Fetal cholecystomegaly: A prenatal marker of aneuploidy

The fetal gall bladder can now be easily identified during the second and third trimesters using high-resolution ultrasonography. In this report we present eight fetuses with an enlarged gall bladder detected on prenatal ultrasonography at a mean gestational age of 24.6 weeks (range 19–31 weeks). Additional ultrasonographic findings were present in four cases: fetal anomalies and intrauterine growth retardation in three and polyhydramnios in one. Of those cases associated with fetal anomalies, one woman underwent amniocentesis at 21 weeks revealing trisomy 18. The other two declined prenatal karyotyping; neonatal karyotyping revealed trisomy 13 in one and trisomy 18 in the other. Although an enlarged fetal gall bladder can be a normal variant in the second and third trimesters, the prenatal detection of cholecystomegaly should prompt a search for associated anomalies and other markers of aneuploidy. If found, prenatal karyotyping should be considered.     

Prenatal diagnosis of campomelic dysplasia by ultrasonography

Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th week of gestation. This was confirmed in the 18th week. The pregnancy was terminated and the fetus showed the typical radiological, anatomical and histological findings.     

Sonographic markers of exencephaly below 10 weeks' gestation

We report two cases of exencephaly diagnosed by transvaginal ultrasonography at 8 weeks 4 days and at 9 weeks 3 days of gestation. Both cases presented an irregular cephalic pole, and, in the case seen at 8 weeks 4 days, brain vesicles were also absent, whereas in the case seen at 9 weeks 3 days, the midline echo was indistinguishable with disorganized choroid plexuses. In both cases, anencephaly was evident at 11 and 12 weeks' gestation and the postmortem confirmed the diagnosis. Copyright © 2005 John Wiley & Sons, Ltd.     

Anatomic correlates of ultrasonographic prenatal diagnosis

In utero sonographic diagnoses from forty-five malformed infants were correlated with their autopsy findings. Fifty-two malformations were diagnosed prenatally in 42 of the patients but 90 additional malformations were not. Nine sonographically diagnosed abnormalities were not confirmed at autopsy. Factors compromising sonographic diagnosis included: limited examinations, small fetal size, timing of examination, oligohydramnios, fetal position, nature of the malformation and unfamiliarity of the ultrasonographer with specific malformation syndromes. In vitro ultrasonography is an invaluable tool of diagnosing congenital malformations but has limitations.     

Prenatal detection of the autosomal dominant type of congenital hydronephrosis by ultrasonography

We report a family with clearly defined two generation, and probable four generation uropathy due to a congenital malformation of the genitourinary system. There appears to be variation in expression within this family and a severely affected fetus was detected by ultrasonography at 31 weeks gestation.     

Prenatal diagnosis of anatomical connections in conjoined twins by use of contrast magnetic resonance imaging

Omphalopagus conjoined twins were diagnosed by ultrasonography in a pregnant woman at 21 weeks' gestation. In order to clarify the anatomical connections, magnetic resonance imaging (MRI) was performed, having achieved fetal paralysis by intravascular injection of 100 mg of pancuronium into each twin. Prior to MRI, 2 ml of a 0.0001 mmol/ml solution of gadolinium DTPA was also injected into the stomach of one twin. The contrast agent opacified the bowel loops of both twins, indicating bowel to bowel anastomosis. Following pregnancy termination, autopsy confirmed the prenatal diagnosis.     

Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation

Prenatal diagnosis of heterozygous achondroplasia at 25 weeks is described. First-level fetal ultrasonography demonstrated short long bones of the lower limbs. Second-level examination showed a large head; shortened femur, fibula, and tibia; a ‘trident’-shaped hand; and an abnormal facial profile.     

Third trimester ultrasound diagnosis of intestinal atresia following clinical evidence of polyhydramnios

Five cases of intestinal atresia were diagnosed using real-time ultrasonography following clinical evidence of polyhydramnios. No correlation was noted between ultrasound findings and the severity of the lesions. Two of the five babies died at 35 and 77 days respectively. Prematurity and presence of other abnormalities were factors in the deaths.     

Prenatal transvaginal diagnosis of the ectrodactyly,ectodermal dysplasia,cleft palate (EEC) syndrome

Transvaginal ultrasonography performed at 14 weeks' gestation demonstrated a bilateral cleft lip and lobster-claw deformities of the hands and feet, in keeping with the diagnosis of EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip and palate). The fetus was aborted and the diagnosis of EEC syndrome was confirmed.     

Prenatal diagnosis of dilated coronary sinus with persistent left superior vena cava in a fetus with trisomy 18

A case of dilated coronary sinus with persistent left superior vena cava diagnosed at 33 weeks in a fetus with trisomy 18 is reported. The features of this cardiac anomaly on prenatal ultrasonography and its association with trisomy 18 are discussed. Published in 2003 John Wiley & Sons, Ltd.     

Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers

Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder resulting in short stature and hypoplasia of hair. Associated features include impaired T-cell-mediated immunity, deficient erythropoiesis, gastrointestinal dysfunction, and an increased risk of malignancies. As the condition may, in some cases, be severe or even fatal during childhood, families with a previous history of CHH may wish to have prenatal diagnosis. We have previously assigned the gene for CHH to the proximal 9p by linkage analysis using several polymorphic DNA markers. Here we report the prenatal testing for CHH in three Finnish and one Australian family using three DNA markers closely linked to the CHH gene. In three cases a fetus unaffected with CHH was predicted at the probability level of more than 94 per cent. In one case, an affected fetus was predicted. The results were in concordance with ultrasonography performed for all fetuses. The three children born to date were unaffected as predicted. The DNA marker-based analysis thus provides a useful method for early prenatal testing for CHH.     

Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: The diagnostic role of prenatal ultrasonography

Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is a rare congenital disease in which localized or widespread areas of skin are absent at birth. Alpha- fetoprotein (AFP) and skin biopsy have been used for prenatal diagnosis of this condition. A patient in whom normal levels of amniotic AFP at 16 weeks' gestation presumably excluded the disease and who was at risk for aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is described. However, 10 weeks later, ultrasonographic examination revealed hydramnios, a dilated stomach, a deformed external ear, and a contracted fisted hand. All signs were confirmed postnatally. The role of ultrasonography and the value of other diagnostic methods in this congenital disease are discussed.     

Two- and three-dimensional ultrasound in malformations of the medullary canal: report of four cases

A comparison between two-dimensional (2D), and three-dimensional (3D) ultrasonography was made in four fetuses diagnosed with neural tube defect (NTD) in the first half of pregnancy. 3D ultrasonography (orthogonal and multiplanar systems) proved to be an excellent complement to 2D, particularly when using orthogonal planes. When using the 3D multiplanar surface imaging system, excellent images of the malformations can be rapidly obtained. Copyright © 2001 John Wiley & Sons, Ltd.     

Early second-trimester diagnosis of sirenomelia

Two cases of sirenomelia are described, detected in the 14th and 16th weeks of gestation by transvaginal ultrasonography. A hypothesis for the aetiology of sirenomelia and its associated anomalies is discussed.     

Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure

In the context of a prospective study on the adverse effects of anti-epileptic drugs on fetal outcome, we evaluated our experience with prenatal diagnosis by ultrasonography and α- fetoprotein (AFP) determination in amniotic fluid. We compared these results with AFP values in maternal serum obtained prior to amniocentesis. From November 1985 to July 1990, amniocentesis at 16–18 weeks of gestation was performed in 267 pregnancies of 237 different women using anti-epileptic drugs. Among 92 pregnancies with maternal valproic acid use, five (including one concordantly affected monozygotic twin-pair) were terminated because of a spina bifida aperta, all prenatally diagnosed by AFP determination and acetylcholinesterase electrophoresis in amniotic fluid. The maternal serum AFP level was raised (⩾ 2.5 multiples of the median (MOM) for singleton pregnancies and ⩾ 4.5 MOM for twin pregnancies) in only two of these five affected pregnancies. We emphasize that maternal serum AFP levels may be unreliable for prenatal screening for fetal neural tube defects in women taking valproate and recommend that amniocentesis and fetal ultrasound examination should be offered directly.     

A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)

A case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28-year-old woman referred to us at 26 weeks' gestation because of hydramnios. The fetus was shown on ultrasonography to have an omphalocele and a short femur length. Labour was induced at 32 weeks. An infant with multiple congenital anomalies was delivered and died after 10 min. The diagnosis of i(12p) or Pallister-Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures. Increased LDH-B activity was demonstrated in fibroblasts.     

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.     

Magnetic resonance image findings of placental lake: report of two cases

Two cases with a large cystic mass within the placenta are reported. By ultrasonography, it was found that both women had a subchorionic hypoechoic lesion (11.0 × 4.8 × 4.0 cm and 6.6 × 3.7 × 2.2 cm, respectively) at 24 and 35 weeks of gestation, respectively. In both cases, turbulent blood flow generated by a pulsatile jet flow (pulse rate; 40 to 60 beats per minute) into the cystic lesion seen on real-time imaging and lesions being low intensity on T1-weighted and isointensity on T2-weighted magnetic resonance image suggested that they contained fresh maternal blood. In both cases, the sonolucency of the lesions did not change until cesarean deliveries of females, both of whom were small-for-gestational-age infants (1940 g at 37 weeks and 2195 g at 37 weeks, respectively). Biochemical analysis of the fluid in the cystic lesion sampled during the cesarean section in the latter case confirmed that the fluid had originated from the maternal blood. These lesions histologically corresponded to large avillous areas surrounded by normal villi. Thus, a huge placental lake was diagnosed in both cases. Copyright © 2005 John Wiley & Sons, Ltd.     

The development of the fetal eye: In utero ultrasonographic measurements of the vitreous and lens

Our objective was to establish nomograms for fetal eye measurements from 12 weeks' gestation by using transvaginal and transabdominal high-resolution ultrasound techniques. A prospective cross-sectional study was performed on 450 normal singleton pregnancies between 12 and 37 weeks' gestation. Vitreous and lens circumferences were measured by transvaginal ultrasonography until 17 weeks, and by abdominal ultrasound between 18 and 37 weeks' gestation. Regression analyses were used to create nomograms, and several transformations were done to obtain linearity. Eye measurements of 12 fetuses at risk for ocular disturbances were plotted on the constructed nomograms. Linear relationships were fitted between vitreous (r²=0.79) and lens (r²=0.88) circumferences and gestational age. In addition, there was a significant correlation between these measurements and the biparietal diameter. Data of the fetuses at risk showed that disturbances in ocular growth were associated mainly with abnormal cerebral development. These normative data may be helpful in the prenatal diagnosis of suspected congenital syndromes that include, among their manifestations, ocular growth disturbances such as microphthalmos and anophthalmos.     

Intrauterine brain teratoma: a case report of imaging (US,MRI) with neuropathologic correlations

Fetal brain tumors are rare and teratoma is considered as the most common. Fetal MR Imaging is currently used to evaluate cases of ventricular dilatation. We report a case of cerebral immature teratoma detected by ultrasonography because of ventricular dilatation at 24 gestational weeks. MRI was the more accurate imaging method in depicting the tumor and its consequences on brain development as well as in taking a decision with regard to the management of pregnancy. Copyright © 2003 John Wiley & Sons, Ltd.