Etude de la variation interlaboratoire du test de dépistage prénatal des défauts de fermeture du tube neural [Interlaboratory variation in the prenatal screening test for neural tube closing defects].

Early detection of neural-tude defects is possible by determining Alpha-fetoprotein (AFP) in maternal serum. 16'685 pregnant women were observed. Three methods for the determination of the "normal" range are compared. The first one, already used in similar studies, makes use of a constant multiple of the median. The other two ones make use of robust estimates of location and scale. Their comparison shows the interest of the robust methods to reduce the interlaboratory variability.

Prenatal diagnosis of urinary malformations: results in a series of 93 consecutive cases.

OBJECTIVE: To evaluate the pertinence of prenatal diagnosis in cases of congenital uropathy. STUDY DESIGN: Retrospective evaluation over a period of 6.5 years. METHOD: 93 cases were involved in the comparison of prenatal ultrasonographic diagnosis with neonatal findings, autopsy results, and follow-up data. RESULTS: 33 fetuses had renal parenchymal lesions, 44 had excretory system lesions, and 6 had bladder and/or urethral lesions. Seventy-three pregnancies lead to live births. Eighteen terminations of pregnancy were performed on the parents' request for extremely severe malformations. Two intrauterine deaths were observed, and two infants died in the postnatal period. Prenatal diagnosis was obtained at an average of 27 weeks gestation. Diagnostic concordance was excellent in 82% and partial in 12% of cases with renal parenchymal lesions; the false-positive rate was 6%. For excretory system lesions, concordance was excellent in 87% and partial in 7.4% of cases, with a false-positive rate of 5.6%. Finally, concordance was excellent in 100% of cases of bladder and/or urethral lesions. The overall rate of total concordance was 86%. Partial concordance cases consisted of malformations different from those previously diagnosed, but prenatal diagnosis nevertheless lead to further investigations in the neonatal period and to proper management. The false-positive diagnoses (5.4%) never lead to termination of pregnancy. CONCLUSION: Prenatal diagnosis of congenital uropathy is effective. A third-trimester ultrasonographic examination is necessary to ensure proper neonatal management, considering that the majority of cases are diagnosed at this gestational age.

Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes.

Cardiac rhabdomyomas are benign cardiac tumours with few cardiac complications, but with a known association to tuberous sclerosis that affects the neurologic outcome of the patients. We have analysed the long-term cardiac and neurological outcomes of patients with cardiac rhabdomyomas in order to allow comprehensive prenatal counselling, basing our findings on the records of all patients seen prenatally and postnatally with an echocardiographic diagnosis of cardiac rhabdomyoma encountered from August, 1982, to September, 2007. We analysed factors such as the number and the location of the tumours to establish their association with a diagnosis of tuberous sclerosis, predicting the cardiac and neurologic outcomes for the patients.Cardiac complications include arrhythmias, obstruction of the ventricular outflow tracts, and secondary cardiogenic shock. Arrhythmias were encountered most often during the neonatal period, with supraventricular tachycardia being the commonest rhythm disturbance identified. No specific dimension or location of the cardiac rhabdomyomas predicted the disturbances of rhythm.The importance of the diagnosis of tuberous sclerosis is exemplified by the neurodevelopmental complications, with four-fifths of the patients showing epilepsy, and two-thirds having delayed development. The presence of multiple cardiac tumours suggested a higher risk of being affected by tuberous sclerosis. The tumours generally regress after birth, and cardiac-related problems are rare after the perinatal period. Tuberous sclerosis and the associated neurodevelopmental complications dominate the clinical picture, and should form an important aspect of the prenatal counselling of parents.

Evaluation of prenatal diagnosis of congenital heart disease in a regional controlled case study.

