Fetal cardiopathies. Balance of 7 years of consistent screening at the maternity unit of the Pontarlier hospital

The authors carry out a retrospective analysis of the cases of fetal heart disease reported in a maternity clinic since 1983. Sixty-nine percent of these cases were detected by ultrasound during pregnancy. There were no malformations in a fetus of the "high-risk" mother. The early care given to malformed neonates does not appear to have improved their vital and/or post-operative prognosis. Early diagnosis of serious malformations should lead to a greater number of voluntary terminations of pregnancy.     

Intravaginal echography at the beginning of pregnancy]

Endocavity ultrasound during the first three months of pregnancy provides greater detail in a number of obstetrical fields. In most cases, endocavitary ultrasound is not simply a way of "gaining time" in comparison with conventional transabdominal ultrasound (time saved estimated to be one week). In some cases it is also offers a definite "extra". Two areas of interest are focussed on particularly by the authors: 1) the fetal appendages (vitelline sac, membranes, extra-embryonic coelom, trophoblast) which may be detected or revealed in greater detail by endovaginal ultrasound, make it possible to get a picture of the embryology of the fetus and of the prognosis of the pregnancy. The combination of color coded Doppler corroborates this new approach to the fetus; 2) the developments of this "sono-embryology" makes it possible to identify certain fetal malformations at a very early stage (neuro-medullary, parietal malformations...). However, interpreting the morphology of the fetus examined during the first three months must remain prudent and is no substitute for the morphological ultrasound scan carried out at about four and one half months of pregnancy.     

Ruptured intracranial aneurysms during pregnancy. A report of four cases

Four patients presented with ruptured intracranial aneurysms during pregnancy. Problems encountered during the management of these cases included delayed diagnosis, obstructive hydrocephalus, cerebral ischemia due to vasospasm and recurrent subarachnoid hemorrhage. Recent advances in the management of ruptured intracranial aneurysms, including early computerized tomographic scanning, intravascular volume expansion and induced hypertension for the management of cerebral vasospasm, and the timely obliteration of the aneurysm are applicable to the subarachnoid hemorrhage patient even if her condition is complicated by pregnancy.     

Fetal toxoplasmosis and negative amniocentesis: necessity of an ultrasound follow-up

Prenatal diagnosis of congenital toxoplasmosis relies on the PCR test on amniotic fluid and ultrasound follow-up of the fetus. We report two cases of toxoplasma infection during the first trimester of gestation with a discrepant diagnosis of fetal infection. PCR performed more than four weeks after the estimated date of contamination was negative. Ultrasound follow-up was normal up to the third trimester when major hydrocephalus was detected, leading to pregnancy termination. In both cases, post-mortem examination revealed a diffuse infection with severe brain lesions. These observations confirm the necessity to continue a monthly ultrasound follow-up, even if amniocentesis is negative, in case of fetal toxoplasma infection in pregnancy.     

Termination of pregnancy following prenatally diagnosed central nervous system malformations

Purpose

To analyze fetal cerebral malformations with late termination of pregnancy (TOP) and to evaluate the rate of cases that could have been detected earlier using international recommended requirements of sonographic examination of the fetal central nervous system (CNS).

Materials and methods

Cases of singleton pregnancies above 18?+?0 weeks of gestation ending in late TOP due to fetal CNS malformations between 2002 and 2011 were retrospectively reviewed. The cases were divided into isolated and non-isolated cerebral malformations. Prevalence and timing of TOP were assessed relative to the identified malformations.

Results

During this 10-year period, 212 (20.8%) out of 1017 late TOPs were performed in pregnancies with fetal cerebral malformations. 59 cases were excluded because of chromosomal anomalies. 86 (56.2%) of the remaining 153 cases were isolated cerebral malformations while 67 (43.8%) were non-isolated. TOP after viability (≥?24?+?0 weeks of gestation) was performed in 61.4% (94/153). Substantial morbidity (n?=?80; 52.3%) and mental retardation (n?=?33, 38.4%) made up the leading prognostic groups. In about 80% of detectable anomalies, diagnosis of CNS malformation could have been made earlier by following international guidelines of fetal CNS examination at second trimester scan.

Conclusion

General implementation of ultrasound screening in maternity care can significantly reduce the number of late TOPs in Germany.

