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Maternal Newborn Nursing

25.2 Congenital, Genetic, and Acquired Complications

Maternal Newborn Nursing25.2 Congenital, Genetic, and Acquired Complications

Learning Objectives

By the end of this section, you will be able to:

  • Identify and define common congenital and genetic disorders found in the newborn
  • Describe the nursing management of newborns with common congenital and genetic disorders
  • Describe characteristics, common medical conditions associated with, and therapeutic management of genetic diseases, including both phenotype and environmental modification
  • Discuss the nurse’s role in educating, caring for, and supporting families and newborns with congenital and genetic disorders or conditions

A congenital disorder is a disorder or abnormality present at birth, while a genetic disorder is caused by an abnormality in the genetic material, chromosomes, or the genes within the chromosomes (Udayangani, 2022).

Support of the family during the introduction of the newborn with a congenital or genetic disorder is paramount. These disorders can be known or unknown at the time of birth and can make attachment and bonding difficult. The role of the nurse is to support the birth parent and newborn during this time of transition while also facilitating bonding and attachment.

Cranial and Craniofacial Deformities

A cranial deformity is a congenital or genetic disorder that affects the development of the cranial anatomy resulting in abnormal form or function. The disorders that fall under this category can be noted in utero or at birth. They are usually diagnosed very early in life because of visually notable facial features and potentially measurable size differences.


One cranial deformity is microcephaly, which is a head circumference at least two standard deviations below the average findings for someone of the same age and gender (The National Center on Birth Defects and Developmental Disabilities [NCBDDD], n.d.). Microcephaly can be a finding and diagnosis, or it can be a finding related to an underlying disorder or disease pattern. Microcephaly can be connected to comorbid disorders including seizures, developmental delay, intellectual disabilities, hearing or vision loss, movement and/or balance problems, and feeding difficulties, particularly swallowing (Harris, 2015).


Craniosynostosis is defined as two or more prematurely fused skull bones. There is a range of presentations, but the most common type presents with the closure of one suture in the skull earlier than expected. The disease can affect multiple skull bones or even bones outside the cranium.

Craniosynostosis can be a cosmetic deformity, but the more concerning result is that it can potentially limit brain growth and development. Growth of the brain relies on skull growth to allow for internal expansion. Surgical correction is required to allow appropriate brain growth if sutures are not present for movement during growth. The potential neurocognitive impact of craniosynostosis is just now being investigated by the research community (Proctor & Meara, 2019).

Cleft Lip and Cleft Palate

A cleft is a congenital abnormal space or gap in the upper lip, alveolus, or palate. A cleft lip or cleft palate can occur alone or can be found together as a cleft lip and palate. A cleft lip is a failure of the tissues to come together at the frontonasal and maxillary processes. A complete cleft lip has a gap that extends through the nasal floor; an incomplete cleft does not. A cleft palate occurs when the palatal shelves that make up the maxillary processes do not come together. The way these defects present is determined by when in embryologic life the interference in fusion occurs (Vyas et al., 2020) (Figure 25.5).

Part (a) shows an illustration of an infant with a unilateral cleft lip; part (b) depicts an infant with a unilateral cleft palate, visibly affecting the mouth and nasal area.
Figure 25.5 Cleft Lip and Cleft Palate (a) This is an infant with an unrepaired cleft lip. (b) This is an infant with an unrepaired cleft palate. (credit a: Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Public Domain; credit b: Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Public Domain)


Cleft lip and cleft palate can occur as lone congenital defects or with other congenital defects, specifically with congenital heart disease. Both are associated with more than 300 diagnosable syndromes (Vyas et al., 2020).

Cleft lip and cleft palate occur in approximately 1 in 600 to 800 live births (1.42 in 1,000), while the less common cleft palate alone occurs in around 1 in 2,000 births. These defects are distributed as follows: 15 percent are cleft lip alone, 45 percent are cleft lip and palate, and 40 percent are cleft palate alone (Shankar, 2011).


It is believed that cleft lip and cleft palate occur as result of a combination of genetic and environmental factors. These conditions can lead to difficulty in feeding by bottle or breast, which increases the risk of developmental delay and slowed growth. Children with these defects can experience difficulties in speech development, deafness, malocclusions, notable facial deformation, and potentially severe psychologic issues (Vyas et al., 2020).


Diagnosis of cleft lip, cleft palate, or cleft lip and palate usually occurs by ultrasound before birth. Early detection allows for early education for the parents and early intervention to alleviate any difficulties with feeding. Parents who do not have access to prenatal care learn about their child’s cleft only after birth.

Cultural Context

Cleft Lip and Palate: The View from Those Practicing Hinduism

Beliefs and attitudes of people play a major role in how they perceive and respond to any physical deformity. Cultural views and opinions based on those cultural beliefs have a role in how the family views their child with the physical deformity. Families who practice Hinduism, a dominant religion of India that is characterized by a belief in reincarnation, may believe that cleft lip and/or cleft palate are the result of sins from a past life visiting the newborn in this life or some other supernatural cause (Weatherly-White et al., 2005).

Nursing Management

It is very important to treat clefts at the right time or right age to get the most effective repair with as little impairment as possible (Vyas et al., 2020). The long-term management of a cleft lip and cleft palate requires a multidisciplinary team: plastic surgery, otolaryngology, orthodontics, speech pathology, pediatrics, nursing, audiology, social work, and psychology. Surgical correction and successful reconstruction typically require multiple stages or phases of surgery (Vyas et al., 2020).

