Obesity
Judy Bothamley, Maureen Boyle in Medical Conditions Affecting Pregnancy and Childbirth, 2020
Many studies have demonstrated an increased number of various congenital abnormalities associated with maternal obesity17,64. It is worth noting that the increased risk, while significant, is still relatively low. In a recent study of over 1 million live births, the risk of major congenital malformation was 3.5% for all women, and whilst the risk of congenital malformation rises with increased increment of BMI, the rate of congenital malformation in the obesity category III was found to be 4.7%. The most common malformation found was neural tube defects64. Others were limb reduction anomalies, cardiac disorders and cleft lip and palate17. The causes of congenital malformation are multifactorial and include genetic and environmental factors such as smoking, alcohol and socio-economic features. Both maternal folate deficiency and glucose intolerance at the critical point of embryological development (as seen in diabetes) have been suggested as possible causes17. It has also been suggested that the increased neural tube defect rate may be due to decreased levels of folic acid reaching the fetus as the obese mother has increased metabolic demands and possibly a diet poor in folate64.
Diamond–Blackfan Anemia
Dongyou Liu in Handbook of Tumor Syndromes, 2020
Congenital malformations occur in about 50% of patients and often affect: (i) head and face (50% of cases; microcephaly; hypertelorism, epicanthus, ptosis; microtia, low-set ears; broad, depressed nasal bridge; cleft lip/palate, high-arched palate; micrognathia; low anterior hairline), (ii) eye (congenital glaucoma, congenital cataract, strabismus), (iii) neck (webbing, short neck), (iv) upper limb and hand including thumb (38% of cases; absent radial artery, flat thenar eminence, triphalangeal/duplex/bifid/hypoplastic/absent thumb), (v) genitourinary (19% of cases; absent kidney, horseshoe kidney, hypospadias), (vi) heart (15% of cases; ventricular septal defect, atrial septal defect, coarctation of the aorta, other cardiac anomalies), and (vii) growth (25%–30% of cases; low birth weight, growth retardation/short stature) (Figures 67.1 and 67.2) [20–22].
Endocrinology
Stephan Strobel, Lewis Spitz, Stephen D. Marks in Great Ormond Street Handbook of Paediatrics, 2019
This condition is usually detected on neonatal screening. In the UK, TSH screening occurs at 5–10 days of age; in other regions screening may be T4-based. Screening has resulted in a massive decline in cretinism, and few infants now manifest clinical evidence of severe thyroxine deficiency. Clinical features, when present, include an umbilical hernia, macroglossia, constipation, feeding problems, lethargy, respiratory distress, prolonged jaundice, hoarse cry, hypotonia, coarse facies (Fig. 13.41), growth failure, abundant hair, delayed closure of fontanelles, hypothermia and a dry, mottled skin. Retarded bone maturation with delayed epiphyseal ossification and epiphyseal dysgenesis are other features. These usually appear if the diagnosis has been missed for more than 6 weeks. Other congenital malformations are present in 7% of cases.
Bucket hydrokinesiotherapy in hospitalized preterm newborns: a randomized controlled trial
Published in Physiotherapy Theory and Practice, 2022
Natália Matos Tedesco, Andressa Lagoa França Nascimento, Geruza de Souza Mallmann, Leila Simone Foerster Merey, Elaine Pereira Raniero, Walusa Assad Gonçalves-Ferri, Daniele Soares-Marangoni
Thirty-four preterm newborns (32.62 ± 1.08 weeks gestation; birth weight 1,722.62 ± 345.95 grams) were included. They were randomly allocated into experimental group (hydrokinesiotherapy, n = 17) or control group (diaper change only, n = 17) (Figure 1 and Table 1). As most preterm infants that undergo hydrokinesiotherapy in clinical practice are required to be clinically stable, this was an inclusion criterion. All infants should show an increase in weight during the last body weight measurement before the experiment. In addition, they should be cleared for bathing by the neonatology team. Newborns who, according to the neonatologists’ medical records, had at least one of the following conditions were not included: 1) congenital malformations; 2) genetic syndromes; 3) progressive diseases; 4) orthopedic or cardiorespiratory abnormalities; 5) grade III and/or IV peri-intraventricular hemorrhage; and 6) hyperbilirubinemia. All included infants were breathing spontaneous on room air although oxygen supplementation was not an exclusion criterion. This study was approved by the Research Ethics Committee of the Federal University of Mato Grosso do Sul (protocol # 1.804.078/2016) and all parents/caregivers signed informed legal consent.
Breast cancer during pregnancy: results of maternal and perinatal outcomes in a single institution and systematic review of the literature
Published in Journal of Obstetrics and Gynaecology, 2019
Natalia R. Gomez-Hidalgo, Elsa Mendizabal, Laura Joigneau, Pilar Pintado, Juan De Leon-Luis
Moreover, Amant et al. (2015) published in 2015 a prospective case–control study comparing the children born to a mother with different types of cancer during pregnancy with the children born to a mother without cancer. A total of 129 children were included in the group whose mother had cancer with a matching number in the control group. They included 96 children exposed to chemotherapy during in utero life, 11 children whose mother received radiotherapy during pregnancy, 13 children whose mother was treated only with surgery during pregnancy and 14 children whose mother did not receive any treatment during pregnancy. The mean age of these children at the end of the follow-up was 22 months (12–42 months). The type and the frequency of congenital malformations were similar to the general population, as well as the cardiac and the neurological development. They did not find any statistically significant difference for preterm deliveries or the small for gestational age neonates.
Prevalence and impact of pre-pregnancy body mass index on pregnancy outcome: a cross-sectional study in Croatia
Published in Journal of Obstetrics and Gynaecology, 2021
Katja Vince, Marko Brkić, Tamara Poljičanin, Ratko Matijević
According to MBC data, a total of 36,498 pregnant women were reported to CIPH to have given singleton birth in Croatia during the year of 2017. Among them 4447 had incomplete data (one of the analysed parameter was missing) after their exclusion, our sample consisted of 32,051 women with all data collected. Maternal characteristics, perinatal issues and neonatal outcome in general as well and their separate analyses according to maternal pre-pregnancy BMI are listed in Table 1. Total number of congenitally malformed newborns was 1054, 3.3% of all deliveries. The five most common congenital malformations were: atrial septal defect (n = 294, 24.6%), ventricular septal defect (n = 80, 6.7%), congenital hydronephrosis (n = 52, 4.4%), congenital unstable hip (n = 38, 3.2%) and ankyloglossia (n = 33, 2.8%). Other congenital malformations were present with frequency of less than 3% of all deliveries.
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