Expanded NIPT for Pregnancy Complications

Study Overview
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Brief Summary
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This study evaluates the utility of expanded panel non-invasive prenatal testing (NIPT) in detecting confined placental mosaicism of rare autosomal trisomies among pregnancies with placentally-mediated complications, including fetal growth restriction and severe preeclampsia.

Official Title
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The Role of Expanded Panel Non-Invasive Prenatal Testing in Identifying Rare Autosomal Trisomies in Pregnancies With Placentally-Mediated Complications

Conditions
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Fetal Growth Restriction, Preeclampsia Severe

Intervention / Treatment
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* Genetic: Expanded panel cell free DNA testing (non-invasive prenatal testing)
* Genetic: Placental biopsy
* Genetic: Umbilical cord blood


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: For fetal growth restriction cohort: diagnosis of early onset (< 34 weeks) severe fetal growth restriction, defined as estimated fetal weight less than 10th percentile with abnormal umbilical artery Dopplers OR estimated fetal weight less than 5th percentile alone OR biometric size at least 14 days behind expected dates For severe preeclampsia cohort: diagnosis of early onset (< 34 weeks) preeclampsia with severe features, diagnosed by ACOG criteria For low PAPP-A cohort, diagnosis of low PAPP-A levels (pregnancy associated plasma protein A), defined as less than 0.2 multiples of the median For healthy cohort, normal pregnancy with no evidence of maternal, obstetrical, or fetal complications Exclusion Criteria: Maternal age < 18 years Multifetal gestation Chronic hypertension Tobacco or drug use

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 60 Years

Sexes Eligible for Study
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Female

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Fetal growth restriction<br> | Genetic: Expanded panel cell free DNA testing (non-invasive prenatal testing)<br>* Maternal blood sampling<br>Genetic: Placental biopsy<br>* Post-delivery placental sampling<br>Genetic: Umbilical cord blood<br>* Post-delivery umbilical cord blood sampling<br>|
| Severe preeclampsia<br> | Genetic: Expanded panel cell free DNA testing (non-invasive prenatal testing)<br>* Maternal blood sampling<br>Genetic: Placental biopsy<br>* Post-delivery placental sampling<br>Genetic: Umbilical cord blood<br>* Post-delivery umbilical cord blood sampling<br>|
| Low PAPP-A<br> | Genetic: Expanded panel cell free DNA testing (non-invasive prenatal testing)<br>* Maternal blood sampling<br>Genetic: Placental biopsy<br>* Post-delivery placental sampling<br>Genetic: Umbilical cord blood<br>* Post-delivery umbilical cord blood sampling<br>|
| Healthy control<br> | Genetic: Expanded panel cell free DNA testing (non-invasive prenatal testing)<br>* Maternal blood sampling<br>Genetic: Placental biopsy<br>* Post-delivery placental sampling<br>Genetic: Umbilical cord blood<br>* Post-delivery umbilical cord blood sampling<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Composite adverse pregnancy outcome |  | Through study completion, an average of 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Preterm birth < 34 weeks |  | Through study completion, an average of 2 years | 
| Neonatal intensive care unit admission |  | Through study completion, an average of 2 years | 
| Intrauterine fetal demise | Death of fetus prior to delivery | Through study completion, an average of 2 years | 
| Neonatal demise | Death of infant within 28 days of birth | Through study completion, an average of 2 years |