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Perinatal and Pediatric Outcome of Pregnancies Following PGT-M/SR/A
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Malou Heijligers, Christine de Die-Smulders
Perinatal outcome of pregnancies following PGT has been the subject of much study [5,11–13,16–18]. A major concern regarding PGT was the increased risk of congenital abnormalities due to the embryo biopsy, especially because regular IVF with ICSI is already associated with an increased risk of birth defects [6]. Congenital abnormalities can be detected during pregnancy and after birth. Some of the prenatally detected abnormalities are not compatible with life and lead to intra-uterine fetal death or termination of pregnancy. Reports on congenital abnormalities differentiate between major and minor abnormalities, and between isolated and multiple abnormalities, the latter sometimes being part of a syndrome. Congenital abnormalities are defined as structural, functional, and genetic anomalies. Those that do not have serious medical, functional, or cosmetic consequences are considered minor.
Introduction
Published in Jackie Musgrave, Health and Wellbeing for Babies and Children, 2022
Despite the medical advances that have contributed to saving lives and improved health for children, since 2016, progress in improving children's health has stalled, and according to a report by the Nuffield Foundation (Oppenheim et al. 2021) in some cases it has reversed. This can be attributable to many reasons. For instance, the improvements in antenatal and neonatal care have meant that many babies who inherit a genetic condition may survive, whereas only a few years ago, they would not have survived. However, many are born with congenital abnormalities which often leave a legacy of complex medical needs. Consequently, there is an increasing number of children with complex medical needs who require support with their health needs and in turn, with their wellbeing. The global pandemic caused by the coronavirus that started in 2019 has impacted on children's lives and health in a myriad of ways (UNICEF 2021), some examples of the impact will be addressed throughout the book.
Diabetes mellitus
Published in Catherine Nelson-Piercy, Handbook of Obstetric Medicine, 2020
There is an increased risk of congenital abnormalities. In the CEMACH study of pre-existing diabetes, the overall rate was 4% (double background) with a threefold increase in the rates of both neural tube defects and congenital heart disease. The level of risk is directly related to the degree of glycaemic control around the time of conception and directly correlated with the HbA1C. Women with HbA1C <8% have a risk of approximately 5%, but in those with levels >10%, the risk is as high as 25%. The risk is eliminated if normal HbA1C levels are achieved. The recommendation is that the HbA1C should be <7% (United States and Australia) and <6.1% (43 mmol/L) in the United Kingdom if safely achievable at the time of conception.
Gestational Outcomes of Pregnant Women with Unilateral Congenital Renal Agenesis
Published in Fetal and Pediatric Pathology, 2022
Erdem Fadiloglu, Onur Can Zaim, Murat Cagan, Canan Unal, M. Sinan Beksac
We have also demonstrated that the frequencies of congenital anomalies were higher in patients with UCRA [OR, 2.97 (0.99–8.87)]. Findings require cautious consideration, because the number of patients included in this data set is relatively low and our control group consists of patients without any systemic disorders and matched with a study group according to their maternal age. Additionally, we have included any minor congenital abnormalities that were detected in the early neonatal period of the participants. This is important because none of the newborns in our series had an early infant death as a result of detected congenital abnormalities. The importance of this finding is therefore questionable and requires confirmation through further study. There is little data for this concern, though Kendrick et al. reported similar infant deaths and NICU admissions compared to their control group [22]. In this study, we have shown that newborns with an APGAR score of <7 at the first 10 min were significantly more common compared to the control group. In the subject cohort, the unadjusted odds ratios was significantly higher for any APGAR score <7 at the first 10 min [OR (95% CI): 31 (3.44–279.32)]. In this study, newborns from mothers with UCRA experienced a higher frequency of NICU admissions.
Sleep quality and obstructive sleep apnoea and triple screen test results in pregnancy
Published in Journal of Obstetrics and Gynaecology, 2021
The triple screen test informs whether an infant has congenital anomalies such as Down syndrome (DS) (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13) or neural tube defect (NTD) (Palomaki et al. 1995; Craig et al. 2007; Günay 2019). The triple screen test includes serum biochemistry screening performed between 14 and 20 gestational weeks and is based on generating a congenital disease-specific risk ratio by a program using maternal serum total beta-human chorionic gonadotropin (tβ-hCG), unconjugated oestriol (uE3), alpha-fetoprotein (AFP) values and maternal age as input (Onrat et al. 2009; Reynolds 2010; Acikbas et al. 2012; Günay 2019). Previous studies have shown that levels of serum total pregnancy-associated plasma protein-A (PAPP-A) and uE3 are decreased in cases of OSAS (Bourjeily et al. 2015a,b). These hormones are included in tests used to screen pregnancies with congenital abnormalities.
Detection of altered methylation of MB-COMT promotor and DRD2 gene in cannabinoid or synthetic cannabinoid use disorder regarding gene variants and clinical parameters
Published in Journal of Addictive Diseases, 2021
Yasemin Oyaci, Hasan Mervan Aytac, Ozge Pasin, Pinar Cetinay Aydin, Sacide Pehlivan
An increasing number of studies have started to explain the role of DNA methylation in SUD.36 Firstly, substance usage can alter DNA methylation by repeated administration. The substances have been reported to modify methylation patterns in the brain’s reward areas.37 Secondly, DNA methylation can cause addiction’s pathophysiology by affecting genes’ expression related to synaptic plasticity and memory. This situation results in long-term neuroadaptations underlying the onset and endurance of addictive behaviors.38 Thirdly, the literature includes studies on maternal substance use and fetal genetic methylation. They showed that epigenetic alteration had transferred to the first generation without direct exposure to any drug. Throughout the first half of pregnancy, alcohol usage can change epigenetic patterns in the embryo, leading to reduced fetal growth and congenital abnormalities following SUD risk.39