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














  • Current approaches to the evaluation and management of the fetus and neonate with immune thrombocytopenia.

    abstract::Fetal and neonatal alloimmune thrombocytopenia is not a well-known disease, except among specialists in maternal-fetal medicine, neonatologists, and certain pediatricians (ie, hematologists). However, this is by far the most common cause of early severe thrombocytopenia in neonates and of intracranial hemorrhage in te...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Bussel JB,Sola-Visner M

    更新日期:2009-02-01 00:00:00

  • Acute renal failure in the newborn.

    abstract::Acute renal failure in the newborn is a common problem and is typically classified as prerenal, intrinsic renal disease including vascular insults, and obstructive uropathy. In the newborn, renal failure may have a prenatal onset in congenital diseases such as renal dysplasia with or without obstructive uropathy and i...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Andreoli SP

    更新日期:2004-04-01 00:00:00

  • Morbidly adherent placenta.

    abstract::Morbidly adherent placenta, which describes placenta accreta, increta, and percreta, implies an abnormal implantation of the placenta into the uterine wall. The incidence of placenta accreta has increased significantly over the past several decades, with the main risk factors include prior cesarean section and placent...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Abuhamad A

    更新日期:2013-10-01 00:00:00

  • Stimulation of human fetuses with sound and vibration.

    abstract::It is clear that external vibroacoustic stimulation with the EAL produces remarkable changes in FHR and fetal movement patterns that are related to changes in fetal behavior. The clinical significance of these studies has been addressed in small series on human fetuses by many authors. There is an obvious lack of unif...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Gagnon R

    更新日期:1989-10-01 00:00:00

  • The role of hyperoxia in the pathogenesis of experimental BPD.

    abstract::Supplemental oxygen is often used as a life-saving therapy in the treatment of preterm infants. However, its protracted use can lead to the development of bronchopulmonary dysplasia (BPD), and more recently, has been associated with adversely affecting the general health of children and adolescents who were born prete...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Buczynski BW,Maduekwe ET,O'Reilly MA

    更新日期:2013-04-01 00:00:00

  • Prostaglandin and leukotriene receptors in pulmonary, vascular, and uterine smooth muscle.

    abstract::Prostaglandins are currently used to maintain patency of the ductus arteriosus and to elicit uterine contractions. Prostaglandin synthesis inhibitors are used to promote closure of the ductus and their administration in pregnant animals has produced fetal pulmonary hypertension. Exposure of the human fetus to inhibito...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Wendelberger KJ

    更新日期:1987-01-01 00:00:00

  • Thyroid hormone regulation of perinatal cardiovascular function.

    abstract::Thyroid hormone plays an important role in regulating cardiovascular function during the transition to extrauterine physiology. Multiple mechanisms participate, ranging from transcriptional to more immediate nongenomic modes of regulation. ...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Portman MA

    更新日期:2008-12-01 00:00:00

  • Nutrition and maternal, neonatal, and child health.

    abstract::This article reviews the central role of nutrition in advancing the maternal, newborn, and child health agenda with a focus on evidence for effective interventions generated using randomized controlled trials in low- and middle-income countries (LMIC). The 1000 days spanning from conception to 2 years of life are a cr...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Christian P,Mullany LC,Hurley KM,Katz J,Black RE

    更新日期:2015-08-01 00:00:00

  • Ichthyosis in the newborn.

    abstract::The ichthyoses encompass a variety of genetic disorders marked by abnormal epidermal differentiation. The neonatal period is critical for patients with ichthyosis because of the risk for significant associated morbidity and mortality, with the majority of complications arising as a result of impaired barrier function....

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Craiglow BG

    更新日期:2013-02-01 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

  • Ultrasound in obstetric anesthesia.

    abstract::Ultrasound has permeated the practice of anesthesiology and is becoming an essential tool for the obstetric anesthesiologist in the labor and delivery suite. The most common applications include guidance for neuraxial (epidural and spinal) anesthesia and acute pain nerve blocks, as well as guidance for central and per...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章


    authors: Lee A

    更新日期:2014-10-01 00:00:00

  • Oligohydramnios: problems and treatment.

    abstract::Oligohydramnios is a severe and common complication of pregnancy. The finding of oligohydramnios can be associated with fetal anomalies, PROM, uteroplacental insufficiency (eg, growth retardation, postdatism, abruptio placenta, significant maternal illness), abnormalities of twinning, and idiopathic oligohydramnios. U...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: McCurdy CM Jr,Seeds JW

    更新日期:1993-06-01 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

  • Treatment and prophylaxis of invasive candidiasis.

    abstract::Invasive candidiasis (IC) is a leading cause of morbidity and mortality in preterm infants. Even if successfully treated, IC can cause significant neurodevelopmental impairment. Preterm infants are at increased risk for hematogenous Candida meningoencephalitis owing to increased permeability of the blood-brain barrier...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Tripathi N,Watt K,Benjamin DK Jr

    更新日期:2012-12-01 00:00:00

  • Managing congenital heart disease in the obstetric patient.

    abstract:OBJECTIVE:Cardiovascular disease is the major cause of pregnancy-related maternal mortality in the United States, and congenital heart disease (CHD) is the most common form of structural heart disease affecting women of childbearing age. Most females born with CHD will reach childbearing age and consider pregnancy. Adu...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Connolly HM

    更新日期:2018-02-01 00:00:00

  • Neurodevelopmental outcome of extremely low-birth-weight infants randomly assigned to restrictive or liberal hemoglobin thresholds for blood transfusion.

