-
Advances in Neonatal Care : Official... Jun 2020In 2017, the Nebraska Unicameral passed legislative bill 506, which required physicians to inform patients carrying fetuses diagnosed with a life-limiting anomaly of the...
BACKGROUND
In 2017, the Nebraska Unicameral passed legislative bill 506, which required physicians to inform patients carrying fetuses diagnosed with a life-limiting anomaly of the option to enroll in a comprehensive perinatal hospice program. The bill also required the Department of Health & Human Services to provide information about statewide hospice programs. Families enrolled in hospice programs are better prepared for the birth and death of their child. This large academic medical center was listed on the registry but did not have a formal perinatal hospice program.
PURPOSE
Implementation of a comprehensive perinatal hospice program.
METHODS
The program was designed and implemented, beginning with the formation of an interdisciplinary team. Guidelines were developed for program referral, care conferences, team communication, and family follow-up. The team was educated. Electronic record documentation and order set were implemented. A data collection process was developed to track referrals and critical data points.
RESULTS
The perinatal hospice program has been accepting referrals but has not had any qualifying referrals.
IMPLICATIONS FOR PRACTICE
The development of an evidence-based guideline for referral that can improve referral consistency. While trisomy 13 and 18 diagnosis was historically considered life-limiting, these families now have the option of full intervention and transfer for specialists.
IMPLICATIONS FOR RESEARCH
Future research will include collecting data from patients who could have benefited from hospice, including infants who were born 20 to 22 weeks, or for maternal reasons. Future research will evaluate the experience after bereavement, the hospice team's experience, and the effectiveness of the referral process.
Topics: Female; Health Policy; Health Services Accessibility; Hospice Care; Humans; Infant, Newborn; Nebraska; Needs Assessment; Palliative Care; Patient Care Team; Pregnancy; Prenatal Diagnosis; Program Development; Referral and Consultation; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 32384325
DOI: 10.1097/ANC.0000000000000755 -
Revista Brasileira de Ginecologia E... Jul 2018Mirror syndrome is an unusual pathological condition in which maternal edema in pregnancy is seen in association with severe fetal and/or placental hydrops. The disease...
Mirror syndrome is an unusual pathological condition in which maternal edema in pregnancy is seen in association with severe fetal and/or placental hydrops. The disease can be life-threatening for both the mother and the fetus. The pathogenesis is poorly understood, and may be confused with preeclampsia, even though distinguishing features can be identified. We report a rare case of mirror syndrome with maternal pulmonary edema associated with fetal hydrops due to Patau syndrome.
Topics: Adult; Edema; Female; Humans; Hydrops Fetalis; Pregnancy; Pregnancy Complications; Syndrome; Trisomy 13 Syndrome
PubMed: 29768639
DOI: 10.1055/s-0038-1653975 -
Obstetrical & Gynecological Survey May 2016Pregnancies complicated by trisomy 13 (T13) or trisomy 18 (T18) present unique challenges for obstetric management. From the initial diagnosis, the task of counseling... (Review)
Review
Pregnancies complicated by trisomy 13 (T13) or trisomy 18 (T18) present unique challenges for obstetric management. From the initial diagnosis, the task of counseling these women and families is difficult because fetal and neonatal outcomes vary depending on the phenotype and degree of intervention chosen by the family. A literature review was performed using PubMed to gather information regarding obstetric management and outcomes of pregnancies complicated by T13 and T18. Spontaneous abortion and in uterofetal demise occur at rates well above those seen in chromosomally normal pregnancies. In addition, infants with T13 or T18 frequently have structural anomalies, which lead to worse prognoses and long-term survival. In cases in which a woman and her family desire to continue the pregnancy, multidisciplinary consultation with obstetrics, social work, genetics, and pediatrics can optimize care of both the fetus and the mother. Most commonly, prenatal care does not differ from routine. A detailed delivery plan should be generated, specifically discussing interventions for the patient and her fetus. When managing pregnancies complicated by T13 and T18, active, open, and frequent communication between the patient, her family, and a multidisciplinary health care team throughout the pregnancy is crucial.
