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.     

Management of fetofetal transfusion syndrome

Feto-fetal transfusion syndrome contributes heavily to high rates of perinatal mortality and morbidity in monochorionic multiple pregnancies. Its prenatal management has been controversial for at least 25 years. We review the recent literature in order to present the basis for a pragmatic reappraisal of the management of this condition. Laser surgery of the chorionic plate inter-twin anastomoses is the best first-line treatment when the syndrome develops before 26 weeks' gestation. Survival (including quality of survival) and gestational age at delivery are improved when compared to serial amnioreduction. Second-line treatment options include repeat-laser, intra-uterine blood transfusion, serial amnioreduction, selective feticide using bipolar cord coagulation or elective delivery, depending upon gestational age and the severity of the disease and its complications. We have found that fetoscopic placental surgery has proven itself over simplicity of amnioreduction. There is no evidence that treatment should be customized according to the stage of the disease at diagnosis. Early recognition of the syndrome through fortnightly serial ultrasound follow-up of all monochorionic pregnancies should ensure timely referral and make up for geographical constraints. Laser surgery should now be available in fetal medicine units that are managing at least 20 cases per year. Copyright © 2005 John Wiley & Sons, Ltd.     

Amniotic band syndrome in second trimester associated with fetal malformations

The Possibility of severe fetal malformations, including neural tube defects, secondary to early amniotic rupture followed by formation of fibrous bands (amniotic band syndrome) is a well-known entitity. The fact that these pregnancies are usually uneventful makes prenatal diagnosis difficult, but routine determination of serum alphafetoprotein, followed by ultrasound scanning, may detect some of the malformations. We present a case, where detection of a neural tube defect led to induced second trimester abortion of a fetus severely affected by this syndrome. There appeared to be a causal relationship between maternal trauma and the amniotic rupture.     

Placental MRI and its application to fetal intervention

Objective

Magnetic resonance imaging (MRI) of placental invasion has been part of clinical practice for many years. The possibility of being better able to assess placental vascularization and function using MRI has multiple potential applications. This review summarises up-to-date research on placental function using different MRI modalities.

Method

We discuss how combinations of these MRI techniques have much to contribute to fetal conditions amenable for therapy such as singletons at high risk for fetal growth restriction (FGR) and monochorionic twin pregnancies for planning surgery and counselling for selective growth restriction and transfusion conditions.

Results

The whole placenta can easily be visualized on MRI, with a clear boundary against the amniotic fluid, and a less clear placental-uterine boundary. Contrasts such as diffusion weighted imaging, relaxometry, blood oxygenation level dependent MRI and flow and metabolite measurement by dynamic contrast enhanced MRI, arterial spin labeling, or spectroscopic techniques are contributing to our wider understanding of placental function.

Conclusion

The future of placental MRI is exciting, with the increasing availability of multiple contrasts and new models that will boost the capability of MRI to measure oxygen saturation and placental exchange, enabling examination of placental function in complicated pregnancies.     

Alpha-fetoprotein in fetal serum,amniotic fluid,and maternal serum

In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data confirm earlier findings on second-trimester fetal serum AFP concentration. The results indicate that low maternal serum AFP in pregnancies with fetal chromosomal disorders could result from an impaired fetal kidney function as well as from impaired membrane or placental passage of AFP, rather than from reduced fetal AFP production.     

Normal second-trimester amniotic fluid alphafetoprotein and acetylcholinesterase associated with fetal sacrococcygeal teratoma

Amniocentesis was performed at 19 weeks' gestation on a patient with two sequential serum alphafetoprotein values above 2 times median. Ultrasound examination suggested a possible sacrococcygeal teratoma. However, both amniotic fluid alphafetoprotein and acetylchol-inesterase were normal, and the patient elected to continue her pregnancy. At 24 weeks fetal demise was confirmed, and prostaglandin induction of labour produced a macerated female fetus with a large sacrococcygeal teratoma.     

In utero therapy for lower urinary tract obstruction

Lower urinary tract obstruction has a significant impact on neonatal and child health. Pulmonary hyperplasia and renal impairment could be direct or indirect consequences of this condition leading to significant morbidity and mortality. Evaluation of fetuses with suspected lower urinary tract obstruction is performed not only to confirm the diagnosis but also to assess renal prognosis. Ultrasound examination and urinary analysis aid in the evaluation of these fetuses. The decision to perform fetal intervention in these cases is a difficult one. Vesico‒amniotic fetal shunting, open fetal surgery and more recently endoscopic fetal surgery for this condition are available as possible modalities of fetal intervention. Case selection for fetal intervention is extremely important in order to both avoid unnecessary intervention in those unlikely to survive, and also to avoid procedure related complications in fetuses likely to do well without intervention. Vesico‒amniotic shunting has the advantage of bypassing the obstruction, however it is often associated with complications. Open fetal surgery is not usually recommended because of the complications and high fetal loss rate. Endoscopic surgery to visualise and treat the cause of lower urinary tract obstruction has been tried. Fetal endoscopic surgery is in its infancy and endoscopic procedures are limited to a few groups. This current review addresses evaluation, case selection and therapeutic options for lower urinary tract obstruction in utero. It also discusses the limited data against which the efficacy of the various options can be assessed. The current state of fetal intervention is detailed in the present review. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal incision of ureterocele causing bladder outlet obstruction: a multicenter case series