    abstract::Surviving extremely low-birth-weight infants are at risk of severe neurodevelopmental disability. Transfusion with packed red cells is almost universal in the care of these infants, but the hemoglobin threshold at which these transfusions should be given is unclear. Different clinical trials of restrictive (low hemogl...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Whyte RK

    更新日期:2012-08-01 00:00:00

  • Clinical course of premature rupture of the membranes.

    abstract::Premature rupture of the membranes (PROM), defined as rupture of the membranes before the onset of labor, is a common obstetric event occurring in 10% of pregnancies. Most of the time this occurs at or beyond 37 weeks' gestation with only 10% of PROM occurring at less than 37 weeks' gestation. The natural course of PR...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Alexander JM,Cox SM

    更新日期:1996-10-01 00:00:00

  • The newborn with ambiguous genitalia.

    abstract::The unexpectedness of genital ambiguity in an infant creates an urgent and stressful situation. A logical approach, using a team of specialists together with nursery staff and physicians, allows each member to contribute expertise and unnecessary overlap of investigations. The psychological needs of the parents should...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: McGillivray BC

    更新日期:1992-12-01 00:00:00

  • Conducting research during the COVID-19 pandemic.

    abstract::The highly contagious severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has affected every aspect of medical practice and has all but ceased clinical, translational and basic science research. Pregnant women appear to be similarly affected by the virus as non-pregnant adults. As obstetricians, not only do w...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Mourad M,Bousleiman S,Wapner R,Gyamfi-Bannerman C

    更新日期:2020-11-01 00:00:00

  • Ethical dilemmas in medical innovation and research: distinguishing experimentation from practice.

    abstract::The words research and experimentation continue to have the power to evoke fear in potential subjects. But much of standard practice, particularly in critical care settings, involves interventions of unknown efficacy and safety. Innovation also abounds in practice settings, typically unchecked by prospective or retros...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Fost N

    更新日期:1998-06-01 00:00:00

  • Simulation for neonatal extracorporeal membrane oxygenation teams.

    abstract::Extracorporeal membrane oxygenation (ECMO) is a highly technical and complex method of life support. Patient and circuit emergencies on ECMO are rare, but in these cases, prompt and correct actions to address the crisis are needed to prevent morbidity and mortality. ECMO simulation programs have gained popularity in r...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Johnston L,Oldenburg G

    更新日期:2016-11-01 00:00:00

  • Before the horse is out of the barn: fetal surgery for hydrops.

    abstract::Hydrops fetalis, a condition characterized by abnormal accumulation of fluid and edema in the fetus, is the final common pathway in a number of pathological conditions. The diagnosis of hydrops is based on ultrasonographic findings of generalized edema along with a serous effusion (ascites, pleural effusion, or perica...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Bullard KM,Harrison MR

    更新日期:1995-12-01 00:00:00

  • Population trends in sudden infant death syndrome.

    abstract::This review documents and assesses recent trends in sudden infant death syndrome. We review medical literature, Internet resources, and national governmental data. A striking reduction in SIDS incidence of more than 50% has been observed in various countries after interventions, particularly during the early 1990s, to...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Ponsonby AL,Dwyer T,Cochrane J

    更新日期:2002-08-01 00:00:00

  • A new tool for prenatal diagnosis: ultrafast fetal MRI.

    abstract::The development of ultrafast magnetic resonance imaging scanners and sequences provides a new tool for the diagnosis of fetal anomalies. Magnetic resonance imaging is a valuable adjunct to prenatal ultrasound especially for the evaluation of suspected fetal brain anomalies, chest masses, abdominal masses, and renal di...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Hubbard AM,Harty MP,States LJ

    更新日期:1999-12-01 00:00:00

  • Suppression of lactation.

    abstract::Medical and psychological indications for lactation suppression are discussed, and methods for lactation suppression are evaluated. Medical indications for lactation suppression include 1) maternal anatomical abnormalities, such as inadequate secretory tissue and inverted nipples; 2) maternal breast infections and tu...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Harrison RG

    更新日期:1979-07-01 00:00:00

  • Infections in VLBW infants: studies from the NICHD Neonatal Research Network.

    abstract::Infection is a serious complication among very low birth weight (VLBW) preterm infants hospitalized in neonatal intensive care units. This article reviews studies from the National Institute of Child Health and Human Development (NICHD) Neonatal Research Network including infection data from observational studies and ...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Stoll BJ,Hansen N

    更新日期:2003-08-01 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

  • The medical and legal aspects of maternal mortality.

    abstract::Sudden unexpected changes in the life of a family create many different emotions in various family members. The death of a young woman during or after her pregnancy is especially difficult because of the strain it places on family dynamics. One of the consequences is that there is, commonly, a newborn, and perhaps oth...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章


    authors: Elliott JP

    更新日期:2012-02-01 00:00:00

  • Overview of the mechanisms of induction of labor.

    abstract::Here we provide a brief overview of the natural process of labor and its biochemical, hormonal, and mechanical characteristics that can be exploited in methods employed for induction of labor. ...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: Irani RA,Foster S

    更新日期:2015-10-01 00:00:00

  • Cranial ultrasonography in neonates: role and limitations.

    abstract::In experienced hands, cranial ultrasonography (cUS) is an excellent tool to detect the most frequently occurring brain abnormalities in preterm and full-term neonates, to study the evolution of lesions, and to follow brain maturation. It enables screening of the brain and serial imaging in high-risk neonates. However,...

    journal_title:Seminars in perinatology

    pub_type: 杂志文章,评审


    authors: van Wezel-Meijler G,Steggerda SJ,Leijser LM

    更新日期:2010-02-01 00:00:00