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Prenatal Diagnosis
Editor-in-Chief: Lyn Chitty
Impact factor:3.050
2020
Journal Citation Reports (Clarivate Analytics): 98/176 (Genetics & Heredity)31/83 (Obstetrics & Gynecology)
Online ISSN:1097-0223
Journal Overview
Prenatal Diagnosis is the Official Journal of the International Society for Prenatal Diagnosis.
On the Cover
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The cover image is based on the Review Fetal lung regeneration using stem cell-derived extracellular vesicles: A new frontier for pulmonary hypoplasia secondary to congenital diaphragmatic hernia by Rebeca Lopes Figueira et al., https://doi.org/10.1002/pd.6117.
Special topic issue on Spina Bifida: In utero therapy current status and future prospects.
The cover image is based on the Original Article Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith-Wiedemann syndrome by Nimrah Abbasi et al., https://doi.org/10.1002/pd.5930.
The cover image is based on the Research Letter New genetic and clinical evidence associated with fetal Beckwith-Wiedemann syndrome by Kuntharee Traisrisilp et al., https://doi.org/10.1002/pd.5956.
Browse Articles
Simulated confined placental mosaicism proportion (SCPMP) based on cell‐free fetal DNA fraction enrichment can reduce false‐positive results in non‐invasive prenatal testing
Junhua Zhou, Guojun Ouyang, Long Wu, Min Zhang, Rongtao Weng, Shuman Lin, Yuanli Wang, Kun Li, Xu Yang, Yingsong Wu, Zhikun Liang, Fenxia Li, Shoufang Qu, Xuexi Yang,
- 20 April 2022
free access
Preterm delivery, maternal death, and vertical transmission in a pregnant woman with COVID‐19 infection
Marzieh Zamaniyan, Aghdas Ebadi, Samaneh Aghajanpoor, Zahra Rahmani, Mohammadreza Haghshenas, Setareh Azizi,
- 1759-1761
- 17 April 2020
Promises, pitfalls and practicalities of prenatal whole exome sequencing
- 10-19
- 27 June 2017
Abstract
What's already known about this topic?
- Using established cytogenetic and molecular techniques, prenatal genetic diagnosis is only possible in around 40% of dysmorphic fetuses.
- Several small prenatal whole exome sequencing (WES) studies have successfully identified genetic diagnoses in fetuses with structural abnormalities when standard genetic testing was not diagnostic.
- Although WES improves detection of clinically important variants, it also increases detection of incidental findings and variants of uncertain significance, which makes interpretation and counselling challenging.
What does this study add?
- Our literature review identified a wide range of diagnosis rates, varying with inclusion criteria.
- Prenatal WES improves diagnostic rates and understanding of genetic disorders in the prenatal period.
- We discuss the challenges of prenatal WES including difficulties of fetal phenotyping, counselling and practical issues such as turnaround time, variant interpretation and cost.
- We highlight the ethical, social and economic factors requiring consideration before widespread implementation of prenatal WES.
free access
Gestational age and maternal weight effects on fetal cell‐free DNA in maternal plasma
- 662-666
- 2 April 2013
Abstract
What's already known about this topic?
- Previous literature indicates no significant change in average percentage of fetal cell-free DNA between 10 and 22 weeks when using Next-Generation Sequencing technology.
What does this study add?
- This is the largest sample set reporting changes in percent fetal cell-free DNA in relation to maternal weight and gestational age.
