In utero diagnosis and treatment of fetal goitrous hypothyroidism,caused by maternal use of propylthiouracil

A fetal goitre is a potentially dangerous phenomenon because of mechanical obstruction and possible fetal thyroid function disorders. In this report we describe a patient with Graves' disease diagnosed in early pregnancy and treated with propylthiouracil, which resulted in a large fetal goitre and fetal hypothyroidism. The diagnostic problems are discussed and we focus on the need for fetal thyroid hormone serum evaluation. The only reliable way to obtain information about the fetal thyroid status is percutaneous fetal umbilical cord blood sampling, since amniotic fluid levels do not properly represent the fetal thyroid function. Fetal hypothyroidism can thus be diagnosed in utero and treated with intra-amniotic injections of thyroxine. The recommended dose and frequency of injections are only based on a few case reports and for that reason we performed a second fetal blood sampling 1 week later to evaluate our therapy. Weekly intra-amniotic injections of 250 μg of thyroxine seem to be sufficient to reduce a fetal goitre and give a normal thyroid hormone level.     

Isolated fetal hydronephrosis: Beware the effect of bladder filling

The aim was to assess the role that fetal bladder size has in the determination of fetal hydronephrosis. Forty-three fetuses were evaluated for fetal hydronephrosis in the second trimester of pregnancy. Anteroposterior measurements of the renal pelvis were obtained with a full bladder and again when the bladder emptied in each fetus. Statistical analysis was performed using the Spearman rank order correlation coefficient to assess the relationship between bladder status and renal dilation. The anteroposterior size of the fetal renal pelvis diminished from 6.8 ± 1.8 mm on a full bladder scan to 4.5 ± 1.6 mm when the bladder was emptied (P<0.001). Fifty-three per cent of the fetuses whose renal pelvic measurements were 5 mm or more on a full bladder scan had normal-appearing renal pelvises when their bladders emptied. The status of the fetal bladder should be considered when evaluating fetal hydronephrosis.     

Prenatal assessment and management of sacrococcygeal teratoma

Sacrococcygeal teratoma (SCT) is one of the most common tumors in newborns with a birth prevalence of up to 1 in 21 700 births. Routine fetal anomaly screening programs allow for prenatal diagnosis in many cases. Fetal ultrasound with Doppler evaluation and more recently magnetic resonance imaging may be used to document the extent of the tumor as well as identifying the population at risk for serious fetal complications. Rapidly growing SCT and highly vascularized tumors are more likely to have hemodynamic repercussions. Fetal hydrops is usually considered as a poor prognostic marker and a potential indicator for fetal intervention. Newborns with SCT require stabilization prior to early surgical resection. In case of malignancy additional chemotherapy may be required. SCT may result in significant morbidity, either directly or as a consequence of surgical therapy. Careful postnatal follow-up is required for timely identification and treatment of complications as well as recurrence. This paper aims to review the perinatal management of this condition. Copyright © 2011 John Wiley & Sons, Ltd.     

The making of fetal surgery

Fetal diagnosis prompts the question for fetal therapy in highly selected cases. Some conditions are suitable for in utero surgical intervention. This paper reviews historically important steps in the development of fetal surgery. The first invasive fetal intervention in 1963 was an intra-uterine blood transfusion. It took another 20 years to understand the pathophysiology of other candidate fetal conditions and to develop safe anaesthetic and surgical techniques before the team at the University of California at San Francisco performed its first urinary diversion through hysterotomy. This procedure would be abandoned as renal and pulmonary function could be just as effectively salvaged by ultrasound-guided insertion of a bladder shunt. Fetoscopy is another method for direct access to the feto-placental unit. It was historically used for fetal visualisation to guide biopsies or for vascular access but was also abandoned following the introduction of high-resolution ultrasound. Miniaturisation revived fetoscopy in the 1990s, since when it has been successfully used to operate on the placenta and umbilical cord. Today, it is also used in fetuses with congenital diaphragmatic hernia (CDH), in whom lung growth is triggered by percutaneous tracheal occlusion. It can also be used to diagnose and treat urinary obstruction. Many fetal interventions remain investigational but for a number of conditions randomised trials have established the role of in utero surgery, making fetal surgery a clinical reality in a number of fetal therapy programmes. The safety of fetal surgery is such that even non-lethal conditions, such as myelomeningocoele repair, are at this moment considered a potential indication. This, as well as fetal intervention for CDH, is currently being investigated in randomised trials. Copyright © 2010 John Wiley & Sons, Ltd.     