     

The prenatal diagnosis of the Walker-Warburg syndrome

On the basis of physical features and autopsy findings, a child with congenital hydrocephalus, bilateral microphthalmia, myopathy, severe developmental retardation and multiple brain malformations was diagnosed to have the Walker-Warburg Syndrome (WWS). During a subsequent pregnancy in this family, a fetus at risk for this autosomal recessive condition was evaluated with serial ultrasound examinations. At 15 weeks of gestation an encephalocele was noted. Disproportionately slow growth of the head compared to the body was noted at 36 weeks. At birth, the diagnosis of WWS was confirmed in the child due to the presence of microcephaly, an encephalocele, a meningocele and bilateral microphthalmia. This is the first reported case of the early prenatal diagnosis of this recently categorized genetic condition, in which the major features are hydrocephalus, multiple central nervous system malformations, microphthalmia with ocular malformations, severe psychomotor retardation, congenital myopathy and a very limited life expectancy.     

超声早期诊断胎儿单心室、单心房、永存动脉干一例

胎儿心血管异常以复杂和多种畸形并存,是新生儿死亡的一大关键要素。产前联合应用多种超声成像技术早期准确诊断胎儿先天性心脏畸形,判断其类型和检出合并的畸形,对孕期咨询、评估、抉择及出生后救治具有重要意义,从而达到优生优育的目的。报道1例超声早期诊断胎儿单心室、单心房、永存动脉干的临床资料,观察其在超声下特征性的结构改变,以提高超声医师诊断该疾病的技术水平,使得胎儿复杂畸形在妊娠早中期就能被检查出来。     

Too late prenatal diagnosis of fetal toxoplasmosis: a case report

OBJECTIVE: We describe a case of severe fetal hydrocephalus due to toxoplasmosis which could not be diagnosed until late gestational age due to the lack of a serologic surveillance program during pregnancy; moreover, this case points to the usefulness of molecular biology tools in the diagnostic process. Abnormal ultrasound in the 2nd trimester was noticed and Toxoplasma gondii was demonstrated in amniotic fluid at the 28th week of gestation both by PCR and by mice inoculation. Fansidar and folinic acid were administered. The newborn suffered from progressive hydrocephalus, seizures, and pathological muscular tonus; ultrasound examination showed massive cerebral calcifications. Ophthalmologic examination revealed bilateral choroidoretinitis. Congenital toxoplasmosis was confirmed by the detection of anti- T. gondii IgM and IgA in the neonatal serum. CONCLUSION: The presented case is an example of severe fetal toxoplasmosis diagnosed and treated in utero.     

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

The prenatal diagnosis of a 1p36 deletion is reported. The pregnancy was ascertained at 24 weeks of gestation because of the discovery of multiple malformations at ultrasound including hypotelorism, moderate cerebral ventricular dilatation and Ebstein anomaly with secondary cardiac failure. Following cytogenetic studies and counselling, the pregnancy was terminated and a fetal autopsy performed. The phenotype of this antenatally-diagnosed case is compared with the clinical features of 44 previously reported cases with an identical deletion of the short arm of chromosome 1p36.     

Diagnosis of arachnoid cysts on prenatal ultrasound.

The aetiology and physiology of congenital arachnoid cysts are a source of controversy. We report a case where fetal cerebral ultrasonography shows an extraventricular sonolucent cystic formation after 20 weeks of pregnancy. Ultrasonography provides its topographic relations with adjacent brain structures and is also used to diagnose possible associated malformations. MRI confirms the ultrasonographic findings by investigating cerebral gyri. The rest of the examination involves detection of extracerebral anomalies and a karyotype study. Other differential diagnoses will be considered as a function of the embryological origin and topography of arachnoid cysts. The outcome of these arachnoid cysts depends on the age at the time of diagnosis, their size and their topography. The problem is that hydrocephalus, due to compression of the cerebrospinal fluid drainage pathways, may develop. Treatment, if necessary, is nearly always surgical.     

