Prenatal diagnosis of pelvic kidney

A 30-year-old woman had serial ultrasound scans from 28 weeks' gestation which revealed the presence of a cystic area in the fetal pelvis. The ‘cyst’ remained unchanged until delivery at 41 weeks. Fetal growth and amniotic fluid volume were normal throughout. A pelvic kidney was confirmed at birth. The differential diagnosis and antenatal management of this ‘cyst’ are discussed.     

Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery

A 46,XX; 47,XX,+9; 47,XX, + ?mar karyotype was detected in an amniotic fluid cell culture and confirmed in a subsequent fetal blood sample from a 40-year-old woman. After termination of the pregnancy, none of the 186 mitoses obtained from a second blood sample was trisomic for chromosome 9 (p<0.001). Selection against cells containing trisomy 9 is postulated to explain the disappearance of the lymphocyte clone.     

Prenatal diagnosis of genetic microcephaly

True microcephaly can be diagnosed at an early stage of gestation by serial measurements of fetal head growth as demonstrated by this case report in which the diagnosis of genetic microcephaly was made but termination refused. True microcephaly was evident at birth.     

Expanding multiple marker screening for Down's syndrome to include Edward'S syndrome

Information on maternal age and maternal serum alpha-fetoprotein, unconjugated oestriol (uE₃), and human chorionic gonadotrophin (hCG) levels was used to investigate retrospectively the effect of estimating Edward's syndrome risk in women having multi-marker screening for Down's syndrome. The screened population comprised 15 pregnancies affected by Edward's syndrome, 15 with Down's syndrome and 5472 unaffected pregnancies. The use of all three markers to estimate Edward's syndrome risk would have led to the detection of 10–12 (67–80 per cent) cases with a false-positive rate of 0.3–0.6 per cent depending on the risk cut-off. A further case would have been detected as a result of screening for Down's syndrome alone. Similar results were obtained when the Edward's syndrome risk was based on uE₃ and hCG only. These data suggest that extending Down's syndrome screening to include Edward's syndrome risk will yield a high detection rate with only a small increase in the false-positive rate.     

Serum PAPP-A measurements in first-trimester screening for Down syndrome

Serum PAPP-A measurements taken from 254 women in the first trimester are reported. Eleven chromosomal abnormalities were detected. The mean serum PAPP-A levels in cases of Down syndrome were 0.44 MOM at 9 weeks gestation, 0.15 MOM at 10 weeks, and 0.29 MOM at 11 weeks. The PAPP-A level at 10 weeks was below those of pregnancies which aborted spontaneously. At 11 weeks, the pregnancies with Down syndrome recorded the lowest PAPP-A levels at that gestation. On this small sample, offering chorionic villus sampling to women with singleton pregnancies and a PAPP-A level below 0.3 MOM (approximately 6.5 per cent of this at-risk group) would have detected all the Down syndrome fetuses at 10 weeks and 50 per cent at 11 weeks without selecting those cases destined to abort. This suggests that serum PAPP-A should continue to be investigated as a potential first-trimester screening test for Down syndrome.     

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.     

Plankton inhabiting the surface layer of the southern and southwestern lagoon of New Caledonia

In the southern and southwestern coral reef lagoon of New Caledonia and the adjacent oceanic waters, 42 neuston samples were collected from the upper surface layer (0 to 10 cm) along nine transects from the coast to the coral barrier reef and the open ocean immediately beyond the reef, in March and April 1979. There was a progressive numerical decrease in zooplankton densities from the coast to the reef and from the reef to the open sea. Generally, 80 to 95% of the surface plankton consisted of holoplankton and 5 to 20% of meroplankton. Zooplankton was very abundant in littoral bays with a marked eutrophication. In a few samples collected in very shallow waters close to coral patches, cladocerans were numerous and constituted up to 75% of the total plankton, whilst in other samples collected above greater depths, copepods made up 60 to 85% of the total plankton. In the coral reef lagoon of south and southwest New Caledonia, typically hyponeustonic copepods (pontellids) often comprised 5% of the total copepod populations.     

Age determination and growth of the bonnethead shark Sphyrna tiburo: a comparison of two populations

From July 1982 to December 1986, a study of the age and growth of the bonnethead shark Sphyrna tiburo was conducted in Tampa and Florida Bays, Florida, USA. Tetracycline-injected sharks held in captivity and, to a lesser extent, tagged, released and recaptured, were utilized for validating the annual nature of the rings (herein defined as the narrow, translucent regions) appearing on vertebral centra. The technique was validated for all age groups (0 to 6+yr) included in the study. Marginal increment analysis likewise suggested annual ring formation. The rings formed during the winter, when water temperatures were lowest. Using the vertebral ring aging-technique, von Bertalanffy growth curves for males and females from both tampa and Florida Bays were constructed. Growth of sharks born and held in captivity demonstrated that the male and female growth curves diverge after 1 yr and that mean sizes at age are statistically distinct after 2 yr. In both populations, females grew to larger sizes tha males and apparently are longer-lived. Reproductively mature females from Tampa Bay were significantly larger than those from Florida Bay.