Ultrasonographic scanning of placental thickness and the prenatal diagnosis of homozygous alpha-thalassaemia 1 in the second trimester

In order to evaluate the association between placental thickness (PT) and fetal homozygous alpha-thalassaemia 1 before the appearance of classic ultrasound findings of haemoglobin (Hb) Bart's hydrops fetalis, a total of 473 pregnancies were collected. The control group included 422 normal pregnancies with a gestational age from 14 to 23 weeks and the study group included 51 affected fetuses in the same gestational period. Fetal biparietal diameter (BPD) and PT were measured by high-resolution ultrasound. PT was evaluated against BPD. In the control group, the PT generally increased in parallel with the advancement of gestational age. All PT measurements in the study group were above the mean PT of their respective gestational week in the control group. Forty-six (90 per cent) of the pregnancies in the study group had PT larger than the mean plus two standard deviations of the control group. This study suggests that ultrasound measurement of PT may be a useful aid in the prenatal diagnosis of Hb Bart's hydrops fetalis before its classic findings become apparent in the late second trimester or third trimester.     

Multiple marker screen positivity in the presence of hydrops fetalis

Three cases of hydrops fetalis presented in the second trimester as screen-positive for Down syndrome using multiple maternal serum markers. One case was a karyotypically normal female; one case was a monosomy X (Turner syndrome); and one case was a trisomy 21 (Down syndrome). In each case, the maternal serum human chorionic gonadotrophin (hCG) was disproportionately elevated. These cases support the contention that hydrops fetalis of any aetiology may present as screen-positive when using multiple maternal serum markers for Down syndrome. Further cases will be necessary before it can be determined whether a disproportionately elevated hCG is predictive of hydrops.     

Prenatal Diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops

Blood was obtained by cordocentesis from a fetus with non-immune hydrops demonstrated by ultrasound scanning at 27 weeks' gestation. Abnormalities of serum transferrin isoelectric focussing (IEF) were identified, characteristic of a congenital disorder of glycosylation type I (CDG-Ia). A diagnosis of CDG-Ia was confirmed by enzyme analysis of cultured amniocytes. This is the first report of CDG-Ia diagnosed by serum analysis in a fetus. Previous reports have warned that diagnostic abnormalities do not appear in serum until several weeks after birth. The sensitivity of cordocentesis transferrin IEF is unknown but is less than 100% effective because cases have been diagnosed postnatally after normal prenatal or neonatal studies. Enzyme analysis or mutation analysis is required for diagnosis of congenital disorder of glycosylation (CDGs) regardless of whether a diagnostic transferrin pattern is identified prenatally. The analysis of a small sample of serum, from cordocentesis, performed to check for fetal anemia, simplified the investigation, diagnosis, and genetic counselling of a case of non-immune hydrops detected at 27 weeks' gestation. This might be a useful test for other cases in these circumstances, as fetal blood is usually collected to check for anemia. Copyright © 2006 John Wiley & Sons, Ltd.     

Sub-lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis in two consecutive pregnancies

Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia mapping to 16q23–q24. We showed recently that it is part of a pleiotropic syndrome likely to display pseudohyperkalemia and/or different forms of fetal and placental fluid collections. Here, we report a woman with DHS. She had two consecutive pregnancies associated with severe fetal hydrops. Hydrops would probably have been lethal in the absence of appropriate removal of ascites and excess amniotic fluid. In utero exchange transfusion, performed once, was useless, because anemia was not pronounced enough to be the cause of the hydrops. In both newborns, ascites resolved within a week following birth and never recurred. The association of hydrops and hemolytic anemia suggests the possibility of DHS. Symptomatic treatment of the hydrops assists survival until spontaneous resorption occurs. Copyright © 2003 John Wiley & Sons, Ltd.     

Early prenatal diagnosis of A lethal syndrome of multiple congenital contractures

An ultrasonic diagnosis of a lethal, autosomally recessive syndrome of multiple congenital contractures was made in seven high-risk pregnancies on the 13rd to 17th gestational weeks. The diagnostic findings were the development of progressive subcutaneous oedema from the 13th gestational week on and the decrease of fetal limb movements.     

Prenatal treatment of fetal hydrops associated with the hypertelorism-dysphagia syndrome (opitz-g syndrome)

Non-immunological fetal hydrops diagnosed prenatally presents a difficult diagnostic and therapeutic problem. In the case presented, fetal hydrops was recognized at 19 weeks gestation and no specific cause was found prenatally in spite of extensive investigations. The fetal hydrops was treated in utero by thoracocentesis and an intravenous infusion of albumin carried out at fetoscopy. After birth the infant was recognized to have the hypertelorismdysphagia syndrome (or Opitz-G syndrome, McK no. 30710). This autosomal dominant syndrome consists of hypertelorism, laryngeal abnormalities, swallowing difficulties, hyprospadias and an imperforate anus. Fetal hydrops has been reported on one previous occasion in this syndrome. The intrauterine treatment given in this case may have been successful in reducing the neonatal complications of the Opitz-G syndrome.     

The efficacy of flecainide versus digoxin in the management of fetal supraventricular tachycardia

Fetal supraventricular tachycardia (SVT) can be successfully treated transplacentally, but in cases where fetal hydrops develops there is considerable morbidity and mortality. The present study was carried out to establish whether the introduction of flecainide altered obstetric management and fetal outcome. A retrospective analysis took place of 51 singleton pregnancies which were referred to the division of prenatal diagnosis because of fetal tachycardia between 1982 and 1993. SVT was documented in 50 out of 51 fetuses, one of which displayed a combination of extensive rhabdomyomas and severe hydrops and died shortly after referral. In the other fetus ventricular tachycardia was diagnosed. Of the remaining 49 fetuses, 14 did not receive any prenatal treatment, but nine needed postnatal treatment. Transplacental treatment of SVT took place in 35 fetuses, of which 22 presented without hydrops and 13 with hydrops. These subsets differed significantly with respect to restoration of normal sinus rhythm (73% vs. 30%; p<0.001) and mortality (0% vs. 46%; p<0.001). Digoxin was effective in restoring sinus rhythm in 55 per cent of the non-hydropic fetuses but in only eight per cent of the hydropic fetuses. Flecainide was effective in restoring sinus rhythm in all non-hydropic fetuses where digoxin treatment failed, and in 43 per cent of hydropic fetuses. Administration of flecainide resulted in a significantly reduced mortality (p<0.001) compared with digoxin treatment. No adverse effects were seen. Postnatal anti-arrhythmic treatment was necessary in 23 infants. Treatment could be withdrawn within one year in all cases but one.     

Prognosis of fetuses with a cystic hygroma

This paper reports our experience with 55 fetuses identified in utero to have a cystic hygroma. The outcome of fetuses with an isolated cystic hygroma, cystic hygroma with non-immune hydrops, and cystic hygroma with multiple anomalies was evaluated. Approximately two-thirds of karyotypes were aneuploid, and a strong association of septation and aneuploidy existed. Only five cases, four of which had isolated hygromas, came to term and resulted in live births. Two of these involved small non-septated lesions which resolved in utero.