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.     

In utero development of a mediastinal teratoma: A second-trimester event

Mediastinal teratomas have rarely been discovered during the prenatal period. When seen during the neonatal period, these tumours have caused respiratory distress or hydrops fetalis. We present the sonographic and pathological findings of a rapidly developing anterior mediastinal teratoma causing hydrops fetalis and in utero demise at 27 weeks' gestation.     

Maternal serum biochemical markers in pregnancies with fetal parvovirus B19 infection

Hydrops fetalis and fetal death caused by fetal parovirus B19 infection have been reported to be associated with elevated maternal serum alpha-fetoprotein (AFP), based on a total of six cases. It has been suggested that the absence of AFP elevation may be reassuring. Maternal serum levels of the Down syndrome screening markers unconjugated oestriol and human chorionic gonadotropin in cases of fetal parvovirus infection have not been previously reported. We report four cases of hydrops fetalis and fetal death caused by fetal parvovirus infection, each with unremarkable second-trimester levels of AFP, unconjugated oestriol, and human chorionic gonadotropin.     

Alpha-thalassaemia prenatal diagnosis by two PCR-based methods

In Cyprus all couples carrying α⁰-thalassaemia mutations are detected in the course of the thalassaemia carrier screening program and prenatal diagnosis is offered to all of them. Prenatal diagnosis for α-thalassaemia is routinely done by two independent molecular methods. With the first method, the mutations of the parents are directly determined by gap-PCR and then the chorionic villus sample (CVS) is examined for the presence of these mutations. With the other method, a (CA)_n repeat polymorphic site located between the ψα₁- and α₂-globin genes is used for determining the presence or absence of the normal and mutant alleles. In the period from 1995 to 1999, molecular analysis of 46 couples in which haematological data were consistent with deletion of two α-globin genes in both partners indicated that only 13 of them were actually at risk for haemoglobin (Hb) Bart's hydrops fetalis and prenatal diagnosis was provided in 16 pregnancies. The molecular diagnosis was possible in all cases with the use of both gap-PCR and (CA)_n repeat polymorphisms analysis. No misdiagnosed cases for α-thalassaemia have been reported to date. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of laryngeal atresia

Prenatal diagnosis of congenital atresia of the larynx is difficult but is possible by the findings of increased lung echogenicity and size coexisting with fetal ascites in ultrasonography. Sonographic findings may not always be typical. We report on a case of congenital laryngeal atresia diagnosed prenatally by the findings of fetal hydrops and hyperechogenic lungs. Our case presented with oligohydramnios. We also review syndromes that demonstrate laryngeal anomalies. Copyright © 2003 John Wiley & Sons, Ltd.     

Pericardial teratoma complicated by hydrops: successful fetal therapy by thoracoamniotic shunting

Pericardial teratoma is a potentially curable lesion that may become life threatening when it induces mediastinal compression and fetal hydrops. So far, cases with fetal hydrops have been managed by elective delivery or pericardial needle decompression. We report a case in which pericardial teratoma resulted in fetal hydrops. Following transpleural needling of the fetal pericardium at 29 weeks and 6 days, pericardial effusion decreased but hydrops persisted, while major unilateral pleural effusion appeared. A thoracoamniotic shunt was placed at 30 weeks and 5 days. Hydrops resolved, although incompletely. The baby was delivered at 32 weeks and was operated upon on day 3. This observation suggests that fetal hydrops associated with pericardial teratoma may improve following thoracoamniotic shunting. Fetal therapy may limit the risks of respiratory distress arising from the combined effect of airways compression and lung immaturity. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal diagnosis of 47,XX,der(15)t(15;16)(q13;p13.2)

A case of prenatally detected partial trisomy 15 and 16 is reported. Amniocentesis was performed at 14 weeks' gestation because a 6-mm nuchal translucency was detected on a dating ultrasound evaluation. Karyotype from amniocytes was suspect of an aberration concerning a marker chromosome. FISH analysis demonstrated that this marker chromosome was a der(15). A maternal chromosomal rearrangement t(15;16)(q13;p13.2) was confirmed. At birth, the proband was severely hydropic and had dysmorphic features, which included hypertelorism, micrognathia, incomplete separation of the maxilla and mandible, hyperflexed hands with overlapping fingers, hyposegmented right lung, and a single umbilical artery. Copyright © 2004 John Wiley & Sons, Ltd.