Recent research

World J Pediatr. Feb;5(1):18-22.

Prenatal diagnosis and treatment planning of congenital heart defects-possibilities and limits.

Nelle M, Raio L, Pavlovic M, Carrel T, Surbek D, Meyer-Wittkopf M (2009)
Contact: Division of Neonatology, University Hospital Berne, Berne, Switzerland,

BACKGROUND: Newborns with hypoplastic left heart syndrome (HLHS) or right heart syndrome or other malformations with a single ventricle physiology and associated hypoplasia of the great arteries continue to be a challenge in terms of survival. The vast majority of these forms of congenital heart defects relate to abnormal morphogenesis during early intrauterine development and can be diagnosed accurately by fetal echocardiography. Early knowledge of these conditions not only permits a better understanding of the progression of these malformations but encourages some researchers to explore new minimally invasive therapeutic options with a view to early pre- and postnatal cardiac palliation.
DATA SOURCES: PubMed database was searched with terms of "congenital heart defects", "fetal echocardiography" and "neonatal cardiac surgery".
RESULTS: At present, early prenatal detection has been applied for monitoring pregnancy to avoid intrauterine cardiac decompensation. In principle, the majority of congenital heart defects can be diagnosed by prenatal echocardiography and the detection rate is 85%-95% at tertiary perinatal centers. The majority, particularly of complex congenital lesions, show a steadily progressive course including subsequent secondary phenomena such as arrhythmias or myocardial insufficiency. So prenatal treatment of an abnormal fetus is an area of perinatal medicine that is undergoing a very dynamic development. Early postnatal treatment is established for some time, and prenatal intervention or palliation is at its best experimental stage in individual cases.
CONCLUSION: The upcoming expansion of fetal cardiac intervention to ameliorate critically progressive fetal lesions intensifies the need to address issues about the adequacy of technological assessment and patient selection as well as the morbidity of those who undergo these procedures.

Reprod Health Matters. May;16(31 Suppl):82-9.

Decision-making after ultrasound diagnosis of fetal abnormality.

Bijma HH, van der Heide A, Wildschut HI (2008).
Contact: Department of Obstetrics and Gynaecology, Erasmus University Medical Centre, Rotterdam, Netherlands.

During the last few decades, the use of ultrasonography for the detection of fetal abnormalities has become widespread in many industrialised countries. This resulted in a shift in timing of the diagnosis of congenital abnormalities in infants from the neonatal period to the prenatal period. This has major implications for both clinicians and the couples involved. In case of ultrasound diagnosis of fetal anomaly there are several options for the obstetric management, ranging from standard care to non-aggressive care to termination of pregnancy. This essay explores the context of both clinical and parental decision-making after ultrasound diagnosis of fetal abnormality, with emphasis on the Dutch situation. While normal findings at ultrasound examination have strong beneficial psychological effects on the pregnant woman and her partner, the couple are often ill-prepared for bad news about the health of their unborn child in the case of abnormal findings. When parents consider end-of-life decisions, they experience both ambivalent and emotional feelings. On the one hand, they are committed to their pregnancy; on the other hand, they want to protect their child, themselves and the family from the burden of severe disability. These complex parental reactions have implications for the counselling strategy.

J Psychosom Obstet Gynaecol. Mar;28(1):37-4

Pregnancy interrupted: loss of a desired pregnancy after diagnosis of fetal anomaly.

McCoyd JL (2007).
Contact: Rutgers University, State University of New Jersey, School of Social Work, NJ 08102-1519, USA.

Prenatal diagnostic techniques both enable and force women and couples to make decisions about whether to continue a pregnancy where the fetus has an anomaly. Few studies have explored the decision-making and bereavement processes of women who terminate a desired pregnancy after the discovery of a fetal anomaly. This reports the qualitative results of a study designed to explore these processes while placing them within the context of the societal milieu. Findings are reported as themes that emerged from the 30 intensive interviews conducted with women at varying stages after this experience. These include mythical expectations based on denial that anomaly could occur, misconceptions about the nature of prenatal testing and inaccurate expectations about the experience and duration of grief. Further, the contradictory norms in society are defined as creating additional dilemmas for women as they attempt to gain support and understanding following their loss. Suggestions for how providers may assist women with their grief are incorporated.

Ultrasound Obstet Gynecol. Jan;25(1):6-11.

Prenatal diagnosis of severe structural congenital malformations in Europe.

Garne E, Loane M, Dolk H, De Vigan C, Scarano G, Tucker D, Stoll C, Gener B, Pierini A, Nelen V, Rösch C, Gillerot Y, Feijoo M, Tincheva R, Queisser-Luft A, Addor MC, Mosquera C, Gatt M, Barisic (2005).
Contact: A EUROCAT Working Group: University of Southern Denmark, Sdr Boulevard 23A, DK-5000 Odense C, Denmark.

