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Genetic disorders and the fetus :dia...

Milunsky, Aubrey.

Genetic disorders and the fetus :diagnosis, prevention, and treatment /

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
正題名/作者:	Genetic disorders and the fetus :/ edited by Aubrey Milunsky, Jeff M. Milunsky.
其他題名:	diagnosis, prevention, and treatment /
其他作者:	Milunsky, Jeff M.
出版者:	Hoboken, NJ :Wiley Blackwell, : c2021.,
版本:	8th ed.
面頁冊數:	xix, 1372 p. :ill. (some col.) ; : 27 cm.;
提要註:	"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:	Fetal Diseases - genetics. -
ISBN:	9781119676935 (hard) :

Genetic disorders and the fetus :diagnosis, prevention, and treatment /
Genetic disorders and the fetus :diagnosis, prevention, and treatment /edited by Aubrey Milunsky, Jeff M. Milunsky. - 8th ed. - Hoboken, NJ :Wiley Blackwell,c2021. - xix, 1372 p. :ill. (some col.) ;27 cm.

Includes bibliographical references and index.

"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: 9781119676935 (hard) :NT9212

LCCN: 2021058739Subjects--Topical Terms:

492003
Fetal Diseases
--genetics.

LC Class. No.: RG628 / .G46 2021

Dewey Class. No.: 618.3/2075

National Library of Medicine Call No.: QZ 50 / G328 2021

Genetic disorders and the fetus :diagnosis, prevention, and treatment /
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245 0 0 $a Genetic disorders and the fetus : $b diagnosis, prevention, and treatment / $c edited by Aubrey Milunsky, Jeff M. Milunsky.
250 $a 8th ed.
260 $a Hoboken, NJ : $b Wiley Blackwell, $c c2021.
300 $a xix, 1372 p. : $b ill. (some col.) ; $c 27 cm.
504 $a Includes bibliographical references and index.
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"-- $c Provided by publisher.
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650 1 2 $2 96060 $a Genetic Diseases, Inborn. $3 248595
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650 0 $a Fetus $x Diseases $x Genetic aspects. $3 492001
650 0 $2 96060 $a Prenatal diagnosis. $3 193453
700 1 $a Milunsky, Jeff M. $3 492000
700 1 $2 97000 $a Milunsky, Aubrey. $3 234403