Topics: Abnormalities, Multiple; Chromosome Disorders; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Female; Fetal Diseases; Genetic Counseling; Genetic Testing; Humans; Infant, Newborn; Neonatal Screening; Pregnancy; Pregnancy Outcome; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Ultrasonography, Prenatal
PubMed: 27182826
DOI: 10.1097/OGX.0000000000000304 -
American Journal of Medical Genetics.... Mar 2020The frequent occurrence of congenital heart defects (CHDs) in chromosome abnormality syndromes is well-known, and among aneuploidy syndromes, distinctive patterns have...
The frequent occurrence of congenital heart defects (CHDs) in chromosome abnormality syndromes is well-known, and among aneuploidy syndromes, distinctive patterns have been delineated. We update the type and frequency of CHDs in the aneuploidy syndromes involving trisomy 13, 18, 21, and 22, and in several sex chromosome abnormalities (Turner syndrome, trisomy X, Klinefelter syndrome, 47,XYY, and 48,XXYY). We also discuss the impact of noninvasive prenatal screening (mainly, cell-free DNA analysis), critical CHD screening, and the growth of parental advocacy on their surgical management and natural history. We encourage clinicians to view the cardiac diagnosis as a "phenotype" which supplements the external dysmorphology examination. When detected prenatally, severe CHDs may influence decision-making, and postnatally, they are often the major determinants of survival. This review should be useful to geneticists, cardiologists, neonatologists, perinatal specialists, other pediatric specialists, and general pediatricians. As patients survive (and thrive) into adulthood, internists and related adult specialists will also need to be informed about their natural history and management.
Topics: Aneuploidy; Child, Preschool; Chromosome Disorders; Down Syndrome; Female; Heart Defects, Congenital; Humans; Infant; Karyotyping; Klinefelter Syndrome; Male; Pregnancy; Prenatal Diagnosis; Trisomy 13 Syndrome
PubMed: 31868316
DOI: 10.1002/ajmg.c.31760 -
American Journal of Obstetrics and... Oct 2023Analysis of cell-free DNA from maternal blood provides effective screening for trisomy 21 in singleton pregnancies. Data on cell-free DNA screening in twin gestations...
BACKGROUND
Analysis of cell-free DNA from maternal blood provides effective screening for trisomy 21 in singleton pregnancies. Data on cell-free DNA screening in twin gestations are promising although limited. In previous twin studies, cell-free DNA screening was primarily performed in the second trimester and many studies did not report chorionicity.
OBJECTIVE
This study aimed to evaluate the screening performance of cell-free DNA for trisomy 21 in twin pregnancies in a large, diverse cohort. A secondary aim was to evaluate screening performance for trisomy 18 and trisomy 13.
STUDY DESIGN
This was a retrospective cohort study of twin pregnancies from 17 centers for which cell-free DNA screening was performed from December 2011 to February 2020 by one laboratory using massively parallel sequencing technology. Medical record review was conducted for all newborns and data on the birth outcome, the presence of any congenital abnormalities, phenotypic appearance at birth, and any chromosomal testing that was undertaken in the antenatal or postnatal period were extracted. Cases with a possible fetal chromosomal abnormality with no genetic test results were reviewed by a committee of maternal-fetal medicine geneticists. Cases with a vanishing twin and inadequate follow-up information were excluded. A minimum of 35 confirmed cases of trisomy 21 was required to capture a sensitivity of at least 90% with a prevalence of at least 1.9% with 80% power. Test characteristics were calculated for each outcome.
RESULTS
A total of 1764 samples were sent for twin cell-free DNA screening. Of those, 78 cases with a vanishing twin and 239 cases with inadequate follow-up were excluded, leaving a total of 1447 cases for inclusion in the analysis. The median maternal age was 35 years and the median gestational age at cell-free DNA testing was 12.3 weeks. In total, 81% of the twins were dichorionic. The median fetal fraction was 12.4%. Trisomy 21 was detected in 41 of 42 pregnancies, yielding a detection rate of 97.6% (95% confidence interval, 83.8-99.7). There was 1 false negative and no false positive cases. Trisomy 21 was detected in 38 out of 39 dichorionic twin pregnancies, yielding a detection rate of 97.4% (95% confidence interval, 82.6-99.7). Trisomy 18 was detected in 10 of the 10 affected pregnancies. There was 1 false positive case. Trisomy 13 was detected in 4 of the 5 cases, yielding a detection rate of 80% (95% confidence interval, 11.1-99.2). There was one false negative and no false positive cases. The nonreportable rate was low at 3.9 %.
