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Nonimmune Hydrops Fetalis
Published in Vincenzo Berghella, Maternal-Fetal Evidence Based Guidelines, 2022
Chelsea DeBolt, Katherine Connolly, Mary E. Norton, Joanne Stone
Bradyarrhythmias are most commonly the result of congenital heart block, either from an autoimmune cause or structural abnormalities affecting cardiac conduction. Transplacental passage of maternal antibodies associated with autoimmune diseases is seen in 30–50% of these cases. They can be present in association with anti-Sjogren's- syndrome-related antigen A (anti-Ro) or the combination or anti-Ro/SSA and anti-La/SSB antibodies (see Chapter 27) [1]. Structural abnormalities such as endocardial cushion defects in the setting of heterotaxy syndrome can also interfere with cardiac conduction and lead to heart block. Complete fetal heart block can lead to hydrops when the fetal heart rate is below 60 beats per minute. There have been several case reports showing successful prevention of hydrops after maternal administration of beta-sympathomimetics, such as terbutaline, though data are very limited [11, 12]. Corticosteroids have also been studied as possible treatment for fetal heart block and shown not to be effective in reversing third-degree block or preventing progression from second- to third-degree block [13]. At this time, in utero treatment of fetal hydrops as a result of fetal bradyarrhythmia is not recommended [1].
Paper 3
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Heterotaxy syndromes are frequently diagnosed in utero, especially if there are cardiac defects, but polysplenia can be diagnosed later than asplenia because the associated congenital heart defects are less severe. Females are more commonly affected than males.
Congenital Heart Disease in Pregnancy
Published in Afshan B. Hameed, Diana S. Wolfe, Cardio-Obstetrics, 2020
The patient should be counseled in detail regarding the following: The risk of maternal and fetal adverse outcomes during pregnancy and postpartum period.The potential for adverse long-term outcomes after pregnancy such as the risk of worsening ventricular function in patients with systemic ventricular dysfunction, and the risk for progressive aortic dilation due to pregnancy.Offspring of parents with congenital defects are at a higher risk for congenital heart defects. For those with de novo mutation, risk of CHD recurrence for most lesions is 3%–5%, though the relative risk is higher in patients with atrioventricular septal defect and left ventricular outflow tract obstructive lesions. The relative risk of recurrence is 80-fold for patients with heterotaxy syndrome [23]. Genetic counseling should be offered to patients with known heritable conditions, such as Marfan syndrome, Holt-Oram, Noonan, Alagille, CHARGE, 22q11.2 microdeletion, and Williams syndrome.
Investigating the role of EGF-CFC gene family in recurrent pregnancy loss through bioinformatics and molecular approaches
Published in Systems Biology in Reproductive Medicine, 2021
João Matheus Bremm, Juliano André Boquett, Marcus Silva Michels, Thayne Woycinck Kowalski, Flávia Gobetti Gomes, Fernanda Sales Luiz Vianna, Maria Teresa Vieira Sanseverino, Lucas Rosa Fraga
The EGF-CFC1 (Epidermal Growth Factors – Cripto/FRL-1/Cryptic) gene family encodes a class of extracellular proteins associated with the cell membrane that play important roles during embryonic development (Colas and Schoenwolf 2000). In humans, this family includes two proteins: Cripto and Cryptic (Shen and Schier 2000). Cripto is encoded by the TDGF1 (Teratocarcinoma-derived Growth Factor 1) gene and plays a key role in the formation and correct positioning of the anteroposterior axis of the embryo, and has its expression increased during pregnancy and lactation in adult tissues (Bianco and Salomon 2010; De Castro et al. 2010). CFC1 (Cripto, FRL-1, Cryptic family 1) gene, which encodes the Cryptic protein, is active during embryonic development and presents a spatially-temporally restricted expression pattern according to its signaling functions during gastrulation. Studies using mutant mice for CFC1 show defects of asymmetry in almost all left-right morphogenesis (Shen and Schier 2000). Similarly, the relationship between mutations in the CFC1 gene and Heterotaxy Syndrome (HS) has also been reported in humans (Cao et al. 2015).
Surgical termination of pregnancy for fetal anomaly: what role can an independent abortion service provider play?
Published in Journal of Obstetrics and Gynaecology, 2019
Helen Callaby, Jane Fisher, Patricia A. Lohr
The performance of a post-mortem examination is a feature of the care pathway for many women undergoing TOPFA and often a justification for clinicians to prefer medical over surgical terminations in this population. Most of the TOPFAs undertaken in this evaluation were for diagnosed chromosomal anomalies. In this setting, post-mortem investigations would not normally be required. However, if further testing were requested, studies have shown that chromosomal analysis of tissue after dilation and evacuation is highly accurate and not different from specimens obtained from medical inductions (Bernick et al. 1998; Lal et al. 2014). Furthermore, it is possible to perform an autopsy examination of the fragmented foetus if needed (Ernst et al. 2013). The application of a post-mortem examination after dilation and evacuation is not well-studied, with some reports of diagnostic confirmation as high as 100% (Shulman et al. 1990) and other studies with a lower success rates (Sun et al. 1999; Lal et al. 2014). It appears as though the potential for diagnosis is higher after examination of a post-surgical specimen with some anomalies (e.g. skeletal, cardiac, genitourinary, and neural tube) than others (e.g. CNS, heterotaxy) (Ernst et al. 2013). Nevertheless, where a woman does not desire an autopsy or one is not indicated, surgical termination of methods should be offered alongside a medical induction. Clinicians may also consider working with their local pathology departments to determine if the likelihood of a successful examination is high given the type of anomaly, as diagnosed ultrasonographically.
Heterotaxy Syndrome with Increased Nuchal Translucency and Normal Karyotype Associated with Complex Systemic Venous Return. Ultrasound Diagnosis with Autopsy Correlation
Published in Fetal and Pediatric Pathology, 2022
Gabriele Tonni, Maria Paola Bonasoni, Gianpaolo Grisolia, Maria Bellotti, Edward Araujo Júnior
Heterotaxy syndrome represents 0.4–2% of all CHDs and carries a poor prognosis (75–90%) when associated with complete atrioventricular block and sinus bradycardia and congestive heart failure [20–25]. Escobar-Diaz et al. [21] described, in a review of 154 fetuses with heterotaxy syndrome, 22 with an atrioventricular block/sinus bradycardia; of the 19 ongoing pregnancies, 7 (36,8%) were associated with hydrops and hydrops resulted in a significant increased perinatal risk factors for either fetal intrauterine demise (p= .009) or postnatal mortality (p= .002), in agreement with data from Berg et al. [26].