Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome

A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neonatal complications, such as hypoglycaemic episodes, were prevented.     

Sacrococcygeal teratoma: Prenatal diagnosis with elevated alphafetoprotein and acetylcholinesterase in amniotic fluid

A sacrococcygeal teratoma was suspected by ultrasound examination at 24 weeks gestation. The amniotic fluid alphafetoprotein was markedly elevated, as was maternal serum AFP. Gel electrophoresis of amniotic fluid showed an acetylcholinesterase band. Labour began at 25 weeks gestation and the chromosomally normal male fetus was found to have a sacrococcygeal teratoma equal to three-quarters of the weight of the fetus.     

Unexpected ultrasonographic prenatal diagnosis of autosomal dominant polycystic kidney disease

The prenatal diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is now being reported with increasing frequency. We report three cases and review 12 cases of ADPKD diagnosed in the fetus by ultrasonographic findings. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ADPKD. Renal cysts are uncommon. Diagnosis is easy in a family with a positive ADPKD history. Conversely, there may be no apparent family history, as in our three cases and three cases from the literature. We consider the problems of unexpected diagnosis, family investigation, and the prognosis of ADPKD in children with prenatally diagnosable forms.     

Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; Report of two cases

Two cases of harlequin ichthyosis were successfully diagnosed prenatally by fetal skin biopsy. The aborted fetuses were later confirmed to be afflicted with this very unusual skin disease. Both families had a previous history of harlequin ichthyosis. In performing the biopsy, it was found that amniotic fluid cytology can also be very helpful in the diagnosis of this kind of severe ichthyosis. With regard to these families, the disease may have been transmitted in an autosomal dominant fashion, and not in a recessive manner as is commonly believed.     

Prenatal diagnosis of autosomal dominant polycystic kidney disease using flanking DNA markers and the polymerase chain reaction

A prenatal diagnosis was carried out on a 9-week-old fetus at risk for autosomal dominant polycystic kidney disease (ADPKD). Ten members of the family were previously typed using five DNA markers linked to the PKD1 locus on chromosome 16, and one marker linked to the putative PKD2 locus on chromosome 2. The polymerase chain reaction (PCR) was used to amplify the D16S125 locus. Pairwise and multipoint lod scores indicated that the family was most likely segregating a PKD1 mutation. The fetus inherited the disease haplotype from the affected parent. Diagnostic accuracy was greater than 99 per cent, taking into account the possibility of genetic heterogeneity.     

Prenatal ultrasound detection of humero-radial synostosis in a case of antley-bixler syndrome

The Antley-Bixler syndrome is characterized by multiple skeletal fusions including humero-radial synostosis, anterior bowing of the femora, cardiac and renal malformations and a high incidence of early postnatal lethality. In the pregnancy of a mother who had previously given birth to a child with the Antley-Bixler syndrome, prenatal ultrasound diagnosis was performed at 17 and 20 weeks. Fixed flexion of about 80° in both elbows was seen together with humero-radial synostosis and bowing of the ulnae. The fetus performed jerky cranio-caudal movements in its shoulders, but did not, during five hours of real-time observation, move at all in the elbows. Mild anterior bowing of the femora was also observed. The pregnancy was terminated at 21 weeks, and radiological examination of the female fetus confirmed the above mentioned findings including complete bilateral humero-radial synostosis. She also had cardiac and renal malformations. An ultrasound diagnosis of syndromes which have humero-radial synostosis as one feature is possible. Immobility and flexion in the elbows during a long period is probably the essential diagnostic finding.     

Prenatal diagnosis of mucopolysaccharidosis by two-dimensional electrophoresis of amniotic fluid glycosaminoglycans

Amniotic fluid from 72 pregnancies at risk for mucopolysaccharidosis have been analysed for glycosaminoglycans (GAG) by means of two-dimensional electrophoresis. Definite results were obtained in all cases and required only 3 days to report. Of the 66 cases for which GAG analysis was accompanied by enzyme assays on cultured amniotic fluid cells, there was agreement of results in 65. In the one case of disagreement the result of GAG analysis proved to be correct. Fourteen pregnancies were predicted to be affected and the predictions were confirmed by studies on fetal tissues and/or cultured cells, or in one case the birth of an affected infant. Of the 58 pregnancies predicted to be unaffected, 48 have so far gone to term and produced healthy infants. There have been no false negative predictions. The analytical method is simple, rapid, and, in this study, has been found completely reliable for prenatal diagnosis.     