OBJECTIVES: To assess at a population-based level the frequency with which severe structural congenital malformations are detected prenatally in Europe and the gestational age at detection, and to describe regional variation in these indicators.
METHODS: In the period 1995-1999, data were obtained from 17 European population-based registries of congenital malformations (EUROCAT). Included were all live births, fetal deaths and terminations of pregnancy diagnosed with one or more of the following malformations: anencephalus, encephalocele, spina bifida, hydrocephalus, transposition of great arteries, hypoplastic left heart, limb reduction defect, bilateral renal agenesis, diaphragmatic hernia, omphalocele and gastroschisis.
RESULTS: The 17 registries reported 4366 cases diagnosed with the 11 severe structural malformations and of these 2300 were live births (53%), 181 were fetal deaths (4%) and 1863 were terminations of pregnancy (43%); in 22 cases pregnancy outcome was unknown. The overall prenatal detection rate was 64% (range, 25-88% across regions). The proportion of terminations of pregnancy varied between regions from 15% to 59% of all cases. Gestational age at discovery for prenatally diagnosed cases was less than 24 weeks for 68% (range, 36-88%) of cases. There was a significant relationship between high prenatal detection rate and early diagnosis (P < 0.0001). For individual malformations, the prenatal detection rate was highest for anencephalus (469/498, 94%) and lowest for transposition of the great arteries (89/324, 27%). Termination of pregnancy was performed in more than half of the prenatally diagnosed cases, except for those with transposition of the great arteries, diaphragmatic hernia and gastroschisis, in which 30-40% of the pregnancies with a prenatal diagnosis were terminated.
CONCLUSION: European countries currently vary widely in the provision and uptake of prenatal screening and its quality, as well as the "culture" in terms of decision to continue the pregnancy. This inevitably contributes to variation between countries in perinatal and infant mortality and in childhood prevalence and cost to health services of congenital anomalies. Copyright (c) 2004 ISUOG.

Pediatrics. Jan;115(1):95-101.

Trends in prenatal diagnosis, pregnancy termination, and perinatal mortality of newborns with congenital heart disease in France, 1983-2000: a population-based evaluation.

Khoshnood B, De Vigan C, Vodovar V, Goujard J, Lhomme A, Bonnet D, Goffinet F (2005).
Contact: Paris Registry of Congenital Malformations, Epidemiological Research Unit on Perinatal and Women's Health, INSERM U149, Villejuif, France.

OBJECTIVE: To examine population-based overall and malformation-specific trends in the prenatal diagnosis, pregnancy termination, and perinatal mortality for congenital heart disease (CHD) during a period of rapid progress in prenatal diagnosis and medical management of CHD and to explore the impact of prenatal diagnosis on early neonatal mortality for specific (isolated) cardiac malformations.
METHODS: A total of 1982 cases of CHD, which were not associated with a known chromosomal anomaly, were obtained from the Paris Registry of Congenital Malformations. Main outcome measures were trends in the proportions diagnosed and terminated before birth, stillbirth, and early (<1 day, 1-week) neonatal mortality for (1) all cases; (2) all cases excluding isolated ventricular septal defects; and (3) malformation-specific trends for transposition of great arteries, hypoplastic left heart syndrome, coarctation of aorta, and tetralogy of Fallot. Analyses included cusum and binomial regression models for analysis of the trends during 1983-2000.
RESULTS: Prenatal diagnosis rates for CHD increased from 23.0% (95% confidence interval [CI]: 19.0-27.4) in 1983-1988 to 47.3% (95% CI: 43.8-50.8) in 1995-2000. Termination rates increased between 1983 and 1989 (9.9%; 95% CI: 7.2-13.2) and 1989 and 1994 (14.7%; 95% CI: 12.3-17.4) but seemed to remain stable thereafter. Other than for hypoplastic left heart syndrome, pregnancy termination was exceptional for the other 3 specific malformations examined. Early neonatal mortality decreased to less than one third in the period 1995-2000 as compared with 1983-1989 (risk ratio, first-week mortality: 0.31; 95% CI: 0.18-0.53). First-week mortality was significantly lower for cases of transposition of great arteries that were diagnosed before birth (risk difference: 15.4%; 95% CI: 4.0-26.7).
CONCLUSIONS: Progress in clinical management, together with policies for increased access to prenatal diagnosis, has resulted in both a substantial increase in the prenatal diagnosis and considerable reductions in early neonatal mortality of CHD in the Parisian population.

J Am Soc Echocardiogr. Feb;15(2):159-66.