Nursing management of an infant with cleft lip and palate begins with assessment of the family as a whole. The nurse explores the family’s understanding and acceptance of its new member and asks how feeding is being done. The nurse determines by physical assessment during feeding if effective nutritional intake is occurring and evaluates growth over time. The goals of caring for this newborn include maintaining hydration and nutrition and reducing the parents’ potential anxiety and guilt that may occur related to the newborn’s physical defects.

Educating the caregiver on how to feed a newborn with cleft palate is a vital role of the nurse. Direct breast-feeding can be successful, as the breast tissue itself can fill the gap in the lip and/or palate. When using a nipple to feed a newborn with cleft lip and palate, positioning in a unilateral presentation can improve intake. The person feeding the infant should aim the nipple at the unaffected side of the palate. An extra-long nipple, such as that used on the Haberman feeder (Figure 25.6), Lamb’s nipples, and/or special cleft palate nipples can be used to close the opening in the palate. An Asepto syringe with the addition of rubber tubing on the tip, also called a Breck feeder, can be successful for feedings (National Health Service [NHS], 2023).

Illustration of a bottle and nipple. The nipple is elongated.
Figure 25.6 The Haberman Feeder The longer nipple of the Haberman feeder can be helpful when bottle-feeding an infant with a cleft lip and palate. The Haberman nipple allows the person doing the feeding to control the flow of formula/breast milk into the infant’s mouth as they are learning to feed. This avoids choking if too much liquid is expressed at any one time. (attribution: Copyright Rice University, OpenStax, under CC BY 4.0 license)

Fetal Alcohol Spectrum Disorders

Fetal alcohol spectrum disorders (FASD) are the potential outcome of prenatal alcohol exposure (PAE) combined with genetic and environmental factors (Kaminen-Ahola, 2020). Effects of the disorder can range from growth deficits to physical abnormalities, neurocognitive and behavioral deficits, and an increased vulnerability to mental health problems later in life.

The five major diagnoses of FASD are based on the particular symptoms displayed:

  • Alcohol-related neurodevelopmental disorder—defined as a disorder with intellectual disabilities or behavioral and/or learning problems caused by maternal alcohol consumption during pregnancy
  • Alcohol-related birth defects—a range of congenital and genetic birth defects caused by maternal alcohol consumption during pregnancy
  • Fetal alcohol syndrome—fetal alcohol spectrum disorder at its most severe presentation, including both neurodevelopmental disorders and congenital and genetic birth defects caused by maternal alcohol consumption during pregnancy
  • Partial fetal alcohol syndrome—some, but not all, the hallmark signs and symptoms of fetal alcohol syndrome caused by maternal alcohol consumption during pregnancy; ultimately the criteria for the diagnosis of FAS are not met
  • Neurobehavioral disorder associated with prenatal alcohol exposure—behavioral symptoms of a disorder that include neurocognitive impairments such as problems with mental health, long- and short-term memory, impulse control, communication, and daily living activities; caused by maternal alcohol consumption during pregnancy (Mayo Foundation for Medical Education and Research [MFMER], 2018)

Fetal alcohol syndrome is the most severe of these disorders. This diagnosis includes characteristic facial dysmorphisms and central nervous system deficits.


Many factors affect the developmental and health status of the infant with FASD: genetic susceptibility, the pregnant person’s drinking pattern, the timing of drinking in relationship to what fetal development takes place at that time, and the amount of alcohol consumed, along with the pregnant person’s metabolism and tolerance of alcohol during the pregnancy. FASD prevalence ranges from 3 percent to 5 percent in Europe and North America to more than 10 percent in South Africa, although this disorder is underdiagnosed (Kaminen-Ahola, 2020).


Recent research findings suggest that PAE may affect the regulation of gene expression. Epigenetic regulation and the variation induced in utero from the teratogen alcohol could be the underlying pathophysiology of FASD. Drinking alcohol while pregnant allows alcohol to enter the bloodstream and reach the fetus via the placenta. The developing fetus experiences higher concentrations of alcohol than the pregnant person because the fetus metabolizes alcohol more slowly than an adult. Alcohol can then affect all developing tissues and interfere with oxygen delivery and nutritional intake. The more alcohol that is ingested, the greater the risk to the fetus as it develops (MFMER, 1998–2023). The major signs and symptoms of FAS include the following:

  • Three specific facial abnormalities:
    • smooth philtrum (the area between nose and upper lip)
    • thin upper lip
    • small palpebral fissures (the horizontal eye openings)
  • Growth deficit (lower than average height, weight, or both)
  • Central nervous system (CNS) abnormalities (structural, neurologic, functional, or a combination of these) (American Academy of Pediatrics [AAP], 2018)


Diagnosing FAS requires a multidisciplinary team including the primary pediatrician, a geneticist, and a neuropsychologist. Chromosomal testing can be a piece of diagnostics, but only 9 percent to 14 percent of children diagnosed with FASD will have chromosomal deletions or duplications directly causative of the child’s features. Currently, research is focused on finding biomarkers that could be used for simple blood tests to diagnose the disorder (Kaminen-Ahola, 2020).

Nursing Management

No specific treatment for FASD exists, but the earlier it is diagnosed, the sooner supportive services can be added to the child’s life. The physical and mental deficiencies of FASD will be ongoing, requiring a lifetime of coordinated medical care and support. The nurse assists with contacting social services if the birthing institution allows or consulting child protective services (CPS) with any newborn diagnosed with FAS. In many states in the United States, children born with FASD are automatically immediately eligible for intervention services.

The goal of treatment is to reduce the effects of the syndrome and prevent as many disabilities as possible. Early intervention services—speech therapy, physical therapy, and occupational therapy—can reduce FAS effects and prevent some long-term disabilities. Developmental services include consultation with an early interventionist and help with basic gross motor and social skills. Later childhood care can include a psychologist along with supportive services in school to help with learning and behavioral issues. Every child presenting with FASD has their own personalized needs. This individualized care may include optometry for vision care or a cardiologist for cardiovascular health, for example, though other children with FASD may not need these specific medical specialists.

