Rapid whole genome sequencing and precision neonatology.


:Traditionally, genetic testing has been too slow or perceived to be impractical to initial management of the critically ill neonate. Technological advances have led to the ability to sequence and interpret the entire genome of a neonate in as little as 26 h. As the cost and speed of testing decreases, the utility of whole genome sequencing (WGS) of neonates for acute and latent genetic illness increases. Analyzing the entire genome allows for concomitant evaluation of the currently identified 5588 single gene diseases. When applied to a select population of ill infants in a level IV neonatal intensive care unit, WGS yielded a diagnosis of a causative genetic disease in 57% of patients. These diagnoses may lead to clinical management changes ranging from transition to palliative care for uniformly lethal conditions for alteration or initiation of medical or surgical therapy to improve outcomes in others. Thus, institution of 2-day WGS at time of acute presentation opens the possibility of early implementation of precision medicine. This implementation may create opportunities for early interventional, frequently novel or off-label therapies that may alter disease trajectory in infants with what would otherwise be fatal disease. Widespread deployment of rapid WGS and precision medicine will raise ethical issues pertaining to interpretation of variants of unknown significance, discovery of incidental findings related to adult onset conditions and carrier status, and implementation of medical therapies for which little is known in terms of risks and benefits. Despite these challenges, precision neonatology has significant potential both to decrease infant mortality related to genetic diseases with onset in newborns and to facilitate parental decision making regarding transition to palliative care.


Semin Perinatol


Seminars in perinatology


Petrikin JE,Willig LK,Smith LD,Kingsmore SF




Has Abstract


2015-12-01 00:00:00














  • Modulators of inflammation in Bronchopulmonary Dysplasia.

    abstract::Over 50 years after its first description, Bronchopulmonary Dysplasia (BPD) remains a devastating pulmonary complication in preterm infants with respiratory failure and develops in 30-50% of infants less than 1000-gram birth weight. It is thought to involve ventilator- and oxygen-induced damage to an immature lung tha...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Savani RC

    更新日期:2018-11-01 00:00:00

  • Pharmacologic interventions for the prevention and treatment of retinopathy of prematurity.

    abstract::Retinopathy of Prematurity (ROP) is a preventable neovascular retinal disease with a lifetime impact on vision and ocular morbidities. Retinal vessel immaturity and oxygen therapy, influenced or modulated by several risk factors including oxidative stress, intermittent hypoxia and desaturations, inflammation, infectio...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Aranda JV,Qu J,Valencia GB,Beharry KD

    更新日期:2019-10-01 00:00:00

  • Preterm birth in the African-American community.

    abstract::Preterm births account for a substantial portion of infant mortality, the major difference in mortality between African-American and white births in the United States, and the key reason that US infant mortality exceeds that of other developed nations. Although preterm birth rates are higher in the African-American co...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Hogue CJ,Hargraves MA

    更新日期:1995-08-01 00:00:00

  • Community-based intervention packages for improving perinatal health in developing countries: a review of the evidence.

    abstract::The Lancet Neonatal Survival Series categorized neonatal health interventions into 3 service delivery modes: "Outreach," "Family-Community Care," and "Facility-based Clinical Care." Family-Community Care services generally have a greater potential impact on neonatal health than Outreach services, with similar costs. C...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Schiffman J,Darmstadt GL,Agarwal S,Baqui AH

    更新日期:2010-12-01 00:00:00

  • Body composition in pregnancy.

    abstract::Concern over the influence of pregnancy-related alterations in hydration has prompted questions regarding the accuracy of using standard methods of determining body composition. We sought to investigate whether differences exist between body composition determined at 30 weeks and 39 weeks of gestation and postpartum, ...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Jaque-Fortunato SV,Khodiguian N,Artal R,Wiswell RA

    更新日期:1996-08-01 00:00:00

  • Postpartum hemorrhage: early identification challenges.

    abstract::Postpartum hemorrhage is the leading cause of maternal morbidity and mortality worldwide. The majority of maternal deaths associated with hemorrhage could be preventable. The accurate assessment of blood loss, identification of risk factors and timely recognition of postpartum hemorrhage remain major challenges in obs...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Andrikopoulou M,D'Alton ME

    更新日期:2019-02-01 00:00:00

  • The origins of stillbirth: infectious diseases.

    abstract::This article reviews the literature on infectious diseases as a cause of stillbirth. Identifying a specific infection as a cause of stillbirth is limited by many obstacles. Nevertheless, "good faith" efforts estimate that approximately 9% to 15% of stillbirths are caused by infections. Infection may be especially impo...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Gibbs RS

    更新日期:2002-02-01 00:00:00

  • Cognitive and educational deficits in children born extremely preterm.

    abstract::A large body of research indicates that children born very preterm are at increased risk for neurobehavioral impairments; however, research examining outcome for extremely preterm (EP) children is limited. This chapter will review the literature focusing on early development delay, general intellectual functioning, sp...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Anderson PJ,Doyle LW

