Catherine Donner

Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalis.

The birth of a male baby was induced at 32 weeks. In utero, the child presented, inter alia, signs of hydrops, hepatosplenomegaly and anaemia. Two in utero transfusions for correction of the anaemia were performed at 28 and 29 weeks, respectively. The baby rapidly presented respiratory distress with mixed acidosis. Three hours after birth, pink urine was excreted. Signs of icterus necessitated phototherapy, after which photosensitivity occurred. Erythrocytes were fluorescent under long-wavelength UV light. The baby died 24 hours after birth, displaying severe acidosis, a diffuse haemorrhagic syndrome, and repeated brady-cardia which did not respond to isoprenaline. The analysis of porphyrins in urine, blood and faeces of the baby gave the following results: 1) uroporphyrin (I and III isomeric series) was increased in urine and faeces, with traces in erythrocytes and plasma; 2) heptacarboxyporphyrin I was found mainly in urine and much less in erythrocytes, plasma and faeces; 3) coproporphyrin I was increased in urine, erythrocytes, plasma and faeces, and 4) 5-aminolaevulinic acid and porphobilinogen in urine and plasma were within the reference ranges. Determination of the enzymes of haem biosynthesis in erythrocytes and lymphocytes showed that both parents possessed only 50% of the normal activity of cosynthase. A previously described point mutation in codon 73 was observed in one parent. Fatal cases of neonatal Günthers disease are extremely rare and such an observation, according to our knowledge, is probably one of the first described.

Multifetal pregnancy reduction: a belgian experience

Multifetal pregnancy reductions were performed during the first trimester of pregnancy in 26 patients. Transabdominal intrathoracic KC1 injections were performed in 23 cases, and transcervical aspirations in 3 cases. There were 4 miscarriages (15%) during the second trimester, 18 pregnancies ended in 33 births, 4 pregnancies are going on uneventfully and are beyond 32 weeks. There was no maternal morbidity related to the procedure; fetal morbidity has been mild.

Chorionic biopsy in management of severe Kell alloimmunization

Determination of fetal red blood cell Kell antigen is possible on fetal red blood cells obtained at 10 weeks of gestation by chorionic biopsy and may contribute to the management of severe Kell-hemolytic disease.

Diagnostic cordocentesis: two years of experience

The first diagnostic cordocentesis was performed in our unit in October 1985, our 2-year experience is reported. 144 samplings were performed in 137 patients (139 fetuses - 2 patients had twin pregnancies) during gestational weeks 14 to 42. The first attempt was successful in 80% of the procedures, 4 samplings failed. There were no fetal deaths within 3 days after diagnostic cordocentesis, a transient fetal bradycardia was observed in 12.2% of the cases, bleeding occurred in 13.6% of the cases. The indications for cordocentesis were: risk of fetal infection, karyotyping, hemophilia A, alloimmunisation, search for paternity, assessment of fetal acid-base status. Our data confirm that cordocentesis is a safe and reliable diagnostic procedure providing guidelines for management of the pregnancy.

Twin–twin transfusion syndrome—possible roles for doppler ultrasound and amniocentesis

A 29‐year‐old woman was referred for suspicion of twin‐twin transfusion syndrome (TTTS). Several ultrasonographic and neonatal criteria of TTTS were encountered in this twin pregnancy. The peculiar observations in this case were, firstly, the demonstration of superficial anastomosis by Doppler ultrasound and, secondly, that one single therapeutic amniocentesis could have been sufficient to partially correct the progression of the syndrome, as after amniocentesis it was no longer possible to demonstrate the vascular communication. This observation suggests that superficial anastomoses could also have a role in the genesis of TTTS. Their effect could be monitored by Doppler ultrasound and could be more easily corrected by therapeutic amniocentesis.

Ultrasound and Perinatal Infection

The management of the patient at risk for fetal infection is still challenging and often controversial.

Abnormal Fetal Growth

Fetal growth restriction (FGR) is an important cause of increased morbidity and mortality during the perinatal period (e.g., stillbirth, prematurity, asphyxia and neonatal complication) and in childhood (e.g., growth failure, neurological impairment and behavioral disorders) (Schauseil-Zipf et al. 1989, Allen 1984, Wienerroither et al. 2001). Furthermore, during recent years, several large-scale epidemiological studies in England and in Sweden have tended to suggest a relation between low birth weight and several discases in adulthood (so-called Barker’s theory) (Barker et al. 1990, Williams et al. 1992, Baker et al. 1993). In studies exploring these associations, the trends in coronary heart disease, hypertension and non-insulin-dependent diabetes mellitus were significantly higher in low-birth-weight infants. To date, the most widely accepted explanation of this would be an adaptation of the fetus to a limited supply of nutrients. In doing so, the fetus would permanently change its physiology and metabolism and accelerate its postnatal growth as a result of good living conditions, but this may lead to excessive demand on limited cell mass (Eriksson 2000).