Early fetal echocardiography: a new challenge in prenatal diagnosis

During the past decade, an increasing number of reports concerning the diagnosis of most major congenital heart defects (CHDs) using early fetal echocardiography (before the 18th week of gestation) have been reported in both low- and high-risk populations for CHD. The finding of increased nuchal translucency seems to be the strongest predictor of CHD during the first trimester. Although some malformations are detected as early as 11 weeks' gestation, the optimal gestational age to perform the early scan is at least 13 weeks' gestation. Transvaginal ultrasound is the preferred approach, although most authors agree that results can be improved if transabdominal ultrasound is also incorporated. The further application of color Doppler enhances visualization. The sensitivity and specificity for the detection of CHD are of an acceptable level, compared with mid-gestational echocardiography. CHDs diagnosed early in pregnancy tend to be more complex than those detected later, with a higher incidence of associated structural malformations, chromosomal abnormalities and spontaneous abortions. The neonate follow-up or postmortem examination in the case of termination of pregnancy is essential to assess the actual role of early fetal echocardiography.     

Prenatal diagnosis of complex abnormality syndromes. A case report

Two cases of complex and serious fetal malformations are presented, which have only been diagnosed in a relatively late stage of pregnancy. In both cases unspecific difficulties had already arisen during ultrasound screening, but they were not considered to be of any vital importance. The problems of diagnosing malformations by ultrasound and the serious consecutive consequences are discussed.     

Cardiac anatomy screening: what is the best time for screening in pregnancy?

PURPOSE OF REVIEW: To consider the ideal gestational age for cardiac evaluation during pregnancy. RECENT FINDINGS: Screening the heart during routine obstetric ultrasound has become well established and is increasingly successful in the initial detection of major congenital heart disease. When the option of termination of pregnancy is available, the earlier the diagnosis of any major fetal malformation is made, the better for the patient. An important group who have recently been found to be at increased risk of fetal heart malformation are those with increased nuchal translucency measurements, who are identified between 11 and 14 weeks. Thus, screening for fetal anomalies is being attempted much earlier in pregnancy, aided by advances in technology. However, some forms of cardiac malformations do not become evident until the third trimester of pregnancy; as a result, some of the late-developing lesions may go undetected during very early evaluation. SUMMARY: The ideal timing for screening is a compromise between obtaining adequate images for diagnosis in the majority of routine patients, scanning sufficiently late not to miss late-developing lesions and yet offering diagnosis as early as possible for parents to consider their options, if there are any applicable to their particular diagnosis. For low-risk patients, the best compromise appears to be at around 20 weeks of gestation. For patients at increased risk of congenital heart disease, such as those found to have substantially increased nuchal translucency or those with a family history of the disease, an initial scan to exclude major malformations should be performed by the fetal cardiology expert at 12-14 weeks, with follow-up at around 20 weeks to exclude more minor defects and those lesions which may become evident later.     

Consequence of pathologic ultrasound findings in pregnant women. A contribution to the diagnosis of abnormalities using ultrasound

Report on three pregnancies in which fetal malformations were diagnosed by ultrasound. Possible consequences are discussed. That may be termination of pregnancy or conservative treatment directed to favourable conditions for possible surgical therapy post childbirth. The most difficult case however is the twin pregnancy with fetal malformations in one child.     

Endovaginal sonographic diagnosis of the fetal urinary tract anomalies in early pregnancy

Transvaginal sonography has enhanced the ability to follow fetal development and detect pathologies in early gestation. Examination of the fetal urinary tract is an integral part of routine sonographic examinations in the second trimester of pregnancy and one of the major benefits of prenatal sonography is to allow early diagnosis of relatively common urinary tract malformations. Detailed evaluation of the fetal urinary tract and identification of anomalies were considered to be difficult before the 18th week of gestation prior to the use of transvaginal sonography. Using the transvaginal route, a detailed evaluation of the kidneys is possible around 12 weeks and structural anomalies of the urinary tract are being detected at an ever-increasing rate. Transvaginal sonography, owing to its proximity to the maternal pelvic organs, allows an earlier determination of the normal fetal urinary system and more accurate diagnosis and identification of fetal urinary anomalies as compared with transabdominal ultrasound. Received: 22 May 2000 / Accepted: 21 August 2000     

Diagnosis of fetal anomalies in early pregnancy

Summary With the high-resolution ultrasound technology available today, the rapid embryofetal development during the first trimester can be imaged in detail. Thus, malformations can also be recognized if especially searched for. In the literature an enormous number of ultrasonographic normal values concerning early pregnancy have been published, and there are innumerable case reports of early diagnosed malformations of various organ systems. With a targeted search more than half of anomalies detectable in the second trimester can be seen at the end of the first trimester. These data, however, are insufficient to justify the introduction of early screening for fetal anomalies. With a burdened history a targeted exclusion diagnosis can contribute to the first psychological relief of the parents. If there are abnormal findings, in many cases the prognosis can not be ascertained and some anomalies appear only temporarily in later healthy children. Therefore, hasty conclusions should be avoided.      