    更新日期:2008-02-01 00:00:00

  • Strategies to reduce disparities in maternal morbidity and mortality: The role of obesity and metabolic disease.

    abstract::Maternal obesity, excessive gestational weight gain, and preexisting diabetes are known risk factors for increased maternal and neonatal morbidity. These conditions are more prevalent in certain racial and ethnic minorities. Identification and acknowledgement of racial and ethnic inequalities related to maternal metab...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Teefey CP,Durnwald CP

    更新日期:2017-08-01 00:00:00

  • Postnatal weight gain and retinopathy of prematurity.

    abstract::Infants meeting retinopathy of prematurity (ROP) screening guidelines based on birth weight and gestational age undergo serial examinations by ophthalmologists for detection and treatment. However, less than 10% require treatment, and less than half develop ROP. Slow postnatal weight gain is highly predictive of ROP, ...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Lin L,Binenbaum G

    更新日期:2019-10-01 00:00:00

  • Ontogeny of autonomic regulation in late preterm infants born at 34-37 weeks postmenstrual age.

    abstract::Late preterm infants (34-37 weeks postmenstrual age at birth) are intermediate between less mature preterm infants and infants born at 38 weeks or more in regard to autonomic brain stem maturation. Ventilatory responses to CO(2) in preterm infants born at 33 to 36 week are significantly higher than in infants born at ...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Hunt CE

    更新日期:2006-04-01 00:00:00

  • Dilemmas initiating enteral feedings in high risk infants: how can they be resolved?

    abstract::In initiating enteral feedings for high-risk infants, clinicians struggle with three fundamental questions: When should enteral feedings be initiated? Should a period of trophic (minimal) feeding be provided? When feedings are advanced, how rapidly should the volume be increased? We present the findings of our systema...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Tyson JE,Kennedy KA,Lucke JF,Pedroza C

    更新日期:2007-04-01 00:00:00

  • Cardiac changes in the intrauterine growth-restricted fetus.

    abstract::Intrauterine growth restriction (IUGR), which complicates approximately 3% to 10% of all pregnancies leads to preferential hemodynamic changes in affected fetuses. Advanced ultrasound modalities allow reliable and reproducible assessment of the intrauterine fetal cardiac function. Among other methods, combined cardiac...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Bahtiyar MO,Copel JA

    更新日期:2008-06-01 00:00:00

  • The Response to a Pandemic at Columbia University Irving Medical Center's Department of Obstetrics and Gynecology.

    abstract::The rapid evolution of the COVID-19 pandemic in New York City during the spring of 2020 challenged the Department of Obstetrics and Gynecology at Columbia University Irving Medical Center to rely on its core values to respond effectively. In particular, five core values, "5 C's," were engaged: Communication; Collabora...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章


    authors: Yates HS,Goffman D,D'Alton ME

    更新日期:2020-10-01 00:00:00

  • Cold stress and hypoglycemia in the late preterm ("near-term") infant: impact on nursery of admission.

    abstract::Late preterm infants (34-37 weeks gestation) pose unique challenges to physicians and nurses involved in their care after birth. They may be cared for in different units within hospitals after birth, including Neonatal Intensive Care Units, Newborn Nurseries, or rooming in with the mother. As a result of their gestati...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章


    authors: Laptook A,Jackson GL

    更新日期:2006-02-01 00:00:00

  • Auditory impairment in infants at risk for bilirubin-induced neurologic dysfunction.

    abstract::Classical and subtypes of kernicterus associated with bilirubin toxicity can be differentiated in part with physiological auditory measures that include auditory-evoked potentials and measures of cochlear integrity. The combination of these auditory measures suggests that bilirubin exposure results in auditory system ...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Shapiro SM,Popelka GR

    更新日期:2011-06-01 00:00:00

  • Pathogenesis of bronchopulmonary dysplasia: the role of interleukin 1beta in the regulation of inflammation-mediated pulmonary retinoic acid pathways in transgenic mice.

    abstract:BACKGROUND:Pulmonary inflammation, increased production of the inflammatory cytokine interleukin-1beta (IL-1beta), and vitamin A deficiency are risk factors for the development of bronchopulmonary dysplasia (BPD) in premature infants. To determine the mechanisms by which IL-1beta influences lung development, we have ge...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章


    authors: Bry K,Lappalainen U

    更新日期:2006-06-01 00:00:00

  • Immunosuppressant therapy in pregnant organ transplant recipients.

    abstract::Transplant recipients are becoming pregnant with increasing frequency, and successful pregnancy outcomes have now been reported for women with all types of solid organ transplants. To prevent rejection of the transplanted organ, these patients are maintained on a life-long immunosuppressive regimen that must also be c...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Fuchs KM,Coustan DR

    更新日期:2007-12-01 00:00:00

  • Conjoined twins: Pre-birth management, changes to NRP, and transport.

