CASE STUDIES

AbstractPrenatal testing and screening is

considered routine. Genetic

breakthroughs have increased use of

this technology, however, these tests

come with a price. There are

psychological prices, as well as

financial prices. Pregnancy and

childbirth are natural influences in

producing a maturational crisis. When

added with the potential for a negative

test result and pregnancy outcome, the

crisis can be overwhelming and last a

lifetime. Three cases are presented to

illustrate this crisis and the nurse’s

role.

Copyright 2002, Elsevier Science

(USA). All rights reserved.

When Things GoAwryBy Lisa A. Dreyer, MSN, RNC, CNS

Advances in obstetrical health care, genetic knowledge, consumer de-mand, and litigation have led to a proliferation of prenatal screeningand testing. However, these technologies have both financial and

psychological implications for the families and health care providers. Theability to identify abnormalities early in the pregnancy can have an overwhelm-ing impact on the family. This article presents 3 cases that illustrate potentialcrises, coping, and the role of nurses in the process.

Pregnancy and birth are typically a normal, exciting, happy event in the lifeof a woman and her significant other. Under the best of circumstances, from thetime of conception to the birth event and thereafter, major changes take placeboth physiologically and psychologically for the family. A significant transi-tion, frequently referred to as a maturational or developmental crisis, takesplace resulting in a state of disequilibrium.1–4 This normal life event results inthe utilization of coping mechanisms in order to adapt. Any unexpected crisisor stressful event, and the perception of the event, may tax coping mecha-nisms.4,5 It is essential the obstetric and newborn health professionals workcollaboratively to provide as much support possible to the family in crisis.Prenatal screening for a suspected problem adds to the crisis. Advances inprenatal screening techniques, combined with other factors, have led to anincrease in the number of women receiving prenatal testing. The nurse often hasthe responsibility of assisting and supporting the woman and her family as theywait for results and, to help them understand the results. A brief review ofprenatal screening is followed by case studies that should generate criticalthinking about these complex issues.

Prenatal Testing and Screening

Technologic advances in perinatal and neonatal testing and screening, alongwith mapping of the human genome, have made it possible to diagnose

potential problems prior to conception or identify a multitude of fetal anomaliesand genetic disorders in utero. For those women who seek adequate prenataland perinatal care, tests may range from a simple, noninvasive ultrasound to aninvasive procedure such as the Triple or Quadruple Screen, PercutaneousUmbilical Blood Sampling (PUBS), amniocentesis, or Chorionic Villus Sam-pling (CVS). Approximately 98% of testing and screening leads to reassurancefor the woman and her family that fetal development is progressing normally.Unfortunately, approximately 2% of the cases identify a problem, such as aphysical or chromosomal anomaly that may or may not be treatable or worse,incompatible with life.6,7 The additional challenges and uncertainties thrustupon the woman and her family, along with the normal stresses and roletransitions of a normal pregnancy, have implications for the family, includ-ing separation from their infant, economic, psychosocial, and developmentalchallenges.5,7–9

From The University Hospital, Cincinnati, OH.Address reprint requests to Lisa A. Dreyer,

MSN, RNC, CNS, 5747 Auberger Dr, Fairfield,OH 45014. E-mail: lisadreyer@aol.com

Copyright 2002, Elsevier Science (USA).All rights reserved.

1527-3369/02/0204-0008$35.00/0doi: 10.1053/nbin.2002.35890 Newborn and Infant Nursing Reviews, Vol 2, No 4 (December), 2002: pp 243–246 243

The following case studies illustrate challenges thatfamilies and the health care team experience when thingsgo awry.

The Case of Baby Iris

Baby Iris was delivered to a 24-year-old gravida 1 para0 at 352/7 weeks gestation by spontaneous vaginal

delivery (SVD). On admission to the labor and deliveryunit, the mother was contracting per tocodynamometerevery 2 to 3 minutes, moderate to strong in intensity bypalpation. The cervix was 6 cm dilated and 100% effaced,and the fetus was determined to be at �1 station with themembranes intact. The fetal heart rate, assessed by exter-nal ultrasound, ranged from 143 to 155 beats per minute(bpm), with average long-term variability, accelerationsand mild variable decelerations noted. The labor coursewas uneventful with the exception of premature labor anddelivery. The mother had “scant prenatal care,” a ques-tionable social history, and was currently cohabitatingwith the father of the baby.

