PubMed · 14455217
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S KENNY. 1962. Phocomelia--three cases.. https://doi.org/10.1259/0007-1285-35-415-462
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Despite increasing research into men's experience of pregnancy and fatherhood, experiences of men whose partner is undergoing fetal screening and diagnosis have been less well-studied. This paper begins to fill a gap in the literature by identifying several potentially conflicting male roles in screening, diagnosis and subsequent decision-making. Drawing on a wider qualitative study in the UK of experiences of antenatal screening, it is suggested men may play inter-linked roles: as parents, bystanders, protectors/supporters, gatherers and guardians of fact, and deciders or enforcers. These may be roles they have chosen, or which are assigned to them intentionally or unintentionally by others (their female partner, health professionals). Men's status and feelings as fathers are sometimes overlooked or suppressed, or may conflict with their other roles, particularly when screening detects possible problems with the baby. The paper concludes by discussing these findings in the context of the wider literature on men and pregnancy.
OBJECTIVE: To evaluate the detection rate of prenatal diagnosis and its impact on outcome in congenital diaphragmatic hernia (CDH). STUDY DESIGN: We retrospectively studied 51 cases of CDH registered in the Auvergne area from January 1992 to December 2003 (Birth Defect Registry of Auvergne, Institut Européen des Génomutations). Our main outcome measurements were the detection rate of prenatal diagnosis, the incidence and types of associated anomalies and outcome (termination of pregnancy, in utero fetal demise, neonatal death, survival at the time of registration). RESULTS: Twenty-nine cases of isolated CDH were identified of which 13 were detected prenatally (45%) at a mean gestational age of 26.1 weeks and 22 cases of CDH with associated anomalies with prenatal diagnosis of CDH or any associated anomaly in 16 (73%; p=0.03) at a mean gestational age of 23.9 weeks. In the prenatally detected group (29 cases), there was 1 (3%) in utero fetal death (IUFD), 17 (59%) terminations of pregnancy (TOP) and 11 (38%) live births with early neonatal death in 7 (24%) cases despite delivery in a tertiary care centre in 10/11 cases (four survivors=14%). Most of the undetected cases were isolated CDH (16/22=73%) of which 1 (5%) was a stillborn and 21 (95%) live births with 17 survivors (77%) although 15/21 (71%) were not born at the tertiary care centre (p=0.001). The overall survival rate was 41% with a large variability depending on associated anomalies and prenatal diagnosis (p<0.0001) (prenatally detected cases: 3/13 (23%) isolated CDH and 1/16 (6%) CDH with associated anomalies; undetected cases: 13/16 (81%) isolated CDH and 4/6 (67%) CDH with associated anomalies). CONCLUSION: Prenatal diagnosis of CDH leads to the delivery of affected babies in tertiary care centres but it remains a challenge in particular for isolated CDH cases and it is associated with a lower survival rate. Associated anomalies contribute to prenatal detection, are related to a higher TOP rate but do not facilitate the detection of diaphragmatic defect per se.
Maternal diabetes is a known risk factor for congenital malformations. Maternal hyperglycemia is a non-specific teratogen. The risk of congenital malformations, even with optimal metabolic control, is considerably elevated compared with non-diabetic pregnancies. The relationship between maternal hyperglycemia in early pregnancy and the risk of congenital malformations seems to be linear without any threshold level. To diminish the risk of congenital malformations, close preconceptional and first-trimester diabetic control and folic acid supplementation of 5 mg/day are recommended.