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Genetic disorders and the fetus :diagnosis, prevention, and treatment /
紀錄類型 ： 書目-語言資料,印刷品: 單行本
其他作者 ： Milunsky, Aubrey,
出版項 ： Hoboken, NJ :Wiley-Blackwell,2021.
面頁冊數 ： xix, 1372 pages :illustrations ;26 cm.
簡介 ： "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"--
標題 ： Fetus - Diseases - Genetic aspects. -
版本 ： Eighth edition.
ISBN ： 1119676932
ISBN ： 9781119676935
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020 $z9781119676973$q(adobe pdf)
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245 00$aGenetic disorders and the fetus :$bdiagnosis, prevention, and treatment /$cedited by Aubrey Milunsky, MB BCh, DSc , FRCP, FACMG, DCH and Jeff M. Milunsky, MD, FACMG.
250 $aEighth edition.
264 #1$aHoboken, NJ :$bWiley-Blackwell,$c2021.
300 $axix, 1372 pages :$billustrations ;$c26 cm.
336 $atext$btxt$2rdacontent.
337 $aunmediated$bn$2rdamedia.
338 $avolume$bnc$2rdacarrier.
520 # $a"The time is fast approaching when virtually all the culprit genes and their mutations for 7,000 rare monogenic disorders1 will be known. Thus far causal single genes and their mutations have been determined for 5,6732 genetic disorders, enabling pre-implantation genetic testing or prenatal genetic diagnosis. These advances using chromosomal microarrays, whole exome sequencing and even whole genome sequencing together with fetal imaging, and non-invasive prenatal testing, expand the era in which all couples have the option of avoiding or preventing having children with irreversible, irremediable, crippling, or lethal monogenic disorders. Primary care physicians, and those in all medical specialties, will need to inform their patients of this key option. This imperative is already partly in current practice. Missing is the requirement of physicians to request and obtain the precise name of the genetic disorder in question or an existing DNA report on a family member, for prospective parents to benefit from available options"--$cProvided by publisher.
650 #0$aFetus$xDiseases$xGenetic aspects.$376906
650 #0$aPrenatal diagnosis.$324113
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700 1#$aMilunsky, Jeff M.,$eeditor.$364834
776 $634112$tGenetic disorders and the fetus
Genetic disorders and the fetus :diagnosis, prevention, and treatment /edited by Aubrey Milunsky, MB BCh, DSc , FRCP, FACMG, DCH and Jeff M. Milunsky, MD, FACMG. - Eighth edition. - xix, 1372 pages :illustrations ;26 cm.
"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"--
ISBN: 1119676932
LCCN: 2021058739
Nat. Bib. No.: GBC179561bnbSubjects--Topical Terms:
76906
Fetus
--Diseases
LC Class. No.: RG628 / .G46 2021
Dewey Class. No.: 618.32075
National Library of Medicine Call No.: QZ50 / G286x-8
"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"--
ISBN: 1119676932
LCCN: 2021058739
Nat. Bib. No.: GBC179561bnbSubjects--Topical Terms:
76906
Fetus
--Diseases
LC Class. No.: RG628 / .G46 2021
Dewey Class. No.: 618.32075
National Library of Medicine Call No.: QZ50 / G286x-8
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