Nursing management includes assessment for overstimulation because infants with FAS can become agitated easily and have difficulty self-soothing. Maintaining an environment that is calm and stable by clustering care decreases physical stimulation. The family and/or pregnant person will need to be assessed for alcohol and other substance-use problems. The nurse educates the birth parent that no amount of alcohol during pregnancy is safe for a fetus. If the infant has siblings, they also may need to be evaluated for the disorder. The nurse provides education to the birth parent along with counseling that includes alcohol cessation programs and support groups. Because FASD is a lifelong disorder that affects not only the infant but also the whole family, counseling can benefit parents and the family in dealing with their child's physical and behavioral problems.

Genetic Disorders

Genetic disorders are an inherited medical condition caused by a change in the DNA. The effects of the DNA abnormality can range from encompassing multisystemic disease states to benign disease states that rarely cause significant life changes. The most significant genetic disorders are those that cause life-altering medical conditions that affect the patient from birth throughout their life.

Trisomy 21

Down syndrome (DS), or Trisomy 21, is the most commonly occurring chromosomal anomaly. It is primarily caused by trisomy of chromosome 21, which results in the multisystem signs and symptoms of the syndrome. Langdon Down first described the condition in 1866 in a paper presented at a lecture conference (Down, 1887). Many care providers had come to the conclusion that there was a genetic basis long before testing, developed in 1959, could confirm that Down syndrome was caused by a chromosomal anomaly (Antonarakis et al., 2020).


Down syndrome (DS) is the most common genetic disorder of intellectual disability. The prevalence is increasing as the global population grows, while more children with DS survive childhood. Trisomy 21 occurs in about 1 in 700 to 800 births (6.7 in 10,000) or 1 in 779 infants born in the United States (Antonarakis et al., 2020). Elective termination or spontaneous abortion of fetuses with DS results in a reduction of the final number of live infants born with the finding.


Molecular pathophysiology research currently suggests that DS is a disorder of gene expression dysregulation. However, further research is needed. The biological mechanism that results in each type of phenotypic presentation remains unknown. Different types of meiotic and mitotic errors can all lead to aneuploidy and, ultimately, trisomies.

Advanced maternal age (AMA) at conception is a major risk factor for DS and is a risk factor for all autosomal trisomies. However, most newborns with trisomy 21 are born to those who are not AMA, due to the number of live births within that age group. Environmental factors are also influential in this disorder, among them tobacco use, lack of folic acid supplementation, and oral contraceptive use (Antonarakis et al., 2020).


Laboratory-based prenatal screening for DS is offered as routine antenatal care in developed countries. The serum sample for screening measures maternal levels of beta human chorionic gonadotropin and other gestationally age-dependent levels. First trimester ultrasound is used to measure fetal nuchal translucency. No one specific fetal anatomic finding is diagnostic of DS; rather, there are so-called soft signs associated with the syndrome. Best practice guidelines recommend that if any of these early testing methods is positive, the pregnant person should be offered posttest counseling and a diagnostic test: amniocentesis or chorionic villus sampling, followed by a genetic analysis (Antonarakis et al., 2020).

Nursing Management

Every person with DS has their own strengths and challenges related to their health that will vary throughout their life. The level of medical care required from birth can be high or low, depending on the comorbidities. This same presentation is paralleled as children with DS age. Some may need multiple layers of social care and support while others may live independently. Some health problems have a higher incidence in those with DS: congenital heart disease, obstructive sleep apnea, thyroid disease, dementia, epilepsy, gastrointestinal disease, hearing and vision problems, intellectual and developmental disabilities, mental illness, immunologic dysfunction, hematologic disorders, and musculoskeletal issues (Alexander et al., 2015). The American Academy of Pediatrics (AAP) has screening guidelines to address these potential areas of care (Bull et al., 2022), including a recommendation to have an evaluation by a cardiologist for a cardiac baseline early in the infant period.

Trisomy 18 and Trisomy 13 Syndromes

Trisomy 18, or Edwards syndrome, and Trisomy 13 are genetically and phenotypically distinct diseases. However, they have very similar characteristics and survival rates, and they rely on much the same treatment and management (Carey et al., 2021). Edwards syndrome is named after Professor John Edwards, who originally described the syndrome in a 1960 issue of The Lancet, the same edition where Patau described the syndrome of trisomy 13 (Edwards et al., 1960; Patau et al., 1960).


The incidence of trisomy 18 ranges from 1 in 3,600 to 1 in 8,500 live births (Carey et al., 2021). The incidence of trisomy 13 is estimated to range from 1 in 5,000 to 1 in 12,000 total births (Carey et al., 2021). These pregnancies many times end in spontaneous miscarriage without diagnosis (Carey et al., 2021).

Etiology and Pathophysiology

Trisomy 18 includes a recognizable constellation of major and minor findings, most notably increased neonatal and infant mortality and significant developmental and motor disabilities for children who survive past infancy. Most infants with trisomy 18 have a full three copies of chromosome 18 in all their cells. A small percentage, 3 percent to 6 percent of infants with this disorder, have mosaicism, or partial presentation, of the chromosomal trisomy. The addition of an extra chromosome in trisomy 18 was found to be maternal nondisjunction in 95 percent of the studied cases. Nondisjunction occurs when chromosomes fail to segregate during meiosis; when this happens, gametes with an abnormal number of chromosomes are produced, leading to pregnancy loss or birth defects. As in all trisomies, the occurrence of nondisjunctional trisomy 18 increases with advanced maternal age (Carey et al., 2021).

