Collection of fetal blood for stem cell research and therapy.

Stem cell research has generated novel therapeutic opportunities at the expense of new ethical and legal problems. Its promoters recommended early clamping of the umbilical cord to maximize the amount of acquired fetal blood. Fear has been expressed, therefore, that the donor could be compromised by this approach. Actually, the problem is more complex than generally assumed. In certain clinical situations the neonate may benefit from or become harmed by additional blood volume. Gravity influences the direction of umbilical blood flow and, thus the consequences of early or delayed cord clamping. Therefore, vaginal birth promotes blood flow from the placenta to the fetus, whereas delivery by cesarean section usually has the opposite effect. Largely ignored in the course of the relevant debates, the above facts require consideration. The controversy may be beneficial in the long run by drawing attention to this relatively neglected aspect of perinatal medicine.

Untoward neonatal sequelae deriving from cutting of the umbilical cord before delivery.

Four cases are reported where, following the delivery of the fetal head, the physician electively cut the nuchal cord of the fetus. The extraction of the body entailed difficulties and the babies suffered irreversible damage in the process. Not unlike 5 previously described similar cases, these incidents came to the attention of the authors in connection with medico-legal reviews. The writers conclude that the practice of severing the umbilical cord prior to the delivery of the body of the fetus, proposed in some textbooks as a routine procedure, is a dangerous technique, which should be avoided. They also point out that the medical literature has not discussed this problem. Reviews of potential malpractice cases frequently provide important research data that cannot be elicited in the course of traditional clinical investigations.

Risk of recurrence of craniospinal anomalies.

The authors analyzed 1,655 situations from their Genetic Counseling Service over a 15 year period where the reason for counseling was craniospinal anomaly (neural tube defects and/or hydrocephalus) in the family. Excluding the obviously monogenically inherited cases, they investigated pregnancies undertaken after 1,285 isolated and 177 multiple forms of craniospinal abnormalities. The recurrence rate of craniospinal defects was found to be 3.66%, which is about ten times higher than the general population risk, supporting the theory of the multifactorial threshold model in the inheritance of these anomalies. The recurrence risks of neural tube defects and of hydrocephalus were 3.47% and 2.95%, respectively. The authors concluded that recurrence risk is mainly influenced by the pathoanatomic severity of the involved anomaly, the degree of relationship, and the number of affected relatives in the family. There is a positive correlation between the pathoanatomic severity of the anomaly in the proband and the offspring. At least in one-half of the cases the same type of anomaly was observed again in the offspring as in the proband. Attention is drawn to the fact that hydrocephalus (ventriculomegaly) is often manifested only in the second half of gestation. Therefore, performing ultrasound examination is strongly recommended not only at the 18th but at the 24th week of gestation, as well in pregnancies with a positive history of neural tube defects and/or hydrocephalus.

[Transient neonatal myasthenia gravis]. / Transitorikus újszülöttkori myasthenia gravis.

Authors reported about their experiences with newborn infants, who had transient myasthenia gravis; one disease developed in the fetal, others 10 in the early neonatal age. Direct correlation was found between the development of maternal polyhydramnios and the severity symptoms in newborns: risk of neonatal myasthenia gravis increased at these infants. Specific treatment included blood exchange transfusions and pyridostigmin (Mestinon) medication for 2-10 weeks. Five transient myasthenia gravis responded readily to blood exchange transfusions. Authors pointed out that in the early neonatal period the aetiology of an obscure respiratory inadequacy and hypoventilation might be regarded as transient myasthenia gravis.

Cerebral palsy following cutting of the nuchal cord before delivery.

Five cases identified in the course of medicolegal reviews are described where the umbilical cord wrapped around the neck of the foetus once was cut intentionally, or broken, prior to the extraction of the body. Delivery was delayed on account of shoulder dystocia for a period of time varying from three to seven minutes. All of these infants were born with a low APGAR score. Subsequently, they displayed manifestations of cerebral palsy and two of them also had permanent brachial plexus lesion. This series of incidents indicates that an unexpected arrest of the shoulders may inadvertently compound the problem that the severing of the cord prior to the delivery of the body entails. If, as in the cases presented here, hypoxic brain damage ensues, the severing of the cord may become a suspected causative factor. Our literary review has revealed no reference to severing of the cord having been followed by shoulder dystocia. Along with other instances where similar reviews drew attention to as yet unrecognized clinical phenomena, this unusual cluster of a previously unconsidered type of accident at birth underlines the value of carefully conducted medicolegal reviews as a potential clinical research tool in medicine.

Common intrapartum denominators of shoulder dystocia related birth injuries.

