Five pregnant women with a child affected by spinal muscular atrophy (SMA) were recruited between November 2014 and March 2015. Deletion of exons 7 and/or 8 in the SMN1 gene were identified by multiplex ligation-dependent probe amplification (MLPA), the current standard diagnostic test for SMA. Parental and fetal haplotypes of the SMN1 gene were determined in each family from haplotype-based non-invasive testing of blood samples and maternal plasma, respectively. Fetal haplotype was compared with the results of MLPA of fetal DNA obtained from amniotic fluid or chorionic villi. Parental haplotypes were constructed successfully in the five families. Assisted by the information on parental haplotype, non-invasive testing of maternal plasma identified one fetus with homozygous deletion of exons 7 and 8, two fetuses with heterozygous deletion of exons 7 and 8 and two normal fetuses. These results were consistent with the diagnosis by MLPA. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

In this study, laboratory reared Cirrhinus molitorella from hatching through to the juvenile stage were used to validate daily increment deposition. Lapilli were suitable for ageing C. molitorella. The slope of the linear relationships between increment counts and age was not significantly different from 1 (n = 258, P > 0·05), indicating that growth increments are deposited daily. The first increment following the first-feeding check formed 3 days post hatch (dph). One hundred and twenty-three juveniles, ranging from 36·4 to 84·7 mm in body length (L ), were collected in the Pear River estuary from July to January in both 2014 and 2015 and used to estimate growth rate. The core in the lapillus, consisting of a single primordium, a diffuse area and the first-feeding band, was followed by 20 narrow and poorly contrasted daily increments. Thereafter, increments were wide and well-defined, and, finally became less distinct, but still homogenous after c. 53 dph. The mean increment width increased to the 29th increment and stayed relatively constant up to the 35th increment and then, gradually declined to the edge of the otolith. Wild juveniles were aged from 69 to 178 dph and hatched from the 15 February to 2 September. Growth rate was estimated from the adjusted linear regression of L on age: L = 4·37 + 0·44A (r = 0·60), where A = age. The radius of the core and the regularity and resolution of the increments showed some differences between reared and wild fish. These results are of value for the further study of early life traits and recruitment of C. molitorella.