The fetal circulation

Accumulating data on the human fetal circulation shows the similarity to the experimental animal physiology, but with important differences. The human fetus seems to circulate less blood through the placenta, shunt less through the ductus venosus and foramen ovale, but direct more blood through the lungs than the fetal sheep. However, there are substantial individual variations and the pattern changes with gestational age. The normalised umbilical blood flow decreases with gestational age, and, at 28 to 32 weeks, a new level of development seems to be reached. At this stage, the shunting through the ductus venosus and the foramen ovale reaches a minimum, and the flow through the lungs a maximum. The ductus venosus and foramen ovale are functionally closely related and represent an important distributional unit for the venous return. The left portal branch represents a venous watershed, and, similarly, the isthmus aorta an arterial watershed. Thus, the fetal central circulation is a very flexible and adaptive circulatory system. The responses to increased afterload, hypoxaemia and acidaemia in the human fetus are equivalent to those found in animal studies: increased ductus venosus and foramen ovale shunting, increased impedance in the lungs, reduced impedance in the brain, increasingly reversed flow in the aortic isthmus and a more prominent coronary blood flow. Copyright © 2004 John Wiley & Sons, Ltd.     

Isolation of fetal cells from transcervical samples by micromanipulation: Molecular confirmation of their fetal origin and diagnosis of fetal aneuploidy

Transcervical cell (TCC) samples have been shown to contain fetal cells amenable to molecular analysis. However, the presence of ‘contaminating’ maternal cells limits their use for prenatal diagnoses. In this report we show that clumps of fetal cells can be isolated from transcervical samples by micromanipulation and tested by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). Out of 129 clumps, isolated from mucus aspirates and transcervical lavages from 29 patients, 29 clumps from 11 patients were found to be exclusively of fetal origin as judged by the detection of chromosome 21-specific polymorphic DNA markers and Y-derived DNA sequences by PCR and FISH. One case of a male triploid fetus, diagnosed by the analysis of TCC samples obtained by mucus aspiration and lavage, was confirmed by testing clumps of cells isolated by micromanipulation.     

Invasive assessment of fetal renal abnormalities: urinalysis,fetal blood sampling and biopsy

There are a number of potential biochemcial markers that may have some role in predicting renal function postnatally. These include urinary sodium, calcium and β2‒microglobulin. The latter may also be measured in fetal serum. However, the accuracy of these parameters at a point in time is far from perfect as urinary tract obstruction is a progressive disease which may be best defined by repeated observations throughout pregnancy. Copyright © 2001 John Wiley & Sons, Ltd.     

New fetal cardiac imaging techniques

Rapid advances in graphics computing and micro-engineering have offered new techniques for prenatal cardiac imaging. Some of them can be non-invasively applied to both clinical and laboratory settings, including dynamic three-dimensional echocardiography, myocardial Doppler imaging, harmonic ultrasound imaging, and B-flow sonography. With clinical constraints, a few others have been mainly used in laboratories, such as endoscopic ultrasound, magnetic resonance imaging and biomicroscopy. Appropriate use and co-use of these new tools will not only provide unique information for better clinical assessment of fetal cardiac disease but also offer new ways to improved understanding of cardiovascular development and pathogenesis. Copyright © 2004 John Wiley & Sons, Ltd.     

Restrictive dermopathy and fetal behaviour

We report three siblings from consecutive pregnancies affected with restrictive dermopathy (RD). During the second pregnancy, fetal behavioural development and growth were studied extensively using ultrasound at 1–4 week intervals. Dramatic and sudden changes occurred in fetal body movements and growth but not until the end of the second trimester of pregnancy. Prominent at that time were prolonged periods of fetal quiescence and very low heart rate variability, together with abnormally executed body movements of short duration. Retarded femoral development and jerky abrupt fetal body movements (abnormal movement quality) were already present in the early second trimester of pregnancy. Facial anomalies emerged despite the presence of fetal mouth movements. The clinical features of RD were only partly explained by present knowledge of skin development and the fetal akinesia deformation sequence hypothesis. Quantitative assessment of fetal movements proved to be a poor early marker for antenatal diagnosis of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

Ultrasound screening for fetal abnormalities

Ultrasound screening for fetal abnormalities is increasingly becoming part of routine antenatal care in Europe and the UK. However, there has been very little formal evaluation of this practice. In this article reports of routine ultrasound screening are reviewed and the advantages and disadvantages discussed. The majority of routine anomaly scanning is done in the second trimester but there may be a case for screening at other times in pregnancy and alternative anomaly screening policies are discussed.     

