Routine fetal cardiac screening: what are we doing and what should we do?

In many countries, ultrasound examination is used in the second trimester to look for congenital malformations as part of routine prenatal care. While tertiary centres scanning high-risk pregnancies have reported a high degree of accuracy in the detection of congenital heart disease, many studies have shown that cardiac abnormalities are commonly overlooked during routine obstetric evaluation and there still remains a huge variation between centres. The majority of babies with congenital heart disease are born to mothers with no identifiable high-risk factors and so will not be detected unless there is widespread screening of the low-risk population. It is feasible to achieve widespread screening for fetal congenital heart disease in low-risk groups, but this does need commitment and effort from those performing the scans and those teaching them how to examine the heart. Staff performing routine obstetric ultrasound scans should learn a simple technique for examining the fetal heart and to use this in all patients. Links to a tertiary centre can provide support for checking scans of concern as well as for providing training and for obtaining feedback. In addition, an audit system needs to be established in each centre to trace false-positive and false-negative cases as well as to confirm true positives and true negatives. Copyright © 2004 John Wiley & Sons, Ltd.     

First-trimester prenatal diagnosis in haemophilia A and B families—10 years experience from a centre in India

During the last 10 years (1995–2005) we have offered diagnosis in 438 families out of 502 families referred, by chorionic villus sampling procedure between 10 and 12 weeks of pregnancy in severe haemophilia A and B families. Sixty four families could not be offered a diagnosis in the first trimester either due to non-informativeness with the available techniques or due to the absence of affected members in the family and were subsequently offered diagnosis in the second trimester by direct analysis of factor VIII/IX clotting activity and antigen in the fetal blood samples. For first-trimester diagnosis in the chorionic villus samples, we have used both direct and indirect methods, that is, intron 22 and 1 inversions in the factor VIII gene, a multiplex PCR for the detection of gross deletions in the factor IX gene and RFLP analysis using a battery of markers within and outside the factor VIII/IX gene. The informativeness of all these techniques was found to be 92.21% in case of haemophilia A and 83.91% in case of haemophilia B. We followed up 122 children out of 326 (diagnosed unaffected prenatally) after birth and the diagnosis was adequately reconfirmed by both factor assays and by DNA analysis. Only one case of misdiagnosis was detected so far (0.22%), where the diagnosis was based only on the extragenic marker of the factor VIII gene. Copyright © 2006 John Wiley & Sons, Ltd.     

Congenital nephrosis in low-risk pregnancies

Congenital nephrosis is an autosomal recessive disorder requiring neonatal renal transplant for survival. The postnatal diagnosis rests upon the electron microscopic evaluation of the epithelial foot processes and basal membrane of the glomeruli. The prenatal diagnosis can be suspected in the presence of a positive family history with an amniotic fluid (AF) alpha-fetoprotein level greater than 5 standard deviations (SD) above the population mean accompanied by a negative AF acetylcholinesterase, absent haemoglobin F, and an unremarkable fetal sonographic examination. We reviewed our series of seven cases of congenital nephrosis fulfilling the above criteria; four cases had negative family histories, and in two cases the diagnosis of congenital nephrosis was further supported by the presence of elevated AF albumin concentrations. We conclude that (1) the prenatal diagnosis of congenital nephrosis is feasible in a low-risk population, and (2) an elevated AF albumin concentration may represent an additional marker for the diagnosis of congenital nephrosis, even though false-negative results have been reported.     

Physicians' acceptability of termination of pregnancy after prenatal diagnosis in southern france

The acceptability of prenatal diagnosis for Down's syndrome has been extensively studied over the last 15 years but that of other pathologies remains largely unexplored. The main goals of this study were to approach physicians' opinions on six reasons for termination of pregnancy showing different deficiencies, i.e., Down's, Turner and Klinefelter syndromes, cystic fibrosis, spina bifida, and haemophilia, and to identify the origins of reserves. The influence of sociodemographic and professional characteristics of physicians on their opinions and attitudes during the consultation were studied. The data presented are based on information gathered in 1985 by a mailed questionnaire answered by 853 general practitioners, gynaecologists, obstetricians, and pediatricians in the Marseilles Genetic Centre's region. Stepwise logistic regression was used for the multivariate analysis. The results showed that 78 per cent of those answering favour termination of pregnancy for Down's syndrome and that only moral reticences were mentioned by the physicians opposed. Conversely, for haemophilia, only 21 per cent of the physicians considered this indication justified; those opposed were for the most part concerned that severity of illness did not justify termination of pregnancy. Overall, 33 per cent of physicians would voice their personal opinion on termination of pregnancy if so requested by consultees. Results on the influence of age and specialty evidenced their role on physicians' opinions. Indeed, 30 per cent of physicians opposed to pregnancy termination for one of the six fetal anomalies retained herein would modify their positions if diagnosis were possible in the first trimester of pregnancy.     

Fetal abdomino-perineal lymphangioma: differential diagnosis and management

Fetal lymphangiomas are rare congenital anomalies of the lymphatic system most commonly presenting in the head and neck. Cystic abdominal lymphangiomas are more rare with only a few cases reported prenatally. We report a case of a prenatally detected abdomino-perineal lymphangioma that mimicked the more fatal prenatally detected sacrococcygeal teratoma (SCT), which resulted in one caregiver suggesting termination of the pregnancy. This case demonstrates the importance of carefully considering the differential diagnosis of fetal abdomino-perineal masses when counseling parents. Copyright © 2006 John Wiley & Sons, Ltd.     

Towards informed decisions about prenatal testing: A review

There are now several well-documented psychological problems associated with prenatal testing programmes. These include poor understanding of tests undergone or declined, anxiety following false positive results, and false reassurance in those receiving negative test results. There is, as yet, little evidence concerning how to provide services to circumvent these. The focus of this review is upon just one of these problems: how best to inform women about prenatal testing and their reproductive options following the diagnosis of a fetal abnormality. Possible methods of improving informed decision-making either about whether to undergo testing or whether to terminate an affected pregnancy are described drawing upon research from antenatal and other health care areas. Future challenges for clinical practice and research in this area concern the range of conditions and predispositions for which prenatal testing with the option of termination should be offered.     

Assessment and management of fetal agenesis of the corpus callosum

Prenatal counselling for fetal agenesis of the corpus callosum is difficult as the prognosis until now has been so uncertain. We have reviewed the current world English literature to provide the best probabilistic information for prospective parents. In total, there are 70 cases where the diagnosis was made prenatally. The diagnosis of apparently isolated agenesis of the corpus callosum (in the absence of other sonographically detectable anomalies) appears to carry an excellent prognosis, with an 85 per cent chance of a normal developmental outcome and a 15 per cent risk of handicap. Fetal karyotyping is recommended as there is a 1 in 10 risk of aneuploidy. If other anomalies are detected prenatally, the outcome is very poor. Termination of pregnancy is advised in these circumstances.