We reviewed data from a cohort of fetuses with ureterocele diagnosed and operated prenatally in four fetal therapy centers. Inclusion criteria were (1) ureterocele confirmed on detailed fetal ultrasound examination, (2) absence of additional fetal malformations, and (3) fetal intervention to decompress the ureterocele with local institutional review boards' approval. Data on sonographic follow-up, obstetrical, neonatal outcome, and postnatal evaluation were collected. Ten cases of prenatally treated ureterocele are described. Six cases benefited from a fetoscopy for laser incision and decompression, two cases had an ultrasound guided puncture before resorting to a fetoscopy with laser incision, one case had a balloon catheterization under ultrasound guidance, and one case had an ultrasound-guided opening of the ureterocele with a laser fiber passed through a 20-gauge needle. Mean gestational age at diagnosis was 21.6 GW. Two cases underwent termination of pregnancy. The remaining eight cases recovered normal amniotic fluid volume and delivered a liveborn child at a mean gestational age of 38.6 GW with normal creatinine levels during the first week of life. Prenatal incision provided complete treatment of severely obstructive ureteroceles in 80% of the cases and allowed improvement of urinary electrolytes, renal size and echogenicity, bladder filling in all survivors, and recollection of normal amniotic fluid volume, in case of oligoanhydramnios. © 2017 John Wiley & Sons, Ltd.     

Sub-lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis in two consecutive pregnancies

Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia mapping to 16q23–q24. We showed recently that it is part of a pleiotropic syndrome likely to display pseudohyperkalemia and/or different forms of fetal and placental fluid collections. Here, we report a woman with DHS. She had two consecutive pregnancies associated with severe fetal hydrops. Hydrops would probably have been lethal in the absence of appropriate removal of ascites and excess amniotic fluid. In utero exchange transfusion, performed once, was useless, because anemia was not pronounced enough to be the cause of the hydrops. In both newborns, ascites resolved within a week following birth and never recurred. The association of hydrops and hemolytic anemia suggests the possibility of DHS. Symptomatic treatment of the hydrops assists survival until spontaneous resorption occurs. Copyright © 2003 John Wiley & Sons, Ltd.     

Amniotic band syndrome causing fetal head deformity

Amniotic band syndrome is a rare cause of fetal head deformity. We report a case in which antenatal ultrasound in the first half of pregnancy indicated the presence of a fetal cranial deformity, reported as either anencephaly or encephalocele. At assessment autopsy, disruption of the fetal skull was associated with amniotic band formation. Appropriate genetic counselling can be offered to such patients only when detailed pathological examination of the aborted fetus is made. The recurrence rate of amniotic band syndrome does not warrant amniocentesis in a subsequent pregnancy.     

Selective intrauterine growth restriction in monochorionic diamniotic twin pregnancies

Selective intrauterine growth restriction (sIUGR) occurs in 10 to 15% of monochorionic (MC) twins, and it is associated with a substantial increase in perinatal mortality and morbidity. Clinical evolution is largely influenced by the existence of intertwin placental anastomoses: pregnancies with similar degrees of fetal weight discordance are associated with remarkable differences in clinical behavior and outcome. We have proposed a classification of sIUGR into three types according to umbilical artery (UA) Doppler findings (I-normal, II-absent/reverse end-diastolic flow, III-intermittent absent/reverse end-diastolic flow), which correlates with distinct clinical behavior, placental features and may assist in counseling and management. In terms of prognosis, sIUGR can roughly be divided in two groups: type I cases, with a fairly good outcome, and types II and III, with a substantial risk for a poor outcome. Management of types II and III may consist in expectant management until deterioration of the IUGR fetus is observed, with the option of cord occlusion if this occurs before viability. Alternatively, active management can be considered electively, including cord occlusion or laser coagulation. Both therapies seem to increase the chances of intact survival of the larger fetus, while they entail, or increase the chances of, intrauterine demise of the IUGR fetus. Copyright © 2010 John Wiley & Sons, Ltd.     

