this case report presents a coincidence of trisomy 18 and balanced robertsonian translocation (13;14). aneuploidy was suspected based on anomalies detected in ultrasound scan and confirmed with karyotype. in a 31 years-old healthy woman with a history of one miscarriage, second trimester ultrasound scan reported iugr (<3rd percentile) with normal amniotic fluid, bilateral choroid plexus cysts, ...

A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,XY,-21,+der (21),t(18;21) ((18pter leads to 18q21::21q22 leads to 2 lqter)mat.

OBJECTIVE We sought to develop a novel biochemical assay and algorithm for the prenatal evaluation of risk for fetal trisomy 21 (T21) and trisomy 18 (T18) using cell-free DNA obtained from maternal blood. STUDY DESIGN We assayed cell-free DNA from a training set and a blinded validation set of pregnant women, comprising 250 disomy, 72 T21, and 16 T18 pregnancies. We used digital analysis of s...

Purpose of review At the time of diagnosis of the trisomy 18 and trisomy 13, parents and care providers face difficult and challenging decisions regarding management. Because of the increased infant mortality and developmental outcome associated with both conditions, the conventional approach to management has been to withhold technological support. In recent years, an active dialogue on this t...

Trisomy 16 is thought to be incompatible with fetal survival. A boy with mosaic trisomy 16 who lived for 11 weeks is reported. Chromosome analysis was carried out on skin fibroblasts grown during life and confirmed on samples taken at necropsy. We believe that this is the first report of mosaic trisomy 16 that has been confirmed by cytogenetic banding.

An infant who died in the perinatal period with the unusual association of trisomy 18 and cebocephaly is described. It is suggested that this association may be more common than is generally recognised because the majority of such infants are stillborn or live only briefly and often do not have chromosome studies performed.

PURPOSE OF REVIEW At the time of diagnosis of the trisomy 18 and trisomy 13, parents and care providers face difficult and challenging decisions regarding management. Because of the increased infant mortality and developmental outcome associated with both conditions, the conventional approach to management has been to withhold technological support. In recent years, an active dialogue on this t...

A pericentric inversion (10)(p15q24) was observed in three generations of a family. One daughter of the inversion carrier was found to have the inv(10) and trisomy 18. The other offspring had a recombinant (10) chromosome.