Parental experiences after prenatal diagnosis of fetal abnormality

For many pregnant women, prenatal testing is a routine component of contemporary pregnancy care. Receiving a prenatal diagnosis is frequently associated with intense feelings of shock and grief; the extent of which may be unrelated to the pregnancy gestation or the condition diagnosed. During this time of crisis, parents are often faced with important choices about their pregnancy. Levels of understanding and experiences of professional support throughout this time likely impact decisions that are made and how they are subsequently perceived. Despite considerable advances in prenatal testing technologies over the last 20 years there is a paucity of research examining parental experiences in-depth. Future advances such as prenatal exome sequencing will further increase the scope of prenatal testing and numbers of parents who receive a prenatal diagnosis. It is imperative that large-scale studies are performed to ensure that protocols are in place to adequately support couples at this time.     

Palliative care for prenatally diagnosed lethal fetal abnormality

Diagnosis of lethal fetal abnormality raises challenging decisions for parents and clinicians. Most parents opt for termination, which may include feticide. Advances in imaging seem unlikely to lead to earlier diagnoses. Perinatal palliative care offers an alternative. Parental decision making and the clinical aspects of perinatal palliative care were studied after a prenatal diagnosis of lethal fetal abnormality in 20 pregnancies. 40% of parents chose to continue the pregnancy and pursue perinatal palliative care. Six of these eight babies were liveborn and lived for between 1(1/2) h and 3 weeks.     

Reasons for trisomy 13 or 18 births despite the availability of prenatal diagnosis and pregnancy termination

BACKGROUND: Few studies have evaluated the reasons why lethal chromosomal anomalies continue to occur despite the importance of this question for maximizing perinatal care. AIMS: To determine why trisomy 13 or 18 births continue to occur in Alaska. STUDY DESIGN: Case series involving review of maternal and infant medical records. SUBJECTS: All 28 known infants and fetuses that died with trisomy 13 or 18 during 1992-2001 and their mothers. OUTCOME MEASURES: The proportion of mothers that declined or received a variety of routine prenatal tests, the results of prenatal testing, and the impact of testing on decisions related to pregnancy. RESULTS: Seventeen women declined pregnancy termination or amniocentesis, 10 had no prenatal risk factors and were not offered these procedures, and one woman had an amniocentesis but was not offered pregnancy termination. Twenty-six women had >/=1 prenatal ultrasounds; for 17 women, these were interpreted as normal throughout pregnancy (n=11) or until after 30 weeks gestation (n=6) despite substantial fetal malformations. Fourteen of 15 women with an abnormal ultrasound had an amniocentesis compared to one of eight women whose only risk factor was advanced maternal age. CONCLUSIONS: Most trisomy 13 or 18 deliveries occurred to women who declined amniocentesis or pregnancy termination. Failure to identify abnormalities on prenatal ultrasound may have contributed to the decision not to have these procedures.     

Ultrafast fetal MRI and prenatal diagnosis

Improvements in magnetic resonance imaging (MRI) technology continue to provide faster scan times and higher resolution increasing the applications for fetal imaging. MRI is an adjunct to good prenatal ultrasound scan (US). It provides significant additional information that improves diagnostic accuracy in evaluation of the fetal brain, spine, neck, chest, abdomen, and urinary tract. MRI provides important anatomic information that helps in planning delivery and surgical procedures.     