Trisomy 13 syndrome presents as a pattern of multiple congenital anomalies including a combination of orofacial clefts, micro- or anophthalmia, and postaxial polydactyly, which is easily identified and diagnosed on presentation (Carey et al., 2021). Table 25.3 compares trisomy 18 and 13 features.

Syndrome Features
Trisomy 18
  • Small, abnormally shaped head
  • Small jaw and mouth
  • Clenched fists with overlapping fingers and/or polydactyly
Trisomy 13
  • Heart defects
  • Brain or spinal cord abnormalities
  • Very small or poorly developed eyes (microphthalmia), which may include coloboma, an area of missing tissue in the eye
  • Polydactyly, cleft lip, and potentially a cleft palate
  • Weak muscle tone, hypotonia
Table 25.3 Comparison of Trisomy 18 and Trisomy 13 Features


Both disorders have a characteristic pattern of prenatal growth deficiency. Trisomy 18 presents with distinctive craniofacial features, hand posturing with overriding fingers and small nails, and a short sternum. These can be enough for a clinical diagnosis of the disease in utero, but confirmation of the syndrome requires a standard G-banded karyotype or, more recently, a cytogenomic single nucleotide polymorphism (SNP) microarray that shows the extra copy of chromosome 18 (Carey et al., 2021).

Trisomy 13 presents with orofacial clefts, micro- or anophthalmia, and postaxial polydactyly. However, any newborn with holoprosencephaly and multiple anomalies should be considered for the syndrome. Ear malformations, anterior frontal upsweep, and capillary malformations of the forehead are common enough in the syndrome to be helpful in determining a clinical diagnosis. Any clinical diagnosis of trisomy 13 needs to be confirmed with a SNP microarray or karyotype that shows three full copies of chromosome 13 or most of the long arm of chromosome 13. Maternal nondisjunction is the most common reason for the trisomy, accounting for approximately 90 percent of cases. However, mosaicism and translocation can also be the underlying cause for the extra genetic material (Carey et al., 2021).

Nursing Management

Both trisomy 18 and 13 result in anomalies that, without intervention and sometimes even with it, lead to death in the first months of life. Both are common disease processes present in miscarried zygotes or fetuses. Around 50 percent of newborns with trisomy 18 or 13 survive for longer than a week after birth, and 6 percent to 12 percent of those will live beyond a year (Carey et al., 2021).

Recently, the health-care community has changed the management paradigm for infants with trisomy 18 and 13. When parents choose to proceed with full intervention instead of comfort or palliative care only, pediatric otolaryngology and pediatric cardiology become involved in a multidisciplinary approach to care. The most likely driving factors in the interventional care of the patient with either trisomy 18 or 13 are respiratory (airway) and cardiac (congenital cardiac disorder) that will be treated early in life (Carey, 2021; Carey et al., 2021).

Turner Syndrome

Turner syndrome (TS) is a genetic disorder where phenotypic females have one X chromosome and complete or partial absence of the other sex chromosome. The syndrome is associated with typical clinical signs and/or symptoms that can include short stature, hypergonadotropic hypogonadism, infertility, middle ear infection, and other congenital malformations. In the newborn, the classic assessment findings are webbed neck, low birth weight, and congenital cardiac disease, most likely aortic arch related. The syndrome was first described by Henry H. Turner in a journal publication in 1938, but the disease pattern was previously described by Giovanni Battista Morgagni in 1768 and N. A. Shereshevski in 1930 (Gravholt et al., 2022).


Understanding of the genetics and genomics of TS is currently evolving as new information emerges from active research. New studies show “pervasive changes in methylation pattern and RNA expression” (Gravholt et al., 2022). New candidate genes for phenotypic expression and genotypic traits have emerged, although more research is needed in this area. The estimated prevalence of TS in newborns is approximately 64 per 100,000 (Gravholt et al., 2022); however, the number in the general population of adult women is significantly lower due to missed diagnosis and mortality. The average age of diagnosis is 15 years, but with newborn screening and cord blood testing, neonatal diagnosis is increasing (Gravholt et al., 2022).


Infants with TS will have some, though likely not all, features noted at birth. Other general features will emerge throughout their lifetime, some found in more cases than others. Table 25.4 lists the features of Turner syndrome.

Type of Features Features
At birth
  • Thick neck tissue
  • Swelling of the neck (cystic hygroma)
  • Small for gestational age
  • Heart conditions
  • Kidney abnormalities
  • Swollen hands from lymphedema
  • A particularly short, wide neck (webbed neck)
  • A broad chest and widely spaced nipples
  • Arms that turn out slightly at the elbows
  • A low hairline
  • Teeth problems
  • A large number of moles
  • Small, spoon-shaped nails
  • A short fourth finger or toe
  • Frequent acute otitis media or ear infections
  • Infertility
  • Short stature
Table 25.4 Turner Syndrome Features (National Health Service, 2023)

Most instances of TS are not inherited (Gravholt et al., 2022). Monosomy X is a random formation of reproductive cells in the parent of the person with TS. An error in cell division can result in reproductive cells with an abnormal number of chromosomes, in this case one less. If an atypical reproductive cell is a part of the genetic makeup of a zygote, each cell will possess a single X chromosome. The other sex chromosome will be missing, as it was missing in the original atypical cell. Mosaic Turner syndrome is also not an inherited condition. It occurs because of a random event during cell division in early fetal development. Mosaic TS results in some cells having the usual number of chromosomes and some cells having only one sex chromosome. In rare instances, TS can be from a partial deletion of the X chromosome, and this can pass from one generation to the next, the only inheritable form of the syndrome (Kikkeri & Nagalli, 2022).