CONCLUSION
Cell-free DNA testing is effective in screening for trisomy 21 in twin gestations from the first trimester of pregnancy. Detection of trisomy 21 was high in dichorionic and monochorionic twins, and the nonreportable result rates were low. This study included high numbers of cases of trisomy 18 and 13 when compared with the current literature. Although screening for these conditions in twins seems to be promising, the numbers were too small to make definitive conclusions regarding the screening efficacy for these conditions. It is possible that cell-free DNA testing performance may differ among laboratories and vary with screening methodologies.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Adult; Infant; Down Syndrome; Pregnancy, Twin; Trisomy; Prenatal Diagnosis; Trisomy 18 Syndrome; Trisomy 13 Syndrome; Cell-Free Nucleic Acids; Retrospective Studies
PubMed: 37030426
DOI: 10.1016/j.ajog.2023.04.002 -
Molecular Diagnosis & Therapy Nov 2023We aimed to evaluate the clinical performance of expanded noninvasive prenatal testing (NIPT-Plus) for the detection of aneuploidies and microdeletion/microduplication...
OBJECTIVE
We aimed to evaluate the clinical performance of expanded noninvasive prenatal testing (NIPT-Plus) for the detection of aneuploidies and microdeletion/microduplication syndromes.
METHODS
A total of 7177 pregnant women were enrolled in the study from June 2020 to March 2022 at Xijing Hospital, China. Cases with NIPT-Plus-positive results were further confirmed by chromosomal karyotyping and a chromosomal microarray analysis.
RESULTS
A total of 112 positive cases (1.56%) were identified by NIPT-Plus, including 60 chromosome aneuploidies and 52 microdeletion/microduplication syndromes. Ninety-five cases were validated by amniocentesis, and 57 were confirmed with true-positive results, comprising 18 trisomy 21, 4 trisomy 18, 1 trisomy 13, 17 sex chromosome aneuploidies, 1 other aneuploidy, and 16 microdeletion/microduplication syndromes. The positive predictive value of total chromosomal abnormalities was 60% (57/95). For trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies, other aneuploidies and microdeletion/microduplication syndromes, the sensitivity was all 100%, the specificity was 100, 99.986, 100, 99.888, 99.958, and 99.636%, and the positive predictive value was 100, 80, 100, 68, 25, and 38.10%, respectively. For all clinical characteristics, the abnormal maternal serum screening group was found to have the highest prevalence of chromosomal abnormalities (1.54%), and the ultrasound abnormality group presented the highest positive predictive value (73.33%).
CONCLUSIONS
NIPT-Plus has great potential for the detection of aneuploidies and microdeletion/microduplication syndromes owing to its high sensitivity, safety, and specificity, which greatly reduces unnecessary invasive procedures and the risk of miscarriage and allows informed maternal choice.
Topics: Female; Pregnancy; Humans; Down Syndrome; Noninvasive Prenatal Testing; Trisomy 18 Syndrome; Prenatal Diagnosis; Trisomy 13 Syndrome; Aneuploidy; Chromosome Aberrations
PubMed: 37689607
DOI: 10.1007/s40291-023-00674-x -
The Journal of Pediatrics Aug 2022
Topics: Birth Weight; Chromosomes, Human, Pair 18; Humans; Infant; Infant, Newborn; Intensive Care Units, Neonatal; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 35640673
DOI: 10.1016/j.jpeds.2022.05.043 -
The Laryngoscope Jun 2023The survival rate of patients with trisomy 13 and trisomy 18 has increased dramatically over the past two decades. We sought to comprehensively describe the...
OBJECTIVE
The survival rate of patients with trisomy 13 and trisomy 18 has increased dramatically over the past two decades. We sought to comprehensively describe the otolaryngologic clinical characteristics and procedures required for these patients at our institution.
METHODS
We performed algorithmic identification of patients with a diagnosis of trisomy 13 and trisomy 18 for whom the otolaryngology service provided inpatient or outpatient care at our institution between the dates of February 1997 and March 2021.
RESULTS
Of the 47 patients studied, 18 patients had a diagnosis of trisomy 13, and 29 had a diagnosis of trisomy 18. Complete trisomy was present in 44% (8/18) of trisomy 13 patients and 55% (16/29) of trisomy 18 patients. 81% of patients were living at the time of the study. About 94% (44/47) of patients required consultation with another specialty in addition to Otolaryngology. Overall, the most common diagnoses among this cohort were gastroesophageal reflux disease (47%), dysphagia (40%), otitis media (38%), and obstructive sleep apnea (34%). Nearly three-quarters (74%) of patients studied required an otolaryngologic procedure. The most common surgical procedure was tonsillectomy and/or adenoidectomy. Patients with trisomy 18 were significantly more likely to have external auditory canal stenosis and obstructive sleep apnea whereas patients with trisomy 13 were more likely to have cleft lip and palate.
CONCLUSIONS
Patients with a diagnosis of trisomy 13 or 18 often require multidisciplinary management and the range of required care spans the breadth of otolaryngology.
LEVEL OF EVIDENCE
4 Laryngoscope, 133:1501-1506, 2023.
Topics: Child; Humans; Trisomy 13 Syndrome; Trisomy 18 Syndrome; Cleft Lip; Cleft Palate; Tonsillectomy; Adenoidectomy; Sleep Apnea, Obstructive; Otolaryngology; Retrospective Studies
PubMed: 37158261
DOI: 10.1002/lary.30350 -
Seminars in Perinatology Oct 2017Although collectively they are fairly common, birth defects receive limited attention as a group of outcomes either clinically or from a public health perspective. This... (Review)
Review
Although collectively they are fairly common, birth defects receive limited attention as a group of outcomes either clinically or from a public health perspective. This article provides an overview of the prevalence, trends and selected socio-demographic risk factors for several major birth defects, including neural tube defects, cranio-facial anomalies, congenital heart defects, trisomies 13, 18, and 21, and gastroschisis and omphalocele. Attention should focus on strengthening existing registries, creating birth defects surveillance programs in states that do not have them, and standardizing registry methods so that broadly national data to monitor these trends are available.
Topics: Chromosome Disorders; Congenital Abnormalities; Craniofacial Abnormalities; Down Syndrome; Gastroschisis; Heart Defects, Congenital; Hernia, Umbilical; Humans; Neural Tube Defects; Prevalence; Risk Factors; Trisomy 13 Syndrome; Trisomy 18 Syndrome; United States
PubMed: 29037343
DOI: 10.1053/j.semperi.2017.07.004 -
American Journal of Medical Genetics.... Jun 2021Clinical histories and outcome data of long-term survivors with trisomy 13 are rare. The goal of this study was to collect the medical histories of adult individuals...
Clinical histories and outcome data of long-term survivors with trisomy 13 are rare. The goal of this study was to collect the medical histories of adult individuals (≥18 years old) with apparent non-mosaic trisomy 13/Patau syndrome to help gain further insight in to the clinical course for individuals with this condition and to characterize the manifestations for surveillance and management. We collected 11 families through a contact person with the LWT13 (Living with Trisomy 13) LIFE support group. We performed telephone interviews to gather their medical histories and report these data in system-based summaries, tables, and clinical vignettes. In instances where parents retained copies of genetic testing reports or clinicians currently taking care of the individual with trisomy 13 were able to provide documentation, we confirmed diagnosis. All clinical histories and reported manifestations were consistent with a diagnosis of trisomy 13. We also elicited comments from parents on their personal experiences of raising an individual with trisomy 13.
Topics: Adolescent; Adult; Child; Child, Preschool; Chromosomes, Human, Pair 13; Female; Humans; Infant; Interviews as Topic; Male; Parents; Self-Help Groups; Survivors; Trisomy 13 Syndrome; Young Adult
PubMed: 33750000
DOI: 10.1002/ajmg.a.62165