A fetal cystic neck mass associated with maternal tuberous sclerosis. Case report and literature review

Tuberous sclerosis is a single gene autosomal-dominant disorder, characterized by multiple hamartoma formation. It shows a wide variability of expression. Prenatal diagnosis by means of a DNA or biochemical marker is not yet possible. Ultrasound offers the only way to detect possible antenatal hamartoma formation, which is most commonly found in the central nervous system, the renal system, and the heart. We report a case of fetal involvement that appears unique because of the unusual location of a tumour in the neck of the fetus.     

Prenatal diagnosis of Hunter syndrome using fetal plasma

The X-linked Hunter syndrome or mucopolysaccharidosis II was diagnosed in a male fetus by demonstrating a severe deficiency of iduronate 2-sulphate sulphatase activity in fetal plasma obtained by umbilical fetal blood sampling at 23 weeks of pregnancy. The diagnosis was confirmed after termination of pregnancy.     

Genetic amniocentesis in multiple gestations

Thirty-one genetic amniocenteses involving multiple gestations were performed in the genetics unit between 1976 and 1982. Three sets of triplets were included. Precise locations of the sacs were determined using real-time ultrasonography and successful sampling of all sacs was accomplished. Spontaneous abortions occurred in two normal twins and one normal triplet gestation. Two therapeutic abortions were performed for fetal abnormalities. Two cases of discordance for trisomy 21 (one twin and one triplet) were allowed to continue; the twin case terminated at 25 weeks' gestation with neonatal deaths and the triplets are alive and well.     

Prenatal diagnosis and management of anterior abdominal wall defects in the West of Scotland

An attempt was made to identify all the cases of abdominal wall defects occurring in the West of Scotland over a 7-year period to determine the current incidence, prenatal diagnosis, management, and prognosis for fetuses and neonates with abdominal wall defects. Cases were identified because they presented either for prenatal diagnosis, or to the Department of Pathology following termination or spontaneous pregnancy loss, or as neonates to the Neonatal Surgical Department. The incidence of abdominal wall defects was found to be 1 in 2500 births. Exomphalos was diagnosed before birth in 66 per cent of cases, and in 30 per cent of cases it was associated with another major abnormality. There was a 20 per cent intact survival in the cases diagnosed prenatally who had no fetal anomaly and who opted to continue with the pregnancy. Gastroschisis was diagnosed before delivery in 70 per cent of cases, and in the group who continued with the pregnancy there was an intact survival of 77 per cent. Body stalk anomalies were all diagnosed prenatally and terminated. Maternal serum alpha-fetoprotein was elevated in 89 per cent of the cases with exomphalos and in 100 per cent of the cases with gastroschisis and body stalk anomalies in which it was tested.     

Prenatal detection of non-cardiac rhabdomyosarcoma

The most prevalent soft tissue tumour in children is rhabdomyosarcoma. These tumours may develop within or outside of muscle anywhere in the body and at any age. We report what is apparently the earliest case of non-cardiac rhabdomyosarcoma detected prenatally.     

The development of fetal behavioural states: A longitudinal study

In order to evaluate the development of fetal behavioural states a longitudinal study was performed on 35 healthy fetuses during the last trimester of pregnancy. Fetal heart rate (FHR), gross fetal body movements (FM), fetal eye movements (FEM), fetal breathing movements (FBM) and micturition were simultaneously studied at two-week intervals from 28 weeks gestation onwards. Well-defined fetal behavioural states were observed only after 36 weeks gestation. Between 28 and 36 weeks the quiet-activity cycle of FHR was always detected and some fetal biophysical activites seemed to become related around this cycle.     

Measurement of the fetal mandible—feasibility and construction of a centile chart

The prenatal diagnosis of micrognathia is usually based on a subjective impression of the size of the jaw when examining the fetal profile. We have constructed a centile chart for mandibular length between 12 and 27 post-menstrual weeks in a cross-sectional study of 184 fetuses. The application of this chart in clinical practice may permit a more objective diagnosis of micrognathia in the prenatal period.     

Prenatal diagnosis of a left ventricular aneurysm

In a fetus with ventricular extrasystoles a congenital aneurysm of the left ventricle was diagnosed prenatally. At 32 weeks of gestation, echocardiography showed a large apical left ventricular aneurysm with a thin, hypokinetic wall. Congestive heart failure did not occur. Prenatal and postnatal examinations did not detect the aetiology of the aneurysm, but excluded the majority of possible causes. The 2-year-old child is now asymptomatic and normally developed. Neither medication nor surgical treatment have been necessary, except for antithrombotic prophylaxis with low-dose aspirin.     

Fetal limb constriction: A possible complication of CVS

A case of fetal loss due to infection after first-trimester chorionic villus sampling is described. The fetus was born at 18 3/7 weeks and showed an annular constriction of one of the arms as seen in the amniotic band sequence. Induction of congenital defects might be one of the complications of chorionic villus sampling.     

Diaphragmatic hernia presenting in utero as a unilateral hydrothorax

A right-sided diaphragmatic hernia presented as a fetal hydrothorax. The fluid-filled hernial sac enveloped the lung and presumably prevented serious compression effects. The implications of fetal thoracic anomalies are discussed.