Genetic Counseling: Preconception, Prenatal, and Perinatal

Milunsky, Aubrey; Milunsky, Jeff M.

doi:10.1002/9781118981559.ch1

Cited by 2 publications

(4 citation statements)

References 478 publications

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Section: Risk Of Birth Defects In Children Born With Artmentioning

confidence: 99%

“…The general frequency of apparent morphological abnormalities is about 2% in newborns 19 . In addition, congenital anomalies are about 3%‐4% with mental retardation and genetic disorders 19 . Regarding the association between ART pregnancy and congenital anomalies, there are both reports of a 1.37‐fold increased birth defects in ART, 20 though there is no statistically significant difference between ART and natural conception 21‐23 .…”

Section: Risk Of Birth Defects In Children Born With Artmentioning

confidence: 99%

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Genetic counseling prior to assisted reproductive technology

Katagiri

Tamaki

2020

Reprod Medicine & Biology

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Background Reproductive medicine deals with fertility and is closely related to heredity. In reproductive medicine, it is necessary to provide genetic information for the patients prior to assisted reproductive technology (ART). Japan Society for Reproductive Medicine (JSRM) requires doctors involved in reproductive medicine to have standard knowledge of reproductive genetics and knowledge of reproductive medicine, which is covered in their publication, “required knowledge of reproductive medicine.” Methods With the aim of providing straightforward explanations to patients in the clinical situation at pre‐ART counseling, we provide the following five topics, such as (a) risk of birth defects in children born with ART, (b) chromosomal abnormalities, (c) Y chromosome microdeletions (YCMs), (d) possible chromosomal abnormal pregnancy in oligospermatozoa requiring ICSI (intracytoplasmic sperm injection), and (e) epigenetic alterations. Main findings The frequency of chromosome abnormalities in infertile patients is 0.595%‐0.64%. YCMs are observed in 2%‐10% of severe oligospermic men. High incidence of spermatozoa with chromosomal abnormalities has been reported in advanced oligospermia and asthenozoospermia that require ICSI. Some epigenetic alterations were reported in the children born with ART. Conclusion Certain genetic knowledge is important for professionals involved in reproductive medicine, even if they are not genetic experts.

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Section: Risk Of Birth Defects In Children Born With Artmentioning

confidence: 99%

Section: Risk Of Birth Defects In Children Born With Artmentioning

confidence: 99%

Genetic counseling prior to assisted reproductive technology

Katagiri

Tamaki

2020

Reprod Medicine & Biology

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“…There are ≥7000 rare genetic disorders, of which more than 4331 genes with mutations that cause 6739 phenotypes have so far been identified. All are amenable to prenatal diagnosis or preimplantation genetic testing 1 …”

Section: Introductionmentioning

confidence: 99%

“…All are amenable to prenatal diagnosis or preimplantation genetic testing. 1 This case series aims to provide insight and lessons about GD/ CM/S diagnosed following adverse pregnancy outcome in the face of malpractice claims.…”

mentioning

confidence: 99%

Obstetrics, genetics, and litigation

Milunsky

2021

Acta Obstet Gynecol Scand

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Claims of medical malpractice are universal as reflected by reports from many countries. The fact that no departure from an expected standard of care occurred is often overlooked, ignored, or lost in the welter of grief. Not infrequently and often years later, in a majority of malpractice claims, there is vindication via a defense verdict of the rendered care, but not without considerable physician pain, cost, and embarrassment.Advances in human genetics have increasingly enabled detection of previously unrecognized genetic disorders that caused or contributed to adverse pregnancy outcome. Months to many years may elapse before a precise diagnosis is made, sometimes even after a settlement or verdict is reached. Genetic disorder, congenital

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Genetic Counseling: Preconception, Prenatal, and Perinatal

Cited by 2 publications

References 478 publications

Genetic counseling prior to assisted reproductive technology

Genetic counseling prior to assisted reproductive technology

Obstetrics, genetics, and litigation

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