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Prenatal Diagnosis: Screening and Diagnostic Tools

Obstetrics and gynecology clinics of North America, 2017-06, Vol.44 (2), p.245

2017

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International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis

Prenatal diagnosis, 2022-05, Vol.42 (6), p.796-803

2022

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The use of chromosomal microarray for prenatal diagnosis

American journal of obstetrics and gynecology, 2016-10, Vol.215 (4), p.B2-B9

2016

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.27-32

2012

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Pregnant women's informational needs prior to decisions about prenatal diagnosis for chromosomal anomalies-A Q methodological study

Prenatal diagnosis, 2024-04, Vol.44 (4), p.480-491

2024

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Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis

Prenatal diagnosis, 2022-05, Vol.42 (6), p.662-685

2022

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Non‐invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience

BJOG : an international journal of obstetrics and gynaecology, 2022-10, Vol.129 (11), p.1879-1886

2022

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Single gene non-invasive prenatal testing when the father is not available for testing; concerns regarding Wynn et al., Prenatal Diagnosis 2023. 43:1344-54

Prenatal diagnosis, 2024-04, Vol.44 (4), p.527-528

2024

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New ventures for Prenatal Diagnosis

Prenatal diagnosis, 2023-12, Vol.43 (13), p.1573-1573

Chitty, Lyn S.

2023

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Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

Prenatal diagnosis, 2015-10, Vol.35 (10), p.1010-1017

2015

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Prenatal Diagnosis of Esophageal Atresia – Performance and Consequences

Journal of pediatric surgery, 2023-11, Vol.58 (11), p.2075-2080

2023

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Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up

Prenatal diagnosis, 2024-01, Vol.44 (1), p.35-48

2024

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Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome‐wide sequencing for fetal diagnosis

Prenatal diagnosis, 2018-01, Vol.38 (1), p.6-9

Henson, Melissa

2018

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Prenatal diagnosis of single‐gene disorders: the earlier, the better?

Ultrasound in obstetrics & gynecology, 2020-11, Vol.56 (5), p.788-790

2020

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Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

Prenatal diagnosis, 2023-06, Vol.43 (7), p.814-828

2023

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Telegenetics to provide comprehensive prenatal diagnosis

Prenatal diagnosis, 2024-04, Vol.44 (4), p.492-498

2024

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Influence of prenatal diagnosis of abnormally invasive placenta on maternal outcome: systematic review and meta‐analysis

Ultrasound in obstetrics & gynecology, 2018-09, Vol.52 (3), p.304-309

2018

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Improving prenatal diagnosis through standards and aggregation

Prenatal diagnosis, 2024-04, Vol.44 (4), p.454-464

2024

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Noninvasive prenatal diagnosis for pregnancies at risk for β‐thalassaemia: a retrospective study

BJOG : an international journal of obstetrics and gynaecology, 2021-01, Vol.128 (2), p.448-457

2021

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Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

Prenatal diagnosis, 2015-08, Vol.35 (8), p.725-734

2015

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Delivering an accredited non‐invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice

Prenatal diagnosis, 2018-01, Vol.38 (1), p.44-51

2018

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Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders

Clinical science (1979), 2022-11, Vol.136 (22), p.1615

2022

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Prenatal diagnosis of vascular anomalies

Prenatal diagnosis, 2023-03, Vol.43 (3), p.318-327

2023

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Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management

Prenatal diagnosis, 2023-12, Vol.43 (13), p.1650-1661

2023

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Prenatal Diagnosis: Screening and Diagnostic Tools

International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis

The use of chromosomal microarray for prenatal diagnosis

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

Pregnant women's informational needs prior to decisions about prenatal diagnosis for chromosomal anomalies-A Q methodological study

Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis

Non‐invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience

Single gene non-invasive prenatal testing when the father is not available for testing; concerns regarding Wynn et al., Prenatal Diagnosis 2023. 43:1344-54

New ventures for Prenatal Diagnosis

Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

Prenatal Diagnosis of Esophageal Atresia – Performance and Consequences

Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up

Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome‐wide sequencing for fetal diagnosis

Prenatal diagnosis of single‐gene disorders: the earlier, the better?

Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

Telegenetics to provide comprehensive prenatal diagnosis

Influence of prenatal diagnosis of abnormally invasive placenta on maternal outcome: systematic review and meta‐analysis

Improving prenatal diagnosis through standards and aggregation

Noninvasive prenatal diagnosis for pregnancies at risk for β‐thalassaemia: a retrospective study

Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

Delivering an accredited non‐invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice

Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders

Prenatal diagnosis of vascular anomalies

Fetal macrocephaly: Pathophysiology, prenatal diagnosis and management

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