The diagnosis of TS relies on both the clinical phenotype and a standard chromosomal analysis. A peripheral blood sample from the delivered cord or from the infant shows a partial or complete loss of the second sex chromosome in phenotypic females (Gravholt et al., 2017). It is recommended that all infants diagnosed prenatally have a postnatal karyotype to confirm the diagnosis (Gravholt et al., 2017). The most common karyotype of TS is 45, X (40 percent to 50 percent). The mosaic karyotype 45, X/46, XX is found in 15 percent to 25 percent of cases (Gravholt et al., 2017; Gravholt et al., 2022).

Nursing Management

Care of a newborn with TS will require an interdisciplinary team. Fifty percent of children with TS will have congenital heart disease, and almost all will have an underlying endocrinologic disease, with decreased growth and a high incidence of diabetes (Gravholt et al., 2017). After diagnosis of TS, an infant will need the care of a general pediatrician as well as a pediatric endocrinologist who may start therapy as early as 1 year of age to increase linear growth. A pediatric cardiologist should be consulted to monitor for aortic changes and to evaluate for prolonged QT intervals and the presentation of hypertension. A geneticist may be needed to counsel the family and delineate the specific genotype (Gravholt et al., 2017).

All newborns with suspected genetic disorders benefit from early diagnosis together with a team or developmental home where their care is coordinated by many different professionals and services, such as neonatologists, clinical geneticists, social workers, and developmental specialists along with needed therapies.

Congenital Heart Disease in the Newborn

Congenital heart disease (CHD) affects 0.6 percent to 1.9 percent of live births every year in the United States (Desai et al., 2023). Congenital cardiac defects can be divided into cyanotic lesions, those defects that shunt right to left (patients who have oxygen saturations less than 90 percent), and acyanotic lesions, defects that shunt left to right (expected oxygen saturations, 90 percent and above). Both cyanotic and acyanotic congenital cardiac defects can be divided again into increased pulmonary blood flow, decreased pulmonary blood flow, obstructed blood flow, and mixed lesions. Cyanotic heart defects are those that provide less than normal oxygenated blood to systemic circulation, resulting in a lowered oxygen saturation at baseline. These defects have an incidence of approximately 57 in 100,000 births (Sadowski, 2009). Congenital heart disease is one of the most common birth anomalies affecting neonates and one of the most survivable because palliative surgical options and medical management have improved significantly over the past few decades.

Ductal-dependent lesions depend on a patent ductus arteriosus to provide systemic blood flow. Examples of ductal-dependent defects are hypoplastic left heart syndrome (HLHS), coarctation of the aorta, interrupted aortic arch, critical aortic stenosis (AS), pulmonary stenosis (PS), pulmonary atresia with intact ventricular septum (PAIVS), tricuspid atresia (TA), and transposition of the great vessels (TGV).

Figure 25.7 illustrates congenital heart disease types grouped by category (Sadowski, 2009).

An educational diagram categorizing different congenital heart defects into cyanotic and acyanotic, with labeled illustrations showing the anatomy of each condition.
Figure 25.7 Congenital Heart Defects Congenital heart defects (CHD) occur in one in four live births and are among the most common congenital defects. Red blood denotes oxygenated blood, while blue blood shows venous return blood that has become deoxygenated. Purple blood shows mixing of both red and blue blood or mixing from the right and left sides of the heart. (attribution: Copyright Rice University, OpenStax, under CC BY 4.0 license)

Risk Factors

Risk factors for CHD can be broken down into six categories. Prematurity increases the incidence to 2 to 3 times that of a term newborn. Family history of a first-degree relative having a CHD is 3 to 4 times that of the general population. Left-sided obstructive lesions have a much higher recurrence risk in families. Genetic syndromes and other extracardiac congenital defects are commonly found in the CHD population. Chromosomal defects were found in 7 percent of patients who had CHD. Certain maternal conditions increase the risk of CHD in the fetus: obesity, type 1 or 2 diabetes mellitus, hypertension, phenylketonuria (PKU), thyroid disorders (hypothyroidism or hyperthyroidism), systemic connective tissue disorders (e.g., rheumatoid arthritis or lupus), and epilepsy (due to the anti-seizure medications used for seizure suppression). Maternal exposure to alcohol, smoking, phenytoin, and retinoic acid also increases the risk to the fetus. Assisted reproductive technology has also been linked to an increased risk of CHD, specifically septal defects (Altman, 2022). Congenital infections including maternal influenza and congenital rubella are also risk factors (Oster et al., 2011).

The most common congenital cardiac defect is the ventricular septal defect (VSD). One out of every four cardiac defects is a VSD or includes a VSD in its defects. A murmur is the most likely finding at the first pediatrician visit within the first few weeks of life that leads to a diagnosis of VSD. Not all VSDs require surgical repair, and not all VSDs present in the same way. Some are multiple holes between the ventricular septal wall, while others are a single large opening in the ventricular septal wall (Figure 25.8). Note that the murmur (the sound that is heard where turbulent blood flow occurs through the defect) will be louder, the smaller the opening.

Illustration of a heart with ventricular septal defects, with arrows pointing to multiple openings in the wall separating the left and right ventricles.
Figure 25.8 Ventricular Septal Defects A ventricular septal defect (VSD) is the most common congenital cardiac defect. In this image, it presents as multiple holes in the ventricular septal wall. (credit: modification of work “Heart right vsd” by Patrick J. Lynch/Wikimedia Commons, CC BY 2.5)


Congenital heart defects (CHD) occur in one in four live births and are among the most common congenital defects (see Figure 25.7). The structure and function of the heart and blood vessels are affected to varying degrees. Some conditions require very mild management and treatment. Others are life threatening and require staged palliative surgeries or a heart transplant (NCBDDD, 2022; Centers for Disease Control and Prevention [CDC], n.d.).


