Prenatal Microarray Follow-Up Study

Specifically the aims are as follows:

• Determine the intellectual function of the children at age 3 years
• Determine phenotypic characteristics other than intellectual function of the children at age 3 years
• Determine the frequency of specific copy number variants discovered during routine prenatal diagnostic testing
• Evaluate the educational, counseling and psychosocial implications of microarray testing as it is introduced as a standard prenatal diagnostic procedure.

Eligibility Criteria for Enrollment into the 3 year Follow-up Cohort

Inclusion criteria

• 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.

Exclusion criteria

• 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.