The pediatric team was notified and present for deliv-ery. Apgar scores were 3, 5, and 8 at 1 minute, 5 minutes,and 10 minutes, respectively. Bubble Continuous PositiveAirway Pressure (BCPAP) was initiated in the deliveryroom and the infant was transported to the neonatal inten-sive care unit (NICU) with an initial diagnosis of respira-tory distress syndrome (RDS). Upon admission to theNICU, the infant was stabilized, thermoregulation wasmaintained, cardiorespiratory monitoring and pulse oxim-etry were initiated, laboratory studies were obtained, in-travenous (IV) access was initiated with fluids and antibi-otics infusing, and the infant was maintained on BCPAP ata 5/40%. Physical examination revealed hypotonia whicheventually improved, a recessed chin, upward slanted pal-pebral fissures, a prominent forehead with excessive hairnoted, large anterior fontanel, a broad nasal bridge, highpalate, significant heart murmur, and slightly shortenedlimbs and digits. A head ultrasound was negative and thechest radiograph revealed an enlarged heart and bilateralinfiltrates. Echocardiogram revealed a significant patentductus arteriosus (PDA). The neonatology team suspecteda syndrome. The parents were told by the health care teamthat the problems might be linked to a genetic condition,so genetic testing was indicated. The parents refused thistesting. The baby’s oxygen was weaned from BCPAP tonasal cannula on day 9 of life and maintained at onequarter liter and 21% to 25% to keep oxygen saturation93% to 100%. Oral feedings were initiated, with the infantnippling well and tolerating feeds without signs of distressby day 23. The infant was discharged home on day 29 of

life in good condition with follow-up to take place at atertiary center.

The Case of Baby Ricky

Baby Ricky was delivered at 285/7 weeks gestation toa 27-year-old gravida 3 para 2 by assisted vaginal

delivery. The mother had presented to the labor and de-livery unit at 255/7 weeks gestation by last menstrualperiod (LMP) in premature labor with no prenatal care. Onadmission, the fetal heart rate (FHR) was 155 to 160 bpm,with repetitive variable decelerations per external ultra-sound. Contractions were assessed using an external toco-dynamometer to be every 1.5 to 2 minutes and palpated tobe of moderate intensity. Cervical dilation was 3 cm and50% effaced, and the fetus was ballottable. Membraneswere intact, with the patient denying any vaginal fluidleakage or bleeding. Admission temperature was 100.2°F,pulse 113, respirations 20, and blood pressure 117/70.

Laboratory studies were collected for a type and screen,complete blood count (CBC), rubella titer, serology, hep-atitis, human immunodeficiency virus (HIV), and urinal-ysis. The patient was O�, rubella immune, and all screen-ings were negative. The CBC revealed an elevated whiteblood count (WBC) and decreased red blood cells (RBC),hemoglobin (Hgb), and, hematocrit (Hct). The amnioticfluid index (AFI) by real time ultrasound examination was2.5, and nonimmune fetal hydrops was diagnosed. Thepatient was started on a regimen of tocolytics to stop labor,steroids to stimulate fetal lung maturity, IV for hydration,and intermittent oxygen therapy via nasal cannula for fetalindications, and continuous fetal monitoring. The neonatalhealth care team, called in to care for the baby, discussedwith the parents the prognosis. On day 4, the patient wasgiven 2 units of packed red blood cells (PRBC) for con-tinued anemia. Daily, real-time ultrasonography was per-formed to assess fetal edema and amniotic fluid index;fetal edema continued to increase and the AFI increased to3.0. The obstetrician discussed prognosis of the pregnancyand options with the family who decided to continue thepregnancy as long as possible.

On day 10 following admission to the labor and deliv-ery unit, contractions were rare, FHR was 145 to 155 withaverage long-term variability and intermittent mild tomoderate variable decelerations, maternal vital signs andlaboratory data were stable, and the AFI was 4.0. Thepatient was transferred to the antepartum unit for contin-ued monitoring.

On day 21, the patient was transferred back to the laborand delivery unit for induction of labor due to a nonreas-suring fetal heart rate and decreased AFI. The cervicalexamination remained unchanged from admission prior to

244 Lisa A. Dreyer

the start of induction of labor with oxytocin (Pitocin). Thefetus demonstrated a questionable sinusoidal fetal heartrate pattern initially, frequent decreased long-term vari-ability, variable decelerations, variable decelerations withlate timing, and periods of late decelerations throughoutlabor. The neonatal team was present for the delivery.Generalized edema with massive ascites was noted ondelivery. A full resuscitation was required. Apgar scoreswere 1, 1, 0, and 0 at 1 minute, 5 minutes, 10 minutes, and15 minutes, respectively. The infant expired at 32 minutesof life.

The Case of Baby M

A 24-year-old gravida 4 para 0 was admitted to thelabor and delivery unit from her physician’s office

for induction of labor at 374/7 weeks gestation due tointrauterine fetal demise (IUFD). The patient had a historyof 2 spontaneous abortions and 1 IUFD, insulin-dependentdiabetes mellitus since age 12, and inadequate prenatalcare. The mother followed a prescribed diabetic diet andinsulin regimen. Admission blood sugar was 217 mg/dL.Ultrasound confirmed absence of fetal heartbeat, oligohy-dramnios, renal agenesis, and caudal regression syndrome.The cervix was closed, thick, and posterior, and no uterinecontractions were noted. The insulin protocol for labor anddelivery was initiated, and the patient’s blood sugar sta-bilized prior to induction.