Prenatal screening with fetal ultrasound has increased the prenatal diagnosis of CHD to 50 percent to 60 percent. With the addition of initial screening for CHD done in the newborn nursery with a pulse oximetry test, most infants with a CHD are diagnosed prior to release from in-hospital care, or discharge. However, some diagnoses, due to their PDA dependence and timing of screening, are not found prior to discharge (Altman, 2022). Increased pulmonary blood flow leads to the signs and symptoms of tachypnea, retractions, nasal flaring, and tachycardia, with the ultimate concerns for respiratory distress or failure.

Nursing Management

The type of defect determines what constitutes appropriate management. Most CHDs require palliative surgery. Surgical repair does not occur because the heart itself is never repaired but can only be palliated for the best outcome. For example, the size or placement of a VSD can allow for monitoring to see if the hole closes over time rather than surgically closing the hole during the neonatal period. Some critical congenital heart defects require multiple staged surgeries throughout the patient’s first years of life. Postoperative care is managed in an intensive care unit, either a neonatal intensive care unit or a cardiothoracic intensive care unit.

Congenital Defects of the Gastrointestinal and Genitourinary Systems

An esophageal atresia (EA), also called a tracheoesophageal fistula (TEF), is a fetal development anomaly in which the esophagus connects to the trachea (Figure 25.9). It is relatively common, occurring in 1 in 3,000 births. EA can be found as a solitary defect or can be associated with other midline defects such as congenital cardiac defects. It is also found in syndromes, most notably VACTERL syndrome, each letter of the anachronym standing for vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies. and limb abnormalities (Oermann, 2022; Slater & Rothenberg, 2016).

Illustration showing a profile of an infant's head and neck, with areas highlighted to represent an esophageal atresia and tracheoesophageal fistula.
Figure 25.9 Esophageal Fistula in an Infant An esophageal fistula is depicted in the image where the esophagus connects to the trachea rather than to the stomach. There are multiple types of esophageal fistula configurations that all ultimately lead to a risk of aspiration from the esophagus communicating with the airway. (attribution: Copyright Rice University, OpenStax, under CC BY 4.0 license)


A TEF or an EA is caused by an error in fetal development of the lateral septation in the foregut that becomes the esophagus and trachea. The fistula tract that connects the esophagus and the trachea is thought to form a branch of the embryonic lung that does not continue to develop because of defective epithelial-mesenchymal interactions (Oermann, 2022).


The connection between the trachea and esophagus can lead to an excessive amount of air in the stomach, depending on where the connection arises and where the fistula occurs between the two organs, esophagus and trachea. The infant is unable to feed without aspirating oral liquids crossing from the esophagus to the trachea and subsequently into the lungs.


The most common signs and symptoms of this disorder are the three C’s—coughing, choking, and cyanosis—particularly exhibited during feeding. Esophageal atresia, in which the esophagus ends before reaching the stomach, can be diagnosed by attempting to pass an oral or nasal catheter into the stomach and not being able to reach the gut. With the catheter in, chest and abdominal x-ray images confirm the shortened esophagus. A distal TEF is diagnostically confirmed with both an anterior-posterior and lateral chest x-ray showing a fully gas-filled stomach and intestines. A proximal TEF can be diagnostically confirmed with a fluoroscopic study using a small amount of water-soluble contrast. Barium should not be used because of the risk for aspiration and subsequent pneumonitis (Oermann, 2022). For more difficult TEF positioning, diagnosis includes an upper gastrointestinal series with water-soluble contrast. If the diagnosis is still unclear, a CT scan with airway reconstruction can clarify the anatomy of the airway (Oermann, 2022).

Nursing Management

Surgery to disconnect the trachea and esophagus or to connect the atretic esophagus to the stomach is the treatment. Preoperatively, the neonate would be NPO with no oral or gastric feeds or medications. Their nutrition would be provided by intravenous methods with partial or total parenteral nutrition (PPN or TPN). Postoperative management includes ventilatory weaning and extubation as soon as possible. An esophagram is obtained on approximately postoperative day 5 to evaluate for a leak. If there is no leak after surgical intervention, feeds can be started. Antireflux medication is usually recommended postoperatively (Slater & Rothenberg, 2016).

Gastroschisis and Omphalocele

Gastroschisis and omphalocele are the two most common congenital abdominal wall defects. Both have an incidence of around 1 in 4,000 live births, though omphalocele is found 1 in 1,100 during second trimester ultrasound scans. The frequency of fetal demise for omphalocele is almost 3 in 4. The incidence of gastroschisis has been increasing over the past few decades without any known cause, though socioeconomic status and environmental factors have been linked to the rise (Bence & Wenger, 2021).


One common abdominal wall defect is gastroschisis, which is found to the right side of the umbilicus where the protective covering over the herniated abdominal contents is missing. The fetal development defect is not fully understood, but it may be from disruption of movement of the lateral ventral body folds early in embryonal development (Bence & Wenger, 2021).

The other common abdominal wall defect is omphalocele, which occurs at the abdominal midline and is thought to be due to a folding defect that happens as the bowel returns to the abdominal cavity during expected development. The defect involves the umbilical ring and is encased by a three-layer sac—peritoneum, Wharton’s jelly, and amnion (Figure 25.10).

