LEADER 02333nam 2200445 450 001 9910830414003321 005 20230630001950.0 010 $a1-119-67695-9 010 $a1-119-67698-3 010 $a1-119-67697-5 035 $a(CKB)4100000011868565 035 $a(MiAaPQ)EBC6532370 035 $a(Au-PeEL)EBL6532370 035 $a(OCoLC)1230250234 035 $a(EXLCZ)994100000011868565 100 $a20211019d2021 uy 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aGenetic disorders and the fetus $ediagnosis, prevention, and treatment /$fedited by Aubrey Milunsky, Jeff M Milunsky 205 $aEighth edition. 210 1$aHoboken, New Jersey :$cWiley Blackwell,$d[2021] 210 4$dİ2021 215 $a1 online resource (1,395 pages) 311 $a1-119-67693-2 330 $a"The time is fast approaching when virtually all the culprit genes and their mutations for 7,000 rare monogenic disorders1 will be known. Thus far causal single genes and their mutations have been determined for 5,6732 genetic disorders, enabling pre-implantation genetic testing or prenatal genetic diagnosis. These advances using chromosomal microarrays, whole exome sequencing and even whole genome sequencing together with fetal imaging, and non-invasive prenatal testing, expand the era in which all couples have the option of avoiding or preventing having children with irreversible, irremediable, crippling, or lethal monogenic disorders. Primary care physicians, and those in all medical specialties, will need to inform their patients of this key option. This imperative is already partly in current practice. Missing is the requirement of physicians to request and obtain the precise name of the genetic disorder in question or an existing DNA report on a family member, for prospective parents to benefit from available options"--$cProvided by publisher. 606 $aPrenatal diagnosis 615 0$aPrenatal diagnosis. 676 $a618.32075 702 $aMilunsky$b Aubrey 702 $aMilunsky$b Jeff M. 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910830414003321 996 $aGenetic disorders and the fetus$93916346 997 $aUNINA