The exact prenatal diagnosis of abnormalities of the kidneys and efferent urinary system--a possibility for further decreasing perinatal morbidity and mortality

Early detection of fetal malformations has become possible owing to the availability of highly advanced ultrasound systems. Majority of malformations, 30 per cent, has been recordable from urinary system. This system is early of access for the examiner, so that even sophisticated diagnosis of malformation is possible. High accuracy diagnosis has been increasingly helpful in forecasting pregnancy prognosis. Hence, with adequate perinatological management, it will be possible to influence on perinatal morbidity and mortality positively. 70 fetuses with malformations of kidneys and to urinary system have been observed in the context of this study. An assessment was made of diagnostic efficiency, postpartum development and long-range prognosis. Recommendations are derived from the above mentioned findings for perinatological approach in cases of diagnosed malformations of kidneys and the other urinary system.     

Cerebral vascular malformations and pregnancy: obstetrical and anesthetic management

Obstetrical management of women known to have a cerebral vascular malformation is controversial. The risk of cerebral hemorrhage during pregnancy is difficult to assess. We report thirteen cases of pregnancy in women with known cerebral vascular malformations who had or had not undergone surgical treatment. The effect of pregnancy on these malformations and corresponding obstetrical care described in the literature were studied. Our conclusion is that the risk of bleeding from cerebral arteriovenous malformations is not significantly increased during pregnancy whereas the risk of cerebral hemorrhage is slightly increased at the end of pregnancy, but unchanged during labor and delivery, in women with arterial aneurysms. There is no reason to advise against pregnancy in most cases and vaginal delivery is often possible unless there is a risk of dystocia.     

胎儿外科相关畸形的超声产前诊断和治疗

目的　探讨胎儿畸形的产前超声诊断和新生儿外科早期治疗模式。　方法　分析我院1998年 3月～ 2 0 0 0年 12月超声诊断 9例胎儿外科相关畸形 ,其中 6例在新生儿期手术治疗 ,2例保守治疗 ,1例引产。　结果　孕中期诊断 2例 ,孕晚期诊断 7例 ,包括十二指肠闭锁合并环状胰腺、腹壁肌肉缺损、膈疝、巨大脐膨出、高位无肛各 1例 ,肾盂积水 4例 ,其中重度 2例。除 2例轻度肾盂积水保守治疗和 1例高位无肛引产外 ,6例新生儿期手术治疗 (5例成活 ,1例死亡 )。　结论　在我国胎儿外科尚未进入临床前 ,产前诊断及新生儿外科早期治疗是现阶段较符合我国国情的治疗模式。新生儿外科需要深入到产科和产前超声诊断 ,更重要的是努力提高围产期胎儿畸形产前诊断的准确率 ,使胎儿畸形得到早期治疗     

Prenatal diagnosis of isolated otocefalia. Usefulness of three-dimensional ultrasound

Otocephaly is a rare and lethal congenital malformation characterized by the presence of agnathia, microstomia, aglossia and synotia. Despite its frequent association with severe malformations, diagnosis in the few published cases is usually made at III trimester. In this case, three-dimensional ultrasound scan was performed in a Chinese primigravida with no remarkable personal nor familiar history since mandible was difficulty visualized with two-dimensional sonography at 21 weeks of gestation. Multiplanar and rendering mode showed the typical cervicofacial features of otocephaly without associated malformations. After parental counselling, they opted for termination of pregnancy and necropsy confirmed our prenatal findings. Our case shows the usefulness of three-dimensional ultrasound in assessing fetal cervicofacial pathology. Volumetric capture allows a delayed study of fetal anatomy and multiplanar mode offers the reconstruction of views whose achivement is difficult with conventional 2D ultrasound. Surface rendering provides excellent spatial vision and enables parents to understand the severity of the malformation thus helping with their decisions.