Supernumerary chromosomes in six patients

Cytogenetic investigations on five constitutional supernumeraries are presented and correlated to the clinical picture of carriers. Two severely mentally retarded, unrelated patients had similar but not identical inv dup (15) chromosomes and one mildly retarded patient had a small centric fragment, probably a ring chromosome; one infertile man, and a normal father and daughter had double NOR-stained metacentric markers, interpreted to be entirely heterochromatic.     

Antenatal magnetic resonance imaging is useful in providing predictive values for surgical procedures in abdominal wall defects

Background

Antenatal magnetic resonance imaging (MRI) is useful for the diagnosis of abdominal wall defects. Its predictive value concerning the possibility of primary closure of the abdominal wall, however, has so far not been reported.

Methods

Between August 2001 and November 2004, antenatal MRI was performed on 9 patients with abdominal wall defects in whom surgical repair was performed immediately after birth. Areas of the abdominal cavity and exteriorized viscera were manually traced from both sagittal and axial MR images, and the data were further transmitted to a Workstation for MRI Volumetry (Advantage Windows 4.1, General Electric Medical Systems, Milwaukee, Wis). We examined the exteriorized ratio (ER), which is calculated by dividing the absolute volume of the abdominal cavity by that of the exteriorized viscera, and evaluated the predictive value by a retrospective comparison with surgical procedure.

Results

In the primary closure group (n = 5), mean values of ER were 0.33 ± 0.31 from axial and 0.45 ± 0.31 from sagittal MR images. In contrast, in the staged closure group (n = 4), mean values of ER were 1.39 ± 0.40 from axial and 1.34 ± 0.42 from sagittal MR images. There was a significant difference (P < .05) between the 2 groups for both sets of images. The ER obtained from antenatal MRI correlated well with surgical procedure.

Conclusions

The ER might be useful for antenatal counseling, planning for delivery, and prediction of the most likely surgical procedure.     

Midwives' experiences of routine antenatal questioning relating to men's violence against women

OBJECTIVE: to describe and use the experience gained by antenatal-care midwives who routinely questioned pregnant women about personally experienced violence. DESIGN: qualitative, using focus-group discussions. SETTING: antenatal care in a city in south-central Sweden. STUDY POPULATION: 21 midwives. DATA COLLECTION AND ANALYSIS: the midwives participated in any one of five focus-group discussions held by the same moderator and observer. The discussions were audiotaped, transcribed verbatim and analysed using qualitative content analysis. FINDINGS: the importance of routine questioning about violence was emphasised in all groups. Midwives felt they had failed in their duty when women were not questioned. The two main obstacles to such questioning were the delicacy of the subject and the routine of inviting the partner to all visits. The perceived delicacy underlined the need to devise a natural setting for the questioning. The midwives wanted to connect questions about abuse with related subjects routinely established in early pregnancy. As the partner was invited to every visit, it was not practicable to establish a procedure whereby the assessment was connected with a particular visit. Other obstacles included the following: time constraints, oversight, a preconceived notion of who might be a victim of abuse and language difficulties. The midwives emphasised the importance of training, easy access to support for abused women, and personal counselling for midwives. They described their role as raising awareness of the problem of male violence, reducing the shame of being abused, informing, giving emotional support and mediating help. KEY CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: in order to ensure that the establishment of experience of violence is a routine enquiry in antenatal care, midwives must have a reasonable opportunity of carrying out such questioning. A routine that offers each woman a private consultation will ease the questioning and save time and distress.     

Influence of perinatal care regionalisation on the referral patterns of intermediate- and high-risk pregnancies

OBJECTIVE(S): To use the delivery site according to the birth weight as a marker of changes in the referral practices after regionalisation of perinatal care. STUDY DESIGN: Analysis of the distribution of low birth weight infants according to the level of care in Rhone-Alpes from 1998 to 2000 and analysis of the birth rate heterogeneity according to the delivery site characteristics. RESULTS: The distribution of infants相似文献   

Interventional fetal balloon valvuloplasty for congenital heart disease—current shortcomings and possible perspectives

Fetal cardiac interventions are new and relatively unknown investigational options for modifying congenital heart disease in utero. Techniques for safer access to the fetus must be improved, and selection criteria for patients for whom these procedures are potentially beneficial must be developed. Currently, antenatal cardiac intervention attempts are being made to either prevent or reverse hydrops in fetuses with cardiac valve disease or outflow tract obstruction or to recruit hypoplastic ventricles. Most important are early detection and referral of these fetuses, thereby enabling timely procedures with improved outcomes. However, performing successful fetal cardiac interventions requires multidisciplinary collaboration between obstetricians, pediatric cardiologists, pediatric cardiac surgeons, and anesthesiologists, as each discipline provides specific skills for these critically ill babies.     

