@article {763,
	title = {Genetic diagnosis in the fetus.},
	journal = {J Perinatol},
	volume = {40},
	year = {2020},
	month = {2020 07},
	pages = {997-1006},
	abstract = {<p>Many genetic disorders are detectable in the prenatal period, and the capacity to identify them has increased remarkably as molecular genetic testing techniques continue to improve and become incorporated into clinical practice. The indications for prenatal genetic testing vary widely, including follow-up of an anomaly found by routine ultrasound or maternal aneuploidy screening, a family history of genetic disease, advanced maternal or paternal age, or evaluation of a low-risk pregnancy due to parental concern. The interpretation of genetic variants identified in the prenatal period poses unique challenges due to the lack of ability for deep phenotyping as well as the option to make critical decisions regarding pregnancy continuation and perinatal management. In this review, we address the various modalities currently available and commonly used for genetic testing, including preimplantation genetic testing of embryos, cell-free DNA testing, and diagnostic procedures such as chorionic villous sampling, amniocentesis, or percutaneous umbilical blood sampling, from which samples may be sent for a wide variety of genetic tests. We discuss the difference between these modalities for the genetic diagnosis of a fetus, their strengths and weaknesses, and strategies for their optimal use in order to direct perinatal care.</p>},
	issn = {1476-5543},
	doi = {10.1038/s41372-020-0627-z},
	author = {Wojcik, Monica H and Reimers, Rebecca and Poorvu, Tabitha and Agrawal, Pankaj B}
}
@article {671,
	title = {Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.},
	journal = {J Pediatr},
	volume = {213},
	year = {2019},
	month = {2019 Oct},
	pages = {235-240},
	abstract = {<p>We describe an infant with a phenotype typical of early onset Marfan syndrome whose genetic evaluation, including Sanger sequencing and deletion/duplication testing of FBN1 and exome sequencing, was negative. Ultimately, genome sequencing revealed a deletion missed on prior testing, demonstrating the unique utility of genome sequencing for molecular genetic diagnosis.</p>},
	issn = {1097-6833},
	doi = {10.1016/j.jpeds.2019.05.029},
	author = {Wojcik, Monica H and Thiele, Katri and Grant, Carly F and Chao, Katherine and Goodrich, Julia and O{\textquoteright}Donnell-Luria, Anne and Lacro, Ronald V and Tan, Wen-Hann and Agrawal, Pankaj B}
}
