First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers.
We report a personal experience of first-trimester prenatal diagnosis of Ellis-van Creveld (EvC) syndrome based on typing of microsatellite markers flanking the EvC locus. An heterozygous fetus was diagnosed with a diagnostic accuracy of 96 per cent. The DNA prediction was confirmed by ultrasound at 22 weeks of gestation and by clinical evaluation at birth.
Torrente
I
I
Dipartimento di Sanità Pubblica e Biologia Cellulare, Università di Roma Tor Vergata, Italy.
Mangino
M
M
De Luca
A
A
Mingarelli
R
R
Gennarelli
M
M
Giannotti
A
A
Novelli
G
G
Dallapiccola
B
B
D000328:Adult; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005865:Gestational Age; D006579:Heterozygote; D006801:Humans; D018895:Microsatellite Repeats; D010375:Pedigree; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
D005819:Genetic Markers