The status of prenatal diagnosis and fetal surgery

The last two decades have witnessed the revolutionary development and clinical application of several techniques for prenatal diagnosis of fetal abnormalities. Amniocentesis has helped to establish the diagnosis of major chromosomal and inherited metabolic disorders. Sonography has identified congenital malformations incompatible with life and has permitted the early diagnosis of correctable congenital malformations. Antenatal knowledge of these abnormalities can potentially decrease neonatal morbidity and mortality because the appropriate preparations can be made in advance of the delivery. The International Fetal Surgery Registry of 1985 reported 73 cases of fetal obstructive uropathy treated by in utero placement of a chronic vesico-amniotic shunt. No relationship could be demonstrated between survival and amniotic fluid volume or fetal age at diagnosis or treatment. Twenty-seven of 29 deaths were reportedly due to pulmonary hypoplasia. The data strongly suggests the need to develop a test that evaluates fetal pulmonary status. The registry data on 41 cases of hydrocephalic fetal decompression were reviewed. Survival was 83%, however 54% of cases survived with a moderate to severe handicap. No relationship between duration of shunt placement and outcome could be determined. The outcome data was difficult to interpret. No conclusions were made or implied concerning whether or not these fetuses were actually benefited by the procedure. Fetal surgery can be performed with an acceptable procedure —related mortality and morbidity. As of this date, we can not conclude that in utero fetal surgery has improved survivor morbidity. The registry data points to the need for controls and for a properly designed prospective study.     

Non-invasive prenatal diagnosis and determination of fetal Rh status

RhD blood group incompatibility between a pregnant woman and her fetus can result in maternal alloimmunization and consequent haemolytic disease of the newborn (HDN) in subsequent pregnancies. The D-negative blood group is found in 15% of whites, 3-5% of black Africans, and is rare in Asians. Recent technological advances in non-invasive prenatal determination of the fetal RHD status using cell-free fetal DNA (cffDNA) have opened new avenues for the management of D-negative pregnant women. In this review applications for the high risk women, as well as potential for routine screening will be discussed. The use of non-invasive prenatal diagnosis and the management of other blood incompatibilities will also be discussed.     

Early integration of pediatric palliative care: for some children, palliative care starts at diagnosis

PURPOSE OF REVIEW: Pediatric palliative care, with its emphasis on symptom management and quality of life, is an important aspect of care of children with life-threatening illnesses. We review recent publications with implications for care of these children. RECENT FINDINGS: Invasive and life-sustaining measures continue to be part of care for many children with life-threatening illnesses, even at the end of life. While these measures may seem reasonable when recovery is possible, they may not fit with a family's preferences for end-of-life care. One possible cause of the prevalence of invasive measures in children at the end of life is that complex illness trajectories in children make it difficult to predict the timing of death. Inadequate communication by clinicians can also lead to poor preparation for the end-of-life period. Early integration of palliative care allows for improved symptom management, parental adjustment, and preparation for the end-of-life care period. Families who have the opportunity to prepare for the end-of-life period, including learning what to expect, are more likely to feel that their care has been of high quality. Bereaved parents also recognize the value of talking about death with their children. SUMMARY: Early integration of palliative care can allow children and families to make decisions about care that fit with their values, and should become a standard of care for all children with life-threatening illnesses.     

Antenatal diagnosis of fetal abnormality by ultrasonic real time scanner.

Recent progress in antenatal diagnosis has made it possible to detect most fetal malformations which can be treated and cured by neonatal surgery. In this study an analysis of antenatal diagnosis by ultrasonography in the author's clinic is reported.     

Pregnancy termination following prenatal diagnosis of serious heart disease in the fetus

