GENETIC TESTING - PART I 

Minerva Biotecnologica 2000 March;12(1):5-14

Copyright © 2000 EDIZIONI MINERVA MEDICA

language: English

Genetic testing and prenatal diagnosis

Dallapiccola B., Novelli G.

Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma “Tor Vergata”, Roma, Istituto CSS-Mendel, Roma

The abil­ity to ­detect pre­na­tal­ly all ­major chro­mo­so­mal aber­ra­tions and ­many dis­ease-­genes has ­been a tre­men­dous aid to genet­ic coun­sel­ling. Knowledge of the ­fetal gen­o­type is use­ful pri­mar­i­ly in mak­ing repro­duc­tive deci­sions. If a dis­or­der is diag­nosed ear­ly in preg­nan­cy, the ­couple has the oppor­tu­nity of abort­ing the ­fetus and begin­ning ­again. Fortunately, in ­about 97% of pre­na­tal anal­y­ses, the ­fetus is ­found not to ­have the dis­or­der in ques­tion. This find­ings ­relieves anx­ie­ty for the par­ents, who can ­then antic­i­pate a new­born no ­more at ­risk for abnor­mal­ity ­than a ran­dom ­birth. Many cou­ples at sub­stan­tial ­risk of hav­ing a ­child ­with a seri­ous ­defect ­would ­refrain ­from fur­ther preg­nan­cies ­unless ­assured ­that the ­risk ­could be ­reduced. Thus, ­because of the avail­abil­ity of ­fetal diag­no­sis, ­life is giv­en to chil­dren who ­would oth­er­wise nev­er be con­ceived.