Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGR (TandemMS)

Obstetrix Medical Group

Status

Terminated

Conditions

Fetal Growth Retardation

Hydrops Fetalis

Treatments

Procedure: Tandem MS test for inborn errors of metabolism

Study type

Observational

Funder types

Industry

Identifiers

NCT00143039

Tandem MS - 0005.3

OBX 0005.3

Details and patient eligibility

About

The objective of this pilot study is to prospectively evaluate amniotic fluid of pregnancies complicated by non-immune hydrops and severe symmetrical intrauterine growth restriction by tandem mass spectrometry for inborn errors of metabolism.

Full description

Nonimmune hydrops (NIH) and severe symmetrical intrauterine growth restriction (IUGR) represent two obstetrical circumstances that occur with relative frequency yet often escape adequate etiology assessment and diagnosis prior to and after birth. Both of these conditions have high perinatal and neonatal mortality rates. While antepartum ultrasound and amniotic fluid evaluations of fetal karyotype and viral DNA studies diagnose some etiologies for NIH and severe symmetrical IUGR, large percentages of NIH (30-40%) and IUGR (20-30%) cases are attributed to idiopathic causes. Because of this uncertainty in diagnosis, many cases are subjected to prolonged antepartum hospitalization with intensive fetal monitoring and urgent delivery by Cesarean section for non-reassuring fetal status, only to succumb to a neonatal demise in the nursery. A small percentage (1-2%) of these cases are found to be due to inborn errors of metabolism by neonatal and/or postmortem evaluation; however, when combined together, greater than 50% of NIH and IUGR cases have no identifiable etiology. Therefore, any new test that may make a diagnosis for NIH or severe symmetrical IUGR prior to delivery would be extremely important to the management of both the mother and the infant. Tandem mass spectrometry for inborn errors of metabolism may represent a new tool for assessing, identifying, and treating currently unexplained cases of NIH and severe symmetrical IUGR.

This is a prospective pilot cohort study of all pregnancies complicated by NIH and severe symmetrical IUGR within the Pediatrix-Obstetrix network. This network encompasses several perinatal sites throughout the United States with corresponding neonatal intensive care units utilizing a computerized patient database (RDS). The objective of this study is to prospectively evaluate amniotic fluid of pregnancies complicated by NIH and severe symmetrical IUGR by a method called tandem mass spectrometry for inborn errors of metabolism.

Enrollment

48 patients

Sex

Female

Ages

18 to 60 years old

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

NIH Inclusion Criteria:

Singleton gestation
18 years of age or older
Excess extracellular fluid in at least two fetal sites as noted by ultrasound: abdomen (ascites), the chest (pleural and pericardial effusions), the skin (edema > 5mm), the amniotic cavity (polyhydramnios), and the placenta (thickening > 6cm)
NIH diagnosis > 15w0d gestation
Diagnostic amniocentesis performed at > 15w0d gestation

NIH Exclusion Criteria:

Immune-mediated hydrops fetalis as diagnosed by maternal red cell antigens and fetal anemia suspected by middle cerebral artery doppler ultrasound and/or confirmed by percutaneous umbilical blood sampling
Structural anomaly identified by ultrasound
Chromosomal aneuploidy
Multiple gestations

IUGR Inclusion Criteria:

Singleton gestation
18 years of age or older
Severe symmetrical IUGR defined as a > 3 week lag of all fetal ultrasound measurements (biparietal diameter, head circumference, abdominal circumference, and femur length)
IUGR diagnosis between 24-32 weeks gestation
Diagnostic amniocentesis performed prior to 32 weeks gestation

IUGR Exclusion Criteria: