KEY POINTS 1. Delayed cord clamping (DCC) is a very powerful yet simple, no-cost intervention practice that can transform the lives of children and mothers around the world. 2. DCC is a practice of waiting to cut the umbilical cord until sufficient time (3–5 minutes) has elapsed to permit blood flow from the placenta to the newborn while the baby is transitioning to extrauterine life. 3.…
KEY POINTS 1. Digital radiography is a frequently used imaging technique in neonatal intensive care units (NICUs), with many infants having multiple radiographs during their stays. 2. High-energy photons in ionizing radiation can damage DNA, particularly with repeated natural background exposures and diagnostic medical imaging. 3. Radiation dose is a measure of the amount of exposure of the tissues of the body to radiation; it is…
KEY POINTS 1. Transport is not a benign event for the neonate, the family, and the transport team. 2. Transport is a significant transition in care and has risk and safety concerns beyond the physical movement of the neonate. 3. Decompensation is not uncommon due to the movement, vibration, noise, and change in environment during transport and must be anticipated and addressed as needed. 4. Neonatal…
KEY POINTS 1. Preterm neonates are exposed to frequent painful and agitating stimuli during intensive care. Pain and agitation have a negative impact on long-term outcome. 2. Laboratory tests and invasive procedures should be used judiciously in neonates. 3. A systematic scoring system should be used prior to, during, and after acute painful procedures. 4. Neonatal intensive care units should develop an algorithm for the treatment…
KEY POINTS 1. Information technology (IT) can improve healthcare in its (1) efficiency in terms of economical achievement of goals, (2) effectiveness by improving the capacity to do so, and (3) efficacy with the capacity to achieve success under ideal, controlled circumstances. 2. IT can improve the safety of healthcare delivery with continuous quality improvement, sociotechnical approaches in hardware and software, and improved use of personnel.…
KEY POINTS 1. The admission of a premature or critically ill infant to a neonatal intensive care unit (NICU) is a stressful event for parents. 2. Parents in the NICU experience stress-induced emotional problems related to infant hospitalization, loss of control, and loss of contact with their infant. 3. The NICU staff can help develop strategies and interventions to help parents feel more comfortable and involved.…
KEY POINTS 1. Historically, neonatal intensive care units (NICUs) have been designed as open-bay units with multiple patient beds in a room. However, the trend has shifted toward designing units with single-patient or single-family rooms. 2. Single-family rooms have facilitated a reduction in auditory and noxious stimuli and improvement in positive stimuli to support appropriate development. 3. Parents and families have reported increased engagement in the…
In Utero Stem Cell Transplantation In utero hematopoietic stem cell transplantation (IUHCT) is a promising approach to treat congenital genetic disorders. IUHCT offers multiple therapeutic advantages over postnatal bone marrow transplantation due in part to the fetal immune system’s ability to support transplanted donor cells and develop donor-specific tolerance. The immunologic immaturity of the developing fetus allows antigens that are introduced early in development to not…
Abbreviations aCGH Array comparative genomic hybridization AF Amniotic fluid CRISPR Clustered regularly interspaced short palindromic repeat CVS Chorionic villus sampling FISH Fluorescence in situ hybridization HDR Homology directed repair ICM Inner cell mass ICSI Intracytoplasmic sperm injection mtDNA Mitochondrial DNA nDNA Nuclear DNA NGS Next-generation sequencing NHEJ Nonhomologous end joining cfDNA cell-free DNA PCR Polymerase chain reaction PGD Preimplantation genetic diagnosis PGS Preimplantation genetic screening PGT…
Introduction Testing is available for an ever-increasing number of genetic disorders. Although prenatal testing originally focused primarily on Down syndrome, it is now possible to detect a broad range of genetic conditions. Prenatal diagnostic testing is most commonly performed on fetal tissue obtained with amniocentesis or chorionic villus sampling (CVS), although umbilical cord blood obtained through percutaneous sampling is occasionally used. In the early embryo, preimplantation…
Introduction Current standards for prenatal genetic screening and testing are highly focused on detection of aneuploidies that are compatible with live birth, including trisomy 21, which affects 1:600 newborns overall and is associated with long-term survival, and the less common and more severe trisomies 18 and 13, which respectively affect 1:5000 and 1:15,000 liveborn infants. When an amniocentesis or other prenatal diagnostic procedure is performed for…
Introduction For more than half a century, classical cytogenetics was the standard of care in the diagnosis of developmental disabilities and congenital anomalies. More recently, the introduction of microarray technology into clinical medicine has allowed the identification of subchromosomal abnormalities leading to the diagnosis of an increasing number of genetic conditions in both the fetus and the child. A chromosomal microarray analysis (CMA) is a high-resolution…
Introduction Structural malformations, many of which can be diagnosed antenatally, are present in approximately 2%–3% of live births. Fetuses with structural malformations are at increased risk for an underlying genetic disorder, even in the setting of a normal karyotype. The clinical prognosis is highly variable depending on the presence of a genetic syndrome, the specific type of anomaly that is present, as well as whether the…
Introduction Soft ultrasound markers were initially described as a screening method for trisomy 21 to improve the detection rate over that based on age-related risk alone. Soft markers are not structural abnormalities; rather, they are minor ultrasound findings identified in the midtrimester that may be a variant of normal but are noteworthy because they have been associated with an increased risk of fetal aneuploidy. Commonly identified…
Overview Cell-free DNA (cfDNA) screening has been rapidly introduced into prenatal care since it became clinically available in 2011. cfDNA screening can detect more than 99% of cases of trisomy 21 and also has high sensitivity and specificity for the detection of trisomy 13 and 18 and the common sex chromosome aneuploidies. cfDNA screens for aneuploidy by sequencing cfDNA from the maternal serum, which includes fetal…
What Is the History of Serum Screening? Prenatal screening for aneuploidy has evolved dramatically over a short period of time. The purpose of prenatal screening for aneuploidy is to identify women who are at an increased risk for the most common aneuploidies. Down syndrome is the most common aneuploidy seen in live births. Chromosomal abnormalities occur in approximately 1 in 150 live births with Down syndrome…
Introduction Prenatal genetic carrier screening has evolved over a period of about 25 years. Advances in technology and health policy have ushered this evolution. With these changes, new terminology has appeared, whereas old terms and their definitions have evolved. It is helpful for the reader to understand the current core terminology around the topic of carrier screening. Definitions Condition : There has been a general trend…
Introduction In 2003, the sequencing of the human genome propelled the field of genetics in two important directions. Firstly, the concept of “genomics” emerged, which includes both the DNA sequence itself (the blueprint letters that direct genetic contributions to health, variation, and disease) and the response of the DNA to modifiers that alter gene expression (such as the environment or other genes). Additionally, genomics encompasses the…
What Are Structural Chromosome Rearrangements and How Frequently Are They Seen in the General Population? As part of cytogenetic testing, the structure of each chromosome is assessed for (1) evidence of losses or gains of material; (2) internal rearrangements within the chromosomes; (3) exchange of material between members of the same chromosome pair; or (4) exchange of material between chromosomes of different pairs. Rearrangements are described…
What Is Cytogenetics? Cytogenetics is the study of chromosomes and the clinical application of chromosome analysis for diagnostic purposes. This chapter will deal with traditional cytogenetics, which involves examination of metaphase chromosomes. The normal euploid or diploid chromosome constitution in human cells is 46. These are present in the nucleus of the cell as 23 pairs. Germ cells in the gonads with the normal diploid chromosome…