A stillborn infant was delivered 27 hours and 39 min-utes later, with a grade III placenta noted. Gross physicalassessment revealed fusion of the lower extremities withno identifiable feet, and no external genitalia or rectumwas noted. The ears were noted to be low-set, and the chinwas receding. The mother and family refused to see orhold the infant, and the infant was transferred to the NICUfor further examination by the genetics team prior to beingtransferred to the morgue. A memory box was made ofhandprints, the infant’s hat and blanket, a lock of hair, anda picture of the infant (head and upper thorax). The motherrefused the memory box and was then informed it wouldbe saved for her for 5 years, in case she changed her mind.The patient was discharged home on postpartum day 2 ingood condition with suggestions that she and the fatherundergo genetic testing when she felt up to it.

Prenatal testing figured in each of these 3 cases. Eachscenario had a possible genetic linkage that could presentin future pregnancies. It is important for newborn andinfant nurses to be knowledgeable about genetic testingmethods, so that appropriate care and referrals can beprovided to families. It is also important nurses recognizethe multiple implications that the testing will have on thefamily, even when the testing is ultimately normal. For

some families, the birth of a healthy baby after beinginformed there might be a problem does not completelyrelieve their fears about future offspring. Each of thesefamilies also experienced a maturational crisis. They ex-panded their family unit. Even when things do not goawry, this change produces a crisis that requires adaptationand support. Newborn and infant nurses must consider thisadaptation in light of the genetic testing/prenatal screeningissues as well. Nurses must determine what the family hasbeen told about the need for the screening and evaluatetheir understanding of the test results. With this knowl-edge, the nurse can then reinforce this information anddetermine if more follow-up is needed.

The Secretary’s Advisory Committee on Genetic Test-ing (SACGT) is examining the issues of genetic testingand screening.10 With the rise in the use of tandem spec-trometry, the possibilities for testing are multiplying. Yetfor many of these conditions, there is no cure, and qualityof life cannot necessarily be improved. Yet families arebeing asked to have this testing done. The question be-comes to what end and who decides? Do families have theright to refuse or do we have the right to coerce them intothe testing?11 For some families the question also becomeswho has access to this information? All of these questionsare part of the continuing discussions of the SACGT.

The following critical thinking questions are meant toraise awareness of some of the issues that surround pre-natal/genetic testing and screening.

Critical Thinking Questions

● What impact does preconception counseling and prenatal carehave on the outcome for both mother and fetus?

● Were these outcomes foreseeable or preventable?● How was genetics, environment, or a combination linked to the

outcomes in these cases?● How can the health care team best support these families in

crisis and through the grief process?● What are your priorities for the psychological care of these

families?● How does genetic testing and screening fit into future child-

bearing options for the family?● What is the role of the newborn and infant nurse in caring for

these women and their families?● What are the ethical dilemmas faced in each case?

References

1. Lederman R: Psychosocial Adaptation in Pregnancy (ed 2). NewYork, NY, Springer Publishing, 1993

2. Tilden VA: A developmental conceptual framework for the mat-urational crisis of pregnancy. West J Nurs Res 2:667–679, 1980

3. Nichols F, Zwelling E: Maternal Newborn Nursing: Theory andPractice. Philadelphia, PA, W.B. Saunders, 1997

When Things Go Awry 245

4. Zwelling E, Phillips C: Family-centered maternity care in the newmillennium: Is it real or is it imagined? J Perinat Neonatal Nurs 15(3):1–12, 2001

5. McGrath, JM: Building relationships with families in the NICU:Exploring the guarded alliance. J Perinat Neonatal Nurs 15(3):74–83, 2001

6. Kenner C, Dreyer LA: Prenatal and neonatal testing and screen-ing: A double-edged sword. Nurs Clin North Am 35:627–642, 2000

7. Bryar SH: One day you’re pregnant and one day you’re not:Pregnancy interruption for fetal anomalies. J Obstet Gynecol NeonatalNurs 26:559–566, 1997

8. Hickey PA, Rykerson S: Caring for parents of critically ill infantsand children. Crit Care Nurs Clin North Am 4:565–571, 1992

9. Miles MS, Funk SG, Kasper MA: The neonatal intensive care unitenvironment: Sources of stress for parents. AACN Clin Issues 2:346–354, 1991

10. Secretary’s Advisory Committee on Genetic Testing (SACGT):Genetic Testing and Public Policy: Preparing Health Professionals. Bal-timore, MD, SACGT, 2002

11. Bennett R: Antenatal genetic testing and the right to remain inignorance. Theor Med Bioeth 22:461–471, 2001

246 Lisa A. Dreyer