Open fetal surgery for myelomeningocele

Despite efforts at prevention through the use of preconception folic acid, spina bifida remains one of the most common congenital anomalies of the central nervous system that is compatible with life. It is, however, associated with a significant degree of lifelong morbidity. The development of open fetal surgery for myelomeningocele (MMC) has been a long process but one that serves as a model for how new procedures and technologies need to be properly evaluated before being brought into mainstream medical practice. Even so, risks and benefits need to be evaluated for each patient. The currently available studies have been carried out on a highly selected patient population where the fetal findings provided the maximum opportunity for benefit from prenatal closure of the MMC defect. There is the potential that as the surgery becomes more widely available, pressure will be brought to bear to perform surgery in cases where the likelihood for benefit is decreased and yet the risks are not. The only way to duplicate the results of the current studies is to follow the methodology and criteria that were used in the studies. This will mean that not every fetus with an MMC will be a candidate for in utero surgery. The balance of risk to benefit will continue to evolve as further technological advances are evaluated and more follow-up information is obtained. Copyright © 2011 John Wiley & Sons, Ltd.     

Grief and mid-trimester fetal loss

Fetal loss through miscarriage or termination of pregnancy for genetic reasons often provokes the grief of bereavement. This is not fully understood, and the extent of the distress is often underestimated by professionals and family alike. We have examined elements of the normal bereavement process and have found that they may occur in specific and accentuated forms in mid-trimester fetal loss. We discuss our findings in the light of the attachment theory—a psychodynamic model for understanding grief reactions.     

The making of fetal surgery

Fetal diagnosis prompts the question for fetal therapy in highly selected cases. Some conditions are suitable for in utero surgical intervention. This paper reviews historically important steps in the development of fetal surgery. The first invasive fetal intervention in 1963 was an intra-uterine blood transfusion. It took another 20 years to understand the pathophysiology of other candidate fetal conditions and to develop safe anaesthetic and surgical techniques before the team at the University of California at San Francisco performed its first urinary diversion through hysterotomy. This procedure would be abandoned as renal and pulmonary function could be just as effectively salvaged by ultrasound-guided insertion of a bladder shunt. Fetoscopy is another method for direct access to the feto-placental unit. It was historically used for fetal visualisation to guide biopsies or for vascular access but was also abandoned following the introduction of high-resolution ultrasound. Miniaturisation revived fetoscopy in the 1990s, since when it has been successfully used to operate on the placenta and umbilical cord. Today, it is also used in fetuses with congenital diaphragmatic hernia (CDH), in whom lung growth is triggered by percutaneous tracheal occlusion. It can also be used to diagnose and treat urinary obstruction. Many fetal interventions remain investigational but for a number of conditions randomised trials have established the role of in utero surgery, making fetal surgery a clinical reality in a number of fetal therapy programmes. The safety of fetal surgery is such that even non-lethal conditions, such as myelomeningocoele repair, are at this moment considered a potential indication. This, as well as fetal intervention for CDH, is currently being investigated in randomised trials. Copyright © 2010 John Wiley & Sons, Ltd.     

Thermocoagulation of fetal sacrococcygeal teratoma

Fetal sacrococcygeal teratoma can lead to a high output cardiac failure resulting in hydrops fetalis. One of the prenatal therapeutic options is to occlude the feeding vessels by radiofrequency ablation. We present a case of fetal sacrococcygeal teratoma diagnosed at 13 weeks of gestation. The tumour increased in size more than 100-fold over 5 weeks causing polyhydramnios and cardiac and placental enlargement. Thermocoagulation was performed at 18 weeks' gestation by passing an insulated electric wire through an 18-gauge needle placed close to the feeding vessels of the tumour at its neck. Blood supply to the tumour was successfully reduced. However, fetal death was diagnosed 2 days after the procedure. We speculate that it may be safer to limit the extent of coagulation in one attempt but to repeat the procedure at a later stage when necessary. Copyright © 2002 John Wiley & Sons, Ltd.