Prenatal Microarray Follow-Up Study

Specifically the aims are as follows:

1. Determine the intellectual function of the children at age 3 years

2. Determine phenotypic characteristics other than intellectual function of the children at
age 3 years

3. Determine the frequency of specific copy number variants discovered during routine
prenatal diagnostic testing

4. 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

1. 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

2. 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

1. Patient refusal to allow infant follow-up through the age of three

2. Patient not fluent in the English language

3. Patient under the age of 18

4. In surrogate pregnancies, the "rearing parents" are unavailable to give consent.