Ultrasound demonstration of masses in a 15 week fetus: Hydrops in a fetus with umbilical cord occlusion

A fetal abnormality detected at 15 weeks by ultrasound consisted of cystic appearing masses in the neck and back region. The differential diagnosis included gonadal dysgenesis (Turner's syndrome) with cystic hygroma, neural tube defect, e.g. encephalocele or meningomyelocele, and fetal hydrops. Intrauterine fetal demise occurred at 17 weeks. The fetus had marked edema possibly related to umbilical cord occlusion.     

Congenital cervical teratoma,associated with agenesis of corpus callosum and a subarachnoid cyst

Cervical teratoma is a neoplasm composed of embryonic tissues with representation of all three germ layers. We report an extremely rare case of fetal cervical teratoma presenting at 24 weeks of gestation. A submaxillary mass and agenesis of corpus callosum were identified on ultrasonography, associated with agenesis of corpus callosum and a subarachnoid cyst. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal diagnosis of acute bladder distension associated with fetal sacrococcygeal teratoma—a case report

A case report of sacrococcygeal teratoma prenatally diagnosed at 23 weeks of amenorrhea, subsequently causing dilatation of both lower and upper urinary tracts is presented. The importance of repeated ultrasonographic evaluation of fetuses with sacrococcygeal teratoma is discussed.     

Evaluation of routine prenatal diagnosis by a registry of congenital anomalies

Prenatal diagnosis performed by ultrasound scan is now a routine part of prenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In a previous study (Prenat. Diagn., 12 , 263–270, 1992), considering the period 1979–1988, we have shown that prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. In 1991 and 1992, the percentatge of termination for Down syndrome was 44.4 and 41.9 per cent, respectively. From 1989 to 1992, the detection rate and the specificity of prenatal diagnosis by ultrasonographic examination were improved. The detection rate for isolated malformations (fetuses with only one anomaly) and for multiple malformed children was 26.2 and 66.0 per cent, respectively. The detection rate of congenital anomalies by ultrasonography was variable for the different categories of malformation. A high detection rate was observed for anencephaly (100 per cent) and urinary tract malformation. A low detection rate was seen for cleft lip (17.5 per cent) and limb reduction defects (18.2 per cent).     

Prenatal diagnosis of werdnig-hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers

We present a case of prenatal diagnosis of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy (SMA). DNA obtained from a mummified umbilical cord of a deceased affected brother of the index case was analysed with four closely linked microsatellite markers [EF1/2a and EF13/14 (D5S125), MAP1B, and JK53CA (D5S112)], flanking the SMA gene, on chromosome 5q11·2-13·3. The fetus was diagnosed as homozygous for the deleterious SMA gene.     

Semilobar holoprosencephaly in a 46,XY female fetus

We report the prenatal echographic diagnosis of holoprosencephaly (HPE) at 11 weeks' gestation. Fetopathological examination revealed an unusual variant of semilobar HPE with middle interhemispheric fusion associated with sex-reversal: 46,XY normal male karyotype, normal external and internal female genitalia and streak gonads. Copyright © 2001 John Wiley & Sons, Ltd.     

Conceiving a fetus for bone marrow donation: An ethical problem in prenatal diagnosis

We present a family who sought prenatal diagnosis in order to bear a healthy child to serve as an HLA–identical bone marrow donor for their son affected with Wiskott–Aldrich syndrome. They intended to abort HLA-incompatible fetuses who would have been unsuitable bone marrow donors. This case led us to conclude that prenatal diagnosis should not be used to benefit a third party or facilitate the conception or abortion of a fetus for the purpose of generating an organ for transplantation. The limits of parental autonomy and physician responsibility are discussed.     

Gorlin syndrome (naevoid basal cell carcinoma syndrome): Prenatal detection in a fetus with macrocephaly and ventriculomegaly

The Gorlin (naevoid basal cell carcinoma) syndrome is an autosomal dominant disorder consisting principally of naevoid basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and intracranial calcification. We report the prenatal detection of the Gorlin syndrome by ultrasonography in a fetus with macrocephaly and mild ventriculomegaly.     

Recurrent congenital toxoplasmosis in a woman with lupus erythematosus

We describe the case of a patient with systemic lupus erythematosus, treated by corticosteroids, who presented during two successive pregnancies with serological reactivation of toxoplasmosis associated with fetal lesions. The first infected fetus died in utero with signs of hydrops. The second fetus was treated in utero with a combination of sulfadoxine and pyrimethamine, administered to the mother, and is now well. The increasing number of immunocompromised pregnant patients with immunity to Toxoplasma gondii may lead to a higher risk of reactivation of maternal toxoplasmosis and congenital infection.     

Paralytic ileus in a fetus–neonate after maternal intake of benzodiazepine

Paralytic ileus of the small bowel was diagnosed in a fetus at 32 weeks' gestation after referral because of polyhydramnios. The mother had taken clonazepam, a benzodiazepine, and carbamazepine during the entire pregnancy for epilepsy. All known causes for the ileus were ruled out and at 20 months the boy has developed normally. We conclude that maternal anticonvulsant drug intake was very likely the cause of the paralytic ileus. This side-effect is known in experimental and clinical pharmacology but has not yet been described in human fetuses.     

Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis

Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.     

Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation

We present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur—fibula—ulna (FFU) complex. To our knowledge, this is the first report of an early prenatal diagnosis of FFU.     

Spontaneous cessation of umbilical blood flow in the acardiac fetus of a twin pregnancy

The acardiac fetus is a rare entity found only in monozygotic multiple pregnancy. Although the acardiac fetus is non-viable, the perinatal mortality rate for the normal fetus may be as high as 50 per cent, and is usually associated with fetal heart failure and hydrops fetalis, or as the result of prematurity. In this communication, we describe a case of spontaneous cessation of blood flow to an acardiac fetus and discuss the management of this condition with special reference to optimizing the outcome for the normal fetus.     

Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida

Rhizomelic chondrodysplasia punctata (RCDP) is a sublethal autosomal recessive disorder characterized by skeletal dysplasia, microcephaly, mental retardation, congenital cataracts, joint contractures, skin changes, and failure to thrive. Prenatal ultrasound diagnosis has been reported during the second trimester of pregnancy. Prenatal diagnosis is also possible from the first trimester onwards by demonstration of peroxisomal dysfunction in cultured chorionic villous or amniotic fluid cells. In all cases reported hitherto, the prenatal diagnosis was established after the birth of a previous affected child. In contrast to these studies in pregnant multiparous women at risk for RCDP, we report on the first case of prenatal ultrasound diagnosis of RCDP at 19 weeks' gestation in a primigravida. In addition, a complex cardiac malformation associated with hypoplasia of the thymus (DiGeorge anomaly) is described.     

Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

Probable exclusion of juvenile neuronal ceroid lipofuscinosis in a fetus at risk: An interim report

In a family with two children affected by juvenile neuronal ceroid lipofuscinosis (JNCL) an attempt was made at the prenatal diagnosis of the disorder. The following tissues from the fetus at risk were investigated by electron microscopy and were found to be free of fingerprint profiles and curvilinear bodies, typical for JNCL: uncultivated amniotic fluid cells, lymphocytes isolated from fetal blood, and fetal skin biopsy specimens. The child was born at the 34th week of gestation and was clinically normal at the age of 15 months. Postnatally, lymphocytes (isolated at the age of 6 and 15 months) and skin tissue (taken at the age of 15 months) were found to be morphologically normal. It is highly unlikely that the child is affected but definite proof of the absence of JNCL remains difficult at this age.