    abstract::The management of conjoined twins is complex and requires careful preparation. Pre-birth management includes prenatal counseling, which is important due to the overall poor prognosis. In instances of trial of life, the delivery must be tailored to address the anticipated anatomy based on prenatal imaging and anticipat...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: C Sager E,Thomas A,C Sundgren N

    更新日期:2018-10-01 00:00:00

  • Prediction and prevention of spontaneous preterm birth in twin gestations.

    abstract::The incidence of twin gestation has increased significantly over the past 30 years. One of the most significant public health implications of this trend is the increased incidence of preterm birth (PTB). Efforts to improve neonatal outcomes must address the rate of PTB, particularly among multiple gestations, which co...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Brubaker SG,Gyamfi C

    更新日期:2012-06-01 00:00:00

  • Disorders of the central nervous system.

    abstract::In this article, we have reviewed the most common CNS abnormalities seen in perinatal medicine. The prognosis in ventriculomegaly is most closely related to the presence or absence of associated anomalies. The current treatment for DWM consists of shunting of either the posterior fossa cyst or lateral ventricles. Faci...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Paidas MJ,Cohen A

    更新日期:1994-08-01 00:00:00

  • Current status of newborn screening worldwide: 2015.

    abstract::Newborn screening describes various tests that can occur during the first few hours or days of a newborn's life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system c...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Therrell BL,Padilla CD,Loeber JG,Kneisser I,Saadallah A,Borrajo GJ,Adams J

    更新日期:2015-04-01 00:00:00

  • Simulation: improving patient outcomes.

    abstract::Effective training has been shown to improve perinatal care and outcome, decrease litigation claims and reduce midwifery sick leave. To be effective, training should be incentivised, in a realistic context, and delivered to inter-professional teams similar to those delivering actual care. Teamwork training is a useful...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Smith A,Siassakos D,Crofts J,Draycott T

    更新日期:2013-06-01 00:00:00

  • Antepartum care in multiple gestation.

    abstract::Multiple gestation carries a significant risk of perinatal complications and mortality. Often twin neonates are delivered small and early with a perinatal mortality rate five to seven times that of singleton neonates. Increased morbidity and mortality is due to an increased incidence of antepartum complications, monoz...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Newton ER

    更新日期:1986-01-01 00:00:00

  • Fetal hearing: characterization of the stimulus and response.

    abstract::Before sounds originating outside the abdomen of pregnant women can reach the inner ear of the fetus, they must first pass through the tissues and fluids surrounding the fetal head. Low-frequency sound energy easily penetrates to the fetal head, less than 5 dB attenuation for frequencies below 500 Hz, whereas higher f...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Gerhardt KJ,Abrams RM

    更新日期:1996-02-01 00:00:00

  • Environmental factors implicated in the causation of adverse pregnancy outcome.

    abstract::Adverse pregnancy outcome from environmental factors may include congenital anomalies, increased risk for miscarriage, preterm delivery, intrauterine growth restriction, and still birth. Apart from adverse pregnancy outcome, there may be effects on the other reproductive functions, like menstrual disorders and inferti...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Triche EW,Hossain N

    更新日期:2007-08-01 00:00:00

  • Race and ethnic disparities in fetal mortality, preterm birth, and infant mortality in the United States: an overview.

    abstract::Infant mortality, fetal mortality, and preterm birth all represent important health challenges that have shown little recent improvement. The rate of decrease in both fetal and infant mortality has slowed in recent years, with little decrease since 2000 for infant mortality, and no significant decrease from 2003 to 20...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: MacDorman MF

    更新日期:2011-08-01 00:00:00

  • Other factors/conditions associated with cerebral palsy.

    abstract::The cause for most cases of cerebral palsy is unknown. There are however, risk factors that have been associated with this chronic neuromuscular disease. The objective of this article is to review the maternal and fetal conditions (other than asphyxia and infection) strongly associated with increased rate of cerebral ...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Ramin SM,Gilstrap LC 3rd

    更新日期:2000-06-01 00:00:00

  • Measuring and communicating meaningful outcomes in neonatology: A family perspective.

    abstract::Medium- and long-term outcomes have been collected and described among survivors of neonatal intensive care units for decades, for a number of purposes: (1) quality control within units, (2) comparisons of outcomes between NICUs, (3) clinical trials (whether an intervention improves outcomes), (4) end-of-life decision...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Janvier A,Farlow B,Baardsnes J,Pearce R,Barrington KJ

    更新日期:2016-12-01 00:00:00

  • What we have learned from an antibiotic trial in fetal fibronectin positive women.

    abstract::Clinically silent upper genital tract microbial infections have been strongly associated with spontaneous preterm delivery, especially prior to 32 weeks gestational age. This condition represents a potentially preventable or reversible cause of preterm birth using safe, readily available, and inexpensive antibiotics. ...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Andrews WW,Goldenberg RL,National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network.

    更新日期:2003-06-01 00:00:00