Illustrations of a newborn with birth defects. (a) A newborn with the intestines located outside of the body through an opening near the umbilical area. (b) A newborn with the absence of a covering membrane over the protruding intestines, which are to the right of the umbilicus.
Figure 25.10 Gastroschisis and Omphalocele (a) An omphalocele occurs when the abdominal contents are outside the abdomen but within a peritoneal sac. (b) Gastroschisis occurs when the abdominal contents slip outside the abdomen without a sac. (credit: Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Public Domain)


Over 90 percent of fetuses with gastroschisis are diagnosed in utero by ultrasound showing free-floating intestines. Most are found in the second trimester, as the full rotation and completion of gut development does not occur until the end of the first trimester (Bence & Wenger, 2021).

Omphalocele defects can range widely in size and severity and are more often found with concurrent congenital anomalies or comorbidities—chromosomal, cardiac, genitourinary, musculoskeletal, gastrointestinal, and/or neurologic (Bence & Wenger, 2021). Similarly, omphalocele defects are also found on ultrasound, though diagnosis occurs at the end of the first trimester, around half the time with the ultrasound finding herniated abdominal contents midline (Slater & Pimpalwar, 2020).

Nursing Management

Current practice is mixed for gastroschisis, with some providers initiating early delivery (prior to 37 weeks’ gestational age) and others waiting until the fetus is full term for delivery. Delivery vaginally or via cesarean section has not been found to have a significant effect on the newborn. Practice for omphalocele is less mixed. Because of the higher risk for sac rupture during vaginal delivery, term delivery via cesarean section is more common (Bence & Wenger, 2021). Preparing the birthing parent for frequent testing, nonstress test (NST), biophysical profile (BPP), and sonographic amniotic fluid index weekly to monitor for fetal distress or demise is a part of the nursing role, along with preparation for either an induced or a cesarean delivery.

In the past couple of decades, novel approaches to the treatment of gastroschisis before surgery as a newborn have been added to the potential treatment list. One is amnioexchange, where the amniotic fluid is removed and normal saline is used to replace it because amniotic fluid is inflammatory to the bowels that are exposed in utero. Another potential prenatal treatment could be a fetoscopic intervention, where the intestines are covered in utero or they are placed into the abdominal space and the defect is surgically closed (Bence & Wenger, 2021).

Small omphalocele defects are surgically closed in the newborn with one surgery. Staged surgeries may be required if the amount of the bowel content within the sac is large (Bence & Wenger, 2021). MRI while in utero may be helpful in determining the size of the defect and what to expect for the newborn surgically after birth.

The neonate with gastroschisis or omphalocele is cared for in a NICU both before and after surgery. Frequent monitoring of intake and output, temperature, and signs and symptoms of infection is required. Educating the family about prenatal treatment options and the likely need for surgery to close the defect after birth is the nursing role.


One common congenital limb deformity is congenital talipes equinovarus (CTEV), or clubfoot. It has a range of presentations with different degrees of involvement and severity (Canavese & Dimeglio, 2021).


Approximately 1 to 3 in 1,000 live white infant births are affected with clubfoot. Prevalence is variable between ethnic groups, with people of Polynesian ancestry having the highest prevalence at 7 in 1,000 live births. Males are affected twice as often as females (Magriples, 2021). A genetic origin has been determined by clinical studies over the past century, but the gene responsible has not yet been identified (Ippolito & Gorgolini, 2021).


Clubfoot is an isolated idiopathic congenital disorder in which 80 percent of cases are not associated with any chromosomal or genetic anomalies or underlying disease process. Clubfoot is an intrinsic outcome of some neurologic, muscular, skeletal, or connective tissue diseases and is found to be included in over 50 identifiable syndromes, spina bifida being the most common (Magriples, 2021). External environmental factors affecting the fetus can also cause clubfoot. Instances of growth impedance in multiple gestation, malpresentation, uterine cavity abnormalities like fibroids or amniotic bands, breech position, or oligohydramnios can all cause clubfoot (Magriples, 2021).

Risk factors for clubfoot include family history of relatives with the congenital defect, extrinsic conditions that restrict fetal foot growth and movement, a fetal neuromuscular disorder, maternal or paternal tobacco use, maternal obesity, early amniocentesis (done before 15 weeks’ gestation), maternal use of selective serotonin reuptake inhibitors (SSRIs), and male sex (Chen et al., 2018).

Nursing Management

Nursing management for the newborn with clubfoot includes direct assessment of the lower limbs, their range of motion, and presentation. The nurse’s role is primarily to give information to the birth parent or family of the newborn, educating them on the future plan of care and the ultimate goals of mobility, and alleviating any underlying concerns or fears they may have about clubfoot.

The gold standard treatment for clubfoot is the Ponseti method, serial manipulation of the foot and ankle with casting and percutaneous Achilles tenotomy followed by long-term use of a foot abduction brace (Figure 25.11)

(a) Photograph of an infant with a clubfoot deformity. The foot is turned inward at the ankle. (b) Illustration of the different grades of clubfoot severity on a scale from one to five from mild (one) to severe (five).
Figure 25.11 Treatment of Congenital Talipes Equinovarus in Infants (a) The newborn foot is only 30 percent ossified and has much more mobility than a child's foot. (b) Serial casting is the gold standard treatment for clubfoot in infants. (credit a: James W. Hanson; credit b: attribution: Copyright Rice University, OpenStax, under CC BY 4.0 license)

While the limb or limbs are cast, the nurse assesses for adequate perfusion distal to the cast and identifies any skin breakdown or area that is at risk for skin breakdown. As casting occurs, the calf muscles may become atrophied, or smaller than expected, resulting in pain or soreness with activity. Nonpharmacologic interventions such as heat or cold packs and massage can be provided and encouraged at home.