Ultrasonic placental localization in relation to spontaneous abortion after mid-trimester amniocentesis

This paper summarizes our experience with a series of 562 women referred for mid-trimester amniocentesis for prenatal diagnosis. Ultrasonography was utilized for placental localization. Follow-up revealed a fetal loss rate of 3.03 per cent with 1.96 per cent being spontaneous abortions. Patients with an anterior placenta had a fetal loss and spontaneous abortion rate of 4.06 per cent and 3·05 per cent, respectively. No significant difference in the incidence of fetal loss (p > 0·1) or spontaneous abortion (p > 0·5) was found in patients having an anterior versus a posterior placenta. Neither multiple insertions through an anterior placenta nor blood contaminated amniotic fluid from patients with an anterior placenta were associated with an increased incidence of fetal loss or spontaneous abortion.     

In utero therapy for fetal thoracic abnormalities

Fetal thoracic lung anomalies are rare. The specific diagnosis can be made by utilizing ultrasound, magnetic resonance imaging (MRI), and Doppler studies. Perinatal surveillance is required for large lesions and mediastinal shift regardless of the pathological diagnosis. These can cause physiological changes in the cardiovascular system with resulting hydrops. In utero therapies are variable but with no large randomized trials to compare risks and benefits. In most cases of fetal lung lesions, continued observation with postnatal therapy is the outcome. When fetal hydrops is present or impending, in utero fetal therapy is required to try to reverse that pathological course associated with fetal or neonatal death. Maternal morbidity is increased with the development of MIRROR syndrome following the presence of long-standing fetal hydrops and possible surgical procedures. Copyright © 2008 John Wiley & Sons, Ltd.     

Maternal serum alpha-fetoprotein and fetal triploidy

Fetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid acetylcholinesterase (ACHE), fetal pathology, and placental pathology in sex second-trimester pregnancies complicated by fetal triploidy. Four of these patients had MSAFP values greater than 7.5 multiples of the median (MoM). Five of six pregnancies had MSAFP values greater than 2.25 MoM. All five of these patients had a partial mole. Four patients had amniotic fluid AFP values greater than 2.0 MoM. Two fetuses had associated neural tube defects. These were the only patients with positive amniotic fluid ACHE. None of the other patients had fetuses with anomalies that are known to be associated with an elevated MSAFP. The elevated MSAFP appeared to be related to the presence of a partial mole. Two of the five cases with an MSAFP greater than 2.25 MoM did not have sonographic evidence of a significant anomaly. Therefore, karyotyping can be of benefit in evaluating patients with elevated MSAFP.     

Identification of acetylcholinesterase and cholinesterase in amniotic fluid by immune absorption technique

A method for immunological detection of acetylcholinesterase (AChE) and cholinesterase (ChE) in amniotic fluid is described. By addition of a small amount of antihuman-erythrocyte membrane antibody or anti-pseudocholinesterase antibody to the sample before electrophoresis the two esterase bands on polyacrylamide gel (PAG) can be absorbed away. Similar staining results can also be obtained by specific inhibition of the two esterases with either BW 284C51 (AChE inhibitor) or Lysivane (ChE inhibitor). In cases with a faint AChE band and in cases with blood contamination the immune absorption technique makes interpretation easier. Nearly identical staining results have been obtained by the immune absorption technique and the inhibition technique in the following samples with an AChE band: 34 samples from pregnancies with severe fetal malformation or intrauterine death (2 cases), 4 fetal serum samples, 4 samples of cerebrospinal fluid, 4 samples of fetal erythrolysate and 4 samples of adult erythrolysate. It can be concluded that an antibody prepared against erythrocyte AChE cross-reacts with AChE in cerebrospinal fluid, and that this antibody can be used for demonstration of AChE in amniotic fluid.     

Severe early-onset fetal growth restriction: What do we tell the prospective parents?

Fetal growth restriction (FGR) is a common complication of pregnancy, associated with higher risk of perinatal mortality and adverse health and developmental outcomes for surviving infants. True FGR relates to a pathological restriction of fetal growth resulting from complex interactions between maternal, placental, fetal, and environmental factors. Early-onset FGR (onset <32 weeks' gestation) is often first suspected at routine mid-trimester sonographic assessment of fetal morphology, or identified as part of the placental syndrome, commonly maternal pre-eclampsia. Prenatal investigations may identify the cause of FGR. Timing of delivery is guided by serial sonographic surveillance of fetal growth and well-being and maternal condition, balancing the risk of stillbirth with the benefits of advancing gestation. This is particularly pertinent to severe early-onset FGR, a leading iatrogenic cause of very preterm birth. Prognosis is largely determined by the severity of FGR and its causes, gestation at birth, and birthweight. Pregnancy termination may be considered. Antenatal care and delivery in a tertiary center, provided by a multi-disciplinary team with expertise in managing high-risk pregnancies, are imperative to optimizing outcomes.     

