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Prenatal Diagnosis and Screening for Aneuploidy
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Sarah Harris, Angie Jelin, Neeta Vora
The major abnormalities are increased risk of FGR, congenital heart defects, fetal and postnatal death, and developmental delay, with average IQ 50–75. Congenital heart defects are major contributors to mortality.
Paper 2
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
Patent ductus arteriosus (PDA) is most common in premature infants. The most common congenital heart defects are ventricular and atrial septal defects. Patent ductus arteriosus can be asymptomatic if small, but if large they present with signs of heart failure due to the left to right shunt. PDA is an acyanotic congenital cardiac anomaly and children may have signs of cardiomegaly and pulmonary oedema.
Cardiac and cardiovascular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Among the identified environmental causes, rubella is still the most important globally, but its incidence in developed countries has fallen as a result of the active immunisation of adolescents in school-based programmes. However, congenital heart defects are produced by almost all the less specific teratogens and environmental factors (see Chapter 28), which should be carefully enquired after, even though it may not be possible to prove cause and effect in an individual case. Prenatal exposure to alcohol is increasingly recognised as an important risk factor (e.g. for ventricular septal defects). Lithium is specifically associated with Ebstein anomaly. Other important teratogenic drugs include retinoic acid and the anticonvulsants. The offspring of diabetic women also form a high-risk group, not only for hypoglycaemia from hyperinsulinism in the first few days after birth but also from teratogenesis. Maternal phenylketonuria (PKU) is a potent but preventable cause of cardiac malformation and should no longer be a cause of such problems. Monozygous twinning is itself a risk factor for congenital heart disease, such twins having a threefold increase in risk (around 1.5%). In contrast to earlier thinking, there seems to be no evidence of a maternal age effect except through its effect on chromosomal disorders.
Reproductive health in adults with congenital heart disease: a review on fertility, sexual health, assisted reproductive technology and contraception
Published in Expert Review of Cardiovascular Therapy, 2023
J.A. van der Zande, G. Wander, K.P. Ramlakhan, J.W. Roos-Hesselink, M.R. Johnson
Before considering ART in patients with CHD, it is recommended to first determine the impact of a pregnancy on their heart disease and vice versa. Owing to data regarding pregnancy outcomes in women with heart disease from several registries, it has become increasingly clear which specific congenital heart defects are associated with a low, moderate, or high risk of maternal morbidity or mortality during pregnancy [36–39]. The modified World Health Organization (mWHO) classification is a reliable tool for the prediction of the maternal risk in women with CHD (Table 1) [15,40]. If pregnancy is considered safe, the pros and cons and the possible complications of an ART procedure should be considered. However, data on ART complications specifically in patients with heart disease are scarce and the available studies are all small and retrospective, so the discussion is almost always based on expert opinion [41–43]. The occurrence of complications during ART in women with heart disease varies from 3% to 18%, and includes OHSS, syncope, intra-abdominal bleeding, and endocarditis. The ESC guideline states that fertility treatment is contraindicated in women with mWHO class IV (as is pregnancy itself) and that caution is advised in women with mWHO class III or those who are anticoagulated [15]. A detailed understanding of ART is necessary to be able to discuss the risks of the available investigations and treatments for patients with CHD who are considering ART (Figure 3).
A novel variant in DOCK6 gene associated with Adams–Oliver syndrome type 2
Published in Ophthalmic Genetics, 2020
Tariq Alzahem, Abrar K. Alsalamah, Marco Mura, Sulaiman M. Alsulaiman
Central nervous system involvement is common in patients with AOS. Out of 16 cases with AOS type 2, 11 (69%) had associated brain anomalies (19). These anomalies include microcephaly, encephalocele, and neuronal migration defects such as pachygyria and polymicrogyria. Periventricular calcifications were related to a possible preceding vascular insult and intellectual deficits usually occur in the presence of microcephaly or other structural anomalies (19). Our patient had microcephaly, periventricular calcifications, mild lateral ventricular enlargement, truncal hypotonia, and global developmental delay that were most likely attributed to AOS type 2. Congenital heart defects were reported in 31% of patients but our patient was not found to have any (19). Others systemic features include cutis marmorata telangiectatica congenita, pulmonary vein stenosis, and portal hypertension (13).
Long-term health-related burden of adult congenital heart diseases in Hong Kong
Published in Journal of Medical Economics, 2019
Vivian W. Y. Lee, Bryan P. Yan, Tiffany M. C. Fong, Anita K. P. Fung, Franco W. T. Cheng
Several large registries have been established to collect epidemiological data for ACHD patients2,5,8. The CONCOR registry in the Netherlands had recruited more than 14,000 ACHD patients from 102 hospitals. In this registry, a nearly equal number of females and males were recruited (49.5% vs 50.5%). Congenital heart defects were classified into simple, moderate, and severe cardiac defects, which constituted 56%, 34%, and 10%, respectively9. Another well-known registry is the Quebec study from Canada, which is a population study of 28 years based on a government database4; 39,051 adults were included in the study, with a median age of 40 years and female predominance (56%). Ten per cent were severe ACHD patients2.