Prenatal Microarray Follow-Up Study

Completed

Conditions studied: Genetic Diseases

In brief

The objectives of this multi-center collaborative study are to ascertain the frequency of specific copy number variants (CNVs) identified prenatally and to evaluate in detail through continued follow-up of the children the phenotypes associated with CNVs of known or uncertain clinical significance.

Key facts

Study ID

NCT02160938

Run by

Columbia University

People needed

184

Starts

2013-02-01

Expected to finish

2018-12-01

Last updated by the study team

2019-03-25

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Singleton or multi-fetal pregnancy with a prenatal invasive procedure resulting in a diagnosis by microarray analysis of a microdeletion/duplication less than 10 Mbs, either pathogenic or of uncertain significance, which is reported to the patient. This includes:
• Infants diagnosed during prenatal diagnostic studies performed at the10 pre-specified prenatal diagnostic centers
• Infants diagnosed by analysis of microarrays performed at the collaborating laboratories
• Infants referred through the Prenatal Microarray Resource Center website
• Children who will be at least 3 years of age by January of 2018, and who had a prenatally detected CNV <10 Mbs, either pathogenic or of uncertain significance OR
• Children whose mothers were enrolled in the initial study (through July 2011) and who met inclusion criteria for follow-up in that phase, referred to as the "Index cohort". This includes:
• CNVs of uncertain or known significance, some of which were not reported to the patient
• Mosaic findings by karyotype and/or microarray alone.

You may not qualify if…

• Patient refusal to allow infant follow-up through the age of three
• Patient not fluent in the English language
• Patient under the age of 18
• In surrogate pregnancies, the "rearing parents" are unavailable to give consent.

Where it is running

• Center for Fetal Medicine — Los Angeles, California, United States
• George Washington University Biostatistics Center — Rockville, Maryland, United States
• Montefiore Medical Center — Larchmont, New York, United States
• North Shore LIJ — Manhasset, New York, United States
• Mt. Sinai Medical Center — New York, New York, United States
• Columbia University — New York, New York, United States
• OB/GYN Services PC — New York, New York, United States
• Geisinger Health System — Danville, Pennsylvania, United States
• University of Pennsylvania — Philadelphia, Pennsylvania, United States

Full record on ClinicalTrials.gov

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