Prenatal diagnosis of inverted duplicated 8p.

The phenotype of inverted duplicated 8p, region 8p11.2-p23, reported in children and adults, includes: severe mental retardation, minor facial anomalies, agenesis of corpus callosum, and other malformations including those of heart and kidneys. We report on the prenatal diagnosis of 2 cases of inverted duplication 8p.

Ultrasound detection of fetal aneuploidy in patients with elevated maternal serum alpha-fetoprotein.

Increasing confidence in the ability of high-resolution ultrasound to detect neural tube and ventral wall defects has enabled us to offer a revised risk estimate to the patient with an elevated maternal serum alpha-fetoprotein (MSAFP) level, such that amniocentesis may not be necessary. Recent authors have suggested that a reduced emphasis on follow-up amniocentesis fails to consider an increased risk for chromosomal anomalies in pregnancies with an elevated MSAFP, and that amniocentesis should still be performed. We reviewed our ultrasound findings from patients who underwent amniocentesis for evaluation of an elevated MSAFP and who had a karyotype prepared from the amniotic fluid sample.

Prenatal diagnosis of cystic fibrosis by chorionic villus sampling using 12 polymorphic deoxyribonucleic acid markers.

This report describes the application of a genetic prenatal diagnostic test for cystic fibrosis to a family with a cystic fibrosis-affected child. The test uses 12 deoxyribonucleic acid (DNA) markers that bracket the cystic fibrosis gene on chromosome 7, and chorionic villus tissue as a source of DNA from the fetus at risk for cystic fibrosis. The fetus was predicted by DNA analysis to be unaffected (although a carrier of one cystic fibrosis gene); this diagnosis was confirmed postnatally by the standard sweat electrolyte test.