AIMS: This study evaluated the evolution of the prenatal diagnosis of congenital heart disease (CHD) between 2003 and 2008 and its repercussion for the CHD prevalence rate at birth in a well-defined population (Canton of Vaud, Switzerland). METHODS AND RESULTS: All 572 cases of CHD reported in the Eurocat Registry of Vaud-Switzerland between 1.5.2003 and 31.12.2008 were analysed and compared with the cases in our clinical database. CHD cases were divided into five different groups according to heart disease severity. The prenatal detection rates increased significantly between 2003 and 2008, with a mean detection rate of 25.2%. There was a significantly higher rate of prenatal diagnosis in the first four groups of CHD severity, with the highest detection rate (87.5%) found in the group with the most severe CHD (group 1). In this group, 85.7% of cases resulted in a termination of pregnancy, and there was a consequent 75% reduction in the prevalence of severe major cardiac malformation at birth. Detection rates were 66% in group 2, 68.6% in group 3, and the lowest in groups 4 and 5, with rates of 25.9% and 12.9%, respectively. CONCLUSION: This study shows that the prenatal detection rate for CHD increased in a well-defined population over the study period. Prenatal diagnosis thus has had a major impact on patients with the most severe types of CHD and has resulted in a significant reduction in severe CHD at birth.

Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening.

OBJECTIVE: To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome. DESIGN: Population-based prevalence study based on EUROCAT congenital anomaly registries. SETTING: Eight European countries. POPULATION: 14.8 million births 1990-2009; 2.89% multiple births. METHODS: DS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases. MAIN OUTCOME MEASURES: Relative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome. STATISTICAL ANALYSIS: Poisson and logistic regression stratified for maternal age, country and time. RESULTS: Overall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53-0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co-twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25-0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23-1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50-0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27-0.59]). CONCLUSIONS: The risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening.

Iowa's Barriers to Prenatal Care Project, August 2013

The findings in this summary are based on the Iowa Barriers to Prenatal Care project. Ongoing since 1991, the purpose of this project is to obtain brief, accurate information about women delivering babies in Iowa hospitals. Specifically, the project seeks to learn about women’s experiences getting prenatal or delivery care during their current pregnancy. Other information is included which may be pertinent to health planners or those concerned with the systematic development of health care services. This project is a cooperative venture of all of Iowa’s maternity hospitals, the University of Northern Iowa Center for Social and Behavioral Research, and the Iowa Department of Public Health. The Robert Wood Johnson Foundation funded the first three years of this project. The current funding is provided by the Iowa Department of Public Health. The Director is Dr. Mary Losch, University of Northern Iowa Center for Social and Behavioral Research. The Coordinator for the project is Rodney Muilenburg. The questionnaire is distributed to nearly ninety maternity hospitals across the state of Iowa. Nursing staff or those responsible for obtaining birth certificate information in the obstetrics unit are responsible for approaching all birth mothers prior to dismissal and requesting their participation in the study. The questionnaire takes approximately ten minutes to complete. Completed questionnaires are returned to the University of Northern Iowa Center for Social and Behavioral Research for data entry and analysis. Returns are made monthly, weekly, or biweekly depending on the number of births per week in a given hospital. Except in the case of a mother who is too ill to complete the questionnaire, all mothers are eligible to be recruited for participation. The present yearly report includes an analysis of large Iowa cities, African American mothers, and a trend analysis of the last ten years. Also presented in this report is a frequency analysis of all variables included in the 2012 questionnaire. Unless otherwise noted, all entries reflect percentages. Please note that because percentages were rounded, total values may not equal 100%. Data presented are based upon 2012 questionnaires received to date (n = 23,674). All analyses reflect unweighted percentages of those responding.

Prenatal diagnosis of a fetal abdominal eventration: a rare congenital abdominal wall defect.

We report a case of abdominal eventration associated with cystic fibrosis, diagnosed by mid-trimester ultrasonography. The defect concerned the abdominal muscles and their aponevrotic sheath, but respected the skin. There was no associated malformation. The outcome was favorable after surgery, and the infant is well at the age of 6 months.

Congenital hydronephrosis: prenatal diagnosis and epidemiology in Europe.

OBJECTIVE: To describe prevalence, prenatal diagnosis and epidemiology of congenital hydronephrosis (CH) in Europe. MATERIAL AND METHOD: Data from a large European database for surveillance of congenital malformations (EUROCAT). The 20 participating registries are all based on multiple sources of information and include information about livebirths, fetal deaths with gestational age >or=20 weeks and terminations of pregnancy after prenatal diagnosis of malformations. Included were all cases with CH and born 1995-2004. RESULTS: There were 3648 cases with CH giving an overall prevalence of 11.5 cases per 10,000 births. The large majority of cases were livebirths (3506, 96% of total) and only 17 cases were fetal deaths and 120 were terminations of pregnancy. Almost all livebirths were alive 1 week after birth. Boys accounted for 72% of all cases. A high proportion of the cases (86%) had an isolated renal malformation. There were large regional differences in prevalence of CH ranging from 2 to 29 per 10,000 births. There was little regional variation in the prevalence of postnatally diagnosed cases while there were large regional differences in prevalence of prenatally diagnosed cases. CONCLUSION: Cases with CH are mainly livebirths, boys and survive the first week after birth. The large difference in prevalence seems to be related to the availability of prenatal screening in the region. The impact of over-diagnosis and potential over-treatment in regions with high prevalence or under-diagnosis with implications for renal function later in life in regions with low prevalence needs further investigation.

Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome.

OBJECTIVE: To 'map' the current (2004) state of prenatal screening in Europe. DESIGN: (i) Survey of country policies and (ii) analysis of data from EUROCAT (European Surveillance of Congenital Anomalies) population-based congenital anomaly registers. SETTING: Europe. POPULATION: Survey of prenatal screening policies in 18 countries and 1.13 million births in 12 countries in 2002-04. METHODS: (i) Questionnaire on national screening policies and termination of pregnancy for fetal anomaly (TOPFA) laws in 2004. (ii) Analysis of data on prenatal detection and termination for Down's syndrome and neural tube defects (NTDs) using the EUROCAT database. MAIN OUTCOME MEASURES: Existence of national prenatal screening policies, legal gestation limit for TOPFA, prenatal detection and termination rates for Down's syndrome and NTD. RESULTS: Ten of the 18 countries had a national country-wide policy for Down's syndrome screening and 14/18 for structural anomaly scanning. Sixty-eight percent of Down's syndrome cases (range 0-95%) were detected prenatally, of which 88% resulted in termination of pregnancy. Eighty-eight percent (range 25-94%) of cases of NTD were prenatally detected, of which 88% resulted in termination. Countries with a first-trimester screening policy had the highest proportion of prenatally diagnosed Down's syndrome cases. Countries with no official national Down's syndrome screening or structural anomaly scan policy had the lowest proportion of prenatally diagnosed Down's syndrome and NTD cases. Six of the 18 countries had a legal gestational age limit for TOPFA, and in two countries, termination of pregnancy was illegal at any gestation. CONCLUSIONS: There are large differences in screening policies between countries in Europe. These, as well as organisational and cultural factors, are associated with wide country variation in prenatal detection rates for Down's syndrome and NTD.

Iowa's Barriers to Prenatal Care Project, July 2015

The findings in this summary are based on the Iowa Barriers to Prenatal Care project. Ongoing since 1991, the purpose of this project is to obtain brief, accurate information about women delivering babies in Iowa hospitals. Specifically, the project seeks to learn about women’s experiences getting prenatal or delivery care during their current pregnancy. Other information is included which may be pertinent to health planners or those concerned with the systematic development of health care services. This project is a cooperative venture of all of Iowa’s maternity hospitals, the University of Northern Iowa Center for Social and Behavioral Research, and the Iowa Department of Public Health. The Robert Wood Johnson Foundation funded the first three years of this project. The current funding is provided by the Iowa Department of Public Health. The Director is Dr. Mary Losch, University of Northern Iowa Center for Social and Behavioral Research. The Coordinator for the project is Rodney Muilenburg. The questionnaire is distributed to nearly ninety maternity hospitals across the state of Iowa. Nursing staff or those responsible for obtaining birth certificate information in the obstetrics unit are responsible for approaching all birth mothers prior to dismissal to request their participation in the study. The questionnaire takes approximately ten minutes to complete. Completed questionnaires are returned to the University of Northern Iowa Center for Social and Behavioral Research for data entry and analysis. Returns are made monthly, weekly, or biweekly depending on the number of births per week in a given hospital. Except in the case of a mother who is too ill to complete the questionnaire, all mothers are eligible to be recruited for participation. The present yearly report includes an analysis of large Iowa cities, frequencies by income, and a trend analysis of the last ten years. Also presented in this report is a frequency analysis of all variables included in the 2014 questionnaire. Unless otherwise noted, all entries reflect percentages. Please note that, because percentages were rounded, total values may not equal 100%. Data presented are based upon 2014 questionnaires received to date (n = 24,696). All analyses reflect unweighted percentages of those responding.

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990-2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ear anomalies and at least one major characteristic anomaly, was 3.8 per 100,000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder.