Trisomy 10: ultrasound features and natural history after first trimester diagnosis

We report on the ultrasound features and natural history of trisomy 10. At 12 weeks' gestation in a routine scan examination, the fetus presented with increased nuchal translucency thickness, mild skin oedema, bilateral pleural effusion, marked micrognathia, cardiomegaly, unilateral talipes and reversed A-wave in the ductus venosus blood flow. Karyotyping on chorionic villus sampling (CVS) led to the diagnosis of trisomy 10, which was confirmed by fetal blood sampling at 22 weeks' gestation. As the parents opted to continue with the pregnancy, the natural history and following ultrasound features are described. This is the third case of trisomy 10 in the literature reporting on the physical features. The most frequent ultrasound findings presented in trisomy 10 are increased nuchal translucency, micrognathia, renal agenesis, facial cleft, limbabnormalities, cardiac defects and early severe growth retardation. Copyright © 2001 John Wiley & Sons, Ltd.     

Hydrops fetalis and neonatal death from human parvovirus B19: an unusual complication

A case of prenatally diagnosed human parvovirus B19 (HPVB19) infection is reported. The neonate died after intrauterine therapy and premature delivery. The fetus was diagnosed with oedema, cardiomegaly, poor myocardial contractility and a pericardial effusion at 24/40 weeks' gestation. Ultrasound using colour flow Doppler showed a midcerebral artery peak systolic velocity (MCA PSV) raised at 45 cm/s, suggesting fetal anaemia. This was confirmed on fetal blood sampling, but recovery was suggested with a reticulocyte count of 16.8%. The fetal karyotype was normal, 46,XY. Fetal IgM was positive for Parvovirus. A week later, severe fetal anaemia was suspected and intrauterine transfusion carried out. Altogether three transfusions were given. At 31/40 weeks, the mother presented to her local hospital with suspected preterm labour, a caesarean section was carried out because of fetal compromise on cardiotocography. The baby was in poor condition at birth and resuscitation was stopped at 45 min of age. The post-mortem examination confirmed the hydrops and proved persistent Parvovirus infection, cardiac involvement and severe liver fibrosis. HPVB19 generally follows a benign course with intrauterine therapy; however, in this case, the fetus died despite successful transfusions. The reasons for this are discussed. Copyright © 2005 John Wiley & Sons, Ltd.     

Fetal nuchal oedema and antenatal diagnosis of trisomy 10

Trisomy 10 was detected at amniocentesis undertaken following observation of fetal nuchal oedema. This is the first report of fetal trisomy 10 in association with nuchal oedema. The physical features of fetal trisomy 10 are described.     

Sonographic diagnosis of cystic adenomatoid malformation in-utero

Routine ultrasound examination at 30 weeks gestation revealed an intrapulmonary cystic mass in an otherwise normal fetus. Following delivery at term, the diagnosis of congenital cystic adenomatoid malformation of the right lung was confirmed, and an elective right middle lobectomy successfully performed at nine days of age.     

A rare case of cytogenetic discrepancy between extraembryonic and fetal tissue

We present a case of false-negative discrepancy between extraembryonic and fetal tissue sampled at 14 weeks of amenorrhoea when ultrasound examination showed morphological anomalies of the fetus. The same cytogenetic characteristic was confirmed on tissue samples after abortion.     

First-trimester diagnosis of hydrolethalus syndrome in a Chinese family

We report a case resembling hydrolethalus syndrome in a Chinese family. Fetal polydactyly, syndactyly, encephalocele and cardiac malformation were detected on ultrasound examination at 12 weeks' gestation. Termination of pregnancy was performed, and postmortem examination confirmed the findings. This is the first report of a first-trimester prenatal diagnosis of hydrolethalus syndrome in the Chinese population. Copyright © 2004 John Wiley & Sons, Ltd.     

Antenatal sonographic diagnosis of arthrogryposis multiplex Congenita

Arthrogryposis Multiplex Congenita (AMC) was suspected on ultrasound examination of a fetus at 30·5 weeks of gestation. The criteria for establishing this prenatal diagnosis as well as the importance of establishing the diagnosis at any gestational age are discussed. The diagnosis of AMC was confirmed at birth in this case.     

Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (arpkd) during the early second trimester

Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD was sought in the first half of pregnancy. High-resolution ultrasonography revealed echogenic, normal-sized kidneys at 15+4 weeks. Microsatellite DNA analysis of a chorionic villus sample, parental blood, and blood of an affected sibling showed that the fetus had the maternal haplotype and a recombination of the paternal haplotype. Thus, no distinction between homo- and heterozygosity for the ARPKD mutation in the fetus was possible. A further ultrasound examination at 19+4 weeks confirmed the previous results, indicating that the fetus was likely to be affected. After termination of the pregnancy, the diagnosis was confirmed on microscopic examination.     

Prenatal diagnosis of a fetus with partial monosomy 7(q34→qter) and partial trisomy 18(q21→qter)

Ultrasound examination of a 31-year-old woman at 27 weeks' gestation revealed fetal growth retardation, a bilateral cleft lip and palate, and the absence of median cerebral structures. Chromosome analysis after cordocentesis showed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7: 46,XX,—7,+der(7), t(7;18) (q34;q21.3)mat. The pregnancy was terminated at week 29. The ultrasound findings were confirmed by post-mortem examination, which also revealed a semilobar holoprosencephaly.     

Autosomal dominant polycystic kidney disease: Prenatal diagnosis by DNA analysis and sonography at 14 weeks

A pregnant woman affected with autosomal dominant polycystic kidney disease (ADPKD) had a history of an affected fetus, diagnosed by sonography at 29 weeks of pregnancy. The proband's father was also affected. DNA analysis performed on chorionic villi at 11 weeks during a second pregnancy predicted an affected fetus, and sonographic examination at 14 weeks confirmed the diagnosis.     

First-trimester prenatal diagnosis of Roberts syndrome

We present a case of prenatal detection of premature centromere separation on chorionic villi sampled at 8 weeks' gestation from a woman at risk of recurrence of Roberts syndrome. The same cytogenetic characteristic was confirmed on amniocytes at 14 weeks when ultrasound examination showed morphological anomalies of the fetus. To our knowledge, this is the first report of early prenatal diagnosis of Roberts syndrome.     

The use of amniotic FSH levels in resolving a discrepancy between fetal chromosomal and phenotypic sex

We report a case in which a discrepancy emerged between the prenatal diagnosis of female chromosomal sex and male sex at ultrasound examination. The FSH dosage performed on an amniotic fluid sample previously stored confirmed the male phenotype of the fetus. The effectiveness of the AF-FSH level dosage in prenatal diagnosis was taken into consideration.     

Meckel-Gruber syndrome: Prenatal diagnosis at 10 menstrual weeks using embryoscopy

A case of Meckel—Gruber syndrome was diagnosed by embryoscopy at 10 menstrual weeks, allowing for early termination of pregnancy. Post-mortem examination confirmed the presence of polydactyly and bilateral cystic lesions of the mesonephros and metanephros. Both the forming nephrons and the collecting ducts were involved in the formation of renal cysts.     

Prenatal ultrasound diagnosis of Apert's syndrome

A mother affected with Apert's syndrome was diagnosed by ultrasound scan at 16–17 weeks to have a fetus similarly affected. The typical features of acrocephaly and symmetrical syndactyly were seen. This is probably the first time that this condition has been diagnosed at such a gestation by ultrasound scan. The patient decided to continue the pregnancy, and intrauterine death occurred at 34 weeks. The diagnosis was confirmed by pathological examination.     

Prenatal detection of monosomy 21 mosaicism

We report a case of chromosomal mosaicism for monosomy 21 revealed in amniotic fluid cell culture. Ultrasound examination at 19 weeks' gestation showed in utero growth retardation and a complex cardiac malformation. A repeated amniocentesis confirmed the presence of monosomy 21 mosaicism. In view of the sonographically detected fetal abnormalities, termination of pregnancy was elected.     

Fetal hydrops caused by a novel pathogenic MECOM variant

We report a fetus with hydrops, congenital heart disease and bilateral radioulnar synostosis caused by a novel pathogenic MECOM variant. The female fetus was referred for post-mortem examination after fetal hydrops and intrauterine death was diagnosed at 20 weeks gestation. Post-mortem examination confirmed fetal hydrops, pallor, truncus arteriosus and bilateral radioulnar synostosis. Trio whole genome sequencing analysis detected a novel de novo heterozygous pathogenic loss-of-function variant in MECOM (NM_004991), associated with a diagnosis of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 (RUSAT-2). RUSAT-2 is a variable condition associated postnatally with bone marrow failure, radioulnar synostosis and congenital anomalies. RUSAT-2 is not currently associated with a prenatal phenotype or fetal demise, and was not present on diagnostic NHS prenatal gene panels at time of diagnosis. This case highlights the diagnostic value of detailed phenotyping with post-mortem examination, and of using a broad sequencing approach.     

Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung by fetal lung biopsy

A case of type III congenital cystic adenomatoid malformation of the lung was successfully diagnosed prenatally by fetal lung biopsy. We performed this procedure at 22 weeks of gestation, using a biopsy gun system under ultrasound guidance. The pregnancy was undisturbed by the procedure but as the condition was incompatible with life, an abortion was performed. The diagnosis was confirmed at post-mortem examination. Fetal lung biopsy appears to be a useful method for prenatal diagnosis of fetal lung disorders.     

Aneuploidy and cystic hygroma detectable by ultrasound

During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY+21 and 47XX+18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultrasound, affecting particularly the back of the neck, may be a commoner manifestation of several aneuploid syndromes than has hitherto been recognized.     

Normal second-trimester amniotic fluid alphafetoprotein and acetylcholinesterase associated with fetal sacrococcygeal teratoma

Amniocentesis was performed at 19 weeks' gestation on a patient with two sequential serum alphafetoprotein values above 2 times median. Ultrasound examination suggested a possible sacrococcygeal teratoma. However, both amniotic fluid alphafetoprotein and acetylchol-inesterase were normal, and the patient elected to continue her pregnancy. At 24 weeks fetal demise was confirmed, and prostaglandin induction of labour produced a macerated female fetus with a large sacrococcygeal teratoma.     

Prenatal diagnosis of mandibulofacial dysostosis

Four fetuses at risk of the autosomal dominant Treacher—Collins syndrome were examined by fetoscopy in the second trimester of pregnancy. Findings were normal in two cases and healthy babies were delivered after uneventful pregnancies. Mandibular hypoplasia and abnormalities of the palpebra and auricles were seen in the other two fetuses; one had an associated cleft palate. These pregnancies were terminated and the diagnoses confirmed by post-mortem examination.