BACKGROUND AND AIMS: The fetal diagnosis of complex congenital heart disease (CHD) leads to a crisis for the affected couple. How much more so when a decision is made to terminate the pregnancy? In making that decision do the parents understand the anomaly, its consequences and possible outcome and does that information influence their decision process? METHODS AND SUBJECTS: Questionnaires were developed. They were forwarded to parents seen in a private obstetric ultrasound practice, diagnosed with, or specifically referred, because of the diagnosis of a complex cardiac anomaly in the fetus. The diagnosis was subsequently confirmed by ultrasound examination in the presence of a paediatric cardiologist, in all but one patient. Once confirmed, both the obstetric ultrasonologist and cardiologist explained the anomaly, both working off each other, the obstetrician acting as the parent's advocate, asking and "demanding" explanations in lay terms, clarifying the nature of the anomaly, its possible consequences in the newborn and childhood, the need for intervention, and the short- and long-term risks, concentrating on quality of life issues. The parents were given the opportunity to meet with the cardiologist separately to clarify the diagnosis and management, before coming to a final decision to continue or terminate the pregnancy. RESULTS: Over a 3-year period, 40 such patients were included in the study, of which 13 opted for termination. The anomalies were complex and included hypoplastic left heart syndrome, univentricular heart and atrioventricular septal defect. The three autopsies carried out confirmed the prenatal diagnosis.Completed questionnaires were received from nine couples, two being lost to follow up and two refusing to complete the questionnaire despite telephone contact. All nine responses stated the explanation given was "very clear" or "clear", the detail covered was "just right", and their understanding of the diagnosis was "good " to "excellent". Eight stated they were very distressed following the diagnosis, and seven experienced great difficulty in arriving at a decision. In contrast, two stated that the decision was "easy" or "very easy". The reasons for termination included concern for the welfare of the affected child, other siblings in the family and because of the distress of the parents themselves. Intellectual disability was given as an additional reason in the three who had associated chromosomal abnormalities. CONCLUSIONS: Although the numbers were small, it would appear that the above approach used by an obstetric ultrasonologist and cardiologist, working together, explaining complex congenital heart disease in lay terms and focusing on the need for intervention, functional outcome and quality of life issues, provided the parents with a reasonable understanding of the anomaly. Nevertheless, the decision to terminate, very difficult for nearly all the couples, seemed to be based on the perceived distress of the affected infant/child, the siblings and parents themselves. While three couples were grateful for an opportunity to respond, two refused, suggesting the need for more detailed follow up and support for those parents who decide to terminate an apparently wanted pregnancy.     

Large fetal ovarian cyst: prenatal diagnosis and treatment

A female infant with a large ovarian cyst is presented. This was the first case diagnosed antenatally and operated upon in a Hong Kong Chinese. A review of the literature is made and the underlying reasons for the discrepancies in incidence in various countries are discussed. Correspondence to: A. K. Y. Lam     

The role of fetal blood sampling in prenatal diagnosis.

Fetal blood sampling via cordocentesis is being used with increased frequency. In our clinic, 125 fetal blood samplings (109 patients) have been performed for evaluation of a variety of clinical situations. Our experience confirms the efficacy of the procedure and suggests that it may be an important tool for fetal assessment.     

Citrullinemia type 1: Genetic diagnosis and prenatal diagnosis in subsequent pregnancy

Citrullinemia type 1 was diagnosed by tandem mass spectrometry in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. Both parents were identified to be carriers for the exon 15 p Gly390Arg mutation in the argininosuccinate synthetase gene located at chromosome 9q34.1. Chorionic villus sampling and prenatal genetic testing in the subsequent pregnancy revealed an affected fetus resulting in termination of pregnancy.     

Callosal agenesis followed postnatally after prenatal diagnosis

Callosal agenesis is a congenital brain anomaly caused by embryonal hypogenesis of the corpus callosum. Concerning the neurological prognosis, epilepsy and motor disturbance are noted in some cases, while many cases are asymptomatic and the prognosis is good. We report a fetus tentatively diagnosed with hydrocephaly on prenatal echo-encephalography, which was performed without adequate explanation to and understanding of the parents. The parents had not expected an abnormality before the screening, and were subsequently not psychologically prepared for the discovery of the congenital brain anomaly on imaging. Moreover, they received no guidance on how to deal with any possible abnormalities. The pregnant mother was referred to our hospital. Prenatal MRI was performed after informed consent was obtained, and the fetus was diagnosed with callosal agenesis. The patient was followed for 5 years, and neurological development was normal. However, the parents have remained anxious while raising the child. Thus, the prenatal diagnosis of callosal agenesis in this case caused unnecessary mental burden to the parents. Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test.