, analysis of larger cohorts, and future knowledge of genotype-environment-phenotype interactions will overcome this difficulty, decreasing uncertainty for the around 4% of patients diagnosed by CMA.info:eu-repo/semantics/publishedVersio

Prenatal Nicotine Exposure as a Teratogen in Neurological Pathways

Attention-deficit/hyperactivity disorder (ADHD) is the most heritable and commonly diagnosed childhood psychiatric disorder with 4% of all children being diagnosed with this disorder. Prenatal smoking has been found to be a risk factor for ADHD, a disorder that has been believed to be linked to the fluctuation of dopamine levels. Prenatal nicotine exposure in the second trimester influences dopaminergic neurological pathways by altering dopamine release levels. The altered dopamine levels make the fetus brain more sensitive to the nicotine, causing the nicotine exposure to be more dangerous in causing ADHD symptoms. Prenatal nicotine exposure alters the neurological pathway of the neurotransmitters, ACh and dopamine, not only in the fetus but later in adolescence too. When nicotine enters the body, it is distributed quickly through the bloodstream and into the Central Nervous System (CNS). Cigarette smoke interferes with customary placental function, and therefore the flow of nutrients and oxygen. The nAChRs increases the amount of dopamine released in the synaptic area. Functional changes in DRD4 receptors and in dopamine transporter number caused by genetic variations and prenatal smoking exposure results in changes in dopamine release; however, the relationship between prenatal nicotine exposure and ADHD symptoms was not changed by sociodemographic factors. Interventions should be set-up in order to urge women to quit smoking during their pregnancy. The present study has health significance in that the research will urge pregnant women to be cautious of smoking through proposed interventions