Maternal psychological impact of fetal echocardiography.

Sklansky M, Tang A, Levy D, Grossfeld P, Kashani I, Shaughnessy R, Rothman A (2002).
Contact: Department of Pediatrics, Division of Pediatric Cardiology, University of California-San Diego, 200 W. Arbor Drive-8445, San Diego, CA 92103-8445, USA.

The maternal psychological impact of fetal echocardiography may be deleterious in the face of newly diagnosed congenital heart disease. This questionnaire-based study prospectively examined the psychological impact of both normal and abnormal fetal echocardiography. Normal fetal echocardiography decreased maternal anxiety, increased happiness, and increased the closeness women felt toward their unborn children. In contrast, when fetal echocardiography detected congenital heart disease, maternal anxiety typically increased, and mothers commonly felt less happy about being pregnant. However, among women who had recently delivered infants with congenital heart disease, those who had had fetal echocardiography during the pregnancy felt less responsible for their infants' defects and tended to have improved their relationships with the infants' fathers after the prenatal diagnosis of congenital heart disease. Further study of the psychological and medical impact of fetal echocardiography will be necessary to define and optimize the clinical value of this powerful diagnostic tool.

Obstet Gynecol. May;17(5):386-91.

Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries.

Garne E, Stoll C, Clementi M; Euroscan Group (2001).
Contact: Eurocat Registry of Funen County, University of Southern Denmark, Denmark.

OBJECTIVES: To evaluate prenatal diagnosis of congenital heart diseases by ultrasound investigation in well-defined European populations.
DESIGN: Data from 20 registries of congenital malformations in 12 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient routinely performed.
RESULTS: There were 2454 cases with congenital heart disease with an overall prenatal detection rate of 25%. Termination of pregnancy was performed in 293 cases (12%). There was considerable variation in prenatal detection rate between regions, with the lowest detection rates being in countries without ultrasound screening (11%) and in Eastern European countries (Croatia, Lithuania and Ukraine; 8%). In Western European countries with ultrasound screening, detection rate ranged from 19-48%. There was a significant difference in prenatal detection rate and proportion of induced abortions between isolated congenital heart disease and congenital heart disease associated with chromosome anomalies, multiple malformations and syndromes (P < 0.0001). There were 1694 cases with isolated congenital heart disease of which 16% were diagnosed prenatally. Malformations affecting the size of the ventricles were detected prenatally in half of the cases.
CONCLUSIONS: Prenatal detection rate of congenital heart disease varies significantly between countries even with the same screening recommendations. The presence of associated malformations significantly increases the prenatal detection rate.

Prenat Diagn. Apr;21(4):243-52.

Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe.

Stoll C, Garne E, Clementi M; EUROSCAN Study Group (2001).

Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996-1998, 709 030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into 'isolated' when only a cardiac malformation was present and 'associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20-24 weeks for the majority of associated cardiac defects. Copyright 2001 John Wiley & Sons, Ltd.

Ultrasound Obstet Gynecol. May;15(5):383-6.

Ultrasound screening in the 2nd trimester. The pregnant woman's background knowledge, expectations, experiences and acceptances.

Larsen T, Nguyen TH, Munk M, Svendsen L, Teisner L (2000).
Contact: Department of Ultrasound, Herlev Hospital, University of Copenhagen, Denmark.

OBJECTIVE: Ultrasound screening in the second trimester is widely used in maternal health care. To secure the pregnant woman's autonomy, it is essential to obtain information relating to her understanding and wishes as a starting point for the provision of information. The aim of the study was to explore the pregnant woman's background knowledge, expectations, experiences, and acceptances of second trimester ultrasound screening.
DESIGN: Five-hundred consecutive, unselected pregnant woman, of gestational age between 16 and 20 weeks were asked to fill in a questionnaire containing defined and open ended questions.
RESULTS: Approximately 70% of the women recruited had undergone a pregnancy-related ultrasound examination previously. Ninety percent answered that they had received information, either from the family doctor or as written material from the hospital (or both), concerning the purpose of the examination. Literature/newspaper/TV, family and friends played an important role as sources for general information. The pregnant women wished to undertake the ultrasound examination to ensure that the fetus was alive, healthy and without any malformation. Few answers were clinically irrelevant. The womens' expectations were fulfilled in 96% of cases, 86% felt 'more secure' after the examination while 2% did not have their expectations fulfilled. Only 0.8% felt more insecure after the examination. The vast majority of both pregnant women and their partners reported a positive experience from the event.
CONCLUSION: Pregnant women have a good knowledge of ultrasound examination although the quality of information could be improved. Expectations are fulfilled and are clinically relevant. The acceptability and experiences of the examination are very high.