Prenatal diagnosis of cleft lip and palate by ultrasound

Bilateral cleft lip and cleft palate can be diagnosed by ultrasonography prior to 20 weeks of pregnancy. The anomaly produces an abnormal facial profile and, on cross-section, the clefts in the maxilla are demonstrable. The method is illustrated by sonograms from a fetus in which the defect was diagnosed before trisomy 13 became known by karyotyping.     

Prenatal diagnosis of congenital gastric outlet obstruction

A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented.     

Aseptically collected calf serum as an effective alternative to fetal calf serum in the culture of amniotic fluid cells

The growth-promoting activities of three different bovine sera have been compared in primary and secondary amniotic fluid cell cultures. In secondary amniotic fluid cell micro- cultures, aseptically collected calf serum (CS) was slightly, though not significantly more effective than fetal calf serum (FCS) in promoting DNA synthesis, while newborn calf serum (NCS) was significantly less effective than either CS or FCS. All three sera were optimally effective at concentrations of 10 per cent (v/v). Significant variation in quality occurred within four batches of each of CS and FCS, but not within four batches of NCS. A selected batch of CS was significantly more effective in promoting the growth of primary amniotic fluid cell cultures than were a number of batches of FCS then in routine laboratory use. It is suggested that CS may serve as an effective and economical alternative to FCS in the culture of amniotic fluid cells, thereby expanding the scope of serum batch testing. A possible explanation for the varying growth-promoting activities of different sera is discussed.     

Prenatal detection of congenital hypospadias in the wolf-hirschhorn (4p —) syndrome

Hypospadias is one of the most prominent and characteristic midline defects in male infants with the Wolf-Hirschhorn (4p —) syndrome. In this report we present a case in which hypospadias was identified prenatally at 29 weeks' gestation in association with intrauterine growth retardation. Cytogenetic evaluation after birth confirmed a 46, XY, del(4)(p14) karyotype. The prenatal identification of hypospadias in fetuses with intrauterine growth retardation and normal amniotic fluid should suggest a diagnosis of Wolf-Hirschhorn syndrome.     

Prenatal diagnosis of distal arthrogryposis type I by ultrasonography

Two consecutive pregnancies in a woman with initially undiagnosed type I distal arthrogryposis (DA) are reported. A prenatal diagnosis of the condition was made by ultrasound in the 17th week of gestation in one of the pregnancies, whereas in the subsequent pregnancy the disorder was excluded as early as 13 weeks' gestation. The diagnoses were verified at birth. The feasibility of prenatal diagnosis of DA type I in the second trimester is thus confirmed and its possibility in the late first trimester is suggested.     

Prenatal detection of the congenital nephrotic syndrome (Finnish type) by trehalase assay in amniotic fluid

We report relatively high trehalase activity in the amniotic fluid of two fetuses affected with the congenital nephrotic syndrome of the Finnish type. The results suggest that prenatal detection of this condition can be done on this basis in conjunction with the α-fetoprotein and acetylcholinesterase tests in amniotic fluid.     

Prenatal diagnosis of congenital epulis by three-dimensional ultrasound and magnetic resonance imaging

Congenital epulis is a benign intraoral tumor that has rarely been diagnosed prenatally. We report a fetus with congenital epulis diagnosed by three-dimensional (3-D) ultrasound and fetal magnetic resonance imaging (MRI) at 35 weeks' gestation. We show an image of congenital epulis using a new ultrasound technique, the 3-D multislice view, which shows images similar to CT or MRI. This is a short case report of congenital epulis diagnosed prenatally by 3-D ultrasound using multislice view and MRI. Copyright © 2006 John Wiley & Sons, Ltd.     

Prenatal diagnosis of congenital mesoblastic nephroma in mid-second trimester by sonography and magnetic resonance imaging

Although congenital mesoblastic nephroma (CMN) is a rare benign congenital renal tumor, it is the most common solid renal tumor in the newborn period. The most common presentation of congenital mesoblastic nephroma is polyhydramnios, and only one case with prenatal fetal hydrops has been previously reported. Prenatal diagnosis of CMN has previously been made on the basis of the findings of sonography in the third trimester, and magnetic resonance imaging (MRI)–based diagnosis has been reported recently. Here we report a case of prenatally diagnosed classical type CMN diagnosed at 22 + 3 weeks of gestation based on the findings of sonography and magnetic resonance imaging. The characteristic imaging findings in this case were fetal hydrops and polyhydramnios. To our knowledge, this is the youngest reported gestational age for prenatal diagnosis of CMN and it is the second case of CMN associated with fetal hydrops detected prenatally. Copyright © 2003 John Wiley & Sons, Ltd.