Artificial instillation of amniotic fluid as a new technique for the diagnostic evaluation of cases of oligohydramnios

In cases of severe oligohydramnios, sonographic diagnosis is hampered by poor visibility and by increased fetal flexion. Therefore, 74 artificial instillations of amniotic fluid were performed in 50 pregnancies by sonographic guidance. Fetal diseases included Potter's syndrome, obstructive uropathy, cystic kidneys (20 cases); Meckel's syndrome, C. de Lange syndrome, cytomegaly fetopathy (1 case each); VATER association (2 cases); triploidy (5 cases); severe intrauterine growth retardation (8 cases); and premature rupture of membranes (12 cases). By improved sonographic visibility and the observation of fetal behaviour (drinking, filling of stomach and bladder, voiding of bladder after artificial instillation of amniotic fluid), the fetal anatomy could be studied more accurately, malformations could be identified or excluded, and bladder function could be examined. Thus, differentiation between fetuses without functioning kidneys and those with severe intrauterine growth retardation becomes possible. Further, re-aspiration on the day following instillation permitted determination of the karyotype. Finally, the artificial instillation of amniotic fluid is a hazardous intervention (rupture of membranes, labour) and should be reserved only for a small number of selected cases with diagnostically unclear oligohydramnios. For these cases, it seems to be the method of choice permitting a variety of diagnostic information to be obtained.     

Chromosomal prenatal diagnosis: Study of 936 cases of intrauterine abnormalities after ultrasound assessment

Nine hundred and thirty-six prenatal chromosomal analyses were performed by four cytogenetic centres after ultrasound diagnosis of fetal abnormalities, amniotic fluid disorders, fetal growth retardation, and fetal or placental abnormalities. During the same period, 6515 fetal karyotypes were analysed because of maternal age. Frequencies of chromosomal aberrations in each case were respectively 4·4, 6·7 and 15·8 per cent, compared with 3·18 per cent when the fetal karyotype was performed because of maternal age. High rates of chromosomal aberrations are observed in cases of cervical hygroma, limb abnormalities, omphaloceles, duodenal stenosis, hydrocephalus, and facial abnormalities. In the case of polymalformations, this rate was 29·2 per cent. When malformations were seen together with an amniotic fluid disorder or growth retardation, 21·5 per cent chromosomal aberrations were observed. This frequency was 10·4 per cent when growth retardation was associated with an amniotic fluid disorder. Trisomy 13, 18, 21 and monosomy X accounted for 4/5 of all abnormalities in which we observed a high rate of triploidies (4·9 per cent) and balanced (3·3 per cent) or unbalanced (9·8 per cent) non-Robertsonian structural abnormalities. Sonographic ascertainment of these aberrations and prenatal characteristics of major anomalies are discussed.     

Long-term outcome after intrauterine laser treatment for twin–twin transfusion syndrome

Twin–twin transfusion syndrome (TTTS) is a severe complication occurring in about 10% of monochorionic twin pregnancies. The chronic unbalanced transfusion of blood across placental vascular communications from the donor to the recipient twin may lead to impairment of various organ systems in the affected twins. In Hamburg, Germany, since 1995 patients with TTTS were treated with fetoscopic laser coagulation as the first causal therapeutic strategy. All survivors after laser surgery were followed up in the University Children's Hospital in Bonn, Germany. In this article, we summarize long-term follow-up studies from our German study population and compare our results with data from the literature. Copyright © 2011 John Wiley & Sons, Ltd.     

Fetal surgery for severe lower urinary tract obstruction

Fetal interventions have been proposed for treatment of severe lower urinary tract obstruction (LUTO), as this condition is associated with high rates of perinatal mortality and postnatal renal impairment. The rationale for in utero treatment for those cases is based on the possibility of relieving the obstruction, improving the amniotic fluid volume, and preventing renal and bladder damage. Candidates for fetal intervention should be rigorously selected based on the confirmation of severe LUTO (dilated bladder and bilateral hydronephrosis), oligohydramnios or anyhydramnios and ‘favorable’ fetal urinalysis (dependent on gestational age). Nowadays there are two different therapeutic options with specific technical approaches. Vesico-amniotic shunting is an easier procedure, but with a higher frequency of related complications. Fetal cystoscopy can be used for diagnostic purpose and for treatment of posterior urethral valves, with suggestive advantage of allowing a more physiological release of the obstruction. According to the literature, estimated survival rates and postnatal normal renal function frequencies are approximately 40 and 50% after vesico-amniotic shunting and 75 and 65% after fetal cystoscopy, respectively. Copyright © 2011 John Wiley & Sons, Ltd.