LAUSR

Prospective parents' views on reproductive genetic carrier screening: “You know better, you do better”

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0 Published in 2025 at "Journal of Genetic Counseling"

DOI: 10.1002/jgc4.70100

Abstract: Reproductive genetic carrier screening (RGCS) allows screening for hundreds of autosomal recessive and X‐linked conditions. Multiple clinical professional bodies recommend that RGCS be offered to all prospective parents. There is some research into attitudes to… read more here.

Keywords: genetic carrier; reproductive genetic; rgcs; prospective parents ... See more keywords

Omphalocele—What should we tell the prospective parents?

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1 Published in 2021 at "Prenatal Diagnosis"

DOI: 10.1002/pd.5886

Abstract: An omphalocele is a congenital defect in the abdominal wall characterized by absent abdominal muscles, fascia, and skin. The characteristic ultrasound appearance includes a midline defect with herniation of abdominal contents into the base of… read more here.

Keywords: delivery; prospective parents; omphalocele tell; tell prospective ... See more keywords

Klinefelter Syndrome: What should we tell prospective parents?

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2 Published in 2022 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6250

Abstract: Klinefelter syndrome (KS) or 47,XXY is the most common sex chromosome aneuploidy (SCA), occurring at a prevalence of 1 in 600 male pregnancies. Historically, only 25% of individuals with KS came to medical attention, for… read more here.

Keywords: klinefelter syndrome; prospective parents; syndrome tell; tell prospective ... See more keywords

The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing Pregnancies With Fetal Structural Anomalies.

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0 Published in 2025 at "Prenatal diagnosis"

DOI: 10.1002/pd.70034

Abstract: OBJECTIVE This study evaluates an understudied perspective: the experiences of prospective parents who decline prenatal genome sequencing (pGS) for continuing pregnancies with fetal structural anomalies. METHOD We recruited a total cohort of 300 parents of… read more here.

Keywords: pregnancies fetal; prenatal genome; prospective parents; continuing pregnancies ... See more keywords

Prospective parents should be prepared for a surge in genetic data

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1 Published in 2019 at "Nature"

DOI: 10.1038/d41586-019-00331-6

Abstract: The growing capabilities of prenatal diagnostics are expanding the need for counselling.The growing capabilities of prenatal diagnostics are expanding the need for counselling. read more here.

Keywords: prepared surge; genetic data; parents prepared; prospective parents ... See more keywords