The 18-week fetal examination and detection of anomalies

From its beginning in the fifties the use of ultrasound in gynaecology and obstetrics has expanded extensively. Ultrasound technology has taken us from a time when the mother was our prime focus to the present where it is the unborn baby. Ultrasound assessments may have significant consequences for pregnancy care by optimizing the time, the mode and the location of the delivery as well as preparing the postnatal staff for a prenatally defined fetal problem. A major factor in the development was the groundbreaking work of an obstetrician, Ian Donald, and an engineer, Tom Brown, at Queen Mother's Hospital in Glasgow, who produced an ultrasound instrument called the Diasonograph. The first screening program offering a systematic ultrasound examination to a large pregnant population began in Malmoe, in 1973 and aimed to detect twins. Since then the examination has evolved over the years to include a systematic evaluation of the intrauterine contents. A number of randomized controlled trials have been reported and several large studies have reported the efficiency of routine fetal examinations for the detection of anomalies. Detection rates for the various subsets are presented. The learning curve regarding the ability to detect anomalies and the importance of proper training has also been shown. The procedure ‘routine fetal examination’ has been significant in supporting the continuous development of fetal medicine. The consequences of the improved dating of every pregnancy and the in utero transport of a sick fetus rather than an emergency transportation of a sick neonate, have an established evidence base. Ultrasound technology has had a remarkable ability to trigger great technical minds to move the technology forward year after year. Through a continuous cooperation between technicians and clinicians, this impressive technology of ultrasound will continue to support our work for the unborn child. Copyright © 2010 John Wiley & Sons, Ltd.     

Tertiary centre referral of small-for-gestational age pregnancies: A 10-year retrospective analysis

Between 1981 and 1991, 461 pregnant women between 15 and 40 weeks of gestation (mean 30 weeks) with completed follow-up were referred to our centre for prenatal diagnosis because of a small-for-gestational age (SGA) fetus or combined SGA and structural abnormality. The referral diagnosis was based either on biparietal diameter measurements or on measurement of the upper-abdominal circumference. SGA in our centre was defined as a fetal upper-abdominal circumference below the tenth centile. SGA was confirmed by ultrasound in 75 per cent of the fetuses, whilst combined SGA and fetal structural abnormality was substantiated in only 16 per cent of the fetuses. However, in our centre structural abnormality was detected in 34 fetuses who were referred because of SGA alone. Nearly half of the structurally normal SGA fetuses displayed a normal head-to-abdomen (H/A), ratio, whereas an increased H/A ratio was found in 13/15 fetuses with an abnormal karyotype. An abnormal karyotype was present in 20 fetuses, which is 7 per cent of the total SGA population. Nearly 50 per cent represented triploidy associated with oligohydramnios. SGA was confirmed by a birth weight below the tenth centile in 89 per cent, below the fifth centile in 77 per cent, and below the 2·3rd centile in 55 per cent of infants. Structural abnormality was confirmed in 65 per cent of infants, whereas in 19 per cent of infants the abnormality was missed or a misclassification was made. Perinatal mortality was 31 per cent for all SGA fetuses, 27 per cent for SGA fetuses without anomalies, and 64 per cent for SGA fetuses with structural abnormality.     

Restrictive dermopathy and fetal behaviour

We report three siblings from consecutive pregnancies affected with restrictive dermopathy (RD). During the second pregnancy, fetal behavioural development and growth were studied extensively using ultrasound at 1–4 week intervals. Dramatic and sudden changes occurred in fetal body movements and growth but not until the end of the second trimester of pregnancy. Prominent at that time were prolonged periods of fetal quiescence and very low heart rate variability, together with abnormally executed body movements of short duration. Retarded femoral development and jerky abrupt fetal body movements (abnormal movement quality) were already present in the early second trimester of pregnancy. Facial anomalies emerged despite the presence of fetal mouth movements. The clinical features of RD were only partly explained by present knowledge of skin development and the fetal akinesia deformation sequence hypothesis. Quantitative assessment of fetal movements proved to be a poor early marker for antenatal diagnosis of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

New and/or improved aspects of fetal surgery

Open fetal surgery through a wide hysterotomy is no longer a real option for prenatal intervention, but a minimally invasive approach has emerged as treatment for a small number of indications. Endoscopic ablation of placental vessels is the preferred treatment for severe twin-to-twin transfusion syndrome and it may be the only chance to salvage the most severe forms of congenital diaphragmatic hernia. Several other indications are currently under review and may become justified in the future, provided that diagnostic accuracy and patient selection become more accurate. Before invasive fetal intervention becomes widely accepted, however, we need to better define outcome. It is no longer acceptable to express results in terms of survival at birth. Survival at discharge and long-term morbidity must be considered as well. Copyright © 2011 John Wiley & Sons, Ltd.