The intrapartum background of fetal injuries associated with shoulder dystocia was studied retrospectively on the basis of 107 relevant medical records. Intrapartum use of oxytocin and protraction-arrest disorders, the latter particularly during the second stage of labor, were frequent findings. Delivery was effected by forceps or vacuum extraction in almost one-half of the cases. Shoulder dystocia related permanent fetal impairments were closely connected to macrosomia. The fetal weight was > or = 4,000 grams in about 75% and > or = 4,500 grams in approximately 40% of the instances. Permanent hypoxic or traumatic cerebral damage was documented in almost one-third of the cases. The data indicate that in connection with coincidental neonatal afflictions, the birth weights of the fetuses are higher and instrumental extractions are more frequent than in relation to all clinically diagnosed cases of shoulder dystocia.

Neonatal periventricular leukomalacia: diagnosis and monitoring by real-time ultrasound.

Periventricular leukomalacia is a form of hypoxic-ischaemic encephalopathy developing in preterm babies. During the last year among 387 sonographically screened neonates 11 periventricular neonatal leukomalacia cases were found. Analysing their cases authors discuss its sonographic diagnosis and follow up. In the acute stage characteristic triangular shaped area of increased echogenicity appears at the external angle of the lateral ventricles, later regular shaped echo-free areas of cysts appear in that region. The diagnostic and prognostic significance of cranial sonography in periventricular leukomalacia is discussed.

Sonography of meningoencephalitis and ventriculitis in infancy.

On the basis of eleven own cases sonographic features of infant meningoencephalitis and ventriculitis are discussed. The characteristic findings are as follows: abnormal parenchymal echogenicity of brain, changes of the size and wall echogenicity of cerebral ventricles and that of cerebrospinal fluid echogenicity.

[Ultrasonic diagnosis of agenesis of the corpus callosum]. / Corpus callosum agenesia ultrahangdiagnosztikája.

Agenesis of the corpus callosum may be diagnosed successfully in vivo when sonograms demonstrate absence of corpus callosum, absence of pericallosal and cingulate sulci, wide interhemispheric fissure, small laterally positioned frontal horns with concave lateral borders. Two cases of corpus callosum agenesis were diagnosed in early infancy by ultrasound. Ultrasonographic anatomy of the corpus callosum and characteristic ultrasound features and neurological findings of agenesis are described.

[Leading etiologic factors in periventricular bleeding and periventricular leukomalacia]. / A periventricularis vérzés és a periventricularis leukomalaçia kialakulásához vezetö oki tényezök.

Prenatal, intrapartum and postnatal factors were investigated in less than 32 gestational age preterm infants known to have periventricular haemorrhage or periventricular leukomalacia. The diagnoses were established on cranial ultrasonography and/or autopsy. Factors associated with periventricular haemorrhage were: postnatal severe hypercapnia, acidosis and hypoxia. In the periventricular leukomalacia group the incidence of antepartum and intrapartum hypoxia and/or ischaemia (antepartum haemorrhage) were significantly higher than in the control group.

[Ruling out fetal Sanfilippo's syndrome (mucopolysaccharidosis IIIA) in the first trimester of pregnancy]. / Magzati Sanfilippo A (mucopolysaccharidosis IIIA) betegség kizárása a terhesség elsö trimesterében.

The defect of the enzyme heparan sulfamidase is the cause of Sanfilippo A syndrome (mucopolysaccharidosis IIIA) which is an autosomal recessive inherited disease. Three children of a marriage couple who attended our genetical counselling died of this disease which at the moment is incurable. At the 10th week of the following pregnancy chorion villi analysis was carried out and normal values of the enzyme heparan sulfamidase were obtained. In view of this it was decided that pregnancy should continue. At the moment the child is one year old and clinical and laboratory findings also show that she is not affected.

Heterogeneity and recurrence risk for congenital hydrocephalus (ventriculomegaly): a prospective study.

We report on 261 prospectively ascertained pregnancies studied to determine the recurrence risk of congenital hydrocephalus. Our results suggest that couples who have had one previous child with hydrocephalus have a recurrence risk of 4%. Such couples should be offered prenatal diagnosis in the second trimester of all subsequent pregnancies. It is suggested that, apart from the X-linked recessive cases, ventriculomegaly is mostly multifactorially determined.

Sonographic diagnosis of subcortical cystic leukomalacia.

The real-time sonographic diagnosis of subcortical cystic leukomalacia has been described only recently. We report on a severely asphyxiated term infant who went on to develop this condition, and discuss the usefulness of ultrasound scanning in term babies with hypoxic-ischaemic disease.

Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis.

The outcome of four successive pregnancies in a woman heterozygous for X linked hydrocephalus is described. The last two were scanned by ultrasound. In one, a good prognosis was given; the fetus was male but there was no evidence of dilated cerebral ventricles. In the other, hydrocephalus was diagnosed. The absence of aqueductal stenosis in this case supports the hypothesis that in this X linked condition communicating hydrocephalus is the primary defect and aqueductal stenosis is secondary.