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Prenatal diagnosis of vascular anomalies
Jennifer J Marler1, Steven J Fishman, Joseph Upton
1Department of Surgery, the Vascular Anomalies Center, and the Advanced Fetal Care Center, Children's Hospital, and Harvard Medical School, Boston, MA, USA.
Insights
Accurate prenatal diagnosis of vascular anomalies improves fetal outcomes and optimizes care. Inaccurate diagnoses led to increased morbidity and mortality in infants.
Area of Science:
- Medical Imaging
- Prenatal Diagnosis
- Vascular Surgery
Background:
- Prenatal diagnosis of vascular anomalies is increasing.
- Accurate diagnosis impacts fetal and neonatal care.
- Interdisciplinary collaboration is crucial for managing vascular anomalies.
Purpose of the Study:
- To determine fetal age at detection of vascular anomalies.
- To assess the diagnostic accuracy of prenatal imaging.
- To evaluate the impact of prenatal diagnosis on antenatal and postnatal care.
Main Methods:
- Retrospective review of 29 patients with prenatal vascular anomaly diagnoses.
- Data collected on fetal age at diagnosis, diagnostic accuracy, and outcomes.
- Information gathered from parental reports, medical records, and obstetrician interviews.
Main Results:
- Overall prenatal diagnostic accuracy was 59% (17/29).
- Capillary-lymphatic-venous malformations had the highest accuracy (67%).
- Accurate diagnoses led to no fetal deaths or neonatal morbidity; inaccurate diagnoses were linked to mortality, unnecessary interventions, and delayed malignancy diagnosis.
Conclusions:
- Accurate prenatal diagnosis enables optimized antenatal care, including delivery planning and parental counseling.
- Inaccurate prenatal diagnoses significantly increase infant morbidity and mortality.
- Distinguishing intrauterine lymphatic malformation (LM) from posterior nuchal translucency is essential.
Background/Purpose:
Vascular anomalies are diagnosed prenatally with increasing frequency. The authors reviewed a group of children treated at their center who had an abnormal prenatal diagnosis to determine (1) fetal age at which the vascular anomaly was detected, (2) general diagnostic accuracy, and (3) impact on ante- and postnatal care. Their findings are compared with reported cases and series. The authors clarify appropriate terminology and underscore the need for interdisciplinary participation of specialists in the field of vascular anomalies.
Methods:
Patients referred during prenatal life and children with a history of abnormal antenatal findings seen at our vascular anomalies center during a 1-year period (September 1999 through August 2000) were included in this study. The fetal age at diagnosis, pre- and postnatal diagnoses, antenatal course, and neonatal outcome were obtained from the parents, through chart reviews, and through telephone interviews with the treating obstetricians.
Results:
Twenty-nine patients with vascular anomalies were identified: 17 had a correct prenatal diagnosis, and 12 had an incorrect diagnosis, an overall diagnostic accuracy of 59%. Capillary-lymphatic-venous malformations (CLVM) most often were correctly diagnosed (67%), followed by lymphatic malformation (LM, 62%) and hemangioma (59%). In the infants who received correct diagnoses in utero, there were no fetal deaths and there was no neonatal morbidity. Maternal steroids were administered for a fetus with an intrahepatic hemangioma and deteriorating cardiac function, with subsequent stabilization and successful delivery of a healthy neonate. Among infants with incorrect diagnoses, there was 1 postnatal death, 1 case of erroneous gender assignment, 1 case of unnecessary fetal surgical intervention, 1 unnecessary neonatal laparotomy, and 1 delay in diagnosis of a malignancy. Cesarean section was done for 65% of correctly diagnosed cases, (including 2 ex utero intrapartum [Exit] procedures) and for 33% of incorrectly diagnosed cases. Most diagnoses were made during the mid- to late second trimester and third trimester; only 4 cases (14%) were detected before 20 weeks.
Conclusions:
In this series, accurate diagnosis optimized antenatal care by providing an opportunity for planning deliveries, for pharmacologic fetal intervention in 1 case, and for appropriate parental counselling. Inaccurate diagnosis was associated with significantly increased morbidity and mortality. Finally, the intrauterine diagnosis of LM should be distinguished from posterior nuchal translucency, an obstetric term applied to fetal lymphatic abnormalities detected in the first and second trimesters that do not manifest as postnatal LM.