If treatment for clubfoot is not provided, lifelong disability, deformity, and pain result. Surgical treatment may be required. There are a variety of surgical procedures (Gelfer et al., 2022; Magriples, 2021).

Infants of Pregnant People with Diabetes

Neonates born to a person with diabetes—gestational, type 1, or type 2—are more likely to have adverse outcomes. High blood glucose at time of conception can even affect the outcome of the pregnancy, with a greater risk of stillbirth, preterm birth, and congenital birth defects (CDC, 2018). Congenital anomalies are 3 times more likely in infants of people with diabetes than in infants who do not experience the uterine environment of diabetes. Central nervous system defects such as anencephaly and spina bifida occur 16 times more often, and cardiac anomalies occur in 30 percent of infants born to people with diabetes (Carlo & Ambalavanan, 2016). In addition, newborns born to pregnant persons with diabetes are at risk for birth injury due to increased neonatal size (CDC, 2018).

Signs and Symptoms

The infant born to a person with diabetes will be at risk for hypoglycemia after birth. Classic presentations of an infant born to a diabetic birthing person include macrosomia, or a size larger than expected for gestational age in a neonate, and being heavily coated with vernix. The hypoglycemic infant can be asymptomatic, though tremors or jitteriness is the most common sign and symptom, if one is seen. The infant can also have a large placenta to go along with their large size. Infants born to people with advanced diabetes may be the opposite: small for gestational age or having intrauterine growth restriction (IUGR). All infants with a maternal history of DM will have an increased occurrence of hypocalcemia, hyperbilirubinemia, hypomagnesemia, and respiratory distress syndrome (Shah et al., 2022) in the neonatal period.

Nursing Management

Managing these infants requires close monitoring of serum glucose levels and frequent assessment to evaluate for respiratory distress and hypothermia. If the infant is stable, feeding by mouth within the first hour of life is the best nutritional plan (Shah et al., 2022). The newborn may respond robustly to dextrose-containing fluids because of their sensitivity to insulin release. Due to the increased size of some of these infants, delivery injuries can be common. Early identification leads to early treatment and best outcomes.

Drug-Exposed Infant

Infants born to persons who have used drugs during pregnancy will have a variety of symptoms related to the agent or agents they are withdrawing from. This substance use can result in neonatal abstinence syndrome (NAS), which occurs when the newborn has been exposed to drugs, legal or illegal, that are no longer available, resulting in withdrawal. These signs can potentially include tremors, irritability, disorganized feeding, and an inability to be consoled. Newborns will usually begin exhibiting withdrawal symptoms within 24 to 36 hours after birth, but the onset of symptoms may be delayed up to 7 days. Newborns exposed to alcohol while in utero exhibit withdrawal symptoms at only 3 to 12 hours after birth (Schaff et al., 2019).

Signs and Symptoms

Newborns in withdrawal have been connected to their birthing parent’s bloodstream. Whatever substances the birthing parent ingests, the fetus is exposed to. When the fetus is delivered, their supply has been abruptly stopped. The most common symptoms seen in newborns withdrawing from any kind of addictive substances—opioids, narcotics, benzodiazepines, nicotine, or alcohol—are excessive high-pitched crying, hyperactive Moro reflexes, mild to moderate tremors in one or both hands or feet, increased muscle tone, myoclonic jerks (twitching/jerking) of their limbs or face, hyperthermia, frequent yawning, sneezing, and respiratory distress. Additionally, the nurse will notice that the infant has gastrointestinal symptoms. These include disorganized feeding that appears as excessive sucking, uncoordinated sucking leading to frustration, projectile vomiting, and loose and watery stool (Chin Foo et al., 2021). Table 25.5 lists the neurologic signs of drug withdrawal in the newborn.

Maternal or Medical Substance Neurologic Symptoms in Newborn
Nicotine Increased Moro reflex, excessive high-pitched cry, tremors, sleep problems, hypertonia, seizures, fever, inconsolability
Alcohol High-pitched cry, sleep problems, decreased suck reflex, poor coordination with feeding, hyperreflexia, inconsolability
Marijuana Jitteriness and irritability (Hale & Phillips, 2022)
Opioids (maternal exposure or medical treatment) Tremors, hyperreflexia, hypertonia, inconsolability, high-pitched cry, poor coordination with feeds, respiratory distress, sleep problems, diarrhea, sneezing, jaundice, seizures, death
Cocaine Tremors, hyperreflexia, hypertonia, inconsolability, high-pitched cry, poor coordination with feeds, respiratory distress, sleep problems, diarrhea, sneezing, jaundice, seizures, death
Benzodiazepines Tremors, hyperreflexia, hypertonia, inconsolability, high-pitched cry, poor coordination with feeds, respiratory distress, sleep problems, diarrhea, sneezing, jaundice, seizures, death
Table 25.5 Neurologic Signs Seen in Drug-Positive Newborns


If the newborn is exhibiting any withdrawal symptoms, the nurse can use the Finnegan Neonatal Abstinence Scoring Tool (FNAST) (Bagley et al., 2014) to determine how to manage care. Serial scores are used to measure the infant’s progress.


Different facilities will have slightly different protocols for managing infants with NAS. The Finnegan Management Algorithm is one example. The use of FNAST scoring helps the nurse monitor the newborn’s need for more intense intervention, such as being transferred to the NICU. Specialists in the NICU can then manage the newborn’s medication to help with withdrawal symptoms and prevent the newborn from becoming overwhelmed. The treatment can include benzodiazepines, alpha adrenergics, or weaning off the opioid over time. Newborns who experience withdrawal symptoms are at risk for seizures, respiratory failure, and failure to thrive.


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