Clinical features of pregnancies with fatal fetal abnormality

Obstetrical features and antenatal findings in 68 pregnancies with fatal fetal abnormalities are evaluated. The course of the pregnancy was complicated in 81% of these cases, the most common complication being intrauterine fetal growth retardation (IUGR) which was typical for 18-trisomies and multimalformed fetuses. The retardation in symphyseal-fundal growth was manifested on the average on the 25th gestational week. Low-profile type biparietal growth retardation was associated with 43% of the IUGR cases, and the brain-sparing effect in growth was found in 29%. Polyhydramnios was a complication in 30% of the series. Premature labor was associated with 60% of the spontaneously initiated deliveries in the series, and was not due to the polyhydramniotic tendency only. Antenatal evaluation of the fetoplacental unit function revealed a normal capacity in 62% of the cases. The fatality of the fetal abnormality was not manifested in any special feature in the complications of the pregnancy. Antenatal etiological evaluation and search for fetal anomalies in all pregnancies complicated by early IUGR, polyhydramnios and imminent premature labor is stressed for the adequate assessment of perinatal care.     

Validation of the Edinburgh postnatal depression scale (EPDS) in a sample of women with high-risk pregnancies in France

Summary This research is intended to validate the Edinburgh Postnatal Depression Scale (EPDS) in a high-risk pregnant population.Method: Sixty women attending antenatal consultations for pregnancy complication in a major Parisian maternity facility were included. They completed the EPDS and were then interviewed according to a standardised psychiatric interview.Results: The study of its sensitivity, specificity and predictive values, with a DSM-IV diagnosis of major depression as the reference, found that 11.5 was the optimal cut-off score (Se 0.80; Sp 0.80). Its validity as an index of severity of depression was also good as well as internal consistency and reliability. Factor analysis showed that its internal structure is composed of two subscales (F2 depression and F1 with items reflecting depression and other disorders, including anxiety).Conclusion: The French version of the EPDS would be a valid instrument to identify pregnant women who are likely to have clinical major depression. The results may have to be confirmed on a community sample before clinical use.     

The Association Between Maternal Smoking in Pregnancy,Other Early Life Characteristics and Childhood Vision: The Twins Eye Study in Tasmania

Purpose: To investigate the association between maternal smoking in pregnancy, early-life environment and childhood vision. Methods: Twin and triplet children enrolled in the Twins Eye Study in Tasmania underwent a comprehensive ophthalmic examination and their parents/guardians retrospectively answered a questionnaire regarding crawling, walking and other measures. A subset of these twins was also in the Tasmanian Infant Health Survey, which prospectively collected data on antenatal smoking, gestation, birth weight and other factors. Results: The mean age of the 346 individuals (172 multiple birth sets) at the time of examination was 9.25 ± 2.4 years. Mean unaided visual acuity was 0.0 (6/6). The mean spherical equivalent was +0.87D, and decreased with increasing child age (p < 0.01). A prospective analysis, accounting for birth set clustering and relevant confounders, showed increasing levels of maternal smoking in the third trimester was associated with poor stereoacuity on the Titmus test (worse (>) than 100″, p = 0.05) and Lang test (p = 0.001) and also with the presence of esotropia (p = 0.02). These associations persisted after adjustment for infant postnatal smoke exposure at one month of age. Poor stereoacuity on Titmus stereo test circles was associated with late age of first crawling (RR = 1.23 (1.06, 1.42) p = 0.005 per month) and late age of first walking (RR 1.18 (1.05, 1.22) p = 0.001 per month). Conclusions: Antenatal smoking was independently associated with poor stereovision and the presence of esotropia. Poor stereoacuity may be associated with delayed age at first crawling or walking.     

徐州市2004年～2009年出生缺陷资料分析

目的进一步掌握徐州市围产儿出生缺陷的发生率和种类,探索出生缺陷的影响因素,为制定降低出生缺陷发生的干预措施提供依据。方法回顾性分析2004年～2009年徐州市开展助产的医疗机构分娩的围产儿出生缺陷监测资料。结果 6年监测676 014例围产儿,其中出生缺陷儿2400例,平均出生缺陷发生率为3.55‰,2004年～2009年的出生缺陷发生率分别为3.15‰、3.36‰、3.64‰、3.97‰、3.09‰、3.86‰,总体呈上升趋势。前5位出生缺陷依次为唇裂合并腭裂、多并指（趾）、神经管畸形（包括无脑畸形、脊柱裂、脑膨出）、唇裂、先天性脑积水。结论提倡婚检,定期产前检查,开展产前诊断及新生儿筛查技术,加强健康宣教,提高群众的优生优育意识,是降低出生缺陷发生率和围产儿死亡率的有效措施。     

Mood state and psychological adjustment to pregnancy

Summary The aim of this study was to investigate whether there is an association between antenatal mood state (depression and anxiety) and psychological adjustment to pregnancy. Participants were first-time, low obstetric risk mothers at a Sydney teaching hospital who completed self-report questionnaires measuring depression, anxiety, thoughts about motherhood and self as mother and relationship with the fetus. Higher symptom levels of antenatal anxiety were related to less optimal maternal-fetal quality of attachment, more negative attitudes towards motherhood and the self as mother. Similar trends were found for symptoms of depression, however depression was not significantly related to psychological adjustment to pregnancy variables. The significance of anxiety in the current study highlights the importance of considering anxiety in the psychological adjustment to pregnancy, as well as the in the context of perinatal mental health more generally. Implications of these findings for intervention are also briefly discussed.